Mommies of Miracles

Retinopathy of Prematurity (ROP)

Author: Mommies of Miracles
Date: Monday 06th of August 2012 05:00:00 PM

Overview
Retinopathy of prematurity (ROP) is when blood vessels develop abnormally in the retina of premature infants. The blood vessels of the retina begin to develop 3 months after conception and complete their development at the time of normal birth. If an infant is born very prematurely, eye development can be disrupted. The vessels may stop growing or grow abnormally from the retina into the normally clear gel that fills the back of the eye. The vessels are fragile and can leak, causing bleeding in the eye. Scar tissue can develop and pull the retina away from the eye and cause blindness. High amount of oxygen can increase the abnormal growth of the blood vessels.

Symptoms
There are 5 stages of ROP.

• Stage I: There is mildly abnormal blood vessel growth.
• Stage II: Blood vessel growth is moderately abnormal.
• Stage III: Blood vessel growth is severely abnormal.
• Stage IV: Blood vessel growth is severely abnormal and there is a partially detached retina.
• Stage V: There is a total retinal detachment.

Tests/Diagnosis
ROP can not be seen by looking a a infants eye. It can only be diagnosed by a eye exam.

Treatments
Treatment may include cryotherapy (freezing) to prevent the spread of abnormal blood vessels.

Laser therapy (photocoagulation) may be used to prevent complications of advanced ROP. The laser therapy stops the abnormal blood vessels from growing. It can be performed in the nursery using portable equipment. To be effective, it must be done before scarring and detachment occurs

Surgery is needed if the retina detaches.

Resources
http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002585/

Personal Story
Julia was born at 24 weeks and was the only surviving triplet. She spent 315 days in the NICU before she was strong enough to come home. During her time in the NICU she was on and off a ventilator and on high amount of oxygen for long periods of time. She had a trach put in at 6 months is hope of getting her off the vent and off high amounts of oxygen since her eyes were being affected by ROP. By the time she was 6 months old she had already had cryotherapy and many laser treatments on both eyes. She also had surgery on both eyes to try to reattach her retina's. Even though her ROP was caught early and treatment was started right away we were told our daughter was completely blind in both eyes. She is now 7 and doing great. She is blind but that does not stop her one bit from doing anything and everything a normal 7 year old would want to do.


Contributed by MOM Jodi

Undiagnosed

Author: Mommies of Miracles
Date: Monday 30th of July 2012 05:00:00 PM


Overview
3-1/2 years ago Sydney started having seizures which turned into a constant twitch that started in her face and quickly spread over her entire body. After several hospital stays and trips to various institutions they have not been able to come up with a diagnosis or treatment. Sydney is 6-1/2 years old now.  We are not giving up hope.

Symptoms
Seizures, twitching in face, arms, hands, and feet, delayed development.

Tests/Diagnosis
Every test under the sun!  Went to NIH Undiagnosed Diseases Program.  Numerous tests came back negative and only test left is a complete gene sequence, which we are still waiting on the results.

Treatments
Ketogenic diet, several seizure medications, chiropractor, PT, OT, speech therapy, horse therapy

Resources
Recently, we found another little girl with the same symptoms through an article on CNN and the NYT. We are hoping that if we find enough children with the same symptoms it will point to a clue as to what is causing this and hopefully a successful treatment. We know there are others like her out there.

Contributed by MOM Carrie Marko to see more about Sydney here is a YouTube video her mom shared.

Stickler's Syndrome

Author: Mommies of Miracles
Date: Monday 23rd of July 2012 05:00:00 PM

Overview
Stickler's Syndrome is an autosomal dominant progressive connective tissue disorder.  It effects the collagen which is a tissue that connects; bones, eyes,ears, and is responsible for forming parts of organs such as valves. In children it often causes difficulties with breathing and eating.  Some of those symptoms can decrease as facial features mature.

Symptoms
Symptoms very from patient to patient. There are many dysmorphic features that can be included such as; flattened facial bones, prominent upper lip, and small lower jaw.  Many systems can be included.  Possible effects include; pierre robin sequence, progressive hearing loss, cardiac defects, progressive vision loss and other vision abnormalities, joint and bone deformities, and early onset arthritis.

Tests/Diagnosis
Diagnosis is usually made on a clinical basis when a certain number of the symptoms are detected in a patient.  There are a few common genetic mutations that can be detected in nearly 75% of patients with the syndrome.

Treatments
Many specialist are involved in the treatment and management of Stickler's Syndrome.  Treatments are based off of the specific effects of the disease.  Often anti-inflammatory medications are needed for control of joint pain.  Other treatments may include; physical therapy, bracing, glasses, hearing aides, and surgeries.

Resources
http://www.sticklers.org/sip2/
http://www.massgeneral.org/children/services/treatmentprograms.aspx?id=1671
http://www.mayoclinic.com/health/stickler-syndrome/DS00831

Personal Story

Our son Caelum was born with both breathing and feeding difficulties.  He has bronchomalacia and was born with a sequence of congenital abnormalities called Peirre Robin Sequence.  Included with that he has a submucousal cleft pallet with makes swallowing difficult. The diagnosis of Stickler's did not come until he was 18 months due to the fact that some of his symptoms associated with Stickler's were thought to be responsible by his mitochondrial disease (a genetic progressive disease resulting in failure of the mitochondria).  Once it was made clear that some of his issues were not commonly associated with mitochondrial disease, Stickler's was suspected.  At 18 months his joints and airway seem to be his major effects.  He also has cutis laxa (stretchy skin) which makes vascular access and bruising a complication.  He is 02 dependent due to many issues, but one is chronic atelectisis which is because of weakened collagen in his lungs.  He will be seeing; ophthalmology, craniofacial, cardiology, orthopedics, audiology, and physical/occupational/speech to follow and treat him for complications.  He is a very sweet little boy who lets very little get in his way. He is a miracle to us in every single way!

Contributed by MOM Admin Kate Sytsma - Be sure to check out Caelum's Cannula Caps

Trisomy 8 Mosaic Syndrome

Author: Mommies of Miracles
Date: Monday 16th of July 2012 05:00:00 PM

Overview
Trisomy 8 Mosaic Syndrome - some of the cells in her body have 3 copies of the 8th chromosome.

Symptoms
Agenesis of the corpus callosum,dysmorphic facial features, low-set or abnormally shaped ears and a bulbous-tipped nose, eye abnormalities like strabismus and corneal clouding, bone and tissue abnormalities, various structural heart problems, palate abnormalities, hydronephrosis, cryptorchidism, mild to moderate mental delays, and deep hand and feet creases. These characteristics tend to vary widely from person to person.

Tests/Diagnosis
Blood chromosome testing or skin chromosome testing.

Treatments
No treatment for chromosome disorder.  Treatment is correction of medical conditions associated with the disorder.

Resources
http://www.healthline.com/galecontent/trisomy-8-mosaicism-syndrome#1
http://www.rarechromo.org/information/Chromosome%20%208/Trisomy%208%20Mosaicism%20QFN.pdf

Personal Story

Wow!  Where to begin!  I'm KiKi's grandma, and guardian.  My hubby and I have had KiKi since she was born except for about 6 months when here mom "took" her and her brother.

KiKi was born at 37 weeks and the first year of her life was spent keeping her alive.  Since then, she has done really well, except for her ears.  Because of the craniofacial deformities, she has constant ear infections with massive draining.  Surgery tomorrow (June 5) for I don't know, the 10th time maybe?

She just started walking over St. Patrick's day weekend. I don't think she has sat down since, she's making up for lost time.

She is functionally non-verbal. She has some sign language she uses and we are starting to use a picture board for her to communicate her needs/wants.

She is happy, loves everyone and in spite of all the hospitalizations and surgeries.  She is the love of my life (except for her brother!) and I cannot imagine life without her.

Here is the link to an interview I did last year for our local children's medical center radiothon.  The words and music are the interview, I added the pictures, hopefully this will give you an idea about how wonderfully perfect Kiki is!

Contributed by MOM Bea Hall to see more about KiKi, here is a YouTube video her mom shared.

Encephalocele

Author: Mommies of Miracles
Date: Monday 09th of July 2012 05:00:00 PM

Overview
Encephalocele - rare neural tube defects characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. The result is a groove down the midline of the upper part of the skull, or the area between the forehead and nose, or the back of the skull.

Symptoms
Symptoms include: hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain), spastic quadriplegia (paralysis of the arms and legs), microcephaly (abnormally small head), ataxia (uncoordinated movement of the voluntary muscles, such as those involved in walking and reaching), developmental delay, vision problems, mental and growth retardation, and seizures. Some affected children may have normal intelligence.

Tests/Diagnosis
Usually encephaloceles are dramatic deformities diagnosed immediately after birth, but occasionally a small encephalocele in the nasal and forehead region can go undetected. Encephaloceles are often accompanied by craniofacial abnormalities or other brain malformations.

Some encephaloceles are diagnosed in utero with ultrasound.  Usually an amniocentesis is also offered to detect genetic involvement.  A fetal MRI is the best test to understand brain involvement in the encephalocele.

Treatments
Generally, surgery is performed during infancy to place the protruding tissues back into the skull, remove the sac, and correct the associated craniofacial abnormalities. Even large protrusions can often be removed without causing major functional disability (if the encephalocele contains mostly CSF). Hydrocephalus associated with encephaloceles may require surgical treatment with a shunt. Other treatment is symptomatic and supportive (palliative).

Resources
Facebook - Encephalocele mommies and daddies and Encephalocele Support
http://www.ninds.nih.gov/disorders/encephaloceles/encephaloceles.htm

Personal Story

Our little girl, Grace, was diagnosed at 20 weeks gestation with an occipital encephalocele (the back of her skull).  It contained mostly CSF and approximately 10% of her cerebellum.  She was born at 39 weeks, weighing 7 lb, 1 oz and was otherwise healthy.  She had surgery to remove the (large) encephalocele when she was 5 days old.  She also had a VP shunt placed after she developed hydrocephalus when she was 2.5 months old.  She started physical, occupational, and speech therapies after her shunt surgery.  She is now 15 months old, and is developmentally delayed, but is meeting milestones at her own pace.  Other diagnoses she has are microcephaly and agenesis of the corpus callosum.

Contributed by MOM Karen - To read more about Grace check out her BLOG

Neonatal Alloimmune Thrombocytopenia (NAIT)

Author: Mommies of Miracles
Date: Monday 02nd of July 2012 05:00:00 PM

Overview
Strokes in utero from Neonatal Alloimmune Thrombocytopenia resulting in massive brain damage.

Symptoms
Cognitive delay, speech delays and epilepsy.

Tests/Diagnosis
Blood test and CT and MRI scans of the brain and therapeutic evaluations

Treatments
Speech therapy, OT PT special education since 4 weeks of age. Also horseback riding, social classes, behavior modification and medication for the seizures

Resources
http://health.groups.yahoo.com/group/NAIT/
http://www.Naitbabies.org
Early Intervention, NYU Comprehensive Epilepsy Clinic and school district resources.

Personal Story

Chris was born term after 2 days of labor and 3 hours of pushing he had to have an emergency csection. Immediately after birth they knew something was wrong. Chris had a swollen head and petechial hemorrhages all over his body. He also had bruising from the birth.

They tested his blood and found that he had low platelets. They found that we had a condition that was called NAIT neonatal alloimmune thrombocytopenia. Basically it is a condition that is not screened for anywhere in the world except for Norway. It is where the mothers and fathers platelet "type" do not match and mom makes antibodies against the baby's platelets.  Her body sees the platelets as an invader.
Chris was not expected to live much past birth because of his brain damage. We were given a week, then when he lived past that, a month and then a year. They expected him not to walk or talk or even recognize us as his parents.

Ironically (through massive therapy) Chris hit all his milestones for his first year ON TIME!!!!  It wasn't until he was 2 years old that we realized that even though he could speak he had major trouble retrieving words. To this day he is very quiet and has to be coaxed to speak. He does however walk, talk, run, jump, swim, hike and rock climb, yes rock climb. He will never be in a typical school although he loves school and has made friends on his own. He will always be in a special education classroom but it is fine with us. Chris is a happy adorable 11 year old. He is a true miracle and overcame so much and blew his prognosis out of the water! We love him so much.

His brother was treated while I was pregnant and fortunately was born okay. Unfortunately this did not have to happen to Chris. Blood testing of mom and dad BEFORE getting pregnant would determine those at risk for a NAIT pregnancy. It has become a goal of mine to provide support for other families and push for screening and make it part of prenatal testing. NAIT can be treated and children do not have to be born with brain damage. I started the yahoo support group in 2002 and it has taken off!!! NAIT is now in one in every 500 Caucasian births and statistics say it is about 1-600 world wide in every population. We feel it is grossly under diagnosed since not all cases are severe and not all are with the first child. Some people have a 50% chance of NAIT while others have 100% due to genetics.

Contributed by MOM Stephanie Volpe

Aperts Syndrome

Author: Mommies of Miracles
Date: Monday 25th of June 2012 05:00:00 PM

Overview
Aperts Syndrome is a multi-faceting condition caused by a mutation of a chromosome. Most mutations occur randomly, but then it becomes a dominant trait. So then the person affected has a 50/50 chance of passing it on to their child.  Aperts Syndrome occurs in 1 out of approximately 160,000 live births.

Symptoms
Aperts Syndrome is pretty obvious at birth as the child is born with webbed fingers and toes as well as a retruded midface. The plates of the skull tend to fuse together prematurely, putting pressure on the brain. Joints can be stiff or fused. Typically the middle knuckle is missing in all of their fingers. There can also be heart and kidney problems. Often there are vision and hearing problems as well. Many suffer from sleep apnea due to the abnormal craniofacial features and smaller airways. A high arched or cleft palate and overcrowded teeth are very common. Intellectual abilities vary.

Tests/Diagnosis
Aperts is pretty apparent at birth, however, since it is a pretty rare condition not all pediatricians are able to diagnose it immediately.

Treatments
Treatment for the various facets of Aperts Syndrome includes typically over 20 surgeries by the age of 18. Speech, occupational, and physical therapy also significantly help the child to function.

Craniofacial surgeries are done to separate the plates of the skull which fuse together prematurely (Craniosynostosis), draw the bones of the midface forward and reshape the skull. Oftentimes the child will wear a helmet to keep the top of the head from growing abnormally wide. Several surgeries are done to separate the webbed fingers as well as straighten out thumbs and big toes. Often a child will also undergo surgery to realign the eye muscles. Orthodontic work is also necessary. Many children also get a trach due to breathing issues.

Resources
http://www.apert.org/
http://www.faces-cranio.org/Disord/Apert.htm
http://www.thecraniofacialcenter.org/apert.html

Several groups on Facebook:
https://www.facebook.com/#!/groups/apertsyndromeawareness/
https://www.facebook.com/#!/groups/apertusa/

Personal Story

My son Matthew is a trooper! He is 6 years old and about to undergo his 7th surgery. This year alone he will have three surgeries! And yet the child keeps on smiling and laughing. He has an insane amount of curiosity and energy as well as mad problem solving skilz!

Matthew has had surgeries to correct his craniofacial issues, webbed fingers, bent big toes, and eye muscles. He also has progressive hearing loss due to the bones in his ears which are calcifying. Matthew's shoulders are out of socket, which decreases his range of motion. Sleep apnea has also been an issue for him, as well as a contributor to his ADHD.

Matthew's most recent surgery was in January of 2012 where metal distractors were placed in his head (and turned every day for 30 days or so) to push the bones in his midface forward. He had a trach while he was in the hospital, but was able to get it removed before being discharged. As you can probably imagine, the craniofacial surgeries carry the most risks.  This time around we experiences some of those... Matthew sat up the day after surgery and his trach slipped out and his airway started to close up. He also contracted meningitis while in the hospital.  Then a couple weeks ago he had to be rushed to the ER via ambulance because of airway problems.

It has been a scary road at times, but overall I am grateful for the blessing of raising my little miracle boy. He reminds me what is most important in life (the people!) and not to sweat the small stuff. Despite all the trials, we are so blessed!

If you want to read more of our story, check out my blog about my journey as a single mom of a special needs child:

Contributed by MOM Selena LaBerge- to read more about Mathew check out his BLOG

Chronic Mucocutaneous Candidiasis (CMC)

Author: Mommies of Miracles
Date: Monday 18th of June 2012 05:00:00 PM

Overview
CMC is a less common PID (primary immunodeficiency) CMC is associated with a selective T-cell deficiency to Candida and a few related fungi, but otherwise their immune system is fine.

Symptoms
persistent Candida (fungus), infections of the mucous membranes, scalp, skin and nails, but not of the blood stream or internal organs.

Tests/Diagnosis
The most common abnormal lab test is a negative delayed hypersensitivity skin test to Candida antigen, despite widespread Candida infection.

Treatments
These infections respond to anti-Candida treatment but recur when the treatment stops.  A few CMC patients develop severe hepatitis or bronchiectasis. Treatment requires life-long antifungal medicines.

Resources
Canadian Immunodeficiencies Patient Organization-CIPO

Personal Story
Our two boys were just diagnosed with CMC, after years of unexplained illness.  Both have candida in their esophagus, our youngest is responding to treatment, our older son is not.

Contributed by MOM Erin H

Undiagnosed

Author: Mommies of Miracles
Date: Tuesday 12th of June 2012 02:58:00 PM

Overview
Keean has struggled with absorbing nutrients, has damaged villi, doesn't respond to immunizations and can't tolerate more than 38ml's and hour or he throws up.  He does not act hungry and could go without eating for an entire day.  He also has chronic diarrhea. Keean would not eat enough to gain weight on his own and associates food with pain so he had a feeding tube placed in September.  At first he just had formula pumped into his J tube, but eventually was able to tolerate all his feeds through his G tube.

Symptoms
-Chronic diarrhea
-Fatigue
-Lack of response to immunizations
-Vomiting
-Damaged Villi
-lower muscle tone (can sit up and bare weight on his legs but will not pull himself up or sit in a crawling position for long).  Less strength in his arms than legs.

Tests/Diagnosis
Keean has been tested for numerous diagnosis.  Some include:  Cystic Fibrosis, Microvillus INclusion, Auto Immune Enteropathy, Maple Syrup Urine disease, kidney disease, thyroid disease, immune deficienccies and has had an MRI to see if there was any visible cause of low muscle tone.  He has had numerous endoscopies where biopsy of his small intestine have been taken, but NOTHING has shown any sign of ANyTHING.  We have been to a geneticist and have had genetic testing and have donated many ounces of his blood looking for answers.

Treatments
Keean has a feeding tube so he intakes enough calories to gain weight and is on previcid for reflux.  Because there is not yet a diagnoses, he is not being treated for any other symptoms.

Resources
Midwest Immunology Clinic, Children's Hospital and Clinics --Minneapolis and St. Paul, Neurology clinic, St. Paul Gastroenterology, Genetic clinic of St.Paul.  I have also found different online support groups through facebook.

Keean's Story
Keean was born full term weighing 6lbs 12oz and was 20 inches long.  When still at the hospital after birth he threw up, but that was considered "normal" and we were sent home after 2 days.  Keean lost 2 ounces before we were discharged (again considered normal).BUT when we went to our first check up he had lost another 2 ounces.  That started our journey of weekly weight checks.  He slowly became more irritable and was switched to nutramigen because they diagnosed him with a protein allergy.  He was tested for pyloric stensosis, had an xray and ultra sound of his stomach and of his heart and an upper GI.  The only thing that came of those tests was they noted his stomach was "slow to empty" and he had severe reflux.  Keean continued to struggle gaining weight and was puking numerous times daily.  He wouldn't eat enough to gain weight and if he ate 2 ounces he'd throw up 3.  At 2 months old we were admitted to Children's Hospital where they ran several tests (all of which came back negative). We had to force him to eat every 4 hours and pray he would keep it down.  While at the hospital he came down with the enterovirus and started malabsorbing sugar.  He was placed on a carb free formula and put on TPN because he was losing weight quickly  At 3.5 months Keean only weighed in at 9lbs. 8oz. which is less than 3lbs since his birth.  While at children's he had an NJ tube placed to help him get enough nutrients and   because it was down his throat made him gag and puke constantly so I insisted on a permanent feeding tube (GJ).  This was placed in September and when he was able to gain weight off a very high amount of calories of just formula and no TPN we were able to take out his TPN line and go home.  Keean continues to doctor because he has chronic diarrhea, damaged villi, a weak immune system and low muscle tone.  He has not been responding to his immunizations and will bare weigh on his legs, but won't put weight on his arms or pull himself into a standing or crawling position. He will be 10 months old on April 2 and weighs 17lbs 5oz and has not gained weight in over a month.  He has been puking more again and last week was malabsorbing sugar again. We are patiently waiting for answers or looking for some direction due to all sorts of negative tests.

Contributed by MOM Ashley Hanson

ESES - Electrical Status Epilepticus of Sleep

Author: Mommies of Miracles
Date: Monday 04th of June 2012 05:00:00 PM

Overview
ESES - Electrical Status Epilepticus of Sleep is a rare form of epilepsy that produces subclinical (unseen) seizures during sleep. This type of epilepsy is characterized by the presence of generalized 1-3 Hz spike-wave discharges occupying 85% or more of the EEG of non-REM sleep.  Visible, clinical seizures may also occur, but not necessarily.

Symptoms
The epilepsy: The age at which the first seizure occurs ranges between 2 months (Dalla Bernardina et al 1989) and 12 years (Bureau 1995), with a peak around 4 and 5 years (Tassinari et al 1985). This event can be preceded by either normal psychomotor development or abnormal signs indicating pre-existing encephalopathy, such as hemiparesis, hemiplegia, spastic quadriplegia, diffuse hypotonia, and ataxia.

The seizure types occurring in the disorder can be both partial and generalized. They include unilateral or bilateral clonic seizures, generalized tonic-clonic seizures, absences, partial motor seizures, complex partial seizures or epileptic falls. They may occur during wakefulness or sleep. Tonic seizures, however, never occur.

The first seizure is reported to be nocturnal and of unilateral type in almost one half of the cases reported. At onset, the frequency of seizure attacks is low. At the time of discovery of the typical nocturnal EEG pattern, however, the epileptic seizures frequently change in severity and frequency. Absences and epileptic falls herald the appearance of continuous spikes and waves during slow sleep and seizure frequency increases, both during wakefulness and sleep. About 60% of patients also exhibit several types of seizures (Tassinari et al 1985; 1992).

Neuropsychological deterioration:  There is a constant and severe deterioration in neuropsychological functions associated with the disorder, and language capacity can be particularly affected. Patients also may show a profound decrease in intellectual level, poor memory, impaired temporospatial orientation, reduced attention span, hyperkinesis, aggressive behavior, and even psychosis (Jayakar and Seshia 1991; Tassinari et al 1992).

Motor impairment: Motor impairment, in the form of dyspraxia, dystonia, ataxia, or unilateral deficit, has been emphasized as one of the outstanding disturbances occurring in this syndrome (Dalla Bernardina et al 1989; Neville et al 1998).

Tests/Diagnosis
The best form of diagnosis is an all night sleep study EEG.  A diagnosis may be given through a shorter sleep deprived EEG, but and all night study is best.

Treatments
At this point in time there is no one drug in particular that works in every child.  Many times it is very difficult to find a medication that works at all.  In our specific case our daughter is responding remarkably well to Kepra.  Kepra is generally NOT one of the recommended medications for this type of seizure, but in her case it is working wonderfully.

Resources
Because this is a very, very rare form of epilepsy there is very little information out there.  Even many neurologists are unfamiliar with the disorder.  We were very fortunate to find a doctor who was familiar with and recognized ESES when he saw it.
There is very little information available on the internet that is not highly technical.  Here are a few of the most helpful web sites I have found:

http://www.ilae.org/visitors/centre/ctf/electric_stat_slow_sleep.html
http://articles.complexchild.com/aug2011/00322.html
http://www.nattsumi.com/epilepsy-treatment/syndrome-of-electrical-status-epilepticus-during-slow-wave-sleep-eses.html

Lily's Story
All I can say is that God was watching out for our little girl.  It is my very strong belief that this condition would have gone undiagnosed, possibly her entire life, if she had not had two actual clinical seizures this past summer.

We adopted our daughter at 16 months of age from China, aware that she had some fairly significant developmental delays.  She was at about a 3 month level developmentally when we got her and could barely hold her own head up.  She weighed 15 lbs.  She had the blessing of excellent care which made her condition that much more concerning.

We went through the standard battery of tests when we came home and the only things that showed up were obvious problems that we were aware of, 80% blocked ear tubes and bilateral club feet.  She didn't even register on the growth chart for weight or height.

A year went by and we made very slow but very steady progress.  A three steps forward two steps back kind of pattern, but she would always forage ahead.  We sought out a new pediatrician at that time because of our daughter's lack of weight gain.  She ate, and ate, and ate but gained hardly anything.  She went through several crazy growth spurts where she grew inches in height, but again, gained no weight.  Her muscle tone was very low to nonexistent adding to her struggles to move ahead.

The new pediatrician immediately diagnosed her as PDD-NOS (pervasive developmental delay - not otherwise specified) and Failure to Thrive and sent us for new, more in depth testing including a brian MRI and a complete genetic work up.  Because we have no family history he felt it was very important to do the genetic testing.

While we were waiting for those tests to come back Lily had her first febrile seizure.  My husband and I are both EMT's.  We see febrile seizures all the time, and while we were very concerned since it was happening to us, we knew that febrile seizures are very common and not really anything to get worked up about.  She went to the hospital and everything checked out fine.  She ran a fever for a couple of days and everything went back to normal.  Two weeks later another identical seizure, but no fever.  Luckily it happened in a hospital (I was in having surgery, go figure?!?!) so my husband immediately rushed her to the ER where they ran a CAT scan and did a full blood work up.  Everything was clear, they sent her home on anti-seizure medication.

At this point, however, her pediatrician immediately requested a consult with the Children's Hospital in Milwaukee Neurology Dept. to set up an EEG.  Once a child has a seizure that is non-febrile, or a second febrile seizure and EEG is standard protocol.
To make a long story short, they did the EEG and found "abnormal brain activity" while she was sleeping, handed us a prescription and said see you in 9 months.  Not pleased is a very mild description of my reaction to their concern for my child.

We immediately requested a 2nd opinion and were referred to the University of Wisconsin Madison.
While we were waiting to get in for the 2nd opinion we did continue to give the anti-seizure medication that was prescribed by the original ER doctor and neurologist.

We immediately, upon starting the medication (Kepra), began to see global improvements in our daughter.  Every single aspect of her being started to come alive, that is the only way I can describe it.  Cognitive, emotional, developmental, you name it, it improved.  Her strength and her weight both started to increase.
We met with the new neurologist last October for the first time.  After a 2nd EEG he diagnosed her with ESES.  Basically ESES causes conditions in the brain that make it as if the brain never gets to sleep.  The body may be sleeping like normal on the outside, but inside, the brain is having an electrical storm of massive proportions.   We all know what happens to us as adults if we don't get enough sleep.  Try that every night for your whole, short, little life when you are trying to learn and grow and it is a very, very bad outcome.

Thankfully we found this early.  Lily is thriving right now and has every chance at a full recovery.  She still has a lot of catching up to do, but God gave her a spirit of strength and determination that is unmatched by anyone I have ever met.  I just pray He gives me the strength to keep up with her!

Don't ever give up home on finding answers for your child.  God loves you and he loves your child.

Contributed by MOM Jennifer Thoreson

Ataxia Telangiectasia (A-T)

Author: Mommies of Miracles
Date: Monday 28th of May 2012 05:00:00 PM

Overview
Ataxia Telangiectasia (A-T)  A-T is a progressive, degenerative disease that is rare, (approximately 500 children in the US).  It is a recessive genetic disease that combines the very worst symptoms of Muscular Dystrophy, Cerebral Palsy, Cystic Fibrosis, an Immune System Disorder and a 1,000% greater chance of getting cancer than the "average" child.  Children with A-T are usually wheelchair dependent by the age of 10 and rarely survive their teens.

Symptoms
Ataxia (wobbly, lack of balance), choreoathetosis, tremors, jerks, slurred speech, swallowing impairments, and apraxia, just to name a few.

Tests/Diagnosis
Examination of the chromosomes.  DNA

Treatments
There are currently no treatments or therapies for A-T.  It is fatal.

Resources
www.atcp.org

Lana's Story
Our Lana is a fighter...she's had to be.  She was born into a world of domestic violence, mental illness and drug and alcohol abuse.  When Lana was 15 months old, we were successful in getting custody of her, and her little brother, Alexander.   (We are her maternal grandparents.)

We knew something was wrong due to the way she walked.  At first, the doctors thought she had Cerebral Palsy...until her symptoms worsened.  It was then thought she had Tuberous Sclerosis.  When testing ruled that out, she was tested for Ataxia Telangiectasia.  Testing proved she had this devastating disease.

She began using a wheelchair and a Dynavox communication device at the age of two.  As time goes on, Lana's symptoms progress.

An MRI of her brain last April showed that the A-T has destroyed her cerebellum...the brain matter has been replaced by spinal fluid.  Lana's immune system failed in November of last year, and now, each week we give her subcutaneous immunoglobin infusions at home.

At age 8, Lana's A-T is progressing much quicker than most, as the drug and alcohol she was subjected to in utero have exacerbated the disease.  Lana's mother, our daughter passed away of a drug overdose on June 27, 2009 at the age of 27.

Despite everything, Lana is a beautiful, happy little girl who is in the 2nd grade.  She loves school and Brownie Girl Scouts and will soon begin cheerleading with a special needs squad.

Lana has been recognized by the Texas Legislature for her role in representing the disabled children of Texas in the fight to preserve Medicaid.

This past Saturday night, Lana was crowned Little Miss Wheelchair Texas 2012 and it is our hope that  she can continue to be an advocate for disabled children.  We are so very proud of our girl!

Contributed by MOM Teri Little - to read more about Lana check out her FB Page

Holoprosencephaly

Author: Mommies of Miracles
Date: Monday 21st of May 2012 05:00:00 PM

Overview
Holoprosencephaly (HPE) is a congenital anomaly in which there is incomplete development of the brain. In utero, the developing forebrain (prosencephalon) fails to divide into two separate hemispheres and ventricles. Specifically, there is incomplete cleavage into right and left hemispheres; into the telencephalon and diencephalons; and into the olfactory and optic bulbs and tracts. Based on the level of cleavage, Holoprosencephaly is classified into 4 subtypes: Alobar, Semilobar, Lobar and MIHV.

Symptoms
N/A

Tests/Diagnosis
Holoprosencephaly can range from mild to severe and is classified into four types:

Alobar Holoprosencephaly (severe)--where the brain is not divided and there are severe abnormalities (there is an absence of the interhemispheric fissure, a single primitive ventricle, fused thalami, and absent third ventricle, olfactory bulbs and tracts and optic tracts).

Semi-Lobar Holoprosencephaly (moderate)--where the brain is partially divided and there are some moderate abnormalities; where there are two hemispheres in the rear but not the front of the brain (there are partially separated cerebral hemispheres and a single ventricular cavity).

Lobar Holoprosencephaly (mild)--where the brain is divided and there are some mild abnormalities (there is a well developed interhemispheric fissure however there is some fusion of structures).

Middle Interhemispheric Variant of Holoprosencephaly (MIHV) -- where the middle of the brain (posterior frontal and parietal lobes) are not well separated.

Treatments
N/A

Resources
http://www.mademeaningful.com/


Contributed by MOM Maria Valencia - to read more, please check out Maria's FB Page

CHARGE Syndrome

Author: Mommies of Miracles
Date: Monday 14th of May 2012 05:00:00 PM

Overview
CHARGE syndrome is a recognizable (genetic) pattern of birth defects which occurs in about one in every 9-10,000 births worldwide. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. The vast majority of the time, there is no history of CHARGE syndrome or any other similar conditions in the family.

Symptoms
Babies with CHARGE syndrome are often born with life-threatening birth defects, including complex heart defects and breathing problems. They spend many months in the hospital and undergo many surgeries and other treatments. Swallowing and breathing problems make life difficult even when they come home. Most have hearing loss, vision loss, and balance problems which delay their development and communication.
Major Features of CHARGE Syndrome (very common in CHARGE and relatively rare in other conditions)
Coloboma of the eye: Coloboma (sort of like a cleft) of the iris, retina, choroid, macula or disc (not the eyelid); microphthalmos (small eye) or anophthalmos (missing eye): CAUSES VISION LOSS
80%-90%

Choanal atresia or stenosis The choanae are the passages that go from the back of the nose to the throat. They can be narrow (stenosis) or blocked (atresia). It can be unilateral (one-sided) or bilateral (both sides), bony or membranous.Unilateral atresia or stenosis can be difficult to diagnose 50%-60%

Cranial nerve abnormality      
I - Missing or decreased sense of smell 90-100%
IX/X - Swallowing difficulties, aspiration  70%-90%
VII - Facial palsy (one side or both)  40%

CHARGE outer ear-  Short, wide ear with little or no lobe, "snipped off" helix (outer fold), prominent antihelix (inner fold) which is discontinuous with tragus, triangular concha, decreased cartilage (floppy), often stick out, usually asymmetric - >50%

CHARGE middle ear- Malformed bones of the middle ear (ossicles): CAUSES CONDUCTIVE HEARING LOSS Common

CHARGE inner ear- Malformed cochlea (Mondini defect); small or absent semicircular canals: CAUSE HEARING LOSS AND BALANCE PROBLEMS

Tests/Diagnosis
Even though a gene for CHARGE syndrome has been discovered, the gene test is very expensive and isn't perfect -only about 2/3 of people with CHARGE have a positive gene test. Therefore, the diagnosis of CHARGE syndrome is still clinical - based on the medical features seen in the child. An evaluation for possible CHARGE syndrome should be made by a medical geneticist who is familiar with CHARGE. The clinical diagnosis is made using a combination of Major and Minor features. Major features are characteristics that are quite common in CHARGE syndrome but relatively rare in other conditions, and are, for the most part, diagnosable in the newborn period. Minor features are characteristics which are also common in CHARGE, but not quite as helpful in distinguishing CHARGE from other syndromes. They either are common in other conditions (e.g. heart defects), harder to diagnose consistently (e.g. typical CHARGE face), or may not be diagnosed until later (e.g. growth deficiency). Finally, there are "Other" features - these may be very important in terms of health and management, but are not very helpful in determining if a child has CHARGE syndrome or something else.

Treatments
All are likely to require medical and educational intervention for many years. Despite these seemingly insurmountable obstacles, children with CHARGE syndrome often far surpass their medical, physical, educational, and social expectations.

Resources
www.chargesyndrome.org

Burke's Story
Our son Burke was born with CHARGE syndrome. In the past 6 years of his life, he's undergone 8 surgeries and had multiple long term hospitalizations. Burke is a courageous, tenacious and loving little boy who has undeniably surpassed all expected "outcomes" that he was given along with his diagnosis of CHARGE syndrome. When Burke was 3 yrs old, we welcomed identical twin boys, Levi and Judah into our family. We are a bit crazy but have lots of support cause we need it!

Contributed by MOM Christina Nelsa

Polymicrogyria

Author: Mommies of Miracles
Date: Monday 07th of May 2012 05:00:00 PM

Overview
Polymicrogyria, means small fold of the brain.  She has bilateral Perisylvian PMG which is that it effects the sides of her brain on both sides, not all over.

Symptoms
The symptoms vary from one child to another, not visible from what the MRI shows but through development.

Our daughter has a motor and speech delay.  At 15 months she is very quiet and also not crawling or walking yet.  She does eat well and cognitively at a 15 month level.  Seizures are a possible symptom that we have thankfully not seen but could develop.

Tests/Diagnosis
She had a vertical rapid eye movement at 2 months due to her brain development and had a MRI & EEG done.
Through the MRI they found the PMG.

Treatments
No treatment other than working on the developmental issues utilizing PT, OT, Speech, Feeding, and Special Education through Early Intervention.

Resources
http://www.walshlab.org/
http://ghr.nlm.nih.gov/condition/polymicrogyria

Contributed by MOM Mandy Kresge

Menkes Disease

Author: Mommies of Miracles
Date: Monday 30th of April 2012 05:00:00 PM

Overview

Menkes disease is caused by a defective gene named ATPTA1 that regulates the metabolism of copper in the body. The disease primarily affects male infants. Copper accumulates at abnormally low levels in the liver and brain, but at higher than normal levels in the kidney and intestinal lining. Affected infants may be born prematurely, but appear healthy at birth and develop normally for 6 to 8 weeks.

Symptoms

Floppy muscle tone, seizures, and failure to thrive.  Menkes disease is also characterized by subnormal body temperature and strikingly peculiar hair, which is kinky, colorless or steel-colored, and breaks easily. There is often extensive neurodegeneration in the gray matter of the brain. Arteries in the brain may be twisted with frayed and split inner walls. This can lead to rupture or blockage of the arteries. Weakened bones (osteoporosis) may result in fractures.

Tests/Diagnosis

Newborn screening for this disorder is not available, and early detection is infrequent because the clinical signs of Menkes disease are subtle in the beginning, the disease is rarely treated early enough to make a significant difference. Recent research sponsored by the NINDS developed a blood test that could be given to newborns at risk for Menkes disease based on a positive family history for the disorder or other indications.

The test measures 4 different chemicals in the blood and, depending upon their levels, can accurately diagnose the presence of Menkes disease before symptoms appear.

Treatments

Study results showed higher survival rates for children given the earliest copper injection treatment and improved, if not normal. However, damage is usually already done since most children are not diagnosed before or right after birth.

Resources
National Institue of Neurological Disorders and Stroke, Eunice Kennedy Shriver National Institute of Child Health and Human Development, The Menkes Foundation

Matthew's Story
I had a normal pregnancy until I was 26 weeks pregnant. At that time, I began going into premature labor frequently. When I was 33 weeks pregnant, I went into labor and had my son, Matthew, on July 31, 2009. He was 4 lbs., 10 oz. and healthy. He was going to be able to leave the hospital with me but he did not know how to suck or swallow and spent two additional weeks in the hospital.

When Matthew came home from the hospital, he did great. Matthew hit all his milestones on time - and even hit some a little early, which is rare for a preemie. Around 10 weeks, he had his first seizure at his babysitter's house. Days later, he got transported to a children's hospital two hours away. He was diagnosed with Dandy-Walker Syndrome with epilepsy and sent home on seizure meds.

We spent the next 3 weeks in and out of the hospital for seizures. We felt like the hospital was not listening to us. We believed there was another problem that was not being addressed. It was almost like Matthew forgot how to do everything he had learned. He had not begun holding his head up before the first seizure and by this point he was about 3 1/2 months old and not even trying to hold it up. We begged our doctor to refer us to Le Bonheur Children's Medical Center in Memphis, TN.

We finally got an appointment with one of their neurologists. Matthew had an EEG but somehow his scheduling got messed up and we had to go back the next day for an MRI. That night, however, we got a call from the neurologist saying he was having seizures almost constantly even when we couldn't tell he was.

After a million tests (or so it felt like) and a little over a week in the hospital, he was unofficially diagnosed with Menkes Disease. A month later, we received the blood test results that were positive.

About 2 months later, we were told he would not live to see his first birthday. He was 6 months old at the time. Now he is almost 3 years old.

Matthew got a G-tube in November 2010 and was put on oxygen in February 2011 but he is still here. He is even in love with his hospice nurse that he has had since Oct. 2010. He is such a joy to all of us. He is our miracle baby.

I made this video about Matthew: http://www.youtube.com/watch?v=sdKklMhwJLY&feature=share

Contributed by MOM Whitney Hamilton - to read more about Matthew check out his Carepage or Facebook

Trichothiodystrophy

Author: Mommies of Miracles
Date: Monday 23rd of April 2012 05:00:00 PM

Overview
Trichothiodystrophy, which is commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is brittle hair that is sparse and easily broken. Most affected children have short stature compared to others their age. Intellectual disability and delayed development are common, although most affected individuals are highly social with an outgoing and engaging personality. Some have brain abnormalities that can be seen with imaging tests. Trichothiodystrophy is also associated with recurrent infections, particularly respiratory infections, which can be life-threatening. Other features of trichothiodystrophy can include dry, scaly skin (ichthyosis); abnormalities of the fingernails and toenails; clouding of the lens in both eyes from birth (congenital cataracts); poor coordination; and skeletal abnormalities.

About half of all people with trichothiodystrophy have a photosensitive form of the disorder, which causes them to be extremely sensitive to ultraviolet (UV) rays from sunlight. They develop a severe sunburn after spending just a few minutes in the sun. Trichothiodystrophy has an estimated incidence of about 1 in 1 million newborns in the United States and Europe. About 100 affected individuals have been reported worldwide.

Symptoms
The signs and symptoms of trichothiodystrophy vary widely. Mild cases may involve only the hair. More severe cases also cause delayed development, significant intellectual disability, and recurrent infections; severely affected individuals may survive only into infancy or early childhood.

Tests/Diagnosis
None available.

Treatments
There is currently no treatment with TTD.

Resources
http://ghr.nlm.nih.gov/condition/trichothiodystrophy


Contributed by MOM Ashley Cunningham

Barth Syndrome (BTHS)

Author: Mommies of Miracles
Date: Monday 16th of April 2012 05:00:00 PM

Overview: Barth syndrome (BTHS) is a rare, sex-linked genetic disorder of lipid metabolism that primarily affects males across different ethnicities. Typically, boys with BTHS present with hypotonia (low muscle tone) and dilatedcardiomyopathy (labored breathing, poor appetite, and/or slow weight gain) at or within the first few months after birth. Other important features of BTHS include bacterial infections because of neutropenia (a reduction in the number of white blood cells called neutrophils), muscle weakness, fatigue, and growth delay. Although most children with BTHS manifest all of these characteristics, some have only one or two of these abnormalities and, as a result, often are given incorrect diagnoses.
 
Symptoms:

Cardiomyopathy A weak heart muscle usually associated with enlargement of the heart (usually dilated with variable myocardial hypertrophy, sometimes with left ventricular noncompaction and/or endocardial fibroelastosis).

Neutropenia(Chronic, Cyclic, or Intermittent) A reduction in “neutrophils,” a type of white blood cell that is most important for fighting bacterial infections. Neutropenia may predispose an individual to mouth ulcers, fevers and bacterial infections such as bacterial pneumonia and skin abscesses.
Underdeveloped Skeletal Musculature and Muscle WeaknessAll muscles, including the heart, have a cellular deficiency which limits their ability to produce energy. Muscle weakness and increased exertional fatigue are characteristic findings in BTHS.

Growth DelayDuring childhood most affected individuals are below-average in height and weight. This is often assumed to be evidence of poor nutrition or other secondary effects of a chronic illness, but that is rarely the case. In fact, some of the common nutritional treatments are contra-indicated. Through BSF´s registry, we have observed a growth pattern similar to but often more severe than constitutional growth delay with accelerated growth to normal height during mid- to late- teenage years.
Exercise Intolerance
Cardiolipin Abnormalities
A failure of BTHS mitochondria to make adequate amounts of tetralinoleoyl-cardiolipin, an essential lipid (fat-like molecule) for normal mitochondrial structure and energy.

Like many genetic disorders, Barth syndrome is quite variable among different families and sometimes even within a single sibship. Whereas at least 80% of known patients with Barth syndrome manifest all four principal diagnostic criteria at some time during childhood, any or possibly even all of the cardinal findings may be absent in a boy with a proven mutation in the Barth gene. This variability in presentation of symptoms and severity in phenotype makes Barth syndrome a difficult disorder to diagnose. In absence of a family history of related illnesses, the clinician is presented with the challenge to diagnose a child who inherits the disorder through a spontaneous mutation. The diagnosis of Barth syndrome should be considered for any child or adult found to have any one of its four cardinal clinical characteristics, and evaluation for the other diagnostic criteria should be undertaken by obtaining the following studies: Quantitative urine organic acid analysis including quantification of 3-methylglutaconic acid (Type II) Complete blood count and differential Echocardiogram Analysis of growth parameters from birth

Treatments:
There is no specific treatment for BTHS, but each of the individual problems can be successfully controlled, and short stature often resolves after puberty.

Resources/Support and info at BSF:


Christopher's Story
Christopher was born with a congenital heart defect known as cardiomyopathy. At 22 months this was found to be caused by a rare X linked form of mitochondrial disease called Barth syndrome. His chances of survival were not good, and he was placed on hospice care. Much to his doctors amazement his cardiomyopathy improved. He still has many struggles including severe cyclic neutropenia and muscle weakness. He is a: living, breathing, daily reminder that miracles happen. His parents cherish every moment they have with him. His mother works hard to spread awareness about a disease she believes is severly underdiagnosed.

Contributed by MOM Kristi Pena- For more about Christoper, check out his Carepage

Rare Dysmotility Syndrome (RDS)

Author: Mommies of Miracles
Date: Monday 09th of April 2012 05:00:00 PM

Overview: Rare Dysmotility Syndrome is a rare gastric disorder (having to do with the gastrointestinal track).  This disorder causes the motility of the stomach and intestines to be extremely slow which often leading to not being able tolarate food.  It also causes slow gastric emptying -  taking a long time to be digested.  It's not certain if the cause is prematurity or genetic.  There is also belief that ascites may be related to this condition.  There are not many cases of RDS registered in the US.
Symptoms:

• Some of the known symptoms with RDS include:
• slow digestion
• weight loss
• failure to thrive
• swallowing problems and poor oral motor skills
• distended abdomen
• excessive gas or inability to pass gas
• reflux or GERD
• anorexia
• chronic constipation or diarrhea
• vomiting
• unable to tolerate feeding without distention.
• laboratory chemistries, unbalanced electrolytes

Testing/Diagnosis:  To diagnose RDS a doctor may order an upper or lower GI (an image study to observe the body and how it digests food.  Genetic testing as well as testing for Cystic Fibrosis is often order.  In some cases doctors may also request a biopsy of the intestines.  The best test to document delayed gastric emptying is a nuclear scintigraphy test (gastric emptying study). In this test a radiolabeled meal is ingested and the radioisotope is followed so that a time curve can be plotted to determine how long it takes for the stomach to empty. This is compared to a "normal" curve. Generally, a t1/2 (time it takes to empty half the meal) of greater than 90 minutes is considered abnormal.

Treatments:  Some medications may help with RDS, such as different types of anti bacterials to help kill the bacteria along the intestinal wall.  Feeding tubes (often J tubes in order to bypass the stomach completely) can help with the feed intolerance.  Often doctors will suggest/prescribe elemental formula's.  An elemental formula is one that is already broken down as it would be during normal digestion.  There are many different types of elemental formulas, some are more broken down than others. There are medications that can be used for treating these diseases, for example metoclopramide or cisapride, but these usually are of benefit in the milder cases. Because of the rarity of these diseases the management of patients usually is turned over to "sub - subspecialists," gastroenterologists with special expertise in disorders of motility.

Resources:http://www.nationwidechildrens.org/motility-center
http://www.pedsgi.org/
https://www.facebook.com/pages/PEDS-Pediatric-Digestion-and-Motility-Disorders-Society-Inchttp://www.inspire.com

Aizen's Story
 
We went through so much trying to figure out why our preemie, Aizen,  wouldn't eat.  We could not figure out why his tummy was so distented.  He was put through so many tests and lab work, all coming back negative.  The doctors finally diagnosed Dysmotility Syndrome. Even though they are not completely sure about the diagnosis, they are treating Aizen for this syndrome.  So far treatment has been successful.

Contributed by MOM Ashley Lembert

Fumaric aciduria (FA)

Author: Mommies of Miracles
Date: Monday 02nd of April 2012 05:00:00 PM

Overview: Fumarase deficiency (also known as Fumaric aciduria or FA) is extremely rare, with only thirteen diagnosed and identified cases worldwide until roughly 1990. (FA is an exceptionally rare condition characterized by a deficiency of the enzyme fumarate hydratase, leading to vast elevations of fumaric acid in the urine. Fumaric acid, or fumarate, is a metabolite in a cellular energy production pathway known as the Citric Acid Cycle or Kreb’s Cycle. In individuals with FA fumarate hydratase is deficient, disallowing fumarate to be converted into malate, the next step of the Kreb’s Cycle. Thus the pathophysiology of FA is intimately linked to cellular energy metabolism.

Characteristics/Symptoms: Fumarase deficiency causes encephalopathy, severe mental retardation, unusual facial features, brain malformation, and epileptic seizures due to an abnormally low amount of fumarase in cells. It can initially present with polyhydraminos on prenatal ultrasound. Affected neonates may demonstrate nonspecific signs of poor feeding and hypotonia. Laboratory findings in neonates may indicate polycythemia, leukopenia, or neutropenia. As they age, neurological deficits begin to manifest with seizures, dystonias, and severe developmental delay.

• Increased level of fumaric acid in urine
• Increased level of fumaric acid in blood
• Reduced muscle tone
• Psychomotor retardation
• Seizures
• Breathing problems
• Increased lactic acid levels in blood
• Increased ammonia levels in blood
• Brain malformations
• Unusual facial features 

Tests/Diagnosis: blood and urine laboratory chemistries, bladder, kidney and urinary imaging and laboratory values, and MRI

Treatment Options: Currently no known treatments other than management of symptoms, seizure control, various gross and fine motor therapies, possible pharmocological options for management of aciduria or lactic acid imbalances.  If mitochondrial in origin, mitochondrial protocols should be closely followed for emergency situations.

Support/Information:http://www.experienceproject.com/groups/Have-Fumaric-Aciduria/95269



Luc's Story: Right now hes not having any its truly a blessing he is a bright happy, healthy , baby hes a little behind with milestones but over all not doing to bad he has bad refux and digestion problems with is still a struggle but under control !!  He has seizures but nothing that is not controllable with what he's been hit with.  Overall is he doing well, but he is only 8 months old.  I hope he grows up to be a normal, healthy, happy baby child. We currently do not have any treatment options other than some homeopathic remedies such as organics, fish oil, homemade milk, osteopathy and massage, and many therapies.  Support is difficult to find, though some online support is available. I struggle with not knowing much about what we are facing or what we should be doing.

Reflex Anoxic Seizures

Author: Mommies of Miracles
Date: Monday 26th of March 2012 05:00:00 PM

Overview: Reflex Anoxic Seizures (RAS) is the term used for a particular fit which is neither epileptic nor due to cyanotic breath-holding, but which rather results from a brief stoppage of the heart through excessive activity of the vagus nerve. 

Symptoms: Any unexpected stimulus, such as pain, shock, fright, causes the heart and breathing to stop, the eyes to roll up into the head, the complexion to become deathly white, often blue around the mouth and under the eyes, the jaw to clench and the body to stiffen; sometimes the arms and legs jerk. After what seems like hours, but is probably less than 30 seconds, the body relaxes, the heart starts beating (sometimes very slowly initially) and the sufferer is unconscious. One or two minutes later the person may regain consciousness but can sometimes be unconscious for over an hour. Upon recovery the person may be very emotional and then fall into a deep sleep for two to three hours and looks extremely pale with dark circles under the eyes.

Tests/Diagnosis: The symptoms of RAS share common factors with a number of conditions, with the result that RAS is often misdiagnosed as temper tantrums, cyanotic breath holding (prolonged expiratory apnoea) or epilepsy.   EEG, ECG, Seizure logs and event videos, initial diagnosis of epilepsy, and medical family history review and evaluation.

Treatments: No cure, only treatment would be a pace maker in extreme cases.  Patients experiencing RAS should be treated with seizure precautions to avoid injury.  Often no treatment is required, but some studies have suggested that the drug atropine is effective in reducing the frequency of the attacks.  RAS usually get less frequent and eventually stops during childhood. Occasionally the attacks persist into early adult life.
Resources/Support: http://www.stars.org.uk/

Lewis's Story:Even now I cannot get used to these horrific events and the other side effects and syptoms.  Every time it happens my little boy looks dead, and even though I am told breathing will resume due to a fail-safe mechanism in the brain I always panic each time willing him to breath.  What makes it worse is the rarity of the condition thus people just don't understand what Lewis and myself go through, except in on-line support groups.

Tactile Defensiveness

Author: Mommies of Miracles
Date: Monday 19th of March 2012 04:56:00 PM

Overview: A largely unrecognized condition called Tactile Defensiveness, is a physical condition that renders one overly sensitive to certain touch sensations.

textured materials/items

"messy" things

vibrating toys, etc.

a hug

a kiss

certain clothing textures

rough or bumpy bed sheets

seams on socks

tags on shirts

light touch

hands or face being dirty

shoes and/or sandals

wind blowing on bare skin

bare feet touching grass or sand

 

Child becomes emotionally overwhelmed by daily routines such as putting on clothing, socks and shoes. Many children with tactile defensiveness will only use their fingertips (if they even DO touch certain things) when playing with sand, glue, paint, play-doh, food, glitter etc. Consequently, their play is limited and so is their ability to engage in learning experiences. Children may become fearful, avoid activities, withdraw, or act out as their body responds with a "fight-or-flight" response. These children are deeply bothered by sudden light touch sensations and may prefer not to be hugged,kissed or touched by others. They will also be more aware of subtle details such as seams, tags and buttons on clothing as well as having very strong objections to certain fabrics and textures. It is a symptom of Sensory Processing Disorder. 

 

Tests/Diagnosis:Children can be diagnosed with tactile defensiveness by therapists, early interventionists, developmental physicians, or neurologists through a variety of methods, namely responses to sensory stimuli and developmental evaluation. Tactile Defensiveness can be a single primary diagnosis or a "sub-diagnosis" of other conditions such as neurological disorders, neuromuscular conditions, brain malformations or anomolies, gobal developmental delays, Down Syndrome, CP, and autism to name a few. To date, the best two treatments available to help decrease tactile defensiveness are The Wilbarger Brushing Protocol and the use of deep pressure/weighted products (links to both are provided below). A child with tactile defensiveness needs to be in OT! They need to have the underlying sensory defensiveness addressed in order to achieve the proper developmental milestones and social interactions necessary. It will not go away on it's own. Coupled with OT, a good sensory diet and home program will help. You will find some ideas for activities/games/products to use and "how" to use them below:

• Occupational therapy
• Sand therapy
• Hippo-therapy
• The Wilbarger Protocol Brushing Method
• Cranial Sacral Therapy
• Naturopathy
• Sensory Therapy

 

Spinal Muscular Atrophy (SMA)

Author: Mommies of Miracles
Date: Monday 12th of March 2012 05:00:00 PM

Tyrosine Hydroxylase Deficiency Dopa Responsive Dystonia

Author: Mommies of Miracles
Date: Monday 05th of March 2012 05:00:00 PM

Overview:
Tyrosine hydroxylase (TH) deficiency is a rare metabolic disorder characterized by lack of the enzyme involved in converting the amino acid tyrosine to L-dopa. L-dopa is an important chemical in producing dopamine in the brain. Dopamine is the major neurotransmitter which facilitates motor control and movement. A neurotransmitter is an important chemical messenger that helps nerve cells to communicate properly to each other. TH is a critical enzyme in normal dopamine production, and when it is not working properly to produce enough dopamine, major neurologic abnormalities can occur. In addition, dopamine is also important in making two other important neurotransmitters in the brain and body, norepinephrine (noradrenaline) and epinephrine (adrenaline). When dopamine is critically low, these neurotransmitters may be low too. They play important roles in the brain in regulating attention, and they help to maintain normal blood pressure, body temperature and blood sugar .

Symptoms:
Mild: 
In the mildest cases, walking or running may be clumsy but little else may be noticed, at least initially. These symptoms may progress slowly as the child gets older, and may not initially be apparent. Sometimes, one side of the body may seem weaker, or the child may begin to walk up on their tiptoes due to some tightness of the leg muscles. Sometimes these children are diagnosed with cerebral palsy; other times they are simply considered clumsy or uncoordinated. Sometimes these children demonstrate some attentional difficulties in school. Essentially all children with mild symptoms are readily treated with medication.

Moderate: 
In moderately affected cases, the child may not be able to walk at all, or walking may be extremely difficult. Many children demonstrate unusual arm posturing or positions of their arms with attempts to walk or walk on their toes. Speech delay may be present. Many of these children are diagnosed with cerebral palsy of unknown cause. Some of these children may have involuntary eye movements problems. The majority of these children have an excellent response to treatment, but full benefit may take many months.

Severe: 
In the most severe cases, children are disabled and affected from early infancy. This is sometimes known as the infantile Parkinson’s disease variant. infants may demonstrate muscle tightness and rigidity, arching, tremor and poor muscle control, abnormal eye movements which may include involuntary eye deviation upward, downward or towards the nose. They may be diagnosed with intermittent strabismus (cross-eyed). They may have ptosis, or droopiness of the eyelids. Severe gastro problems at birth. delay, or difficulties feeding, chewing or swallowing. Constipation is common. While most children tend toward increased muscle tone (in the legs especially), there are children who have generalized low muscle tone, with poor head control and inability to sit unsupported. They may have torticollis, or involuntary deviation of the head and neck. They may have difficulty directing their hands to a toy, generating a flinging hand motion. Occasional children have been found to suffer from intermittent color changes, unexplained low body temperature or fevers, low blood sugar, and difficulty regulating blood pressure. These symptoms are more likely to occur during another illness the child may be experiencing. Children in the more severely affected group of patients are more difficult to treat, and several medications may be needed to treat symptoms. They are unusually vulnerable to side effects of the medications, which can result in excessive movement and irritability. Response may be slow, with some continued benefit over months to years, but may not result in the complete resolution of all symptoms.

Who gets TH deficiency?
It is unclear at present whether males or females are affected any differently. Only a few dozen cases have been identified to date worldwide as of 2008.

Testing/Diagnosis:
How is TH deficiency diagnosed?
At present, the only reliable and readily available way to diagnose TH deficiency is by analyzing the cerebrospinal fluid for neurotransmitter metabolites. This means your doctor will need to perform a spinal tap to obtain this fluid for analysis. It has to be carefully handled and placed on ice immediately or the results will not be valid. Therefore, it is important to find a doctor who is comfortable in performing this procedure. Once the diagnosis is suspected on the basis of cerebrospinal fluid studies, the diagnosis should be confirmed by analysis of the TH gene itself. This is because the study of the spinal fluid may lead one to strongly suspect the diagnosis, but there are other reasons why the spinal fluid dopamine metabolite levels could be low, including neurodegenerative disorders which lead to a loss of the cells in the brain that produce dopamine. Therefore, if your children has atypical clinical symptoms including seizures, oror fails to respond as expected to treatment, other disorders need to be considered. Your doctor will work with you in helping to sort out these issues.

How is TH deficiency treated?
The most well-established treatment for TH deficiency is to provide L-dopa to help restore normal dopamine levels. Dopamine itself cannot cross the blood-brain barrier directly, and so it is necessary to treat with a compound called L-dopa. L-dopa must be combined with another medication, carbidopa, in order for it to get into the brain properly. There is a commercially available medication called Sinemet which contains both carbidopa and L-dopa together in a single tablet. However, this preparation was designed to treat adults with Parkinson’s disease, and the dosage is much too high for many infants and young children with TH deficiency. Therefore, we often ask a pharmacist to order and compound special doses of L-dopa and carbidopa for our patients with this disorder. In general, it is advisable to start with no more than 5 to 10 mg Ldopa, combined with at least 15 to 25 mg carbidopa per dose depending on the size, age and severity of symptoms in the affected child. For some reason, the recessive form of dopa-responsive dystonia is very different from the dominantly inherited form in that children are much more likely to get excessive movement or irritability from low doses of L-dopa. Excessive starting doses of L-dopa can result in extreme irritability, sleeplessness or excessive sleepiness, vomiting or sudden intermittent or sustained jerking and twitching movements which can persist for several hours following a single dose. In children who are severely affected, less than one year of age, or prove intolerant of low dose L-dopa therapy, we typically recommend initial use of an anticholinergic agent such as trihexyphenidyl (Artane) to help reduce excessive muscle spasticity or rigidity. Anticholinergic agents can work in conjunction with dopaminergic agents to smooth out movements and reduce tremor. Adjunctive agents also include selegeline (Eldepryl), which is a monoamine oxidase Binhibitor which helps slow down the breakdown of dopamine in the body. Selegeline can greatly extend the timespan associated with L-dopa treatment, but can result in excessive movements; nausea, vomiting or reflux, or sleep disorder. It should generally be used only early in the day. There are other agents that your doctor may consider with similar mechanisms of action, and may be appropriate in the treatment of your particular child. It is important to remember that these agents all work together,  and the presence of side effects doesn’t necessarily indicate that a particular medication is bad, just that it or others need to be adjusted appropriately for your child’s needs. Physical and occupational therapy can be very helpful, particularly during the period of institution of medication to help your child adjust to the medications. Speech therapy is also indicated in some children.

References/Resources:
Althini S, Bengtsson H, Usoskin D, Soderstrom S, Kylberg A, Lindqvist
E, Chuva de
Sousa Lopes S, Olson L, Lindeberg J, Ebendal T. Normal nigrostriatal
innervation but
dopamine dysfunction in mice carrying hypomorphic tyrosine hydroxylase alleles.
Neurosci Res 2003 May 15;72(4):444-53.

www.pndassoc.org

Kathryn J. Swoboda, M.D. is a neurologist and geneticist working
closely with the PND association to establish a clinical database of
patients and families with TH deficiency to help us better understand
this disorder. Please contact Dr. Swoboda, Dr. Reyna or any of our
clinical coordinator associates if you, your patient or a family
member are interested in participating in the TH database and related
studies. Telephone: 801-585-9717, email swoboda@genetics.utah.edu

Olivia's Story

I had some complications through pregnancy starting around 34 weeks with non movement. We went through the normal procedures of stress test and the doctors agreed that I had passed all of them and sent me home. At 39 weeks I was induced and Olivia was born on August 4th 2010 @ 2:16 PM She was 7lbs 5oz and appeared to be healthy. The first couple of days was testing for me I knew that it was not ...normal that a child was throwing up as much as she was. The doctors said it was nothing to worry about that she just had extra fluid on her stomach making her sick. A week passed and I noticed that Olivia was sleeping 21 hours a day and still not keeping food down. She was looking skinny and pale. I made appointment with the peditrcian where he informed me that he was concerned about Olivias stomach and that she needed to go for a ultrasound. At our surprise Olivia's US came back normal. After finding nothing they scheduled her for a video swallowing study once again everything appeared normal. We were stumped and sent home. The months following would prove I wasnt worrying for nothing. Olivia went to high calorie formula and she was eating a half a ounce every half hour I couldnt even set her up or throw up would hit the wall. Frustrating YES! Around six months Despite the throwing up I started working with olivia in some of her motor skills. I notced her fist stayed clinched and that her legs were tight and in a frog leg position and I couldnt striaghten them. People started noticing that she was a little behind. We bruished it off as tummy problems but I was actually in denile.

At her nine month check up the doctor examined her and asked me normal questions is she sitting? no. Is she Rolling? No. and obviously not crawling. He stepped back and scratched his head and gave me a referal to First Steps Intervention. He didnt really give me an explanation why she would be delayed in all motor skills. During my consulatation with the PT she agreed with me that Olivia needed to see a Ortho and a Neurologist. We made an appointment with a Ortho where again he said everything is fine with her bones but she needs to see a Neurologist. That was the 2nd time that I had heard a Neurologist. To think that my daughter may have something wrong her brain saddened me deeply. 

In august 2011 we made an appointment with Cincinnati Childrens. It was a Saturday Clinic. We were there four hours where he gave her an extensive exam. When he was done I can remember asking "Could this just be a delay, and she will catch up?" He said unfourtnanly I do not think so . I think one of three things is happening with Olivia. One she could have CP, two it could Muscular Dystrophy, or three a mitchondrial disease. I clinched my teeth and lips tightly. He said Lets go ahead and scheduled a MRI and Bloodwork up. When he left the room to get the paperwork I threw my head in my hands and cried deeply. I can remember Roger wrapping his arm around me and saying "We will make it through this" I started blaming myself. Did I do something wrong during pregnancy? The end of August after celebrating her first birthday Olivias MRI was done. When Childrens gave me the results they simply said your daughter seemed to have a stroke and has CP. They told me hey its not progressive so she will only get better. OF course I cried. She was in PT OT and DI. They fitted her for AFOS in October where her ankles seemed to stablelize some. I was happy. Late October we Had went for Pizza and as we were leaving the Pizza place Olivia was screaming in a Unfamiler scream! All the way home she did this. When I got in the house I noticed Olivias leg was locked at the knee and I couldnt straighten it out It was extreamly scary. I called the PT she said don't worry its just a spasm from the AFOS lots of heat should take care of it. I called the doctor and he said he was concerned to video tape it. I did and emailed it to him. I received a phone call as soon as he seen the video and said get her in here. She is having Dystonia.

After extensive research on his part he came up with a few answers. It is rare for a child her age to have dystonia epsiodes like her. He decided to start her on a trial of sinamet (parkinsons meds) to see if she responded within days. I seen a new Olivia and no dystonia it was if she had been healed. Her anxiety and sensory issues seemed to be less. After three weeks of improvment Olivia was taken off Sinamet to prepare for a spinal tap to check the Levels of Dopamine in her CSF. The week off the medicine was miserble she went right back to dystonia and it came mostly in the evening. She was in pain. The doctor moved her Spinal up a week. He said if we waited she would be in the hospital. The spinal results are back. Normal dopamine in a child her age are 120-160 Olivias was 22. Wow! How wonder she cant move. They knew then that Olivia had been Misdiagnosed with CP.

We now know Olivia suffers from a rare neurotransmitter disease that effects the production of dopamine in her brain. Tyrosine Hydroxylase Def . It mimics CP. When they body doesnt convert certain enzymes to dopamean the body starts to go haywire. Your brain stops commnicating to your muscles. Your muscle become stiff causing painful episodes of dystonia. Olivia continues medication ( sinamet) same medication as parkinson paitients that help control symptoms she takes four times daily.  She is in Pt, OT, and DI weekly and is getting ready to see a special dystonia therapist at Childrens hopsital.  She is 18 months and has not taken any independent steps but has a walker and does crawl. She is a very determined baby. We have good and Bad Days. Although the medication controls symptoms it is far from a cure. Olivia's Symptoms are only reversed around 60% we believe they may increase to around 75% with therapy.  Olivias nuerotransmitter disease is expected to progress through the 2nd decade of life making mobilty a challenge everyday. Usually the onset of symptoms appear between age 6 and 9. Olivia has the rare form of infancy onset effecting less than 50 people worldwide. It effects movement, mood, anxiety, and sensory. Little is known about Tyrosine Hydroxylase Def DRD but it is being researched daily, and its my goal to spread awareness. I didn't choose this road but I know God has it laid out perfectly for Olivia and our family.

Contributed by MOM Melissa Phelps

Undiagnosed

Author: Mommies of Miracles
Date: Wednesday 29th of February 2012 06:07:00 AM

As part of Rare Disease Day, Mommies of Miracles would like to take a minute to recognize those of us that are still looking for answers.  Medicine advances everyday, yet there are still many of us dealing with conditions so complicated and rare that we are not able to get answers and help we need.  Below we share one family's story of their struggle to get a diagnosis for their son.  Please, while reading this post, try to think if you have any information or suggestions that may help this family.  If you do, you can comment here and/or email Mommies of Miracles.



My son, Joaquin, suffers from a rare, undiagnosed condition.  We are desperately searching for answers.  Below I will go over some of the things that we are seeing with my son, and hopefully someone out there can recognize some of these and provide us with some new ideas.  Thank you in advance for any help.

Here are 2 short videos that show Joaquin before and after:
Before
After

Symptoms 
tremors, generalized rigidity, foot deformity, microcephaly, swallowing and chewing problems, language problems, unusual eye movements.  He was a born a normal, healthy child.  These issues did not start until he was 3 years old- he just turned 4. 

Test/Diagnosis 
We have had MANY test run.  He has a normal MRI, analysis of laboratory normal neurotransmitters klinicum German Universities by lumbar puncture, quantification of blood and urine amino acids in normal, normal metabolic diseases, normal lactic acid, urine organic acids in normal, normal EEG, ultrasound normal abdominal, IVX normal, PKU normal, prolactin normal, normal celuloplasmina, copper in normal blood, normal cariograma, t3, t4, tsh, and normal PTH, vitamin B12 normal, uric and lactic acidu normal, rx thorax, pelvis, and extremities below normal, normal bone scintigraphy, normal somatosensory evoked potentials, resonance servocolumna normal, normal ammonium, total CK normal, normal ferritin c3c4, epstein barr normal PCR mycoplasma normal, simple normalherpes cytomegalovirus PCR 1 and 2 negative, negative virus type 6 erpes , Lupico anticuagulante normal, normal ASO, etc, etc, we will miss all, all tests, and are normal, we need only the genome sequence to drain hope.
 
Treatment
The only treatment he is currently receiving is grifoparkin (L-DOPA) 30mg a day
 
 Resources 
Clinica Las Condes, Indisa clinic, clinic davila, clinic san maria, san jose hospital, hospital j aguirre, Robert hospital river, hospital, clinic or Catholic. In Chile there is an entity specialized in these cases, no clinics around the country have been able to give a diagnosis for my son's illness. single entity but only REHABILITATION support is the telethon.


If any of the details in this description sound familiar to you, please post a comment and/or email Mommiesofmiracles@gmail.com.  This family needs our help.  Thank you, and hopefully together we can help make a difference for Joaquin.

Contributed by MOM Ignacio Garcia Collins

Dandy-Walker Syndrome

Author: Mommies of Miracles
Date: Tuesday 28th of February 2012 05:53:00 AM

Overview: 
Dandy-Walker Syndrome is a congenital brain malformation involving the cerebellum (an area at the back of the brain that controls movement) and the fluid-filled spaces around it. The key features of this syndrome are an enlargement of the fourth ventricle (a small channel that allows fluid to flow freely between the upper and lower areas of the brain and spinal cord), a partial or complete absence of the area of the brain between the two cerebellar hemispheres (cerebellar vermis), and cyst formation near the lowest part of the skull. An increase in the size of the fluid spaces surrounding the brain as well as an increase in pressure may also be present.

Symptoms: 
The syndrome can appear dramatically or develop unnoticed. Symptoms, which often occur in early infancy, include slow motor development and progressive enlargement of the skull. In older children, symptoms of increased intracranial pressure such as irritability and vomiting, and signs of cerebellar dysfunction such as unsteadiness, lack of muscle coordination, or jerky movements of the eyes may occur. Other symptoms include increased head circumference, bulging at the back of the skull, problems with the nerves that control the eyes, face and neck, and abnormal breathing patterns.

Dandy-Walker Syndrome is frequently associated with disorders of other areas of the central nervous system, including absence of the area made up of nerve fibers connecting the two cerebral hemispheres (corpus callosum) and malformations of the heart, face, limbs, fingers and toes.

Tests/Diagnosis: 
Dandy-Walker malformation is best diagnosed with the help of ultrasonography (US) and magnetic resonance imaging (MRI). US may be the initial examination performed because it can be done portably and without sedation, as well as allowing multiplanar imaging.[19, 20] US, however, is limited because it is heavily operator-dependent. Abnormalities such as the gyral, dural, tentorial, and skull anomalies that accompany Dandy-Walker malformations are not clearly depicted by US.
Treatments: Treatment for individuals with Dandy-Walker Syndrome generally consists of treating the associated problems, if needed. A surgical procedure called a shunt may be required to drain off excess fluid within the brain. This will reduce intracranial pressure and help control swelling. Parents of children with Dandy-Walker Syndrome may benefit from genetic counseling if they intend to have more children.

Resources:  

http://www.dandy-walker.org
http://www.hydroassoc.org
http://www.rarediseases.org
http://www.ninds.nih.gov

Will's Story: 
In May of 2011 we were blessed with a healthy baby boy. It wasn’t until he was 4 weeks old that we started having concerns about William’s health. He wasn’t eating enough to gain weight, he was extremely pale, and his eyes were sunk back into his head. It was then that he was diagnosed with failure to thrive and hospitalized.  While in the hospital they performed many tests in an attempt to discover why Will was not growing.   The tests revealed nothing more than a healthy baby boy.  While in the hospital they developed a special high calorie formula to try to get him to gain weight.   After a week his weight was gaining slightly and we were sent home with the high calorie formula and no answer on what was causing the failure to thrive.   A month later he was hospitalized again for not gaining weight.   More tests were run with no answers and we were sent back home again with a high calorie formula and more questions, but no answers.   A month later we back on the same course and back in the hospital.  After another week they could not find anything wrong and sent us back home.

At this point we have been in the hospital three times with no answers.  So at this point we took our Doctors advice and fired them.  Next we found a new pediatrician.   The new doctor was the same as the others because she too did not know what was wrong with Will.   The difference was this doctor took an aggressive approach to my child and began setting up appointments with a series of specialists.   The semi breakthrough took place after the appointment with neurology.   An MRI was run.   The results showed a malformation in the cerebellum know as Dandy-Walker syndrome.   In other words his brain did not develop normally which causes delay in development of motor skills.   It was only a semi breakthrough because the doctor firmly believes that the Dandy-Walker is not the only cause but instead is a symptom of a greater problem.

In September Will had surgery to put in a feeding tube and a Nissan.   Both procedures were a success.  The Nissan has helped with Will’s acid reflux.  And the feeding tube allows us to feed Will small amounts over a large time span.   This has allowed Will to gain weight and continue gaining weight.

The new diagnosis is leaning towards disease of the cilia.   Ciliopathy is a genetic disease in which the cilia of the body do not work correctly.   Unfortunately there is no cure for cilia related diseases.  Only treatment is of the symptoms that appear.

Through Will’s journey I have learned to never give up and always fight for your little miracle.

Contributed by MOM Admin Natalie Albers