mi-RARE-cle

baby_bloggerEach Monday we feature a rare disorder, diagnosis, disease, and/or condition. On occassion, we will also feature families looking for answers for their child’s undiagnosed condition. The posts are written in the heartfelt words of our families who volunteer their time to submit their stories and photos. Our mi-RARE-cles blog highlights the disorder, it’s clinical presentation (symptoms), how it is diagnosed, treatment options, and where to seek support and expert medical advice. To submit a mi-RARE-cles blog post please click on the following link (or on the photo just below this message) and follow the instructions. We ask that you be as detailed as possible because you never know who you may be helping by sharing your story: Submit a mi-RARE-cle

Spina Bifida, Myelomeningocele

Overview: Bifida is the most common permanently disabling birth defect in the United States. Spina Bifida literally means “split spine.” Spina Bifida happens when a baby is in the womb and the spinal column does not close all of the way. Myelomeningocele is the most severe form of Spina Bifida ...
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22q11.2 Deletion Syndrome

Overview: Missing part of Chromosome 22…can be a random genetic mutation…first in the family…or a person that has it has a 50% chance of passing it on to their children. Gives rise to a variety of symptoms, ranging in severity. Symptoms: Growth, heart, kidney, spine, calcium, feeding, developmental, speech, immune ...
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Congenital Talipes Equinovarus (CTEV) commonly known as ”Clubfoot”

Overview: Clubfoot is a relatively common birth defect, affecting 1/750 births worldwide. Clubfoot is an idiopathic condition, meaning the cause is unknown. Clubfoot, also called Congenital Talipes Equinovarus (CTEV), {C-congenital-present at birth, T-talipes-foot and ankle, E-equino-foot pointing down, V-varus-heel turning inward} is a congenital deformity involving one foot or both ...
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Hydrocephalus

Overview: Tristan, our Treasure, is 11 years old. She has been diagnosed with a list of things. Symptoms: There are many different symptoms that Tristan has had as part of all her diagnosis’. Testing/Diagnosis: Born with Hydrocephalus, Chronic Asthma, Pulmonary Valve Stenosis, Heart Murmur, & some other things. Treatment: Tristan’ ...
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Developmentally Cognitively Delayed

Overview: 9 years ago, my daughter Grace was born at 24 weeks. She was a micro-preemie. She had a tracheostomy,ventilator, oxygen, and feeing tube. Today, she is mechanically free, but does have DCD. She is in third grade, and is developmentally delayed for her age. Grace still has induced asthma ...
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Hydrocephalus, Arthrogryposis, Chronic lung disease

Overview: Hydrocephalus is a buildup of fluid inside the skull that leads to brain swelling. Hydrocephalus means ”water on the brain.” Symptoms: Symptoms of the diagnosis- this is not specific to your child. Testing/Diagnosis: Hydrocephalus thru MRI, Catscans, ultrasounds Arthrogryposis is presented at birth Treatment: Hydrocephalus has no cure only treatment ...
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Q21.1 Micro Duplacation

Overview: this is a chromosome disorder that can vary in symptoms Symptoms: Relatively large head Increased possibility of mild or moderate developmental delay Increased possibility of autism or autistic-like behaviour Slightly unusual facial features Heart problem Seizures Increased risk for other inborn anomalies Testing/Diagnosis: this is done by a blood ...
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Pyruvate Dehydrogenase Complex Deficiency (PDCD)

Overview: Pyruvate Dehydrogenase Complex Deficiency results from the deficiency of one or more of the pyruvate complex enzymes. In short, the body can no longer effectively metabolize carbohydrates and as a result the body’s ability to produce enough energy to run it’s systems is interrupted. Symptoms: The severity of symptom ...
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Muckle Wells Syndrome

Overview: Our little girl, Skyelah, was born with a rare disease that I had to keep pushing for answers & finally got an appointment at the NIH by the time she was 7 months old. Symptoms: spots, low grade fever, reflux Testing/Diagnosis: Arkansas Children’s Hospital, NIH Treatment: Anakinra, Ilaris Resources: ...
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Traumatic Brain Injury

Overview: My daughter was born healthy and normal. She suffered a traumatic brain injury at 2 1/2 years old, we still do not know exactly what happened that day. Symptoms: She is now unable to speak, walk or even sit up on her own. She has partial paralysis on the ...
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