May 16, 2018
Shortly after birth, it was noticed that the participant had a large indentation of the skin on his lower back (sacral dimple) and large spaces between the bones of his skull (large fontanelles), but ultrasounds of the spine and head were normal. He was also found to have abnormal breathing (stridor) and required surgery at 4 months to correct this. After surgery, the participant had weak cartilage in the walls of the larynx (laryngomalacia) and developed difficulty breathing while sleeping (sleep apnea) at 7 months.
The participant started walking at 18 months and began to show an unstable gait and toe walking. To help with his walking, he began to wear ankle and foot orthoses (AFOs) and still wears them today. Currently the participant can walk short distances, but tires easily and struggles with fatigue.
Some of his other symptoms include recurrent ear infections (otitis media), hay fever (allergic rhinitis), and discoloration of the back of the eye (unusual macular pigmentation, abnormality of retinal pigmentation). The participant also has right hearing impairment and right sided weakness.
If this participant sounds like you or someone you know, please contact us!
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