Words and photos shared with permission.
This week I’d like to feature Kimball who has an extremely rare form of dwarfism called chondrodysplasia x-linked, type 1. Like most skeletal dysplasias, CDPX1 involves “abnormal cartilage and bone growth.”
Through the power of social media, I have the pleasure of connecting with Kimball’s mom, Madeline. I have enjoyed learning about this beautiful little boy. His strengths and struggles are inspiring and heartwarming. He is rare but also just like every other almost two year old in many ways.
Kimball’s mom says, “He is the sweetest little light. He is strong and has overcome a lot of suffering and struggles. Kimball is adored by all who meet him. He is a lover of hats (often improvising with anything he can find to put on his head), and loves making people laugh. The joy Kimball brings to our family far out-weighs the struggles we have faced together due to his birth-defects. He is a very loved and special boy.”
There are only 125 known cases of CDPX1 worldwide. After genetic testing confirmed Kimball’s deletion of the gene associated with CDPX1, his mom and his grandma were both found positive with the same deletion. Because it is x-linked, neither his mom or grandma had any symptoms of the syndrome; females have two X chromosomes so their bodies use the healthy one while males have only one and therefore exhibit symptoms. CDPX1 is found exclusively in males and can either be inherited or a random mutation; in Kimball’s case it is familial.
Kimball’s little body is very affected by his deletion, although there are other children with his diagnosis that have a more severe form. Like all forms of skeletal dysplasia, it mainly affects his bones. He has shorter limbs and will be overall much smaller than his average height peers. Sweet Kimball started on the growth charts and then promptly dropped right off. It is thought that he may grow to be between 4-5 feet, but there is very little research on CDPX1 because of it’s rareness. One characteristic of this syndrome is that some joints and bones are not completely hardened. Kimball’s cervical spine is not hardened which can be really dangerous. This causes him to be at high risk of compression of his spinal cord which could result in paralysis or death! He wears a cervical collar his mom sewed for him. It is stuffed with high density memory foam to keep him safe. His neurosurgeon gave it the green light. This was a great victory for their family since it allows for more movement and is worlds more comfortable than typical cervical collars. They plan to have his spine fused (surgically hardened) when he is 4 years old.
Kimball also has no nasal bone! This has created a lot of issues for him because his nasal airway is so restricted and narrow with nothing to hold it open. He has been hospitalized over common colds in order to keep his airway open. Kimball has also undergone several failed surgeries to open his nose up. This is a really rare birth defect so treating it has been an adventure full of experiments! Because of his narrow airway, Kimball was tube-fed for the first year of life. Not being able to breathe through his nose complicated bottle or breast feeding! Many children with his syndrome have tracheostomies.
Kimball also has hearing loss due to deformities in the bones of his ear which help with hearing. He wears cute tiny hearing aids and responds really well to sounds! Kimball is working with a therapist from the school for the deaf in order to give him an extra boost in learning spoken language, and he is really excelling.
Part of Kimball’s diagnosis causes vision loss due to optic nerve hypoplasia: a shortened nerve connecting the eye to the brain. This condition has a huge spectrum ranging from very minor vision loss to blindness. His vision has improved immensely over his almost two years of life. It is still unclear how well Kimball can see since there are no tests they use to determine his vision loss until he can speak. Surgery and glasses do not improve vision-loss caused by optic nerve hypoplasia.
Kimball also has low-muscle tone. This essentially means it takes a lot more work on his part to accomplish gross-motor milestones. He is now crawling and pulling to stand which is a great triumph! His parents are expecting him to walk by the time he is 3 years old, as is typical with other kiddos with CDPX1.
CDPX1 does not cause cognitive delays or neurological abnormalities.
Because of Kimball’s extra challenges, he sees many therapists and doctors on a regular basis. For therapies he sees an occupational therapist, feeding therapist, developmental specialist, hearing specialist and deaf/blind specialist. There are varying degrees of severity within this diagnosis and like all skeletal dysplasias there is no cure (thank goodness) but, there are techniques and medical treatments to manage symptoms.
Thank you so much for sharing your rare and precious gift! Kimball is a light and strength like no other.