Daniel is a 22-year-old man from Florida. According to his mom, Carolyn, he is gentle, happy and easy to be with. Daniel loves music and has great rhythm. He's been playing the frame drum for nine years, and it's been a great outlet for him. You can see him in action on his youtube channel Daniel's Drum Beat. Daniel also loves to swim. In fact, living in Florida, they are in the pool as often as possible. Daniel wears a special neck ring (https://waterwaybabies.com/) to give him freedom in the water. Daniel was always the kid that everyone at school or camp wanted in their group. He recently started his first adult day program, and Carolyn’s heart is full when she sees how people respond to him and his excitement at being there. According to Carolyn, “It's a joy to be his mother.”

Variant c.4299G>A (p.Met1433Ile)

History

We had concerns beginning at birth. Daniel had difficulty sucking and had low tone. Early intervention was started at five months of age. At the time, Daniel’s only diagnosis was microcephaly, and since all testing was normal, we had no idea how his delays would eventually present. We worked to build muscle strength so that he could sit up, which he did within the first year. We used to put him on his knees in preparation for crawling, but he never crawled. Today, he walks with AFO's and support but relies primarily on his wheelchair. Daniel is non-verbal and communicates with sounds, gestures, expressions, and pointing. Unfortunately, it can be difficult when he is trying to tell us something, and we're not getting it. Most traditional and some non-traditional communication programs have been of little help because of his low vision and tendency to drum computer screens. We have found our own groove over the years.

Daniel had his first seizure at five months old. He was hospitalized with status epilepticus in 1999. Those were scary days! He did reasonably well on Tegretol for a few years and then began having partial complex seizures. During a seizure, his oxygen levels would drop, and he became pale and bluish, requiring 911 assistance when Diastat, our rescue drug, didn't work. He started Topiramate in 2000 and his epilepsy was completely controlled on it for 15 years. Since then, he has a seizure pattern that occurs every 4-6 weeks. We are working with a new neurologist now that he is in the adult system, and we're hoping to regain the control he once had.

Because there were concerns from birth, we were always looking for the root cause. In 2019, we were finally able to have whole exome sequencing done. In February 2020, we received the results showing a CACNA1A variant.

Diagnoses

• Microcephaly with thin corpus callosum

• Strabismus

• Nystagmus

• Esotropia

• Progressive Myopia

• Optic Nerve Hypoplasia

• Pituitary Dwarfism

Therapies & Education

All of the therapies Daniel's received throughout his childhood and teenage years were helpful in some way. He was in a program called MOVE (Mobility Opportunities Via Education) for many years through our public school system, which was critical for helping him with gross motor skills. His educators were all extremely dedicated to helping him reach his potential and I am grateful for them. Daniel is on the CDC plus waiver in Florida. We have help with personal care and a budget for the adult day program he attends.

For Those Newly Diagnosed

Find your tribe. The mothers and the few dads I have met in online support groups were my lifelines in the early days, and some became dear friends. Know that you'll be ok. Find courage wherever you can. For me, that was in the lives of others in my shoes. Find joy in the little successes. Talk honestly about your fears, and don't minimize your needs. Try not to compare your circumstances with the typical families around you. Be kind to yourself.

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