Ray B.K.

Ray was born on 30th March 2009, in Portland, Oregon. He had two older siblings who were thrilled when he was born. He was the first and only biological child of his parents.

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He was born in an emergency c-section due to breech presentation and what we later realised was hypotonia in the womb. It took a couple of weeks to fully figure out that there was something wrong. The first clue, (there from the start), was that he wasn’t able to get any milk when breastfeeding and was rapidly losing weight. It was a lactation consultant who determined when he was two weeks old that he had hypotonia. The doctors took a closer look and noticed mild signs of a likely genetic syndrome.

Ray had a high-arched palate, macrocephaly, hypotonia, undescended testicles, micrognathia, strabismus, torticollis, and a few other indicators. His first year of life he had obstructive apnea, frequent but mild seizures, and had reflexes missing and clear neurological differences. He was fed through a syringe or special needs feeder until he was seven months old. Lots of testing for everything happened that first year. Nothing came up as a match.

Ray was globally delayed. He smiled at five months, sat at 11 months, crawled at 18, walked at two years, and began talking late. During those early years, the doctors told us that it was unclear whether he would EVER walk or talk. We just kept doing therapies, loving him, and interacting with as much presence as we could muster….hoping for the best while preparing for the worst.

When Ray became toddler age, he began to show signs of “atypical autism”- spacing out and not noticing people around him, sensory sensitivities, social issues, special interests. Luckily, he stopped having seizures after that first year. Before Ray was 3 1/2, doctors felt that his neuromuscular condition was only “brain-based” and static. Meaning, it wouldn’t get worse. Later, we would find out that it was more complicated than that. Ray’s mom took him to The Hypotonia Clinic at Johns Hopkins at 12 months and 18 months. They too could not diagnose him. They thought he had some type of connective tissue disorder because of his translucent skin, joint laxity, and overall presentation. In Ray’s earlier years, he was also prone to respiratory illness, pneumonia, and frequent sickness. When Ray was treated for congenital tickborne illness at eight (an additional condition contracted unknowingly from his mom in the womb), his immune system immediately improved, and he began gaining weight and stopped being seen as “failure to thrive”.

In the month of June, when Ray was 3 1/2, he stopped being able to walk and began crawling. His stamina decreased and he had to lie down after playing for 15 minutes, and rest for 30 minutes before getting up again. This lasted throughout the summer and slowly got worse. His parents could not get him in to see a specialist and were worried he was dying. In July he began stuttering constantly. In August he was at his weakest. Late in August, he had three seizures within 24 hours and then, his strength and stamina began to improve, and he no longer stuttered. He got back to baseline neuromuscularly, but seemed to have some slight cognitive changes.

Doctors began to suspect a mitochondrial disorder again. A muscle biopsy was done and we saw a mitochondrial specialist. While the specialist suspected mito, nothing was confirmed and insurance would not pay for further specialist care. Insurance would also not pay for the whole exome/genome testing that was needed. Ray’s mother decided that she would move heaven and earth to figure out how to help her child. At the United Mitochondrial Foundation conference in CA, Ray’s mother learned of a study at the National Institute of Health under Dr. Karsten Bonneman, that was looking to find the unknown causes of neuromuscular diseases that present in childhood. If enrolled, the NIH would pay for all necessary diagnostic testing. Ray was enrolled in the study, and he and his family went to the NIH when he was five. At the NIH, a muscle ultrasound was done that found that Ray had myopathic muscle fibers. They suspected that Ray had a form of congenital myopathy. Thorough testing was done, and it again led to no answers.

Ray’s neuromuscular function was stable between the ages of 3 1/2 and 10. When he was 10, he began to have another muscular regression. This time it lasted two years. While he could still walk this time, he could no longer climb stairs, get up off the floor, or walk farther than 50 feet without being completely exhausted and weaving about. He needed to use an electric scooter or wheelchair often to do things in the world. Ray and his family went back to the NIH and gave samples of tissue. They did more testing and again it produced no results. The team at the NIH then got to work with the tissue samples and genetic reports and  began sleuthing. They discovered that there was a group of kids affiliated with Yale University whose primary problematic symptom was intractable seizures, but who had a constellation of symptoms that matched Ray’s in some way (even though they presented as much more impacted than him in many ways). But what really tied these kids together was that they all had autosomal recessive mutations on the CRELD1 gene. CRELD1 was known to impact the heart, and was just starting to be associated with the immune system, but never before had it been associated with neuromuscular difference. This connection between the NIH and Yale, between Ray and the Yale kids based on the testing the NIH did, was what put CRELD1 on the map for genome testing in 2020. Now, CRELD1 mutations are called out in Gene testing where they were not before.

After the second visit to the NIH when Ray was 11, the doctors told us that they believed Ray would likely progressively get worse neuromuscularly, at an unknown rate, and to prepare that he could be in a wheelchair within a few years or by adulthood. This was based on the belief that the neuromuscular issues were due to an unknown congenital myopathy. However, shocking everyone, Ray’s muscular function went back to baseline again after a two-year regression. He is currently back to walking up stairs, and is able to function at school without a scooter or wheelchair. He is in the Boy Scouts, and while he needs accommodations, he is able to do many things. Due to some things learned about fellow CRELD1 Warrior (18 month old Colton), it is now thought that these muscular regressions may be due to an unknown congenital myasthenic condition. Ray shows signs of both congenital myasthenia and myopathy, and the medical community continues to be puzzled and need to learn from these kids. Ray and his family will go back to the NIH in Spring of 2023 to do more investigations.

Ray has not had seizures since he was 3 1/2 years old. In his teen years, he has begun to have regular episodes of syncopy, and needs to make sure that he does not stand too long or change posture too quickly. Because he is the only known CRELD1 Warrior who walks and talks and does not experience intractable seizures, much can be learned from him about the neuromuscular aspects of the mutation on the gene.

Ray attends a wonderful private school that is primarily for kids with autism. He has two skilled teachers and is in a class of six kids. His challenges these days are around slower processing and other mild learning and social differences, and he has been diagnosed with NVLD (nonverbal learning disorder). Ray’s intelligence is typical. It is unclear whether NVLD and it’s related challenges are due to CRELD1, or if they are a separate thing. Ray is a chess wiz! He loves playing board games, ball games such as basketball and 4-square, and hanging out with friends and family. He is highly verbal and has an advanced vocabulary.

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Ray is a curious, wonderful,wonder. He towers over his mother now (5 foot 9 at almost 14 years old), and is making his own lunches and works at the café at his school, where he has both made breakfast sandwiches to sell and ran the cash register and handled customer service.

Ray knows that the medical community will learn from him, and that what they learn may not help him during his lifetime. He is glad that what is learned from him will likely help other children and improve their outcomes. He knows that his prognosis in unknown.

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Ray and his family live life knowing that anything can change at any time, that we have to be grateful for today and that we must do our best to hope for the best and prepare for the worst as best we can.

We are deeply grateful for our fellow CRELD1 Warriors and the community we have. Through family connections and conversations, we have learned things that  are impacting the science.