Our Family's Journey So Far With a HIVEP2 Gene Mutation
My family is on a journey I didn’t expect to take, and a foundation of hope has been my north star. Our journey can be inspiring but also many times daunting, and if we become hopeless we will lose our way. I would like to honor my son by sharing part of his journey.
Curren has been seen by five neurologists, four geneticists, a neurogeneticist, two developmental specialists, a GI specialist, an ENT specialist, two ophthalmologists, a orthopedist, two othotists, a podiatrist, two psychologists, two pediatricians, four physical therapists, two occupational therapists, and two speech therapists; this has all been in the first three years of life. Beginning about two years ago, Curren ramped up therapy to five days a week, sometimes up to four hours in one day. He is a tough cookie, and he works hard every day. Sometimes he forgets how to do the things he learns, but Curren never gives up.
Curren was born with a mutation in his HIVEP2 gene, but he was not diagnosed until he was 2 years old, after a long diagnostic journey. When reviewing his birth records, I noticed they recorded abnormal hypotonic behavior and muscular tone upon his first evaluation, but it was actually Curren’s daycare that told me his muscle tone was not “normal” four months later. Between his low tone and difficulty with brain signaling, Curren has a hard time controlling movement, especially in his legs. And although his muscles are strong enough to do it, Curren hasn’t been able to crawl, pull up, or walk yet. He is, however, doing fantastic in his new wheelchair, and we are planning to get a mobile stander which supports Curren in a standing position but has wheels like a wheelchair so he can move around and be at the level of his peers. Many people ask if Curren will ever walk, and it’s a challenging question to answer. There is no way to know, but I have hope that he will.
We have been blessed with good health over the past year, but that wasn’t always the case. Curren was first sick when he was 4 weeks old and was on antibiotics over 20 times during the first year and a half of life. He was diagnosed with reactive airway disorder at 4 months old, when he was in the hospital for respiratory distress. Curren also experienced a seizure and metabolic crisis event when he was 2. Many of the other children with HIVEP2 disorder experience GI issues, but the only problem we have experienced is a “failure to thrive” diagnosis based on Curren’s slow growth. We are also fortunate so far to have good reports from the ophthalmologist, as eye problems are common for our community.
Like many others with HIVEP2, Curren is on the autism spectrum. He is motivated by social experiences but experiences regressions, language disorder, sensory integration disorder, and obsessive-compulsive disorder. Curren is nonverbal, and it is so difficult for a child who has so much to say to not be able to say any of it out loud. He understands what is going on around him, and he has intent for his legs, hands, and mouth to do certain things, but the message seems to get scrambled and the action doesn’t happen the way it should. Lately, I ask Curren to touch his head (which is actually challenging for him since he can’t see it) and he starts clapping. I can tell from the look on his face that he is not thinking about clapping and is confused why his hands aren’t touching his head, but the directions from his brain don’t seem to be delivering the right message. I see this also in his speech. Once when we were in the hospital, and he was over it, he said clear as day, “all done” but hasn’t said it again in over a year. I can’t imagine the frustration to have this disconnect between your brain and your body, but my son handles it incredibly.
On this journey, we have seen such kindness and compassion. It is so heartwarming to see Curren’s fans, rooting for him to not give up. Curren has an exceptional team of professionals caring for him and looking for answers. We are eternally grateful to the doctors and therapists that are making a difference in Curren’s life. It is not always an easy journey, but the people who support Curren do make hope feel more grounded. I am also so very proud of my son for the tremendous effort he puts forth and for his beautiful spirit that has not been subdued. I have hope for the future and what it holds!
Follow this journey on Hope for HIVEP2.
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