Jonah is a 7-year-old bundle of energy and enthusiasm who is challenged by short telomeres. Since birth, Jonah has struggled to meet standard milestones, especially in terms of language and psychomotor skills. An early diagnosis of pontocerebellar hypoplasia (PHC) was followed by genetic testing, the results of which revealed a PARN deletion. This missing gene is one of the key conditions for a diagnosis of dyskeratosis congenita (DC) – specifically, the severe and rare subtype, Hoyeraal-Hreidarsson (HH) syndrome. Of the classic triad of telltale symptoms for DC, Jonah has not yet presented the abnormal skin pigmentation, nor the nail dysplasia; oral leukoplakia, however, is evident.
Due to the implacable and progressive nature of this condition (high risk of bone marrow failure for those with DC), close monitoring of symptoms and periodic biopsies and blood-work are called for. With the attentive care of an excellent team of hematologists and other specialists at BC Children’s Hospital, Jonah and his family will be ready, when the need arises, for the bone marrow transplant that will save his life. Jonah has always had to work hard to develop skills that his peers master without much apparent effort – he didn’t learn to walk or talk until well into his 4th year. Cognitively, he remains slightly behind his peers, and he still struggles daily with sensing where his body is in space; his pediatrician once described this proprioceptive difficulty as being akin to walking on an air mattress everywhere you go.
Today, his health is miraculously stable. He has a fair amount of stamina, and is able to run short distances without walking aids. With his walker, he’s the fastest kid on the playground! His language comprehension is constantly surprising his parents and other caregivers; he’s talking in sentences, sharing ideas, stories, and jokes; he is gleefully reading at his grade level, and integrating new vocabulary into his speech every day; most astonishingly, he has surpassed his peers in his love for and aptitude in math.
Jonah is an unabashedly happy boy with an infectious joy for life. He exudes excitement, faces each day with gusto, and makes friends easily and indiscriminately wherever he goes. He loves to draw, to play pretend, to build complicated and towering edifices with his blocks. He tries to gamify everything, inventing whimsical rules on the fly for every mundane activity. He is endlessly creative and incredibly sweet. He sings constantly. He runs everywhere he can; he reads everything he sees; he greets and includes everyone he meets.
Due to financial uncertainties and the exceedingly rare nature of his condition, adequate, multifaceted therapeutic support has been sparse and difficult to secure. In March of 2022, Jonah and his family embarked on a new mission to remedy this shortfall: with the prolific lad’s ever-expanding portfolio of drawings in hand, they began to explore the world of nonfungible (NFT) art sales. A receptive Twitter community has, so far, helped raise over $12,000 for the therapies Jonah needs and deserves.