Claire 4 Rare Meets Joshua

Welcome back to Claire 4 Rare! This month’s story is very special to me. This family and this little boy have been an inspiration to me in the past and continue to be on a daily basis. I’m so excited to share Joshua Burnett’s beautiful story. 

Joshua is an adorable and curious brown-eyed three-year old with a big family and a house full of love and laughter. He is the fifth of six children born to seemingly indestructible parents, Dan and Shelley Burnett. Joshua was born with two rare genetic deletions. These deletions are so rare that there is no name for them, so they are referred to as Chromosome 6 Deletion Syndrome and Chromosome 2 Deletion Syndrome. Joshua’s Chromosome 6 deletion is the larger and more impactful of the two. That deletion alone is fairly rare. With the addition of the second deletion, Joshua is the only child his parents know with his combination of deletions, making Joshua the rarest of the rare. 

During Shelley’s pregnancy with Joshua, he had Intrauterine Growth Restriction. Because he wasn’t growing right, there was a 30% chance that there was something wrong with his health. Once he was born, they discovered one issue after another during his six week stay in various NICUs. Genetic testing was done and Joshua’s parents were given a diagnosis but knew little about what to expect because of the lack of knowledge and data specific rare deletions; so common with many rare diseases. 

Today, Joshua is doing well and growing everyday, physically and mentally. While he does still have some ongoing medical needs, he has no problem keeping up with his fellow fun-seeking siblings. He continues to see a few specialties regularly. Those specialties include; Cardiology, Pulmonology, ENT, Ophthalmology, GI, Urology. Joshua

also has a g-tube, so feeding is an ongoing issue. Additionally, he has a Global Developmental Delay, so he regularly works with PT, OT, and Speech therapies. As far as long-term prognosis, Joshua’s family knows that his rare disease will have life-long impacts but they are unsure what the future holds. Joshua’s mom, Shelley says, “We prepare for the worst and hope for the best.” This is a common everyday saying in the rare disease community, so often used by my own mom! Genetics has come a long way but there is still so much to understand regarding these unique children. Joshua has been fortunate enough to have doctors who will research what they can, and who aren’t afraid to admit when they don’t know. This in itself is hard to come by in the rare community as doctors and other medical professionals tend to overlook the rare conditions by no fault of their own. The rarer the disease, the less funding it has resulting in less research and ultimately an overall lack of information. Each individual rare disease is exactly that. Rare. However, if all of the people with rare diseases lived in one country, it would be the world’s third most populated country. Joshua’s parents hope for the understanding of these conditions to become better documented and understood which is why raising awareness and sharing rare diseases stories like his are so very important. 

For Shelley and Dan, being a parent to a child with a rare disease has been eye-opening. They’ve become quite medically well-versed and have learned how to do quite a lot of caretaking. Shelley stated, “At first, I just prayed that I would wake up from a bad dream – nobody wishes for their child to be born and have struggles. But we’ve grown to see the beauty and blessing in Joshua exactly as he is.” These words cannot

be any truer. Anyone who knows Joshua knows that he is a bright shining light in a world of abounding ordinaries. 

What does “rare” mean to you? 

To me, RARE means a child who has been wonderfully and uniquely made, but who is dealing with an incredibly uncommon set of challenges, whether they be medical, physical, developmental, cognitive, or some combination of all of those. 

If you are living with a rare disease or know someone who is, please contact me at claire.bevec@harmony4hope.org. I would be honored to share their story here! If you don’t feel ready to do so, that’s ok too. I would be so happy to just meet and chat with you. I understand sometimes it’s hard to find someone to talk to who also knows what living with a rare disease is really like. We’re rare, but we’re there!

You Can Contact Claire at: claire.bevec@harmony4hope.org