In 2008, Jay and Christine Carr joyfully welcomed their third child, Bryan, with high hopes for his future. Born without complications, Bryan first concerned his family with developmental delays at 6 months. By the time he was 10 months old, when most babies are crawling and attempting their first steps, Bryan could not sit up. Through several years of doctor’s visits, therapy, and medication, Bryan made slow progress and finally walked at two and a half years old. However, he continued to suffer from repeated infections, culminating in fungal and staph ear infections followed by a severe case of shingles.
“It was the worst case of shingles I have ever seen,” says Bryan’s mother, Christine, who also happens to be a Nurse Anesthetist. “It literally felt like death was creeping around the corner, waiting for the right moment to strike our son.”
Tirelessly researching every possible cause of Bryan’s neurological problems and mysterious immune dysfunction, Christine found some relief for Bryan by discovering he was gluten intolerant. By going “gluten free” and, eventually, adopting the GAPS diet, a strict diet of natural and probiotic rich foods, Bryan experienced improvement in certain neurological symptoms and a long-desired reprieve from his frequent infections.
Christine says, “Though following the diet is cumbersome, it gave us breathing room, a chance to focus on therapy and find time to continue searching for answers.”
Their answer finally came on February 3, 2012. Just days after a long series of tests, one lab result triggered a series of urgent lab tests, which resulted in the diagnosis: Purine Nucleoside Phosphorylase (PNP) Deficiency, which is an extremely rare genetic disease, with less than 55 known cases in the world since 1975. Bryan’s parents were suddenly faced with the knowledge that their son would not live past childhood unless he survived chemotherapy and a costly bone marrow transplant.
In order to save his life, the doctors will have to wipe out the small bit of functioning immune system left and replace it with a new one. This new immune system will make the enzyme he is missing, and allow him to fight off infection like any healthy person.
Bryan and his parents will travel to Duke University in Durham, NC and plan to live there for the next 6 months while Bryan receives his chemotherapy and transplant, which will be supplied by an unrelated umbilical cord blood donor.
Says Bryan’s father, Jay, “We know that a cord blood transplant is risky and dangerous. Yet, we are so grateful for the miracle we know God has in store for our little boy.”
The Carrs plan to move Bryan’s three siblings to Durham this summer, so they can also be a part of Bryan’s journey and healing. Both parents stress the importance of keeping their family together as much as possible.
“I am honored with the privilege God gave Jay and me to care for this special little boy. His mercy has seen Bryan live to have his 4th birthday, and I pray there are many, many more. I am truly grateful for and humbled by all the prayers so many people have lifted up on behalf of our son,” says Christine.
Their four year journey to find answers for Bryan used up nearly all of their financial resources. Though Jay and Christine have good insurance, they now face an additional $100,000 in out-of-pocket costs related to the upcoming transplant and treatment. Fortunately, they are now partnered with Children’s Organ Transplant Association (www.COTA.org), whose focus is to help families facing transplant and treatment effectively raise funds so they can focus on healing, not the stress of bills and potential of losing their home. With such a large community of wonderful and supportive people, any gift will benefit Bryan’s long road to life!
Bryan’s blog, with updates, prayer requests, and fundraising information can be found at: