Our two children, Brandon and Taylor, have both been affected by X-Linked SCID, Severe Combined Immune Deficiency, previously referred to as “The Bubble Boy Disease.”

A Tale of Two Boys

Brandon was my first son. His battle began in November of 1993 when he came down with his first cold.  He was 6 months old at the time and appeared to be a “normal” baby without any infections until we quickly learned that he did not respond to a cold like a “normal” baby would.  He was admitted to the hospital when he showed failure to thrive.  He had a difficult time eating, a rash on his face, thrush in his mouth, and his fingernails had turned blue.  Brandon did not respond to treatment and was quickly transferred from hospital to hospital, while the doctors battled for answers and some kind of a diagnosis.  Finally, after being in the hospital for 3 weeks the doctors came up with a “preliminary” diagnosis, SCID, or “The Bubble Boy Disease.”  Years ago I had seen the movie with John Travolta, but I never dreamed  I would someday lose my firstborn child to this devastating disease.  At this point, Brandon was on ECMO, a heart/lung bypass machine, suffered from Graft vs Host Disease, which he developed from the 13 blood transfusions he had received during his hospitalization and he had suffered from a stroke, paralyzing one side of his body.  In just 3 1/2  weeks, the cost to care for Brandon was well over $250,000 and that didn’t include any treatment, such as a Bone Marrow Transplant.  In fact at this point, the idea of a bone marrow transplant, the most common treatment for children with X-SCID at that time, wasn’t even an option presented to us for consideration.  Instead, we were told that we had to say good bye to our only child and turn off all machines.  Three and a half weeks after initially becoming ill, our precious ^Brandon^ passed away and became our SCID Angel For Life.  On December 14, 1993 he earned his ^^ wings.

Thankfully, Taylor’s story is VERY different from ^Brandon’s^. Since we now knew I was a carrier of SCID, the odds for each pregnancy of having another X-SCID child is 1 in 4. Because of the risk of having another affected child we opted to have a CVS (chorionic villi sampling) test done as early as possible during our next pregnancy. This was done at 10 weeks at Hutzel Hospital in Detroit, MI. The next day we were notified that the baby I was carrying was a boy. Suddenly, our odds of having another SCID baby went from 1 in 4 to 1 in 2. Either he would be healthy or he would be born with SCID.  We had already done quite a bit of research on SCID after losing ^Brandon^ and we knew that a BMT (bone marrow transplant) was our only option at that time to treat our new baby boy. However, what we didn’t know was that the bone marrow transplant could actually be done in-utero, while I was still pregnant! And if that wasn’t amazing enough news the transplant could actually be done in Detroit, just two hours away from our home. The only catch to this story was that the procedure had never actually been done successfully on a fetus before. Our physician, Dr. Alan Flake, had been doing research in the lab on sheep and was waiting for the “perfect patient.” That would be us! At 16, 17.5 & 18.5 weeks gestation three separate stem cell transplants were performed with his father being the stem cell donor. The neat thing about this procedure is that you don’t need a perfect matched donor, a half-matched parent works just fine. Also, because you’re doing the procedure before the fetus has developed it’s own immune system, the risk of GvHD (graft vs host disease – where the body rejects the donor marrow, attacks it and reacts to it like it is foreign) is almost zero. You also are not subject to being put in reverse isolation like you would be with a traditional BMT. The womb is the ideal isolated protective environment for the remainder of the pregnancy. Because of all of the above-mentioned reasons, we decided to go ahead with this “experimental procedure” and if it didn’t work, our plan B was to do a traditional BMT within the first three months of birth. At 36 weeks Taylor was born via C-section weighing 4 pounds 3 ounces and was 17 3/4 inches long. The cord blood was immediately tested at birth and the preliminary results were extremely positive. It looked like the transplant was a success.  Taylor remained in the hospital for three weeks before he was released to go home.  At home, we remained in isolation for several months until we got the call from Dr. Flake on November 21, 1995, stating that “Taylor’s treatment was a success and he could gradually be introduced to the outside world.”

That meant we could leave the house with him and take him to the park, out to dinner, to the mall and finally over to visit his relatives. Taylor continued to thrive for years to come, even graduating High School and college. Taylor’s only medication growing up was an infusion of Gamma Globulin every three weeks, better known as IVIG. IVIG is a blood product that provides people with weakened immune systems the antibodies they are missing to keep them healthy and fight off infections. Compared to many SCID kids, Taylor has really had an “easy” time of it. It wasn’t until he was 22 years old, during our annual Immunology visit, that we discovered this were starting to change and the T cells his father had donated to him were slowly “losing steam.”  Although he wasn’t getting sick and looked healthy, his lab work was painting a different picture. We quickly sought the opinion of SCID experts from across the country and they all agreed it was only a matter of time before Taylor would start to get sick because of the significantly low number of T cells he had remaining.

In December of 2018 Taylor signed consent forms to participate in a gene therapy clinical trial for X-SCID patients at the National Institutes of Health in Bethesda, MD. Gene therapy is an experimental treatment where doctors use a corrected copy of the patient’s own hematopoietic stem cells to create a working immune system for them. In July 2019 Taylor underwent this 15 minute procedure in hopes of eventually regaining a new immune system that will consist of functioning T, B and NK cells. Time will tell if this treatment has been successful but we’re hopeful that it will be!