The Pain and Stress of Imminent Mortality

"One of the reasons we're doing it is to try to prolong my life. Right now, if we don't do anything, I may not live to be 20. Maybe 18 even. So my time really is running short...."
"Hopefully, my quality of life will improve -- that's the number one thing. We know it's [blood and marrow transplant] not a cure."
Jonathan Pitre, 16, recessive dystrophic EB disease patient

"It would be silly of us not to be nervous about it [transplant procedure]. We know it's a pretty invasive procedure."
"But at the same time, we're happy because this could be very life changing for him, for us, for the family".
Tina Boileau, 36, mother of Jonathan Pitre

Even amidst the painful and tiring task of washing and re-dressing all of his wounds — which takes four hours 
and must be done every other day — Tina and Jonathan laugh often and heartily. Jonathansuffers from Epidermolysis Bullosa (EB) — a rare disease defined by severe blistering and shearing of the skin that leaves Jonathan in constant pain. JULIE OLIVER / Ottawa Citizen

"The advantage of bone marrow transplant is that you don't just treat a single patch of skin; this is a whole-body approach."
"You can go from a kid who is in constant pain, who is wheelchair bound, who has bandages changed for several hours [daily] to someone who goes to school, to the beach, plays in the orchestra and goes on with his life." 
"You always have to think about what it can mean for these kids. With stem cell treatment, if it works, it works for the lifetime of the individual."
Dr. Jakub Tolar, director, University of Minnesota Stem Cell Institute

Dr. Tolar speaks of the optimistic side of his experience in his groundbreaking new therapy for children with RDEB. And, for the most part, it is children suffering from this dreadful genetic disease that has completely disrupted their lives, leaving them with a radically shortened lifespan for whom this procedure is done in the hopes that it will remediate the worst of their symptoms, while not being capable of curing the disease itself.

The procedure is not offered to adults. They are in a too-weakened condition because of their ongoing battle with the fallout of the disease to enjoy the prospect of a recovery. As it is, the danger posed by the potential for infection to set in to ultimately threaten and take the lives of those patients mitigates against its use for adults with severe EB. Those with the aggressive RDEB form mostly die as young adults, from skin cancer. Jonathan will be the oldest RDEB patient to under the therapy.

Reason enough to make the procedure appear attractive to Jonathan Pitre and his mother. Theirs is a true race against time. It is a relatively new process, pioneered by Dr. Tolar. Five to six patients receive the treatment yearly. Of the 30 children who have so far undergone the procedure, eight have died, most from deadly infections. On the hopeful side, two thirds of those who survived have seen improvements of a life-altering quality.

Their skin has become less fragile, the blistering has been reduced, and they experience improved healing of wounds. Jonathan's mother is scheduled to travel along with him in August to Minneapolis. It is she who will donate the blood and bone marrow and skin grafts required for the procedure. That process and the follow-up rehabilitation could take as long as a year. The Masonic Children's Hospital is the only place in the world currently conducting the procedure, first performed in 2007.

It is a costly process, one that the Ministry of Health and Long-Term Care of Ontario has pledged to finance. The transplant will come with a pricetag of over $1-million. But there are also travelling and living expenses, and some medical-drug costs all of which will fall upon the family, and those expenses alone could be about $200,000. The protocol calls for an infusion of chemotherapy drugs to prepare and weaken his immune system to prevent an attack on the donor cells.

A week later the stem cells taken from his mother's bone marrow will be infused into Jonathan's bloodstream through a catheter connected to his heart to ensure that the critical cells are evenly distributed throughout his body. The most dangerous time is the four-week period following the transplant, since with a depressed immune system due to the chemotherapy preparatory to the transplant procedure, few white blood cells will be produced whose function is to fight infection.

It is critical that he be in medical isolation following transplant, limiting exposure to bacteria, viruses, moulds and fungi. It will take several weeks before doctors will be able to identify signals whether the transplant has succeeded. Reduced inflammation around the wound area will be one clue as will examining blood samples for evidence of the presence of Jonathan's mother's cells. With success, stem cells will migrate to Jonathan's bone marrow, from where cells will be sent to his injured skin and internal tissue.

A protein essential to developing collagen considered the "glue" rendering skin its strength and structure will result. "It can repair wounds that have not had any chance of being repaired before", explained Dr. Tolar. A fault in the gene responsible for a type of collagen connecting the outer layer of skin with those below, typifies people with RDEB. Soft tissue in the esophagus and intestines are also impacted by the lack of collagen.

Recessive dystrophic EB is a rare genetic disorder causing the skin to blister, shear and scar. Because of their fragility, children who are diagnosed with the disease are known as "butterfly children".

Along with his mom, Tina Boileau, "Butterfly Boy" Jonathan Pitre of Russell, Ontario. Julie Oliver / Ottawa Citizen