What is ALD?
Adrenoleukodystrophy, or ALD, is a deadly genetic disease that affects 1 in 18,000 people. It most severely affects boys and men. This brain disorder destroys myelin, the protective sheath that surrounds the brain’s neurons — the nerve cells that allow us to think and to control our muscles. It knows no racial, ethnic or geographic barriers.
The most devastating form of ALD appears in childhood, generally between the ages of four and ten years old. Normal, healthy boys suddenly begin to regress. At first, they simply show behavioral problems, such as withdrawal or difficulty concentrating. Gradually, as the disease ravages their brain, their symptoms grow worse, including blindness and deafness, seizures, loss of muscle control, and progressive dementia. This relentless downward spiral leads to either death or permanent disability, usually within 2 to 5 years from diagnosis.
Meet Evan Cousineau
Evan was a vibrant three-sport athlete when he was diagnosed at the age of 9 ½ with ALD. With no family history, as often happens with these boys, they start to present with symptoms such as ADD, ADHD, behavioral problems, vision issues, and headaches, none of which would point any physician to this deadly genetic disease. Once the diagnosis is finally made, when hearing and vision loss become apparent, gait problems arise, and seizures begin, the boys are too far progressed to be candidates for a lifesaving bone marrow transplant or potentially gene therapy, that is being trialed currently around the world. Their disease now becomes terminal.
While Evan was considered a “late diagnosis”, his “Loes score” of eight was still in the range where he was considered a candidate for transplant. While the best donor match for patients like Evan come from a sibling, he had three including a twin sister, no match was to be had. While only 30% of patients will have that sibling match, most patients like Evan, will need to search the bone marrow registry for an unrelated donor match. To make things more complicated, due to the fast moving nature of his disease, there was NO time to search the registry because it could take weeks and months to find the donor and prepare them for donation. His only HOPE would come from donated umbilical cord blood, where we found two matches within days.
Evan’s family took him to the the University of Minnesota Children’s Hospital where they specialized in ALD and BMT. Six weeks from the day he was diagnosed, they were in Minnesota preparing Evan for his lifesaving double cord blood transplant. While Evan fully engrafted, meaning the donor cells had taken over his immune system and his disease was halted, due to a secondary infection, the Cousineau family lost him six months later, on November 2, 2007, the night before he and his twin sister’s 10th birthday.
As Evan’s mom Gina would tell you nearly ten years later, “one never gets over losing a child, you simply learn to “tolerate” this new life you had no intention of being a part of,” the work of the Be A Hero Become A Donor Foundation has allowed her to keep Evan’s spirit alive and vibrant.
For ALD families that are in need of emotional, informational and/or financial support, please contact Gina Cousineau at firstname.lastname@example.org.
We encourage all ALD families to join the ALD Connect Patient Portal, please click here https://nctu.partners.org/ALD/join_now