Friday, April 25, 2008

Parents seek cure for child’s rare genetic disorder
By MARCIE SOMERS, Special to The CJN
Thursday, 24 April 2008
TORONTO — When Jacob Trossman was born, his parents immediately knew that something was wrong. When he emerged from his mother’s womb, he was grey and his chest caved in whenever he breathed.

Marcy White and her son Jacob Trossman

Jacob’s cries didn’t sound like a normal baby; instead, they resembled the braying of a donkey. And his eyes twitched uncontrollably.

It became clear within a few days after Jacob’s birth that he would not have an ordinary life. “The one thing that stands out clearly in my mind is hearing somebody say, ‘I’ve never seen this before,’” his mother, Marcy White, says.

For the first 10 months of his life, Jacob saw more than 20 specialists, who put him through many tests. He couldn’t eat, had poor muscle control and paralyzed vocal chords. Eventually, doctors told White and her husband, Andrew Trossman, that a diagnosis might never be made.

This was unacceptable to White and Trossman, who embarked on a journey that would take them on a similar path of the parents in the Oscar-nominated movie Lorenzo’s Oil – a film based on the true story of a boy who has a disease that is so rare that no one is working on a cure, so his parents vow to find one themselves.

White and Trossman spent hours on the Internet and at the library trying to figure out what Jacob had, and they talked to many experts. White began reading medical textbooks. She jokingly refers to that time as her PhD in Jacob.

After months of research, they finally had a breakthrough. White was going through her family’s medical history when she noticed that her mother’s brothers died before their second birthdays, and she noticed the similarities between her deceased uncles and her son.

“They had the same symptoms – paralyzed vocal chords, breathing and reflux problems and the inability to keep food down,” White says. She also discovered that her mother’s cousin in Israel had a son with the same symptoms as Jacob.

At the time she came across those records, White was scheduled to meet with a genetic counsellor and a doctor who specializes in metabolic genetics. Armed with the new information, the doctors took another set of tests, and White and Trossman finally had their answer. Jacob had Pelizaeus-Merzbacher disease (PMD), a rare genetic disorder.

The disease is caused by the lack of myelin – a fatty covering that acts as an insulator on nerve fibres in the brain. PMD is degenerative, and there is no treatment or cure. Typically, people born with the disease have 15 to 20 years to live. Worldwide, it affects one in 500,000, mainly boys. Jacob is one of four known Canadians with PMD. It’s fitting that the slogan for PMD is “it’s rare, but it’s everywhere.”

Now that White and Trossman knew what Jacob had, they hit the books to find a cure. They travelled to medical conferences, met with dozens of specialists and even visited Germany in search of answers. Sadly, they were unable to get one.

Refusing to give up, in 2004, White heard about an experimental drug that acts as a myelin sheath replacement that was being tested for patients with spinal injuries but wasn’t considered for PMD patients. White and Trossman thought that it might help Jacob and were able to enlist the help of Dr. Jim Garbern from Wayne State University in Detroit. They managed to convince him to test the drug on mice with a genetic disorder similar to PMD.

At first the results looked promising, but once again, they were faced with bad news. “Initially, the results looked great, but in the end they didn’t end up being statistically significant,” White says. Unfortunately for White and her husband, this meant that without the proper results, it was going to be nearly impossible for them to get doctors in Canada to continue with the research.

“It’s incredibly difficult to get doctor support to conduct research… We were hoping if Dr. Garben’s research showed positive results, we could get doctors in Canada to further his work. Now with the negative result, it makes it even more challenging to find someone to do PMD research here,” she says. “But we haven’t given up,” she adds.

She continues to search for a cure and is in touch with doctors in the United States and Europe. Although there is some interest by the research community, there is no sense of urgency. “It’s not the same as being a parent watching your child slowly decline – Jacob is a ticking time bomb,” she says.

As White puts it, “if we don’t do it, no one will.”

For more information or to contact Marcy White, visit

Wednesday, April 2, 2008

Inspiration from an unlikely source

Facts & Arguments: THE ESSAY
Inspiration from an unlikely source
How could a teenage girl be comfortable taking care of my disabled son when most adults were too afraid?
April 1, 2008

It is so easy to find negative things to say about today's teenagers. I seldom hear about those who devote their spare time to activities that don't include shopping, movies and video games.
But I have been fortunate to have met several amazing unsung teenagers who are worthy of admiration.
Last year, I heard about a program on Sunday mornings for kids with special needs. It was run out of a local high school and led by a pair of 16-year-old girls.
I was skeptical at first. How could a teenage girl be comfortable taking care of my son, and other kids like him, when most adults were too afraid to be alone with him?
Even after I spoke to the girls, who assured me they were willing to learn how to set up Jacob's feeding pump, I was hesitant.
My five-year-old son has Pelizaeus-Merzbacher disease (PMD), a rare, degenerative disorder that affects his central nervous system. Although he understands almost everything, he cannot sit independently, cannot talk, has difficulty breathing and is fed through a tube inserted into his stomach.
Jacob requires constant assistance and cannot be left alone, even while sleeping, as he is constantly at risk for choking. Even after learning this, the girls reiterated their desire to have Jacob join the group.
Some people thought I was crazy: How could I, a responsible parent of a severely disabled child, entrust his care for two-and-a-half hours each week to a group of kids? What if he choked? What if he wouldn't stop screaming? Were they strong enough to lift him?
I had so many doubts but decided to try. I loved the idea that Jacob could spend time with other kids (albeit older than him, but not nurses or other medical staff) and he enjoys his time at school, so being away from his parents was not a new experience.
Just as they had demonstrated in our first conversation, the girls welcomed Jacob into the group with such warmth that my doubts started to fade. Week after week, they became more familiar with him and vice versa. The counsellors continued to amaze me with the activities they planned, the efforts they made to ensure that everyone participated to the best of their abilities and their utter devotion to these special children.
Each child has various challenges. Some are physical, where the kids cannot move independently; some are cognitive, where the children cannot speak; and some are a combination of both. The one thing all these kids share is a need to be surrounded by people who can help them experience things most able-bodied children do by themselves - turn the pages of a storybook, stir the cookie batter or sing a song.
One week, partway into the session, I was told the girls had organized an outing to Chuck E. Cheese's. They had arranged for "older girls with driver's licences" to help them transport the participants and their equipment on this outing.
Two things went through my mind: "Wow, these girls are incredible; it sounds like a great experience," and, "Am I nuts? Am I really going to let them take my son on this adventure without a responsible adult present?"
Although I debated following them and watching from a distance, I decided to send Jacob off with his buddies and made sure the counsellors had my cellphone number and two backup contacts. Several hours later, they returned with huge smiles and pictures that captured the experience. This was my turning point. The doubts I had harboured faded - I would never again think twice about having my son participate.
When the summer came and the girls headed off to work at overnight camps, I wasn't sure who was sadder: Jacob for not seeing "his" Bracha, Bracha for not playing with her "best boy," or me for not seeing the smiles on the faces of Jacob, Bracha and the other counsellors each week.
During the summer months, we couldn't wait for the program to start again. Neither could Bracha. On her request, she came over to our house several times to play with Jacob. Needless to say, he welcomed his old friend with huge smiles.
I've spoken to these girls several times, sharing my gratitude for allowing us to take part in this wonderful program. One girl recounted a conversation she had had with her older sister, who said she could not envision herself participating because when she looked at these kids, all she saw were their challenges and troubles. It was too sad to be around them. The counsellor told her sister that when she looked at the kids, she saw children who loved to play and she did not notice their diseases.
When people sigh and complain about the attitudes and behaviours of teenagers today, I know they have not met this group of girls. The love, respect and interest that they show Jacob and his peers is nothing short of remarkable.
If I can raise my three-year-old twin daughters to be as caring and generous as these girls, I know I will have done something right. They are my inspiration.
Marcy White lives in Toronto