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 www.curepmd.com.