Could you be a carrier of a rare genetic disease?
When Miriam was born seven years ago, her parents, Julie Kristof and Murray Yazer, knew right away that something wasn’t quite right.
“My daughter was born with some clear health issues, including the inability to suck well enough to breast or bottle feed,” Kristof said.
Within days of Miriam’s birth, her parents had to bring her to the ER because she was essentially starving. Doctors immediately put in a nasogastric tube (a feeding tube that goes in the nose and down into the stomach) and admitted her to the neo-natal intensive care unit (NICU).
“We were in the NICU and the step-down unit for five or six weeks where they did all kinds of tests and finally sent us home having trained us on how to feed her through the tube,” Kristof recalled.
Despite the tests, no one was able to tell them what was wrong with Miriam. They worried and wondered, doing their own research and asking questions that appeared to have no answers. “It was only when Miriam was 18 months old that our pediatrician put the pieces together and had a hypothesis, which we tested,” Kristof said. “And we learned our daughter was, in fact, affected by familial dysautonomia.”
This genetic disorder affects the development and survival of nerve cells in the autonomic nervous system, which controls involuntary actions such as digestion, breathing, regulating blood pressure and body temperature. The disorder occurs primarily in people of Ashkenazi (central or eastern European) Jewish descent. In order to have the disease, both biological parents need to be carriers.
The news came as a shock to Miriam’s parents. Kristof recalled being asked during her prenatal medical visits whether she had ever been tested for any Jewish genetic diseases, and remembered being tested for a better known disorder called Tay Sachs when she was in high school (that test was negative).
“That was the end of the conversation,” she remembered. “Nobody mentioned that in the 20 years since I was tested, a number of diseases specific to people of Ashkenazi descent had revealed genetic markers.”
In fact, the McGill University Health Centre (MUHC) explains that nine per cent of Ashkenazi Jews are at risk for being carriers of these genetic disorders. The best known is Tay Sachs, which progressively destroys nerve cells in the brain and spinal cord and is usually fatal by early childhood. Others include Canavan, Niemann-Pick and Gaucher’s disease.
Kristof wants to help other couples avoid her family’s frightening experience. As chair of the Montreal Jewish Hereditary Disorder Fund, she is working hard to publicize a new online study currently offered by the MUHC to anyone of Ashkenazi origin, designed to cut wait times for genetic screening.
“The best time to be screened is prior to starting a family, but provincial wait times to see a genetic counsellor can be significant,” explained Guillaume Sillon, a genetic counsellor at the MUHC. “This new educative website will allow us to test the effectiveness of online pre-test genetic learning within the Jewish community, helping individuals properly identify their risk and ultimately reduce the wait for genetic testing.”
After completing the online assessment, those at risk will be sent an electronic requisition to undergo a blood test for genetic testing at the Montreal General Hospital. There are many reproductive alternatives for carrier couples depending on the beliefs and values of the people involved.
Kristof said this simple blood test would have revealed both she and her husband to be carriers before they started a family. “We were blindsided,” she added. “We spent 18 months with a very sick child not knowing what to do. The program to screen for Tay Sachs was very strong 10 to 15 years ago, but it no longer is. The awareness in the Jewish community is now very low. People don’t realize they need to get tested, how to get tested.” She explains that even if only one parent is of Ashkenazi Jewish descent, it is important to get tested, as the carrier gene can still be passed onto a child.
Testing positive for the gene needn’t have a negative impact on anyone’s life, Kristof said. “You shouldn’t be afraid if you are a carrier. The implications are different but you can still have your own healthy babies. You just have to be cognizant and be careful, and get your own counselling, medical and spiritual. [The genetic counsellors] are very reassuring. It is actually quite unusual for both parents to be carriers of the same mutation. We were very unlucky. There are many options available. And if you want to continue with a pregnancy with a child who is affected, you will know ahead of time what to expect.”
In the meantime, the Yazer family cherishes every day with Miriam and their son, Alex. Miriam attends the Mackay School with an adapted curriculum to accommodate her many medical needs.
“Every morning she wakes up with what I describe as morning sickness, and she needs medication,” Kristof said of Miriam’s familial dysautonomia. “She is unable to swallow properly, which means food can go into her lungs, and it has. She has been treated for aspiration pneumonia. She has a gastric tube inserted into her stomach and she is 100 per cent tube fed.
“We work with at least 10 specialists who we see every six to 12 months. She doesn’t produce growth hormones, so she is super little. We just started her on growth hormones. We see a cardiologist, respirologist, gastroenterologist and other specialists. We are part of the intensive ambulatory care unit at the Montreal Children’s Hospital, which is an amazing group of doctors and nurses on call 24/7 for us.”
Kristof tries not to focus on the fact that her daughter’s disease is considered progressive and fatal. “We have seen so many random things happening to our friends, whether it’s cancer or heart attacks, and we know life can be like that. There is so much that we can’t test for in this world. But this involves a simple prick of the finger or a quick blood test. It’s so uncomplicated in terms of process, that I just want people to run and get
For more information or to sign up for the study and carrier testing, contact Guillaume Sillon, genetic counsellor at the McGill University Health Centre. 514-934-1934 ext. 43707 or firstname.lastname@example.org. Individuals interested in learning about all testing options can visit testjgd.com.