GORE BAY—A Gore Bay woman is hoping that a trip to an Ottawa hospital this weekend will finally help to solve what the actual condition is and what can be done to clear up her 12-year-old daughter’s continuing health problems.
“We are looking for answers for Hope’s condition,” stated Edeana Merrylees last Friday. “We will be leaving July 23 for Ottawa to see a doctor to sort out what is currently going on with Hope’s health.”
“Dr. Peter Humphrey, who is the primary physician at Children’s Hospital of Eastern Ontario (CHEO) and her neurologist, has followed Hope since birth. He is also the physician that set this up for Hope to be admitted to the pediatric floor. Her team will be ready for her when we arrive to get his plan in motion.”
“We are flying to hospital in Ottawa from Gore Bay through Hope Air,” said Ms. Merrylees. She explained, “Hope has recently run into major complications in her digestive system, and has been admitted by Dr. Humphrey, referred by Dr. (Chantelle) Wilson.”
She said her daughter has been experiencing weight loss, a reduction in energy and is sleeping a lot and that her condition has never actually been diagnosed. “Hope was started on a liquid diet but we found she is still not gaining weight. Dr. Humphrey is going to take her in his care to try and figure out and diagnose what is wrong with her health wise and come up with a treatment plan.”
“We are going (to Ottawa) for an undetermined amount of time, but are hoping to be able to come home as soon as possible. We need answers, her (Hope) health has changed a lot over the last year and all options we have tried haven’t worked,” said Ms. Merrylees.
“Her condition is still undiagnosed,” said Ms. Merrylees. “We are committed to finding a treatment for Hope that works, so she is able to be happy and as healthy as she can be. I am grateful the doctors and hospital are willing to keep fighting for answers! In some place a patient is just a number. CHEO isn’t like that-you can see they truly care. They put effort into making sure they are doing everything they can for Hope.”
Ms. Merrylees explained, “even with everyone’s efforts over the last 12 years, she is still undiagnosed and we are still working on finding a diagnosis, which is why we were placed in the Care for Rare program by Dr. Dyment. He is hoping it maybe bring us some answers, which means we make a few trips a year to CHEO in Ottawa for follow up and testing. We are very lucky we are able to do this because we fly out of Gore Bay directly to Ottawa thanks to Hope Air.”
Hope Air is a non-profit organization that flies anyone, children or adults, all over Canada for medical appointments. “It is an amazing organization,” said Ms. Merrylees. “Last year we were invited as a family to Toronto to speak at Hope Air’s 30th birthday party to tell Hope’s story and celebrate with other families that also rely on Hope Air Services.”
Care for Rare is a nation-wide research program focusing on the improvement of both the diagnosis and treatment of rare diseases. Based out of CHEO Research Institute in Ottawa, Care for Rare includes 21 academic sites across the country and is recognized internationally as a pioneer in the field of genomics and personalized medicine.
Its team uses state of the art DNA sequencing technology to identify new rare disease genes for patients across Canada and around the world, and develops novel therapeutic approaches. Together, 80 physicians and 50 scientists work to advance rare disease research as part of the Care for Rare program.
Currently, 25 percent of rare disease patients wait five to 30 years for a diagnosis, 40 percent initially receive a misdiagnosis, and half will never receive a diagnosis. In contrast, the evidence-based approach being developed by Care for Rare will result in an accurate rapid diagnosis for many affected by rare disease. Securing a clear diagnosis means that patients and families can make future projections about their health care, tap into best practice guidelines, seek reproductive counseling, and potentially start therapies.
In addition, only five percent of children with rare disease have access to an effective treatment. By investigating approved drugs for effectiveness in other diseases, Care for Rare hopes to identify novel therapies for some of those currently without any treatment, its website indicates.
Ms. Merrylees pointed out that she has been travelling to Ottawa to CHEO since Hope was born. She explained previously that it was apparent from the beginning that something wasn’t right with her daughter medically. Doctors think it is a rare genetic disorder that affects her neurologically leading to uncontrollable seizures. She also has problem with her central nervous system.
“We’re very hopeful that a diagnosis can be found and that treatments will be able to start,” Ms. Merrylees.
