When eight-year-old Donavon Jordan-Johnson was born, he quickly became very ill.
“He was continually losing weight (three pounds in eight days), he became jaundice, lethargic, and eventually nothing stayed in his body,” says Donavon’s grandmother, Debbie (Sladek) Dutka.
“He was dying slowly and we never knew. At six days, Donavon had to do another blood test but no one told us at that time their suspicions,” Dutka says.
“On the seventh day, Donavon was very ill and as we were walking out the door heading to the hospital, we got the call from the doctor saying to stop feeding Donavon any milk as it was killing him.”
Over the next eight years, Donavon along with his grandmother and their family, would be on a painful journey, learning about galactosemia, a rare hereditary liver disease that affects not only him, but his whole family.
Galactosemia is a rare liver disease where one has too much galactose (a sugar in milk) in one’s blood due to there not being enough of the enzyme that breaks down the sugar. This starts when an infant is born and, if left untreated, can be devastating.
As a result of his condition, Dutka explained that Donavon has multiple disabilities and complications, such as learning disabilities, seizures, cataracts, and, if he is not watching what he eats, his organs get attacked. He requires supports at school and at home.
“In the world of rare disease, everything is a struggle and nothing is easy,” explains David Cox, Executive Director of the Rare Disease Foundation of Canada.
“For example, in most provinces, many things typically covered by provincial health coverage plans are not covered for those living with a rare condition,” Cox says.
“Being diagnosed with a liver disease can be a very scary experience, especially if your doctor may not be able to answer your questions,” explains Melanie Kearns, Vice President, Marketing & Communications of the Canadian Liver Foundation. “There are over 100 forms of liver disease and some are very rare.”
To end the feelings of isolation, frustration and misunderstanding, Donavon is excited to meet other kids with the exact same condition, despite there being only three cases in Manitoba.
“Things most parents take for granted become high-stress aspects in the life of a person with a rare disease, such as getting an education, getting access to genetic testing to isolate the disease, et cetera,” says Cox.
“Liver disease is not well understood by many people and often comes with misconceptions as to why or how someone can get liver disease,” Kearns explains. “Consequently, you may find you and your loved one face different reactions from other family members, friends and neighbours,” she says.
“Other kids just eat,” explains Dutka, “Donavon asks all the time, ‘Can I eat that?’”
Dutka listed the forbidden foods, which include dairy products if they have lactose (even some soy products), anything with gluten, and even blueberries or watermelon.
Going to a restaurant is a challenge for the family, even though Donavon enjoys a bacon and chicken sub sandwich. He has to bring his own cheese and ranch dressing, and can’t have tomatoes, either.
“For many of the over 7,000 known rare diseases, there is no known treatment protocol or cure,” says Cox.
“The first step is to learn about the disease, including the signs and symptoms, required tests, and possible treatment options, so you will know what to expect,” says Kearns.
Dutka and her family have been busy fundraising online to attend a conference last month, conducting research on the condition, and working with various agencies in networking with professionals, parents, and other children with rare diseases.
Regarding the Rare Disease Foundation of Canada, Cox says, “We work through our Parent 2 Parent (P2P) resource groups which are now operating in Victoria, Vancouver, Calgary, Edmonton, Toronto, Ottawa, and St. John’s. We are currently in the early stages of setting up a similar group in Winnipeg once we find a genetic counselor or other health professional to co-lead the group.”
Cox continues, “Our P2P groups often put on family picnics or sibling appreciation days throughout the year to focus on community building and providing attention to the often ‘forgotten’ brothers and sisters of children living with a rare disease.”
When it comes to support, knowledge is power, says Kearns.
“The CLF can provide this information through our website, our toll-free Help Line, or through information packages sent via mail,” Kearns explains. “The more you know, the better prepared you will be for doctor’s appointments and any medical procedures and can help reassure your loved one and ask the important questions you need answered. You should ensure your loved one knows that they have your unconditional support.”
Donavon has learned to be very giving in many ways to other kids. At Halloween, he donates the candy he earns from trick-or-treating to the children’s hospital. He enjoys reading to other kids and making up stories, as they sit and listen. He loves drawing, singing, dogs and sharks.
Dutka’s plan is to continue raising funds to not only meet the needs of Donavon’s expensive diet, but to help other children and families with needs including parent to parent resources and support.
“If your family is dealing with liver disease, it is important to know that you are not alone and that help is available,” says Kearns. “The Canadian Liver Foundation can put you in touch with other families who are coping with rare liver diseases.”
The Canadian Liver Foundation at www.liver.ca offers information on volunteer opportunities, upcoming events and provides the opportunity to donate online. In Manitoba, you can also contact the office at (204) 831- 6231 or email Sandip Joshi at email@example.com
Joining the Rare Disease Foundation is free and easy. You can sign up through the website and access the members-only section, where you can network and blog with other members, connect with others in your area, and search for others who might share your condition or symptoms. There is a donate button on the main page of the website and receipts are issued electronically once a donation is made. Those interested in volunteering can do so by emailing firstname.lastname@example.org.