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They are called rare, but together they affect 350 million people around the world. Although impacting this large of a population, it is a challenge to raise awareness to rare diseases since there are so many different conditions under this classification.
Merna Hedo is 20 years old and a patient of Toronto General Hospital's
Red Blood Cell Clinic since 2016. She has been fighting a rare condition called thalassemia since she was a baby.
Merna shares her experience of living with a disease which most people have never heard of.
"As a child and even now as an adult, it was always hard," she says. "Friends at school would say mean things or flinch as if I was contagious.
"Adults try to be more careful, but when the topic comes up, you still get the facial expressions and other non-friendly reactions."
Diseases with a prevalence of 1 in 2,000 or lower are considered rare. Thalassemia of the kind affecting Merna is very rare, with a prevalence of 1 in 100,000. This genetic condition affects the production of hemoglobin – the protein in our red blood cells that carries oxygen throughout the body.
The low levels of hemoglobin can cause anemia and a wide range of complications. The main treatment for a condition like thalassemia is monthly blood transfusions.
The transfusions, however, generate an overload of iron that can cause decreased liver function, cirrhosis, diabetes and even heart failure, among other issues. That is why, along with the transfusions, patients have to take up to eight pills a day, including iron chelators, calcium, vitamins and, depending on the case, insulin and hormone replacement therapy.
In severe cases, patients need to have continuous intravenous infusions of iron chelators.
For this Rare Disease Day, observed every year on the last day of February, Merna hopes to spread the message of how important it is to fight stigma.
"Having a rare disease doesn't define you," she says. "I'm more than just a patient with thalassemia.
"For this day, I hope that people understand that there are thousands of different rare diseases out there and that, if you don't know, it is okay to ask. It is not okay to judge and to make assumptions."
Getting treatment around the world
Merna was born in Iraq and her family moved to Greece when she was two years old so that she could have access to a more specialized treatment centre in Athens. In 2013, impacted by the economic crisis in Greece, her family decided to immigrate to Canada and once again Merna's treatment was a priority.
"Canada has a great public health infrastructure," Merna says. "My parents and I did a lot of research to be sure it would be safe for me to come here."
Moving to another country in itself implies so many changes to a person's life – a new culture, new language, new friends, new routine. Imagine also having to consider a treatment for a rare disease. And imagine all of these changes and their impact in the life of a teenager.
Merna says it was of course stressful and scary, but that the medical teams first at The Hospital for Sick Children (SickKids) and later at the Red Blood Cell clinic at Toronto General made the transitions easier.
"I had my routine treatment for as long as I could remember in Athens," she says. "I had doctors I knew and trusted, so it certainly was scary to change everything and come to a new country.
"But the doctors at SickKids and here were always so nice and friendly. They made this whole process a lot better."
A dedicated student, Merna always found ways to manage her school schedules and her treatment. Losing one full day per month because of the transfusions appointments wasn't easy. As she recounts, she learned to teach herself in many subjects using class materials and notes from different colleagues.
Merna is now studying for a bachelor's degree in nursing and her dream is to bring her own contributions to research in finding a cure for thalassemia and other genetic blood disorders.
"I want to become a nurse and later maybe even a doctor so that I can help find a solution," she says. "I know that many great doctors and researchers are working hard to find a cure for thalassemia, but I think when you've suffered through the disease it gives you a unique perspective to it."
Looking for a cure
The only cure available for thalassemia, sickle cell disease and other rare blood disorders is a bone marrow transplant. It is however an option only for children, teenagers and in very specific situations involving adult patients.
"Children are much more resilient and we have a higher success rate with this procedure," says Dr. Kevin Kuo, hematologist at UHN and Merna's doctor. "For adult patients we are still doing research to try and improve the outcomes so it can be used as a cure."
A bone marrow transplant is also difficult to come by, because it is hard to find a donor who is a match. For sickle cell and thalassemia it is even harder, since most patients are from African and Middle Eastern descent and the majority of the donor pool is from European descent.
"The genetic differences limit considerably our chances of finding a donor," explains Dr. Kuo.
He says the treatment options for blood disorders have improved dramatically in recent years but that researchers like himself are still looking for a definitive cure.
"These rare genetic diseases are chronic in nature meaning that they will keep accumulating damages in the body until we fix the underlying problem," Dr. Kuo says.
"Currently, what we do is providing 'Band-Aid' solutions. We try to manage their heart, liver, kidneys, pancreas, when they get into trouble, but what we want is to find a cure by attacking the underlying cause, so that the patients don't have to suffer from any of the complications."
Dr. Kuo believes the next breakthroughs in this field will come from research involving stem cells and gene therapy. The challenge is to advance research involving rare diseases.
"Rare diseases are harder to understand precisely because of their rarity. A successful study for example requires a lot of patients, but when you only have a few in the world suffering from that particular condition, it becomes difficult to find solutions that could work.
"Thankfully, we have a number of international collaborations that have been showing a lot of promise."
Toronto General's Red Blood Cell Clinic is the largest of its kind in North America. It currently counts 1,400 patients, 800 of them being treated for sickle cell, 300 for thalassemia and 300 for different rare blood disorders. More information is available at the clinic's webpage.