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How Life Changes When Told You Have a Rare Blood Disorder

sanofi family
sanofi family
Photo by Mia at YouByMia Photography

Acquired Thrombotic thrombocytopenic purpura (aTTP) is a rare and sometimes fatal blood disorder. Awareness, timely diagnosis, and prompt treatment are needed to ensure positive outcomes.

In September 2008, Sydney Kodatsky stepped out of a swimming pool, removed her goggles, and suddenly found herself unable to see. The 28-year-old newlywed and recent MBA graduate visited a major Toronto emergency room, waited for five hours, and was sent home with a migraine diagnosis.

With no relief from her headache or fluctuating vision the next day, she went to her family doctor, who reassured Sydney that there was nothing to worry about. It was only after seeking a third opinion, at her mother’s insistence, and getting the results of some routine bloodwork, that Sydney finally got her diagnosis — acquired thrombotic thrombocytopenic purpura (aTTP).

I was extremely lucky not to have experienced a heart attack, stroke, or kidney failure before my treatment was able to kick in.

Rareness of aTTP can make it difficult to diagnose

aTTP is a rare but life-threatening autoimmune blood disorder that creates blood clots throughout the body. Because it’s so rare, diagnosis can be difficult or delayed, as in Sydney’s case, putting the patient at further risk of serious complications. “I was extremely lucky not to have experienced a heart attack, stroke, or kidney failure before my treatment was able to kick in,” she says.

aTTP is diagnosed at a rate of three to four in one million people per year worldwide. The cause is not well understood, though it’s believed to be hereditary in about one percent of patients. “About 65 percent of aTTP patients will go through the treatment process once and never experience a relapse,” says Sydney. Others, like Sydney, have it on a recurrent but unpredictable basis. Since her initial diagnosis, Sydney has had seven relapses, the last one in 2016.

It takes extraordinary effort to stabilize an aTTP patient during a crisis with the therapies available in Canada, and the experience for patients is truly life-altering. The current treatment options for an aTTP crisis are a combination of plasmapheresis and immunosuppressant medication. During each two- to four-hour plasmapheresis treatment, a patient’s entire blood volume is removed through a central line to replace the plasma.

Sydney has required 700 or so units of plasma so far, and she’s grateful to those who donate blood. Unfortunately, the immunosuppressive treatment that saves lives can also have devastating consequences. At only 35 years old, Sydney started a battle with metastatic cancer.

Most patients diagnosed with aTTP are young women in their childbearing years. “If you’re lucky enough to recover, aTTP can really derail their plans for having a family, so these patients need to work closely with their hematologists to understand the risks associated with pregnancy and aTTP,” says Sydney. As young newlyweds, Sydney and her husband faced immense challenges they never foresaw to successfully build their family.

The daily challenges and fear of relapse are very real

Living with aTTP is challenging. “There’s no day-to-day treatment and there’s nothing you can do to control the timing of a possible recurrence,” says Sydney. “It’s the ultimate disruptor because you don’t know if and when a recurrence could happen and land you in the hospital for weeks or months, so you need to have backups for everything.”

Aside from the disruption, there’s also the fear of relapse. “That fear is very real because not only can it derail your life, but there’s also a 20 percent chance of dying from each aTTP episode with treatments available in Canada,” says Kodatsky. As a result, many aTTP patients deal with anxiety and depression.

Determined to change the outlook for herself and others living with aTTP, Sydney founded the Answering TTP Foundation in 2010. The foundation focuses on fundraising, research grants, patient advocacy, and education with a view to improving diagnosis and access to improved treatment options for aTTP patients. “Getting timely access to efficient and effective treatment is challenging and there are only about 40 treatment centres across Canada that can treat aTTP,” she says.

Sydney is nevertheless optimistic about the future. “Canada pioneered new treatments for aTTP that increased survival by about 75 percent, and there are currently promising treatments available in peer nations to target the mechanism of the disease to reduce harm,” she says.

understanding ttp

The placement of this article was made possible with support from a research based pharmaceutical company


1 National Organization for Rare Disorders (NORD). Rare disease database: Thrombotic thrombocytopenic purpura. https://rarediseases.org/rare-diseases/thrombotic-thrombocytopenic-purpura/

2 Kremer Hovinga J et al. Survival and relapse in patients with thrombotic thrombocytopenic purpura. Blood 2010; 115(8):1500-1511https://doi.org/10.1182/blood-2009-09-243790

3 Pavenski K et al. Efficacy of Caplacizumab in patients with aTTP in the HERCULES study according to initial immunosuppression regimen. Blood. 2019;134 (Supplement 1): 2365; https://doi.org/10.1182/blood-2019-123126

4 Rock GA et al. Comparison of plasma exchange with plasma infusion in the treatment of thrombotic thrombocytopenic purpura. Canadian Apheresis Study Group. N Engl J Med. 1991 Aug 8;325(6):393-7.

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