Living with Gaucher Disease – My story

My name is Suzanne Krupskas. I’ve been involved in the Gaucher community since 1981. That’s when I was diagnosed with this genetic disease – which is one of many lysosomal storage diseases.
My symptoms began in 1980 with severe hip pain (both hips), severe bruising, extreme anemia, spontaneous fractures, and low platelets. After going through a plethora of tests the doctors were endlessly diagnosing my symptoms as: synovitis, bursitis, osteoarthritis, ectopic pregnancy – and then the diagnoses became more extreme – leukemia and then bone cancer.
At the young age of 24, I not only felt extreme physical pain in my hips – but I was emotionally distraught. Ultimately through a bone marrow biopsy the diagnosis of Type 1 Gaucher Disease was made. Again, this was in 1981. Grim prognosis – as there was no treatment in site. Unfortunately, my hips collapsed – so in 1983 I had bilateral hip replacements. And many more symptoms were arising to the point my overall health was in jeopardy.

Although I have gone through a total of 8 hip replacements, a pelvic reconstruction and many various serious medical complications from this disease – I am proud to say that my health is very good at the present time. With the bi-monthly infusions, my constant perseverance with doing various daily exercises, being mindful with my diet (being a vegetarian and eliminating all processed foods), being a strong patient advocate and giving lectures on the disease and sharing my story has helped me get through the toughest times in my life.
Last year I was one of the fortunate people to be aksed by a Genzyme employee, Matt O’Shea if I minded if he ran the Boston Marathon in my honor. Minded? I have never been so proud! I trained and ran with him in spirit! So thrilled to say, Matt will be running the 2012 Boston Marathon – once again in my honor.
Cheers to you my friend – I thank you so much!

Posted in Patient Stories

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Archive of posts from Marathon runners dedicated to making a positive impact on the lives of people with serious disease.