I’m Annemarie. This Is My Story.

I was diagnosed when I was about 5 years old (1986?). My doctor at the time felt my enlarged liver and spleen, and sent in a sample of my blood along with a sample of his as a control to have tested for Gaucher’s. It came back positive for Gaucher’s Disease, and I was diagnosed type 1.

Shortly after, I was scheduled to go to the NIH for tests. My mom and I were flown out and I went through more tests. I was scheduled to go out again for a liver biopsy. Around the same time, I had 10 teeth pulled for unrelated reasons. When I wouldn’t stop bleeding, I was tested and diagnosed with having Hemophilia type A. When I got back to the NIH for my biopsy, they canceled it because the risk for bleeding was too great. I was one of the many who did some trial testing while Ceredase was being developed. They took a piece of skin and used it to help develop the new treatment.

I started Ceredase in 1991, and only missed treatment during the Genzyme contamination. I was off treatment for about 6 months (maybe a bit longer), and was fortunate enough to be approved to switch to VPriv. After being on treatment initially for about a year, my numbers weren’t quite where they needed to be. My mom was looking over all my records and blood tests, and noticed my thyroid wasn’t right. She asked my doctor to check my thyroid. Sure enough, in 1992 I was diagnosed with Thyroid disease. I guess 3 diseases is a charm, right?

After getting my thyroid under control, my growth shot up and my treatment started working better. I’ve responded pretty well to treatment over the years, and have been on Ceredase, Cerezyme, and now VPriv. I hope that after more data has been reported, Cerdelga, the pill, will be a great option for me.

Growing up was difficult. I was smaller than other kids my age (a side effect of Gaucher’s) and I wasn’t allowed to play sports. I wasn’t allowed to participate in gym class with the other kids because the risk of serious injury was too great. All of this helped me become a victim of relentless bullying. Once I got into high school, I was able to join the swim team. Aside from a port implant and a foot injury, I was able to swim all 4 years without problems. I wasn’t the best on the team, but I was still a part of the team and able to join a sport.

Speaking of ports, I had my first one implanted in 1995 because my veins were getting too badly covered in scar tissue. The first port lasted until 2001, when it was replaced for one a little bit bigger (I had developed, so the first one was lost in the breast tissue). Port #2 lasted until 2009, when I had it replaced again because of tissue growth. Port #3 is closer to the surface, so I shouldn’t have any issues with it getting lost in my tissue.

Now that I’m old enough to manage my healthcare and deal with the paperwork that comes with it, I have a greater understanding about why my mom would get upset when she had to call insurance or my doctor. It is no joke, and no picnic either. Luckily I still have my family to help support me and a great case manager with Shire to help me get things I need. The depression is a struggle that I’m trying to deal with. I’m usually pretty stable until I have to deal with something financial; usually insurance related.

Gaucher’s is not a cheap disease. Sure, there’s support out there to help you with the costs of your Gaucher care, but what about the other stuff? I have 3 diseases, 4 if you want to count the type 2 Diabetes I developed from an antidepressant I was on (currently in remission). I have lower back arthritis and the pain is unbearable. There’s no proof or diagnosis that it’s related to my Gaucher’s disease even though there is strong data out there to support the idea. All my physical therapy, testing, and chiropractic care has been paid for by me. I can’t get help from NORD because my Gaucher’s doctor didn’t order the care.

Sure, it could be worse. I could be dying of Cancer, or I could have contracted HIV like my Uncle did from a tainted blood transfusion for his Hemophilia. It can always be worse. But that shouldn’t disqualify me from acknowledging my suffering and my pain. At least through social media, I can find people just like me going through the same things I go through, and get support from someone who knows what it’s like.

-Annemarie DellaGuardia; Deltona, FL