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November 2018 Newsletter: Spotlight

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November 2018
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Anne O’Connor Smith,

ASMD Patient and NNPDF Board Member 

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Tell us a bit about yourself, such as where you live and what you enjoy doing…

I am a retired software engineer living on the East Coast of Central Florida with my Ironman husband Mike, my dachshund, bengal cat and two mini Brazilian short-tailed (pocket) opossums. I enjoy visiting with my adult children and relatives, Kung Fu (modified), triathlons (former Ironman & marathoner) sailing, kayaking, boogie boarding, gardening and making wine from my homegrown tropical fruits. 

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When did receive your diagnosis? What led you to diagnosis?

I received my diagnosis at age 11 when my entire family had numerous tests for a week at Texas Children’s Hospital. Starting at age 6 I had stomach aches when I had to sit in a school desk all day. My doctor felt my spleen and liver were enlarged but my 2 years younger brother did not have that issue. My 9 years younger sister also had enlarged spleen and liver so our doctor realized it was genetic and referred us to Texas Children’s Hospital.

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What were the first steps you took after diagnosis?

40 years ago we were told there was nothing that could be done. One medical student told me I would die by age 12; then the next day the genetic specialists said that was wrong but they had no idea what would happen to us. My mom said we could go back to Texas Children’s every year for free testing but I was too traumatized and refused.

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How did you learn about the NNPDF?

When my sister was pregnant with her first baby she worried about us not knowing anything about our disease. I realized she was right and I found NNPDF on the internet and joined the former Type B Yahoo group (now we connect on Facebook). 

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What caused you to get involved with the NNPDF initially and what led you to become a Board member?

From the Yahoo group I learned about and participated in clinical trials. I also learned about and attended NNPDF Family Conferences where I met and continue to meet many inspirational families. I met Lisa and Jami Chavez first and was amazed at their sense of peace and purpose after the passing of their daughter Breann. Elissa Miller-Visoky first suggested my board participation and I was also inspired by Sandy Cowie’s board participation as well as the fighting spirit of all those affected by the disease who quickly became my long distance friends. 

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What changes have you seen in the Niemann-Pick environment over the past 5 years?

I have seen our community become much more hopeful, focused, involved, global and self-empowered. I believe this is powered by clinical trial participation and collaboration with the FDA, researchers, the NNPDF and other organizations. 

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What are your hopes for the future for yourself and for the Niemann-Pick community?

I hope we get treatments approved for all NPD types ASAP! Drug development through the FDA is such a long process! I also hope for all 50 states to test babies for NPD once treatments are available. Hopefully then we can get gene therapy tested and approved and not need IVs every 2 weeks! Treatments and a cure are within our reach!

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