Update: First Post of 2017

Image result for group holding hands

I know I’ve been MIA for a while, but I’m still here! Since I’ve graduated school and started a new job, life has been pretty busy. As you may already know, I stopped getting Cerezyme infusions in December of 2015.  I’m taking Cerdelga now, which is the oral medication for the treatment of Gaucher Disease. Cerelga has helped to somewhat “normalize” my daily life, but I will always remain connected to the GD community.

Starting this blog allowed me to connect with so many other GD patients all over the world. It made me realize that GD does not look like one person. GD has many colors and speaks many different languages. I also learned that even though type 1 is the most common, we, as a community, cannot neglect the stories and experiences of those who are effected by types 2 and 3. I really want my blog to reflect more of those cases too.

With that being said, I have an announcement!

Continue reading

Advertisements

Feature: With A Warrior’s Heart, 2-Year-Old Ridgefield Boy Fights Rare Disease

Written by Tom Renner, Ridgefield Daily Voice:

RIDGEFIELD, Conn. — Meg and Drew Whitbeck of Ridgefield reacted differently when they learned in February that their one-year-old son, Luke, suffered from a rare genetic disorder, Gaucher Disease.

Gaucher Disease is a rare disease that causes fatty lipid deposits to build up in some organs and bones. It results from not having an enzyme, glucoerebrosidase, that breaks down a fatty chemical, glucocerebroside. Fat-laden Gaucher cells build up in areas such as the spleen, liver and bone marrow.

Continue reading

Feature: Lauren Shares Her Story with NGF

Last month the National Gaucher Foundation reached out to me with a few questions to answer for their new “Patient Journey” blog series. I shared some details in that post that you may not have known about already; I mention my incredible care team, the wonderful Gaucher family I have made online, and more!

Please check it out and let me know your thoughts!

Meet Lauren: Gaucher Disease Patient Journey

I’m Marc. This Is My Story.

MarcI am 36 years old and a family law attorney living in Orange County, California. My story is probably unique in the Gaucher community. I grew up relatively symptom free. I am not the most coordinated person, but was able to do fairly well in cross-country and track in high school. I even had the opportunity to run at the collegiate level. I had pain in my legs in high school, but my coach (and doctors) wrote it off as growing pains and shin splints.

In college, I certainly had aches and pains, but tended to ignore my body. I was focused on school, work and having fun and didn’t really have time to take care of myself. Although fatigue was certainly an issue for me, I constantly pushed my body to meet my scheduling demands. Sub-consciously, I think I always knew that I did not have the energy of my peers, which made me want to take on every challenge and every obstacle just to prove myself.
Continue reading

I’m Kristin. This Is My Story.

KristinI am 44 years old and I was diagnosed with Gaucher Disease at age 5.  The doctor felt that my spleen was enlarged and as I was growing up, as a teenager, I was always very tired. I was working two jobs. I would go to my first job, come home to sleep, then go to my second job. After high school, I started working one full-time job with benefits.

I began treatment in 1999, but before that I was gaining weight. Ever since I started my treatments I feel better, and I still get Cerezyme infusions every two weeks.
Continue reading

I’m Kevin. This Is My Story.

KevinI was diagnosed with Gaucher’s disease back in 1975 when I was 4 years old. During a routine visit to my pediatrician she noticed an overly enlarged lymph gland in my neck. After discussing their options, my parents decided to have it removed. My pediatrician consulted with several doctors and then sent the results to a friend of hers down at the National Institute of Health. Little did I know that her friend was none other then Dr. Roscoe Brady. If you do not know who he is, do a quick Internet search. You will quickly realize that anyone who has Gaucher’s disease owes him a debt of gratitude. After seeing the results of my biopsy, Dr. Brady told my parents to get on the next plane to Bethesda. That would prove to be the first of many trips my mother and I would take to NIH over the next 15 years.
Continue reading

I’m Jenni. This Is My Story.

JenniMy name is Jenni Blustein and I have Gaucher Disease.  I had just moved to Chicago from Detroit in 1995 at the age of 29. One day, while I was in temple, I suddenly felt like I was going to pass out, which I did.  Since I was new to the city, I didn’t have a doctor yet.  Thankfully, my new boss helped me find a doctor who told me that my platelet count was low.  He sent me to a blood specialist at Northwestern University in Evanston, Illinois.  After some tests, I was diagnosed with Lupus.  I went for a second opinion, was given a bone marrow biopsy, and was then diagnosed with Leukemia.  Neither of these diagnoses were correct.
Continue reading