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!
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.
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 was born in South Africa on October 27, 1941 in a town called Benoni close to Johannesburg. One fine day I was at work and had walked to the factory section in order to retrieve some documents (I was the Production planner and coordinator of a cardboard box producing factory, one of the biggest in South Africa, Barlow-Weyerhaeuser). I was 32 years old at the time. My name was called out on the loudspeaker to return to my office for an urgent meeting. I made a quick U-turn and suddenly felt an extremely painful wrench in my chest. I sat down; I couldn’t move until eventually the pain eased off. I never went to that meeting.
I went straight to the Drs. rooms. He was our family Dr.and he suspected I had malaria as my spleen was swollen but he also sent me to the labs to have an extraction from the centre of my sternum to check for Gaucher’s disease. Wow was that painful!..This was 42 years ago.
It was an amazing opportunity to be able to sit down with Rare Disease Report to talk about my experience with Gaucher Disease, as well as to be recognized as the founder of Gaucher Stories. Though my platform is small right now, I will continue to use it to spread awareness because the more people know about it, the less misdiagnosis we will have.
See some clips of my interview on Rare Disease Report’s website.
See all of the clips from my interview on the Rare Disease Report Youtube page.
My name is Landon. I was born in Aug. 2014. When I was around 4 months old I kept getting sick. My doctor said it was just allergies,cold,bronchitis,etc. Around 7 months old I got really sick and went to the doctor. I saw a different dr that day and he said to rush me to the hospital that was 2 hours away because they were better equipped.
My body temperature was 92.7. I was very congested and my liver and spleen were huge. Before we left, the dr got my regular dr and reprimanded her about missing everything that was going on. I also had retroflexion and she said it was bad posture. We went to Memorial Health Hospital in Savannah, GA. I had all kinds of drs come in and check and in May of 2015 they found out I had Type 2 Gaucher Disease They started me on Cerezyme treatments in June.