7 Major Tips To Getting Your Health Into Order

My friend Jamie shares her unique story about finding out she had a rare genetic disorder called Gaucher Disease. Jamie shares 7 major tips to getting your health into the right place being your own health advocate.

Stomach and digestive issues have been the bain of my existence for as long as I can remember. I was always a healthy eater growing up, but something would always seem to bother my stomach. Throughout college, I started noticing chronic fatigue and discovered I had low B12, which I thought was the cause. After I graduated in 2014, my stomach issues were still persisting, and upon moving to NYC I began to see GI doctors to try to get to the bottom of what was going on. Figuring out a diagnosis can be extremely tiring and frustrating and over the course of 4 years, I saw multiple doctors who all diagnosed me with something different (swallowing air, pelvic floor syndrome, food sensitivities, SIBO, etc.). Finally in 2018, my stomach issues got so bad to the point where after eating, I couldn’t breathe or swallow properly. Instantly, I knew something serious was wrong so I quickly found a new GI doctor who sent me to get a CT scan of my abdomen, something no other doctor had ever suggested. The results from the scan showed that my liver and spleen were enlarged and my spleen was double the size it should be, protruding as far as my belly button when it should be hidden under my rib cage. Finally, I was reassured that how I felt was not in my head.

With this information, my GI sent me to see a hematologist to help with the diagnosis, the main concern was that it could be lymphoma. I was able to see the hematologist in less than 24 hours and worked with him over the course of three very tiring weeks. I had endless blood work, more CT scans, MRI’s of my back and brain, x-rays, and a bone marrow biopsy. At the end of it all, I was diagnosed with Gaucher Disease - Type 1, a rare genetic storage disease commonly found in Ashkenazi Jews (which I am) and one that I was born with. This disease is usually found in young children and rarely diagnosed in adulthood, especially at 26 years old. I was also one of the first people to be diagnosed with this disease through GI symptoms, as typical indicators are anemia, bone pain, large stomach from enlarged organs, and extreme fatigue. Gaucher Disease means that my body is not producing an essential enzyme so my organs are storing “garbage” that can’t be broken down. Since the disease was in my body for 26 years without any sort of treatment, it seeped into my bones causing me to have osteoporosis throughout my spine.

All of my symptoms, hepatosplenomegaly (enlarged spleen and liver), low platelets, back pain, and fatigue, finally made sense. Because my organs were so enlarged, it was clear why I was having stomach issues, my entire digestive system was compromised. Luckily, treatment options are available for this disease and in July 2018, I started bi-weekly IV infusions of the enzyme, a month after being diagnosed. Once my hematologist made the diagnosis, I researched a Gaucher specialist in NYC (there are only 2) and made an appointment. I am now being treated under her care, which allows me to be part of research studies and closely monitored by someone who has been studying the disease for years.  I will need to have these IV infusions for the rest of my life, but am grateful that there are treatment options available, since they are relatively new. The medication for this disease is one of the most expensive drugs on the market, so it is now important for me to always have really good health insurance.

My experience has made me grateful for the advancements in the health world and for my strong support system. Without them, I wouldn’t have been able to get through the last 9 months, from doctors appointments to coming with me to my first few infusions when I was too scared to go on my own, especially since one of my biggest fears has always been needles. It was friends and family who really helped me through a tough time, and made me realize that these experiences strengthen you, and show you what you are capable of handling.

Now after 9 months, I have moved from hospital infusions to home infusions where a nurse comes to my apartment. My liver is back to normal size and my spleen has started to decrease in size! While I am fortunate enough to have found out what was going on with me, so many people are still trying to get their health issues resolved. After being misdiagnosed over and over again and having this disease for 26 years unknowingly, I have compiled my major tips for how to try to get your health in a good place.

  1. Be your own advocate! This is the most important factor as no doctor is feeling the way you do, so always listen to your body and continuously advocate for how you're feeling.

  2. Do your own research. Look into what your doctor thinks you may have have or what they have diagnosed you with to understand what your treatment options are, how common it is, what you can do to relieve symptoms, etc. If given a prescription, understand what the medicine is, how it works, and what your dosage is.

  3. Look into ways to treat whatever you are diagnosed with. Western medicine is all about giving you “pills” to get better. See if there are any natural/holistic ways that can help your healing and consider seeing a functional doctor if applicable.

  4. Always get a second opinion. If you get diagnosed with a disease or illness, go see a specialist, but always get someone to tell you a second time that you 100 percent have that health issue.

  5. Stay positive. It is extremely grueling to have to go to so many appointments and then still not know what is going on. When I was in the process of getting diagnosed, it was like a full time job going for CT scans, blood work, MRI’s, receiving results, etc. Just continue to have a positive mindset and know that you will get to the bottom of everything soon.

  6. Rely on your support system, they are important in helping you to get through the tough times and want to be there for you.

  7. Know that it’s not in your head! You know your body best, and if your gut instinct is telling you something is wrong, then it most likely is.

X - Jamie

Guest piece by Jamie Koll

If you have any questions for Jamie, or what to hear more about her journey, you can contact her via e-mail at jamiekoll2@gmail.com!

Lauren Young