My name is Brittany, I’m 24 and I have Type 1 Gaucher’s Disease. All my life I’ve been tired. Very tired. As a child I played every sport you could think of. But mainly I was a competitive dancer throughout High School. I slept through an entire dance practice the night before a competition and won an award for that. Kind of funny looking back on it. Every teen is tired, so we never looked into it. I bruised easily, my joints hurt and I had low energy.
Every car ride I would fall asleep instantly. (And I still do.) I thought that was part of being a teen. So did everyone else.I never really got sick to where I had to be hospitalized. Looking back, there were lots of signs that should have led to more than the EKGs I had on my heart. My father passed away from an aneurysm in his stomach, cardiomyopathy and his spleen was enlarged. He was just 23. Just two years older than I was when I got diagnosed with Gaucher’s. I believe that he had it. Although nobody in my family has gotten a genetic test. Which makes me frustrated.
Fast forward to 2011. I had just come home from my first year of college and was having dinner with my roommate in our apartment. The next morning she woke me up telling me she thinks she has food poisoning, was vomiting for hours and to prepare myself. It hit me later that day. I slept in the bathroom. I finally feel better so I go to work. That night I felt strange. My fingers started tingling and I started to get chills. I leave work and call my mom. She heads over just in time for my 104 degree fever to hit me. I get delusional. I can’t talk or pick my head up. Fever goes down and I feel fine the next day. I’m at work again and feel as if I just took a blow to my upper stomach and lay on the ground in a ball. I then go to the ER where the Dr was extremely rude, told me I had the flu and walked out.
Basically acted as if I wasted his time. That night I wake up to the worst pain I’ve ever felt. Again, my upper stomach. Lucky me, my mom can’t drive stick, so I drive to the ER at about 3am with my head on the steering wheel, holding my stomach with my left hand and shifting gears with the other. I get there and am told I have gas, was given a pain shot and sent home. I was given a referral to see a GI Dr.My 104 fever returns the day of my GI appointment. He does an ultrasound and I am immediately admitted to the hospital.
My spleen is at the point of rupturing. Had the previous two ER Dr’s done a scan of my stomach, I would have skipped some of the drama. Now I’m in the hospital and it’s like I’m some kind of alien. I’m given two standard antibiotics which killed off my platelets. I am then transferred to a 24 hour surveillance ICU room. I had FOURTEEN Drs on my case. They were all confused. One is convinced I left the country, another thinks I have meningitis and another wants to take my spleen out. There was one Dr, a Hematologist who was quiet but studied me carefully. He made a list of every test he wanted, starting from least invasive to the absolute worst.
I was lucky enough to get the entire list and then some. On top of the stress I was in, I could not eat and the only pain med I was allowed was Dilaudid… My nurse overdosed me. Yes, this is real life.I was told I could have cancer, meningitis or HIV. Unbelievable right? After my spinal tap, lung test, infectious disease test, HIV test, EKG, numerous X-rays, CAT scan, dopplers of the veins in my legs and two and a half bone marrow biopsies, the Hematologist determined that I, in fact, had Gaucher’s. I was devastated and was just fed up. Why me? This doesn’t make sense. Nobody else in my family has it. I’m not even Jewish. I then got a second opinion at the University of Chicago, Comer’s Children’s Hospital where I started infusions right after my 21st birthday. They made me feel so much better and the infusions were a breeze.
After a year of infusions at the University, my spleen returned to normal and my levels were stable. I then transferred to a closer infusion clinic which turned my life into Hell. That is a story in itself I have since stopped getting infusions and am taking the new pill Cerdelga. My quality of life has since greatly improved, although I still get tired often. I can live my life how I want and have taken up heavy weight-lifting. If you can believe it, this story has been shortened. I can go on about insurance issues and things like that for days. But this is how my journey started. Just weeks before my 21st birthday and my life was turned upside down. I love helping others and enjoy being a voice for the ones who are too shy to speak up. We are a small family and together we can bring more awareness and help the ones who need it!Thanks for reading,-Brittany Houchin; Griffith, IN