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They Had No Idea What Was Wrong With Me

No one knew that I had Gaucher Disease. My mother always thought I had a big belly, but my pediatrician told her I had a beautiful figure for a toddler and not to worry. One time I hit my forehead on the corner of a piece of furniture and cut myself. I bled and bled. My mom couldn't get me to stop bleeding and I needed stitches. In retrospect we could say it was most likely that my low platelet count required me to bleed so much, but no one picked up on it at the time.

When I was three years old we moved to Philly and mom took me and my big brother for our regular physical. This new doctor immediately saw there was a problem and admitted me to the hospital.

That was in Sept of 1982. I was admitted to the hospital and it took the doctors a whole week to figure out what was wrong with me. My mother stayed with me the entire time. There is nothing more frightening for a small child then to be left alone in a place where strangers keep poking you and running extensive tests. I was finally diagnosed via bone marrow biopsy. Gaucher disease was this afterthought kind of scrawled into the margins of my medical records. They really had no idea what was wrong with me.

My parents, grandparents, aunts, uncles, and brother all went from having a healthy three old to having a three year old with an incurable and debilitating genetic disease that no one ever heard of before. My family felt guilty and vulnerable.

After I was diagnosed my parents sat down with the doctors and said ok now that we know what she has what do we do about it? They were told there is no treatment but take her home and treat her like a normal child. The geneticist gave only one ray of light- "she's young and there is a lot of research being done right now – in her life there will be treatment!"

As a small child I was very small for my age had boney arms and legs and a protruding belly like a mal nourished child. Because of my low platelet count I would bruise a lot and I would obsess about the bruises on my body. I would constantly point out each new bruise "boo-boo, boo-boo" I would tell my parents.

My father heard it so often that he nick- named me “Boo-boo”.

In preschool, at age 5 year, the other children in my class were not as polite as the adults in my life and teased me about my large belly. They informed me that I was having a baby – and I believed them! I used to stand in front of the full length mirror in my parents bedroom and chant "I'm having a baby" . My parents were at a loss as to what to do with me. They tried to convince me that there was no baby in there, but my friends at school of course knew more then them! At this point I started seeing a new pediatric hematologist, and my mom told him about my "baby". He looked me right in the eye and told me "I've checked very carefully and I can assure you there is no baby in there and if the kids at school tell you that you tell them that its you spleen!" Many years later, when I really was very happily expecting, my mom stood me in front of that same mirror. I look at myself in profile and chanted “I’m having a baby.” We both had a good laugh.

My large spleen and liver were a constant source of worry for my family. They worried that a fall on my stomach could rupture my spleen or break a brittle bone. However, nobody could convince me that I wasn't a normal child. If you were looking for me in the playground, to the dismay of my parents, I could be found running across the top beam of the monkey bars! I never fell off, but I did fly off my big wheel once. I also got hit in the head with a hammer. That incident resulted in double vision and the “raccoon look” for a while. Dressing me was difficult too as my belly was so big that I could not wear anything with a waist, only jumpers and dresses.

In the summer of 1987 at 8 years old I started having extreme pain in my left side, when it got so bad that I couldn't even stand up straight anymore it was decided that I should have surgery. I underwent an exploratory laparotomy, They knew there was a problem with my spleen, but they weren't sure exactly what the problem was. When they opened me up they saw that my spleen had in fact gotten so large that it cut off its own blood supply and half of it had in fact infarcted. They removed more then half my spleen and it weighed over 7 lbs and was the size of a football. They left a small healthy part of my spleen as my body was still producing gaucher cells. They needed a place to go; had they removed my entire spleen the cells would have ended in my bones – a complication we wanted to avoid.

After I recovered from the surgery I had a flat stomach for the first time in my life and because they no longer feared a fall on my stomach I was finally allowed to ride a two wheeled bike!!

After my surgery I was no longer eligible for the clinical trials for the medication I knew was being developed and I had to wait till 1991 when the FDA finally approved the medication.

It was almost 9 years to the day after diagnosis that I started treatment. I started treatment in October of 1991. I have been medication since! My quality of life has improved dramatically and with few exceptions I lead a normal healthy life.

I started treatment just in time to hit my growth curve. I went from being the shortest one in my class to being one of the tallest women in my family. When I started treatment I was 12 years old and 78 lbs.

About 2 years after starting treatment my counts were high enough that I was able to get my ears pierced! This was a big deal for me and my family, as my physician would not let me have them pierced when I was younger .My grandmother was so excited about it that she even paid for them!

The cost of the medication is an issue as well each dose of medication is upwards of $15,000 a dose that's $30,00 a month and $360,00 a year and that doesn't include the costs of doctor visits, regular blood tests and the annual MRIs and bone scans. My mom loves to remind me that I was a "Million Dollar Kid" by the time I was 16.

As an adult I have had to learn some skills to naviagate the healthcare system. I have learned all about getting tests preapproved. Getting $12,000 bills waived and getting $360,000 a year treatment approved.

Since getting married to my husband who is a rabbi at Young Israel of North Ridge, CA, I have moved around a lot and have had many new doctors. With each move came new doctors, and more explanations about my disease. I have learned to stand up for myself and explain my disease and course of treatment to many doctors who never heard of Gaucher disease before I walked through their doors.

I have been married for almost 6 years. Before my husband and I were married my husband was tested for Gaucher disease. He is not a a carrier and as such all our children will be carriers of Gaucher disease. Our 4 year old daughter is a carrier but is at no risk for Gaucher disease. But again since this disease is so uncommon and many doctors have never heard of it I have been told by some pediatricians that I should have my daughter tested since we;; “Gaucher is one of those weird diseases that we aren’t sure how its transmitted” that’s when we know its time to find a new doctor.

Since moving to Los Angeles I have had the opportunity to meet other Gaucher patients. I was 26 before I met another person with this same disease. I went to a patient meeting and met about a dozen other patients. Some have led very parallel lives to mine. But since this disease has such varying systems no two gaucher patients will tell exactly the same story.

With regular treatment I've come a long way from being the girl who had to have 4 people hold her down to have blood drawn. I now have a full life to look forward to, something my parents could only dream about the day they were told "take her home – there is nothing we can do for her."

Betsy Simon
Los Angeles, CA

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