My son, Noah, now 15 years old, first started having health problems as an infant. First, he had asthma, then chronic pneumonia, and as he got older, lots of horrible leg pain that made him writhe on the floor in tears. It was awful! There were a few times we thought we might lose him to a simple infection. As time went on, it was discovered he had a low platelet count and a very large spleen and liver.

We were sent from doctor to doctor. You would think living in a large city with huge medical institutions like Cleveland Clinic and Case Western; it would be easy to get a diagnosis. It proved to be anything but!! I was told often that what he had was rare, and he would probably die from it before he was able to get a diagnosis. I kept looking in desperation. Sometimes a feisty resident would search medical journals like crazy trying to figure it out, but to no avail!

I kept searching the internet and going from doctor to doctor. Noah got sicker and sicker and was almost bedridden, he would tire so easily.

Much to my surprise and relief, he was diagnosed when he was 7 at the local county hospital, by a doctor that worked in a clinic in the Middle East where they treated Gaucher patients. Almost 2 years ago my son would be found to have the type that affects the brain (type 3). This disease will slowly take my son from us. Though there is no cure, we continue to work hard to get the word out about rare disease and the need for funding for treatments and eventually a cure. I dream of how amazing it will be when that day comes!

Theresa Sweeny
Ohio

1 thought on “Gaucher Type 3 — Difficulty In Finding A Diagnosis For Rare Disease”

  1. Jill says:

    Those sound like classic Niemann-Pick symptoms too. But neither disease has a great prognosis.

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