Gaucher AwarenessMy story

By: Emma Goldstein

About MeI leave early every other Tuesday to get

infusions

I have a rare disease called Gaucher

I get treatment to make sure that I don’t get any symptoms

What is Gaucher It a Jewish genetic disease

It is also known as a Lysosomal Storage Disorder

It’s when the cells in your body are missing an enzyme called glucocerebrosidase which is in charge of digesting or getting rid of the worn out cells

When you are missing the enzyme you have a build up of

fatty products in cells that can

cause harm

Dr. Phillipe Gaucher

discovered the disease

Symptoms for Type 1Type 1 is the most common kind of Gaucher and

the least severe

When you have a build up of these cells in your body, the symptoms can be: enlarged organs, like a liver or spleen you can feel very tired you may easily bruise or bleed your bones may break easily You may have bone pain You may have a swollen stomach You can have low platelet counts

What my Treatments are They are something that I go to the hospital for to get

medicine

I get the medicine through an IV which is a little plastic straw that goes into my arm and is attached to tubing to get the medicine into my blood stream

The medicine helps to make sure that I never get any symptoms but it can’t get rid of the disease

I get my medicine every two weeks and will take it for the rest of my life. But I have no symptoms and am healthy.

When I am older I will be able to take a

pill instead of an iv treatment

Awareness Early diagnosis is important because it helps people

get treatment before there is damage to their body.

It cannot reverse bone damage but it can help get rid of all the other symptoms.

Many people may not know that they have Gaucher until it goes into their bones or has caused damage to their body. That’s why awareness is important.

I had a 25% chance of getting Gaucher based upon my parents.

I feel lucky because I was being tracked before I was even born so I got the treatment before I had severe symptoms.

VOTE FOR MY SELFIESince October is Gaucher awareness month there

are many ways to raise awareness. I posted a selfie on a website as part of a Gaucher selfie contest to raise awareness.

Go to www.gaucherdisease.org/gaucher-awareness-month-online-event/ngf-selfie-contest.php