Children Fighting For Their Lives & Those We’ve Lost |

Children Fighting For Their Lives & Those We’ve Lost

Posted by Melissa | Filed under Gaucher Disease

As mentioned in a previous post, Carrie Ostrea is working with the National Gaucher Foundation to get our children listed in their newsletter in an effort to raise awareness, and hopefully get things moving more quickly on finding treatment and a cure for children with Types 2 & 3.

So far, these are the precious children who are fighting for their lives right now (as posted through the Yahoo! group set up for parents who have children with Gaucher).

Fighting Gaucher: 11 Children

* Addison B. from Virginia. Type 2, age 7 months (diagnosed at 7 months).
* Alexa I. from Kansas. Type 3, age 3 (diagnosed at 18 months).
* Ethan M. from Kansas City, Missouri. Type 2, age 23 months (diagnosed at 11 months).
* Hannah O. from The Woodlands, Texas. Unknown type, age 9 months (diagnosed at 5 months).
* Jordell W. from Mason City, Iowa. Type 3, age 3 years (diagnosed at 18 months).
* Kyle I. from Ontario, Canada. Type 3, age 10 months old (diagnosed at 8.5 months).
* Mario M. from Jamaica West Indies. Type 3, age 13 years 8 months (diagnosed at 5 years).
* Raechel R. from Tennessee. Type 3, age 17 years (diagnosed at 6 months).
* Tylan C. from Nevada. Type 3, age 4 years (diagnosed at 18 months).
* Connor M. from Leachville, AR. Type 3, age 11 (diagnosed at 15 months).
* Savannah H. from NC. Type 2 or 3, age 5 years (diagnosed at 1 year).

Children We Have Lost To This Disease: 7 Children

* Avery M. Type 2. Diagnosed at 4 months, passed away at 15 months.
* Joseph D. from Illinois. Type 2. Diagnosed at 12 months, passed away at 3 years 26 days.
* Kyle from New York. Type 2. Diagnosed at 7 months, passed away at 25 months.
* Aaliyah L. from Kentwood, MI. Type 2. Passed away just shy of 3 years (2008)
* David E. from Mexico. Type 2. Passed away at 7 months (2007).
* Josephine R. Lampitt from VA. Type 2. Diagnosed at 7 months, passed away at 9 months. (Feb `09)
* Ryan R. from TN. Type 2. Diagnosed at 11 months, passed away at 2 years.

And there are still more parents submitting their information that haven’t yet been added to this list.

This completely blows my mind…here we have this incredibly rare disease, yet everywhere you turn there are children diagnosed with it. And the list keeps growing. It makes me wonder, how rare is it really?

Considering how long it took Kyle to get a diagnosis. His first symptoms (enlarged liver, spleen) showed up at about 3 months and he wasn’t diagnosed with Gaucher Type 3 until he was 8.5 months old…5.5 months to get an answer.

So I have to wonder, how many other children are there around the world who haven’t yet been given a diagnosis? What about the children in countries where this isn’t seen, like the child in Jamaica who is the only child there with Gaucher disease? How many children are not being diagnosed because of poverty, lack of knowledge, misdiagnosis (like when everyone was so sure Kyle had cancer), etc.?

How long will it be before the rare diseases like Gaucher become as commonplace as cancer or aids?

A child of a parent who is a carrier of Gaucher has a 50% chance of being a carrier – now think of how that can snowball…as the mutated gene gets passed on and on and on…and spreads, and spreads, and spreads…

The chances of 2 carriers getting together and having children is rapidly increasing – more than I think we’re even aware of. And for every child those 2 carriers have, there’s a 1 in 4 chance their child will get Gaucher Disease.

Yes, 1 in 4.

My husband and I had 2 boys and one of them has Gaucher Disease Type 3…no, these aren’t astronomical lottery odds at play. That’s why I think it’s so damn important that these rare diseases get as much interest and funding as the other common diseases and cancers.

I mean shouldn’t we be finding a treatment and a cure before they become so wide-spread that they get added to our everyday disease list?

3 Responses to “Children Fighting For Their Lives & Those We’ve Lost”

Michell McKellar Says:
May 8th, 2009 at 3:23 pm

Before my nephew was diagnosed with Gaucher Disease, I had never heard of it before. After doing a bunch of research I began wondering how rare this disease really is? There must be more carriers of this mutated gene than what anyone will ever know, in order to get the disease both parents must be carriers. There are more and more cases of children being diagnosed with Gaucher types I, II, and III. So it really makes me wonder how many people out there carry this gene and don’t even know it.
Patti Says:
May 9th, 2009 at 4:48 pm

Just read what you posted Melissa and your right a lot of people don’t even know this is out there but they won’t know until they hear about it through a friend or someone that has it.There are so many things we know nothing about.The reason people become aware of something is that it happens to them or someone they know.People can’t worry them selves about medical things that have not happened to them or there family.I have seen a lot of things on TV about the human gene and most of us have not heard of.We can’t possibly know ever gene out there.Like the odds of two parents having a dwarf baby it can happen because we as people don’t know the family tree medial back ground of everyone in your family.A friend of mine her boyfriend has suffered falling asleep at the wheel or where ever Just now after 40 years they have put a name to it and are treating him.He nearly died.It’s also a gene thing he got from his father and passed on through the men in his family. His father died and so did his grandpa with the same thing but not until now they can treat people.Maybe now his sons will have a better life.I read that Nova Scotia has the highest cancer rate and just now they found out why hummm because of something in the water.But for how many year have them people been eating things from the water? Now they all have cancer….Gaucher Disease has been around sense the 1800’s how many people died and didn’t know what they had…now there is treatment.
Patti
Donna Says:
January 25th, 2010 at 1:23 pm

Our Baby, Brandy Jean was born perfectly healthy we thought and so did the doctors. At five months old she passed out and we went to the hospital and never left. At 7 months old, on January 11, 1990, she died with Gaucher’s Disease Type II. This was beforethe internet and it was so hard because I was never able to find anyone who had lost a baby with this rare disease.