little-kyleWhen fellow copywriter Melissa Ingold got the news her baby Kyle didn’t have cancer last October, she and her husband Jeff were relieved.

Until they found out that Type III Gaucher Disease is considered terminal, with a 0% survival rate beyond age 10.

Melissa wouldn’t wish illness on any child, of course – but she couldn’t help finding it bittersweet when she read an American Cancer Society article stating that 97% of infant cancer patients achieve complete remission.

She says on Kyle’s blog: “So is it any wonder that I wish Kyle’s diagnosis had of been cancer, that he had of been given a 97% survival rate? And because he would have been diagnosed at 3 ½ months old, they would have caught it so, so early. I mean, by now his treatment could have been done and over with, he could be in remission and living a normal life.”

When the Ingolds were told it was Gaucher’s, there was a brief period of hope while they waited to hear if it was Type I, which usually sees its victims survived to adulthood.

It wasn’t. Kyle had Type III.

What Is Gaucher Disease?

You don’t “catch” Gaucher Disease. It’s genetic. It’s considered so rare very little attention is spared in the medical community and even less in the media.

As a link on the blog Melissa started for Kyle says, “rare diseases aren’t so rare”.

Particularly when it’s your unique and precious child who has one.

Type III Gaucher children lack a vital enzyme preventing fatty acids from building up in bones, liver, lungs, spleen and brain, swelling each cell beyond tolerance levels.

pictures-043 The toll it takes on their tiny bodies, bones and brains is catastrophic.

Gaucher’s symptoms depend on which of the 3 types your child is unfortunate – or fortunate – enough to have. Symptoms range from “minimal” to total disability and death before 3 years of age.

Typical of Type III (the sub-group Kyle was diagnosed with): Swollen stomach (enlarged liver and spleen), fragile bones, eye displacement and later, neurological involvement and death.

Can It Be Treated?

Kyle has already been started on painful and expensive enzyme replacement therapy. There have been many long-distance trips to specialists and hospitals. The family is now gearing up for a 1 ½ to 3 month stay in Toronto, miles away from home, while Kyle undergoes a high-risk bone marrow/cord blood transplant at The Sick Children’s Hospital.

Melissa has put her name on the waiting list to stay at Ronald McDonald house, so she can be with Kyle throughout – but there is a slim chance that will work out, since there are hundreds of families on the waiting list, and not nearly enough room. She and her husband will have to cope with hotel fees, travel expenses, food, laundry, time away from work, and still pay all their regular bills while Kyle undergoes and recovers from this high-risk and grueling procedure.

I too once had to spend time in another city while my 2 children both underwent testing and treatment for a rare genetic disorder, and I know what it’s like to have to cope with staggering medical-crisis expenses that banks don’t give loans for – when all you want to do is be there every minute for your very sick child.

What Can I Do To Help?

So while Melissa is focused on setting up the new charity organization, “Neuronopathic Gaucher Foundation” – dedicated 100% to raising money directly for research – and organizing an online fundraiser for it, I’m breaking with business protocol, and putting a link to Kyle’s blog on my site.

Please visit it, and make sure that Kyle’s is not just a statistic brushed under the invisible rug of “rare” diseases. Please make sure his story is not just a small, still voice, unheard, and silenced far too soon before its time.

There are things that can be done to help children with catastrophic, painful, life-ending diseases like Gaucher’s.

But not if we don’t make it our solution too.

UPDATE: Melissa and Jeff have decided not to go ahead with any radical surgery at the moment. She explains why in a blog post, It’s Official

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Filed under: Issues I Care About