Operation Hope: Good News/Bad News/Scary News



I mentioned earlier that I met with Gavin’s immunologic,  Dr. Wasserbauer (Akron Children’s Hospital) while at Gavin’s IVIG infusion.

As the title states, this was a good news/bad news/scary news type conversation. 

Two and a half years ago, when Gavin’s immunological problems came to light, the very first concern was that Gavin had something called Ataxia-telangiectasia.

This explained the immunological and neurological dysfunction.  It’s the only thing that has ever tied just about everything together, in a nice, neat, scarier than all hell little bow.



At the time, initial tests indicated that thankfully, we weren’t dealing with that terminal condition. 

However, over the last two and a half years, Gavin’s condition, whatever it is, has continued to progress.  His immune system is more and more compromised, with additional immunoglobulins being affected as time has passed.

This was brought up again today by his immunologic during our visit today. 



image

From what I understand, the only thing Gavin is really missing is the telangiectasias or little tiny spider veins that form on the surface of the skin and eyes.

My understanding is that some kids present differently and lack some of the symptoms. These are considered to be Ataxia-telangiectasia like disorder. Again, my limited understanding is that these both present in a similar manner but some symptoms are different. 

The only way to diagnose Ataxia-telangiectasia for sure is via genetic testing. 

Our doctor informed us that insurance wouldn’t approve the test and so it hasn’t been done.  This, I didn’t know..  I thought we had basically tabled the idea because at the time, it fit but isn’t also didn’t fit.

Does that make sense?

Everything with Gavin has continued to progress and get worse.  That’s now raising red flags that seem to point to Ataxia-telangiectasia once again.

One of the things we have to do is get him back to the eye center at the Cleveland Clinic. We need to see if the telangiectasias that were present in his eyes before, have progressed or been joined by more since.

They took very detailed photos of Gavin’s eyes the last time and so we have a solid baseline. 

When dealing with a progressive disease, a good baseline is so incredibly important.

Next we need to find out if the chromosomal micro array that (extensive genetic testing) had been done, included the test for something related to Ataxia-telangiectasia.

This really brings up some old fears again..

The good and unrelated news is that Gavin now has allergy eye drops.  That’s positive. 

The bad news is that insurance won’t cover the only way we can find out for sure if Gavin has Ataxia-telangiectasia. 

The scary news is that not knowing for sure doesn’t really make a difference because there is nothing that we can do.  There is no treatment and no cure. 

Below, is some information about Ataxia-telangiectasia via Johns Hopkins.  The original link is here. The information below is quoted from the Johns Hopkins website and I take no credit for it. 

It should be said that Ataxia-telangiectasia is extremely rare and Johns Hopkins is the place to be for help with that.

What is Ataxia-telangiectasia

Ataxia-telangiectasia (AT) is a rare, inherited disease that affects several organs and systems in the body, including the immune and the nervous systems. Most notably, it causes progressive degeneration of the cerebellum, the part of the brain that controls movement and speech. Symptoms develop in early childhood. The most serious complications include cancer (typically leukemia or lymphoma), which develops in about 20 percent of children with A-T, and recurrent infections due to a malfunctioning immune system. 

Symptoms:

Uncoordinated movements (ataxia) 
Poor balance 
Slurred speech 
Recurrent respiratory infections caused by immunodeficiency 
Spider veins (telangiectasias) on the skin and eyes  
Delayed physical growth and sexual development 
Diabetes 
Diagnosis 

Physical exam:

Laboratory tests, including the fetal protein alpha-fetoprotein, which remains elevated after birth in people with A-T and several other conditions.

Treatment:

There is no cure for A-T. Treatment involves managing and relieving the symptoms. Physical therapy and speech therapy are often recommended. Injections with gamma-globulin to strengthen the immune system may be prescribed. Children with the disease usually die in their teens or 20s.


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About Rob Gorski

Father to 3 with Autism and husband to my best friend. Oh...and creator fo this blog. :-)

  

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AMDuser
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AMDuser

I will pray for you guys and even more for Gavin because that is scary news even more then you can’t get the tests to test for it and what the kids with that goes through.

lostandtired
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AMDuser thank you

GildaMSanchez
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GildaMSanchez

Hi Rob: Have Gavin’s doctor appeal his case to the insurance company to warrant the need to determine Ataxia-telangiectasia through genetic tests. I’m in the midst of pushing for whole exome tests for my son. My HMO at first denied him a Fragile X test, but his UCLA geneticist fought with an appeal and won. My son got the test and we now know Fragile X isn’t causing the autism. His geneticist recommends whole exome and I’m also going to request a P450 2D6 test for drug metabolizing. Some genetic tests are very expensive but I think it is justified… Read more »

lostandtired
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GildaMSanchez  I’m assuming they did appeal it.  However, we are just learning about this so I don’t know for sure.  The exome test is what I need to find out about.  He had the fragile X test done years ago and was negative.  He had the chromosomal micro array but I don’t know it that included the exome test.  
As soon as his neurological specialist gets back in the office next week I’m going to find out.

James
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James

Wow, JH like in Baltimore??? I live about 40 minutes away, i almost wonder if we could organize something down here for you…