Wednesday, July 20, 2011

Having to Eat My Words...

I was not sure where to start with posting in the last week.  I got some news that was SO shocking I thought for sure it was wrong but as I found out last night it is not.  Now I am sure you are confused but let me go back and recount all that has happened.

On 06/30/11 the children went to Nevada Imaging Centers and had an MRI done with and without contrast.  It would be two days before the results were ready and sent to the doctor.  Since the neuro doctor ordered the tests and I could not get an appointment with him any sooner than in another 6 weeks that was just too long for me to wait.  So I asked the results of the MRI be set to the genetics doctor where I had an appointment to meet her on July 7.  This way I could get some answers in one week versus six weeks.  I HATE waiting!  At this point I am out of patience with the doctors and I am moving to take control of Joseph's medical issues.

So on July 7 I traveled to Utah to see the geneticist.  In Nevada there is only ONE, yes you read right, one geneticist in the entire state.  To see this person I was told there was at least a year wait.  What I was hearing from other people, mostly professionals (other doctor, OT, PT, and so on), was the wait was really more like 2 to 5 years.  It all depended on the geneticist and how interested they were in your case.  This is yet again not good enough.  I do not want to start looking for answers with genetics when they are 5.  By then the optimal window for getting them therapy will have come and gone.   When I found out the private insurance my husband has through work covered a geneticist in Utah because they were aware of the overly long wait I went for it.  The trip to Utah was uneventful.  I had to rent a car to go because my van would have never made it due to the heat.

I got there a little late because Enterprise did not have my car ready when I got there.  It took 45 minutes to get my car and get out of there.  Once we arrived and got to see the doctor I told her the medical history of Margaret and Joseph.  As she was looking at the children the geneticist was WAY more interested in Margaret than Joseph.  She just dismissed my requests to test Joseph first because of his neurological issues.  The geneticist was determined to check Margaret for Williams Syndrome.  The doctor said any genetic illness affecting the children would be autosomal recessive and what ever Margaret had would probably be affecting Joseph too. 

At this point I thought the doctor was throwing around the term autosomal recessive to sound important and confuse me.  I am sorry to report what happened was I was getting annoyed and angry.  I had to bite my tongue because if I offended the geneticist then my only other choice would be to wait years to see the one and only geneticist in Nevada.  So let me explain why I was mad.  If you remember genetics from basic biology class autosomal recessive is Rr.  This would mean I would be Rr and so would John (Rr).  When you cross the genetics you get RR, Rr, Rr, and rr.  This means there is a 25% chance of not having the disease or carrying the recessive trait for the disease.  There is a 50% chance of not having the disease but carrying the recessive for the disease.  The last is a 25% of getting the disease.  So there is only a 25% chance of any child getting the disease.  If Margaret has it there is little chance Joseph would.  Another thing I did try to point out is that Margaret and Joseph are fraternal quads and therefore have a different genetic make-up and the symptoms of the problems they have are VERY different.

In any case the doctor ignored me.  This is NOT a good way to build a relationship with the family you are treating.  I got an order to get a micro-array test DNA test for Margaret and I have to wait to get the results back before I can go back and see the doctor again.  When we go back I plan to confront the doctor about the idea of Joseph having to have the same disease as Margaret.  I want Joseph tested for a few syndromes that specifically fit him with his hypotonia issues. 

To end our visit I ask about the MRI test results and the doctor read them quickly out to me.  The first was Joseph and I was told his MRI scan was completely normal. Then the doctor said the MRI scan for Margaret showed diffuse white matter injury and periventricular leukomalacia (PVL) consistent with a diagnosis of hypoxic ischemic injury.  For those of you who do not care to google all this to figure out what it means is that Margaret showed signs of severe brain damage including having holes (cysts where the brain matter had died) in her brain.  I was so floored by the news I did not know what to say.

When I got home and told my husband he said it would like the imaging center confused the scans of the children.  This made sense to me.  I had suspected Joseph had brain damage because of his neurological problems.  I made the radical move of calling the imaging center and told them I think they might have made a mistake.  I was put though to the radiologist who read the film on the children, Dr. Orrison.  I told him that I thought he read the film correctly but they were reversed.  Joseph had an MRI when he was 14 months old in Alabama and we were told he showed signs of global prankamal volume loss with mild swelling in the lateral and third ventricles.  This is all most word for word that was written in Margaret's MRI.  Dr. Orrison understood my concern.  He asked if we could bring one of the children in for a quick, 10 second, scan so he could compare them.  I told him Joseph would be the more cooperative so we could try him.  John took Joseph back for the scan and the film was compared right there.  Joseph shows NO signs of brain injury!  We were shocked.  A few days later Dr. Orrison was kind enough to invite me to his office so I could see the film of both children.  Being their mother and I know the head shape of the children as soon as I saw the film I knew Dr. Orrison was right.

I don't know what to make of Joseph's neurological problems except that is has to be either a biochemical issue in his brain, an inborn error in metabolism or genetics. 

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