Wednesday, July 27, 2011

I know people find it hard to believe that James has started to read but I am not kidding.
He is one smart kid. I think he is a kinesthetic learner and that is why he has learned so
by finger signing the words he does not know. Then he has SUCH a great memory he
just remembers the word later when he sees it again. It is amazing!
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Wednesday, July 20, 2011

Photos from the MRI

                                                      Look at that perfect little Joseph brain!


                         This scan is without contrast.  You can see the large right lateral ventricle.

 This scan is with contrast. Note the right side is all highlighted.  There should be a larger black area for the ventricle.  You can also make out the cyst on the right front of her head.

              This scan shows Margaret's inflamed sinuses.  I will have to take her to an allergist.
 This scan is with contrast and the highlighted area shows the large cyst in Margaret's right frontal lobe area.

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. 

Sunday, July 3, 2011

Always knew Joseph had a problem...

After asking the nurse at the NICU was Joseph taking his four ounces of formula without a problem and she said yes I had NO idea how complicated my life would become when Joseph came home. The hospital released Joseph, just two days off of oxygen and weighing only 4.4 pounds, home. The night he came home I fed him his four ounces and laid him on the bed. I stepped away for a few minutes to rinse out his bottle and when I came back he was blue and had quit breathing. I tried to revive him but I could not so after a moment of panic John told me to start CPR while he called 911. That was the most terrifying time in my life. That I was holding my child in my hands and he was going to die.

I was able to get him to start breathing again right before the ambulance arrived. I was able to do this by doing a combination of CPR and what you do for someone who is choking. I had NO idea why he had quit breathing! It was a long ordeal but in the end it was determined that Joseph was suffering from an extreme case of GERD. He was refluxing high enough to interfere with his breathing but not high enough to vomit.

During this time we also took Joseph to a pediatric neurologist. I was not ever fond of her because she just did not see Joseph the way I did. She kept telling me that Joseph will be fine and that he was making great improvements but I felt different. I knew Joseph was different and having severe problems but the medical people just did not seem to agree with me. I did not have time to fight this because I was trying to take care of three babies that had to be fed every three hours around the clock and then had to sit up 30 minutes afterwards to help prevent reflux.

The neurologist told us that Joseph's MRI (done when he was 14 months old) was fine. She said Joseph had microcephaly (small head) and had a small brain but it was ok because it was in proportion to his head. Then she said all of the parts of his brain where there so he was in good shape. It was not until a few weeks ago that I got the actual MRI report. So my husband and I have been thinking Joseph's brain was normal and then I read the report. The report said, "there was mild swelling in the subarachnoid space along with swelling in the lateral and fourth ventricles. This is consistent with global parenchymal volume loss. " Now if you are like me I had NO idea what this meant so I had to google the information.

What I found is that this is synonymous with brain or cerebral atrophy. There are lots of things that can cause this. Too numerous to mention. Brain atrophy though is something seen in people with multiple sclerosis, Alzheimer, and Parkinson Disease. It is also seen in people with cerebral palsy (CP). Now this is important to mention because the reason I pressed the neurologist to do the MRI when he was 14 months old was to look for something that would cause CP. I told her that when Joseph was first born he had his fists clenched shut for about 6 months or so and I thought I say signs of his eyes doing something called "sundowning". This is where the eyes want to look forward but then slowly rotate downwards towards the feet. Sundowning is a sign of neurological damage. Later Joseph did finally open his hands but then he twiddled his hands in front of his face and that was all he did for another 6 months. Joseph seemed to have no awareness of brother or sister much less my husband or myself.

The neurologist just kept putting me off and would not diagnose Joseph with CP. She insisted that Joseph would get better. She said he was behind because he is a preemie and then had so many set backs and surgeries. Again, on instinct, I knew she was lying. She gave Joseph the diagnosis of developmentally delay with hypotonia.

It has been 2 years basically since I have been trying to get Joseph the diagnosis of CP. Being diagnosed with developmental delay does little in getting Joseph the services, therapy, or equipment he needs. On July 1 I took Joseph to a pediatrician and showed him the MRI report, a letter Joseph's physical therapist wrote describing his motor issues, and had an autism specialists also go with me so she would tell the doctor Josephs other medical issues. This doctor actually listened to everything I had to say. We talked about Joseph and his development for about an hour. At the end the doctor said he would be comfortable in diagnosing Joseph with CP. I was floored! Finally, after 2 years and 15 doctors, a doctor listened and helped! The pediatrician was interested in Joseph, the whole person, and not just the "sick" parts of Joseph. Now my little boy has been medically diagnosed with CP, hypotonia, expressive apaxia, gross/fine motor delay, subglottal stenosis (narrowing), dysphagia, GERD, blindness and incontinence. The diagnosis of incontinence was given because Joseph is NO WHERE close to being potty trained and with the cerebral atrophy there is a high chance he may always be incontinent.

This is a HUGE victory for Joseph. Maybe now I can get help for him! : )

Friday, July 1, 2011

Time for a change...

It has been SO long since I have posted here. I changed the name of the blogg because I think it better reflects my life and the things that are happening. From December of 2009 to February 2010 we moved away from Huntsville, AL and headed back to Vegas. We had to move to a real ghetto area because it was all we could afford and I have to say I got a real education on what it is like to be poor!

We moved to Vegas because with the job market crash neither my husband nor I could find a job. Life was super tough! In leaving Alabama the biggest regret I have is for the children. We has physical therapy (PT) and occupational therapy (OT) for Joseph and Margaret. In moving to Vegas we lost about six months of therapy for them. Also Nevada is in such a bind financially that most if not all the special need programs have been reduced or gone.

When the children turned three they went to the local school district to be assessed for special education services. I was told Margaret is autistic, James is autistic, and Joseph is orthopediacally impaired with developmentally delayed. With the school district making these claims I am spending the summer getting my children to specialists.

The first specialist is an autism specialist. They all went to her to see if they are truly showing autistic traits. After that my mission is to try and find why Joseph has the medical issues he has. So I scheduled a visit to the pulmonologist, geneticist, urologist, orthopedic specialist, eye doctor, regular pediatrician, pediatrician that specializes in special needs children and the dentist. This is in addition to the therapy appointments and anything else that comes up. LOL

I have been able to get the children registered with the local Regional Center. Sadly, with the budget cuts there is little funding so my children are on the waiting list to get services. So who knows when we might get any services.

I will have to continue to write more as I start to catch the blogg up. There is LOTS to tell! :D