Wednesday, January 25, 2012

A Year To Remember

I think the year Beckett turned two was probably the most stressful since we learned of his milestone delays.  We had no idea that the financial burden of therapy, doctors visits and prosthetics would have on our family.  Our pediatrician referred Beckett to the Blue Bird Clinic at Texas Children's Hospital to see another pediatric neurologist.  The doctor called and expedited an appointment for us.  Instead of the six month to nine month wait he got us an appointment for about 3 months out.  In the meantime, we kept chugging along, going to therapy and working with him at home.  He was making very little progress and it seemed that new things were coming at a snails pace.   At times I found myself crying myself to sleep, praying to God that He would heal my little boy.  Some nights I would get maybe 3 - 4 hours of sleep and going to work the next day running on "fumes". The emotional toll was also showing at home and at work. I needed answers! I couldn't wait to get into an appointment to see a doctor who could tell us what to expect an where to go from here. 

After a wait that seemed like forever, we finally got into see a doctor at the Blue Bird Clinic.  It was a relief just to be in the waiting room.  But that feeling would soon fade into worry and more anxiety.  I showed up with my husband, Beckett and Pyper his twin in tow. We then waited in the exam room with two chairs, a patient table and a computer. Trying to keep 2 years old twins occupied for 30 minutes was a challenge in itself.  FINALLY!! A knock at the door!! She peeked in and introduced herself.  Low and behold she wasn't a doctor, she was a Physician's Assistant. Don't get me wrong, I was glad we were in, but disappointed the it wasn't the "neurologist".

 I guess it's selfish and I should be grateful but the frustration of everything had gotten to me.  After the introductions we continued to share our concerns with her.  She was taking details notes and making observations of Beckett while he was fussing to get out of there.  The level anxiety rose as she began to explain that she was going to recommend genetic testing and an MRI under sedation.  Several of the genetic tests she recommended to have done were rare disorders that either caused a child to have a fatal consequences and or one that would cause him to be needing round the clock care for the rest of his life.  Even though she reiterated that these tests were to rule them out, there was no guarantee that he would not have one.  Some of his symptoms were part of these disorders and the question was there that needed to be answered.  The one genetic test I fear most was the Rhett's test.  This genetic disorder caused boys who had this fatal disease, even mildly only lived a life span of 10 years old.  I couldn't imagine my boys mid-life at 5 years old.  The other tests that she had ordered was Fragile -X, along with about 129 genetic metabolic disorders and a chromosomal karyotype.  My husband and I cringed at the thought of how much all these tests were going to run and "go figure" if insurance would ever pay for them. 

We had to wait almost 3 torturous months for the genetic results to come back.  During this time I spent hours upon hours doing research on the Internet.  I was looking for answers that never seemed to come. I would cry at school and cry at home praying for the tests to be normal. We were still waiting to get a MRI.  Beckett was continuously sick with a cold or ear infection.  After about 3 tries to get him to Texas Children's for an MRI, we got him in.  I hated that day too.  He had to be put under anesthesia for an MRI to get a conclusive view of his brain.  I almost passed out when they gave him the drugs that put him under.  My husband was holding him while they administered the drugs.  He fell limp.  I hated watching that.  I had a sick feeling in my stomach watching him be carried away. It was a successful scan and they told us the results would be read in about 3 days. Again the 3 longest days I had in a long time. 

That day finally came, the moment of truth!  We had the results of the genetic testing and the MRI. The PA called us with the results.  She said all the genetics tests were all NORMAL!! I felt my chest fall in relief. She had the neurologist look over his records and some of the best news of hope I had had in a long time.  He said that there was a discrepancy in his MRI. He explained that the myelin, or white matter in his brain was at 50%.  A typical 24 month old has approximately 90%.  Myelin is basically the plastic covering that insulates an electrical wire. This disorder made it difficult for him to make connections.  My heart then fell again. The emotional roller coaster is exhausting, you never know how or what to feel.  The hope then returned when the doctor said that he believed with massive amounts of therapy and lots of patience, he thought that there would be an 85% chance that he would be fully functional by the time he reached the age of  6 or 7.  I bank and pray on that hope everyday.  This is something I haven't forgotten and hoping that this time the doctor's right.  Of course we will see, because there are changes everyday, both good and bad.