Big Day!

I've been waiting in anticipation for this day for 14 months...  the day we are on a road to answers; the day when we have a plan; the day when somebody might know something about Jayson that nobody else knows.

We were scheduled to have our genetics appointment a month ago.  My heart was completely broken when I received a phone call just a couple of days before the appointment to tell me I had to reschedule and that my doctor was no longer available.  They didn't know when she would be back and I had to meet with another doctor.  The soonest appointment was another 3 months out and we would be starting completely over with a new doctor.  I felt so defeated, deflated, and discouraged.  I knew deep inside that God had a plan and that there was a reason for all of this, but it was so hard to see His hand at that time.

A week later I learned that our beloved geneticist had a serious health incident and that she would be in recovery for a long, long time.  Again, my heart broke.  I somehow felt relieved, however, that she didn't just choose to drop some of her patients and pass them along to other doctors.  She was so invested in Jayson, and it was reassuring to hear that she hadn't given up on him.  I also learned that our doctor specialized in metabolics, and not necessarily genetics in general.  The only reason we got matched up with her in the first place was because she was the doctor available at the time we were inpatient.  So, again I felt hope.  Maybe this was God's plan.  We needed a new doctor who and a new set of eyes who specialized in rare genetics like in Jayson's situation!

I posted in a support group online for encouragement.  Many of them had share doctors' names with me, and one name came up frequently-- Dr. V.  Well, I wasn't given Dr. V.  I did my own research on our doctor and convinced myself he could help.  A couple of days later, I received a surprising phone call.  The genetics scheduler called me back.  She said that she was so sad that I was in tears about cancelling the appointment that she sent the genetics team Jayson's file to review and see if they could get him in sooner.  Dr. V saw his file and wanted to take him on.  He created an opening for us.  Miracle??  Absolutely!  Answer to a prayer?  Undoubtedly!

So here we are.  Today is the day.  We are going to see Dr. V.  I feel prepared and relaxed.  I'm not anxious, which is so unlike me.  I have a good feeling that we are in the right place at the right time.  I hope we can come up with a testing plan for Jayson.  I'm praying that Dr. V might have answers or suspicions that no one else has had.   I'm hoping for yet another miracle.

These are the syndromes that I am going to bring to his attention, according to my research:

Noonan Syndrome

http://ghr.nlm.nih.gov/condition/noonan-syndrome
Cousins to Noonan Syndrome:  Castello Syndrome and Cardiofaciocutaneous Syndrome

Mowat-Wilson Syndrome

http://ghr.nlm.nih.gov/condition/mowat-wilson-syndrome

Alpha Thalassaemia- Mental Retardation, X-linked (ATRX)

http://ghr.nlm.nih.gov/condition/alpha-thalassemia-x-linked-intellectual-disability-syndrome

And some others that are less likely or could have already been tested for, but worth bringing up:

• Emanuel Syndrome
• Coffin-Lowry Syndrome
• Pierre Robin Syndrome
• Alexander Disease
• Joubert Syndrome
• Mosaic Variegated Aneuploidy Syndrome
• Angelman Syndrome