Genetics + Endocrinology + Speech Pathology = Busy Week

It has been one of those weeks where you just have to call it "One of 'THOSE' weeks!" We were overbooked overly exhausted and so over waiting rooms.  Monday we met with Noah's Endocrinologist.  All good news...which is great!  So far Noah is growing like he should so no growth hormone problems yet.  His Thyroid and other blood related tests all came back normal :)  We are getting his cortisol testing scheduled for sometime in September and crossing all fingers and toes that the test comes back normal as well.  Then...in six months...we test them all again.  It is important for kids with Noah's diagnosis be tested for hormone deficiencies at least twice a year.

***funny side story.  During our hour long wait for the doctor Noah decided to have the biggest blow out of all time.  If I had a pair of scissors with me I would have just cut him out of his outfit it was that bad...and smelly.  I was so embarrassed.  It was everywhere and on everything.  I was quickly trying to clean him as he was quickly trying to spread it everywhere his little hands could reach.  Which of course was the wall, the medical table, his hair and face, my dress.  Thankfully I didn't mind the hour long wait because it pretty much took me that long to clean up the mess.  When the nurse came in I was so embarrassed cause she brought with her a plastic bag because she could tell from the smell down the hallway that it was needed in our room.  One for the books I tell ya.

The next day we had our very first visit with a Geneticist.  He was very friendly and so was his staff.  It was a few hours long and we had to go over all aspects of our family we could regarding diagnosis or cancers or anything else that stood out to us.  The doctor then went into great detail telling us that Noah is officially being labeled as SOD- Septo Optic Dysplasia which is either a diagnosis in itself or an umbrella term to describe many things that fall under the term SOD.  He said that out of ALL the families he has who have been diagnosed as SOD not a single one had another child with the same diagnosis.  Now, he also said that that doesn't mean it can't happen and he has heard of families with multiple children who have it but their SOD is just part of a greater syndrome or disease or diagnosis.  Do far all of Noah's symptoms fall just under the main diagnosis of SOD so this was good news for us.  He also is going to write an appeal to our insurance to see if we can't get the micro-array/snip test done on Noah to see if his DNA strands are fully intact or if one chromosome is missing a part (which would diagnose him with something different).  He said the chances of us finding anything are less than 5% but he has been humbled too many times to say they have never found something from this test with SOD patients.  For now it is a wait and see game to see if our insurance will cover it or not.  He also said that currently technology is evolving and he predicts that in just a mere five years there will tests available to us to do further exploration on Noah's genes.  He said that SOD patients for the most part never find a cause but many of them can rule out genetics being a major contributor.

***frustrating side story: upon leaving this really long appointment I was backing out of the overly crowded and really dark parking garage and backed right into someones bumper.  100% my fault.  While I was hastily looking for children and mommies with strollers I was not paying attention to the fact that I backed up one inch too far and scratched another vehicles bumper.  One sorry note, a few phone conversations with the vehicles owner, and $450.90 later I can put this behind me.  Thankfully, the owner was really understanding and we sat and chatted for awhile about our kids and all the hospital visits we have.  Of all places to scratch a car I guess a hospital might get you a more sympathetic owner. 

No...the week isn't over and neither were our appointments.  After Physical Therapy right after the car incident we were then scheduled to see a Speech Pathologist the following morning.  Noah has been having really runny diapers, a rash under his chin, and a month long refusal to eat.  It takes us literally an hour to feed him every time because he refuses to take the bottle.  Upon discussing all of this with the doctor she said that she feels like maybe might have a dairy intolerance.  If it hurts him to eat he will refuse to eat.  Makes sense to us.  So now he is on a soy based diet...two days in so far and things seem to be improving a little bit.  We will know more over the next couple of days but I hope that this is all there is to it.  She then scheduled us to see a Nutritionist in September as well to go over calories and Noah's specific BMI goals.  Yay...another doctor to add to his already long list of M.D.'s.

Beside all of the doctor stuff Noah has been cute as a button.  He has learned how to blow raspberries and is laughing out loud more and more every day.  He also made a clicking sound with his tongue this week and we hope that these two things might be good signs that he will one day speak.  We have 10 full glorious days doctor and therapy appointment free and we are going to soak it up like no other.

He has mastered the thumb these days

It takes a lot for him to get really comfortable but when he is he is out like a light

taking a break during tummy time