What's in a name?

Today, I had the pleasure of meeting a Genetics Specialists based out of Atlanta.  She is highly sought after by many in different states for answers to the rare and unusual disorders and syndromes.  I was highly impressed with the amount of detail, attention and time that she took with Thomas and me.  We started out with her asking a few questions to clarify the doctor's notes she had received and the questionnaire I had completed.  She had already done some research had an idea of what syndrome explains Thomas' issues.  She immediately said that while she has an idea she doesn't want to spend the hour together explaining the syndrome and what it means until we had more conclusive information confirming the syndrome.  She has found in past experience that spending the hour explaining the syndrome and detail and then finding out it was a misdiagnosis ends in a wasted hour and a parent spending time anxious about something their child doesn't even have.  So instead, she mentioned the syndrome and then we moved forward with what tests we will be doing to get more conclusive results.

First off, there is no test for such syndrome.  You basically look at the possible symptoms listed for that syndrome and then see how perfectly your child fits into it.  If there is one issue that doesn't fit then it is better to keep looking rather than sticking that label to the child.  Its hard to have a label removed once it has been diagnosed.  We will be moving forward with genetic testing.  Simply explained, they will take a sample of his blood to divide his cell up and look at a map of his chromosomes.  From this they can determine if there are any missing or any duplicates.  This can provide us some direction as to what was missing or altered during development, however, it is no definitive.  For example, we can learn that he is missing number 5 but there is no conclusive research as to what number 5 is linked too.  We can rule some things out and we can define some things, but the hope is it will help make a better picture of where we are and help define his syndrome.

She also agreed with the other steps that I have already initiated in his medical testing, such as the MRI on his brain.    This is something she was going to recommend herself.  Again, this is a test that could show us nothing or possibly show us something.  It could show us some physical elements that did not complete during development and therefore defining some of his issues.  But it could also show us that physically everything in his brain developed properly and has connected as it should.  I know for a fact that Duane Syndrome is caused by the absence of cranial nerve VI, but I don't know if that will show up on the MRI.  If anyone does know, please share that information with me.  She also agrees that based on his last hearing test it may be to our benefit to push for another hearing test and keep a close eye on his levels of hearing.  I will make those phone calls tomorrow.  We also have a speech evaluation in correlation with his possible speech delay coming up on December 8th.

There was one new discovery today!! Can't have an appointment without someone finding something new that is abnormal with Baby Thomas.  She noted that his toes curl.  It was not a reflex to her touching his feet or anything of that sort.  But just as she held them in her hand they had a nice curl to them.  She said it was nothing to be alarmed about or contributed to his falling, but that it was a characteristic that just needed to be noted as part of his package.

One of the best parts about today's appointment is the explanation of the 'package'.  I really liked her terminology here and will probably continue to use it as such.  We discussed his hypotonia and how this would fit into the symptoms as this is not listed in any of the possible syndromes.  She explained that most children with syndromes have certain characteristics that come with the package.  One of those is the existence of hypotonia or low tone.  That was comforting to know that there may be no further developmental issues neurologically but that it is more or less a common part of the package.  As a mother, it is hard not to fear that one of the symptoms will lead to a bigger issue that will cause more challenges.  She also explained that being small is another characteristic that is part of the package.  She said to ignore the chart and make his own growth chart.  As long as he is consistently growing and doing well on his own line then we have no reason for concern.  Typically children who have these classifications of syndromes are just little.  He is not to be compared to other children without syndromes and not even compared to his brothers.  This was also comforting news to me so that I know what to look for and to accept that my little man will just stay little.

The second great part about today's appointment is that she explained to me that having a syndrome such as this means that he will not progressively get worse.  He was born with these issues and they are what they are.  A syndrome is a group of symptoms that collectively indicate or characterize a disease, psychological disorder or abnormal condition.   Thomas falls in the abnormal condition category.  I had never heard this before and as a mother it wonderful to hear that once we have defined all of his anomalies they will not change or become worse over time in and of themselves.  Don't get me wrong though, I am not naive and realize that some of his current issues may alter, such as his spine or eyes, that may prove to make more challenges above and beyond his current challenges.   But I still find comfort in knowing that once we can confidently and comfortably identify his syndrome, it will be something that we can use as our road map for his health care and therapies for now and in the future.

Baby steps are still steps taken.  I feel like we are on the right path and feel better learning more about the package of Thomas.   I definitely think we will have a diagnosis in the next couple of months.  Will this change anything?  In the right now moment, probably not.  But it will be something that will be used in the medical world to explain his package and his challenges.  It will be beneficial in trying to get financial help and getting him special considerations when necessary.  Today was long and a lot of information was provided, but I think it was definitely a good step for Thomas.

Thank you for your continued prayers and support.  They are truly are appreciated and felt.  The past couple of months have taken there toll on me and I feel myself struggling with all the extra stress and emotions that arise daily.  Please don't mistake me, I do not struggle with my faith as I know God has this all in his hands. God has sent Thomas as this beautiful and magical package that reaches far beyond our family and grows with each person he meets or reads his story.  I feel this season of our journey is one of the hardest parts because its still new, fresh and unknown.  The more we know the better prepared I can be to continue to be his best advocate until he is old enough to be his own.  "And this strange season of pain will pass, when the healing hands of autumn cool me down" ~ Indigo Girls

Philippians 4:13-- "I can do all things through him who strengthens me."