Wednesday, November 28, 2012

We have a Probable Diagnosis

Yesterday was our scheduled appointment with the geneticist , and in God's goodness, she received the results of the gene test the night before our appointment.  Apparently there was a mistake made that resulted in two whole-exome sequencing tests being done, one through a research study out of Houston and another through a private company.  When we were invited to participate in the Houston study (where the test would be done for free), the order for the private company was supposed to be cancelled.  Somehow however, it wasn't so the results we received yesterday were from the private company with only Dominic's results (not Mike and mine too).

There were 5 gene mutations that were found.  Honestly I was expecting many more, so was shocked at this small number.  Out of those 5, 3 were recessive, meaning Dominic carries the mutation but it is not expressed, therefore not causing any effects.  If he were to get married (hypothetically) to a woman who also carried those same recessive mutations, their offspring could be affected by that mutation, but the recessive gene itself in him, is not expressed.  1 of the mutations was significant for paraplegia but the geneticist said it was not significant.  The last mutation was significant for a disease called CHARGE syndrome.

This is where, in true Dominic fashion, things gets messy.  CHARGE syndrome is carried on a particular gene (CHD7 for my fellow nerds).  Dominic's CHARGE syndrome however is caused my a mutation of a different gene (SEMA3E). 

In typical CHARGE syndrome there is not presence of cerebral atrophy (brain shrinking), but our Dominic does have this symptom.  So these two facts, the different gene mutation and the presence of brain atrophy, make him unique and the geneticist said Houston will definitely want to publish his case study because it hasn't been seen before.  Yeah (taken in all sarcasm available).

This is a "probable" diagnosis, not a definitive one, so things may change when we get the results from the research study in Houston, but it seems to me the results would be the same.  The Houston study however will tell us if this is a new mutation in Dominic, that occurred spontaneously, or if it was passed down from Mike and I.  This will also tell us the risk of any future children we have being affected with this syndrome.  Normally, CHARGE syndrome is "de novo," or a new mutation in the individual, and siblings of the affected person have a 1-2% chance of also having the syndrome.  If it was passed on through Mike and I however, any future children would have a 50% chance of having the same syndrome, a 25% chance of being carriers, and a 25% chance of not be affected and not being carriers.

CHARGE syndrome has a large range of severity, from mildly affected individuals who live independently with college degrees to severely affected people who don't survive through their first year.  Dominic is severe, according to the geneticist.  Complicating his condition is the presence of progressive brain atrophy, which is not normally seen.  In the reading I have squeezed in since the appointment yesterday, the fact that he has survived through his first year, and has a stable airway and route for nutrition (g-button) gives me hope that his prognosis is fairly good.  I was unable to find any definitive life expectancies though, I'm assuming due to the very large range of severity that individuals with CHARGE are affected by.

Prior to yesterday, while researching deafblidness, I found out that CHARGE syndrome is the current main cause for deafblindness, at least in the US.  Prior to immunizations, rubella was, but now this fairly new (emerged in the 60's-70's in my hasty research) disease is.  CHARGE affects 1 in every 9-10,000 live births.

So, that's all I know for now.  Here is an excellent journal article that I have found very helpful if you are wanting to learn more about this syndrome:

As always, please remember Dominic and us in your prayers.  We glorify God for His goodness and pray that His holy will be done in the fullest extent possible in Dominic and our lives.

In Jesus and Mary,

CHARGE syndrome, SHMARGE syndrome...

The future matriarch of the family who's just like her momma.  Mary will care for Dominic when Mike and are too old, but this little girl here will handle his estate :)


  1. Love you all.


  2. Good to have some answers..take care. -Billy B

  3. You have such a handsome young man! My third daughter, Gretchen was born with CHARGE Syndrome and DiGeorge syndrome. At birth, she had a major heart defect (in addition to it's being enlarged), bilateral choanal atresia, and fluid filled lungs. There are other small physical traits, but those are the ones that were the most critical. She spent the majority of her first 18 months in and out of the hospital for various reasons. She spent a year and a half on a home vent and oxygen. We are getting ready to celebrate her third birthday. She is vent and oxygen free, and although her physical development is way behind, she is progressing.
    I want to make sure you are aware of personality traits that are common in individuals with CHARGE. They are stubborn, determined, and happy!
    Have you joined the CHARGE Syndrome facebook group? It is a wonderful place to share in all things CHARGE (and not). There are members who are adults with CHARGE also. Don't take anything for granted. Each CHARGEr is unique.