The other 1/2 of the previous post...

Yesterday a dear friend called and lamented: "I read your blog and was like enough with the technical stuff already, how are you guys feeling about this!"  So, dear friend, this blog is for you, and for anyone else frustrated by my last post.

In my last post, I hid behind my extremely limited knowledge of genetics and allowed myself to nerd-out a bit and give you the cut and dry of information.  Since the diagnosis I've had many people ask me if I'm relieved, if we're happy with this diagnosis, how we feel.  And every time I just sit there quiet, not knowing what to say.

It's as if someone told us the winter will be cold.  It's a fact, and not a fact that can be changed.  We know we will have to get our coats out, and maybe we'll buy some fire wood for extra warmth.  We know our plants will die and we'll have to save money to buy new plants in the spring.  But all the preparation will not change the fact it will be cold.  It is what it is.

That's how we feel about this diagnosis.  It doesn't tell us anything new.  It doesn't give us any hope to slow his progression.  It doesn't even give us a good prognosis or life expectancy because it is such a newly described syndrome (in the last 50 years) there doesn't seem to be much data on long term prognosis for the varying severities.  It does however suck, for the above stated reasons.  We have this useless diagnosis that is further complicated by his brain atrophy, so that even if there were reliable data for prognosis, it wouldn't apply to us anyway.

It does however give us a "group" to belong to, but even this has proven to be anti-climatic.  In looking up the various CHARGE foundations, I see pictures of older kids or even teenagers all standing up, walking around, participating in school and activities trach-free.  These are the mildly affected kids.  That brings me to wonder, where are all the severely affected kids?  The only logical conclusion: they did not survive, thus are not pictured.  Where are all the babies with the trachs and g-buttons?  The average age for independent holding up of the head for this syndrome is 5 months.  Dominic just did this at 16 months.  For standing independently is 13 months.  Dominic is far off from this.  So, while we have a name, and a group, it seems a bit pointless really because we don't fit anyway.

However grim the above may sound however, we are not discouraged.  Well, I was for about a day and a half, but God fixed that right up.  As Mike told me "we're not in charge, God is, and we'll praise Him and thank Him for whatever He does, whatever His will is in all this."  Amen.  Remembering this world is a temporary place, a short stop on the way to eternity is such a sweet consolation.  And in His goodness, His faithfulness, the day after the diagnosis I got a call.  A nurse practitioner from the palliative care team (who follows Dominic) called to ask us to talk with this family who has a new baby in the ICU, who are contemplating a trach and who is very similar to Dominic.  After happily agreeing I told her Dominic had been diagnosed with CHARGE the day before.  She got quiet and said 'I know, I just saw that.  It's the weirdest thing, during our consultation with this baby, everyone on the team was thinking of you guys independent from one another and only later discovered we all thought at the same time of connecting this family with yours.  As it turns out, this baby was just diagnosed with CHARGE syndrome too.  How strange."  To which I gave a hearty mental laugh and thought "what a great sense of humor you have, Lord, thank you for your faithfulness!"

In Them,
Chasity

We can learn a lot from their simple happiness

 

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:  http://www.ncbi.nlm.nih.gov/books/NBK1117/.

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,
Chasity

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 :)



Dominic's Super-Hero

What kid doesn't want to be a super-hero?  Or better yet, have a dad who is a real life super-hero?  My kids hit the dad jack-pot with Mike.  He is fun, gentle but stern, can just as easily read to them, pray with them, or wrestle with them.  He is the world's best double-bouncer on the trampoline and can build a fort like no-bodies business.  He roasts perfect marshmallows, teaches firearms in our home school (with BB guns:), and is the king of scrambled eggs.  He changes trachs, changes diapers,and kisses boo-boo's, all before breakfast!  He is a super-husband, and a super-dad, and the kids got to see first hand his awesomeness at this year's state-wideTexas SWAT competition. 



 

Getting ready for the shooting to begin, Mary is plugging her ears 

 

 Dominic, being the white boy that he is, is NOT fond of the sun.  Really, it's because he doesn't see much but can see light, so the brightness of the sun is like torture to him.  I raised the shade just to get a picture, don't worry, he wasn't so miserable all day :)

 

 Sniper course

 

 I love this... little Mary admirring her big, tough Daddy

 

 Lucky for all the SWAT officers, I brought along Batman and Superman, just incase there was a "situation."

 

 Cool Dom, chillin in his shades

 

 So proud to have a Daddy like this!

 

 Mike just after an event.  Phew... he sure is cute :)

 

 Extra water for little man... boy was it hot out there!

 

The team obstacle course event... awesome.

 

 If you look at the bottom of this picture, you can see the top of someones hat, gives you an idea of how tall this obstacle is.

Mary, giving her Daddy some love

 

The tacticle family (well, at least Mike)... especially Officer Jacob there (see the helment, on backwards and all :).

A Day in the Life

As the old saying goes, "no news is good news."  I'll let that explain why Dominic's faithful admirers have not had any sort of Dominic-fix lately.  Sorry about that :/.  In our world though, boring is good, and thank God, things have been good.  Dominic has increased doses of his seizure and thyroid medicine as well as his dopamine but all in all, he is doing much better than I expected he would at this age.  He is progressing in motor skills (despite the fact his brain degeneration is progressive- something the doc's can't explain) and is sitting up with little support and can hold his own head up for longer and longer stretches.  He's also alot more alert and interacts with us more (in spurts).  Just today he was playing a take-turn game of sticking his tounge out and clicking it after I did... this is HUGE!!  I was so excited, I could have died!  But best of all, he's cuter than ever.

We're still waiting on his gene tests to get back (remember the whole exome sequencing that sequences all 22,000 genes... +/-, who knows?!?!).  It has been quite a while so we are expecting that back pretty soon.  Be assured, you'll be the first to know what the tests says.

We're home schooling the oldest three kidd-o's and it's working out perfect for our family.  It gives us the flexibility we need with Dominic and it has been SO fun being with them as they learn and explore new things.  Fun, but yes, crazy sometimes.  This would be another reason I have neglected the blog, and through that, you faithful readers.  I'll try harder... I promise this time!

Here's a typical day in the life of our little saint:

Tuesday through Friday he has at least two therapies a day.  He gets PT, OT, ST (two different therapists, one for feeding and one for communication), VI (visual impairment teacher), O&M (orientation and mobility teacher), and soon AI (auditory impairment teacher).  That's 9 visist a week.  Thanks goodness for home therapy!

 Between therapies he's entertained by the REAL Power Rangers!

After his sessions, he crashes for a good long nap.  His therapists are relentless... just the way I like it!  :)

 

 He gets a good bath, a massage, and trach or tie change, depending on the day.  He LOVES his baths!

...And more therapy from his siblings... "Roll, Dom, roll!"

 He protests, but to no avail...

And on a good day, he gets some lovin' from his Mi Mi

 

 Ever-faithful, Mary is Dominic's little mamma.  She is constantly hugging, kissing, cuddling, trying to carry, lying on top of (scary) him.  She'll be the one that takes over when Mike and I are too old, I just know it! :)

So there you are good, faithful Dom-lovers.  I promise not to stay away for so long next time.  We still need your prayers, as his condition is progressive, and especially prayers for his healing, if it is God's will.  Most of all though, we only want God to be glorified through his little life, whatever that may mean.

In Jesus and Mary,
Chasity.