Friday, November 30, 2012

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,

We can learn a lot from their simple happiness


  1. Hi there! I came across your blog just doing a google search for Charge Syndrome and wanted to say hi! My daughter is 20 months and also has CHARGE. You are NOT alone! We have an extremely active facebook group ( as well as a group just for us newbies ( Many of our kids have trachs and gtubes. Some are on vents or O2. There is a huge range of time for developmental milestones. Every child has different struggles in different areas. My daughter, Evie has a trach and gtube, small coloboma in her left eye, mild to moderate hearing loss in her right ear and moderate to severe loss in her left, auditory neuropathy in her left ear, bilateral choanal atresia, low muscle tone, tracheal scarring, ear fluid issues, etc. etc.! And she is AWESOME! You can read more about her I'm so sorry you've felt so alone, but we are HERE!

    1. Ah, thank you for your reply. It always just takes a while for me to get through those initial feelings with new diagnoses... which seem to come more frequently than are welcome. We are still waiting for the definitive diagnosis. Thank you so much for your support, it's nice to know you're out there. :)

    2. I completely understand. At 20 months, we're still getting new diagnoses. Sometimes they seem minor because of everything else we've been through and sometimes they hit us hard. Even if you don't get a definitive diagnosis (many CHARGErs are probable cases), you're still welcome to join our community for support. We may not be able to understand *everything* about your experiences, but we can at least understand the challenges and joys of having a medically complex child. Praying for your family!