Monday, March 12, 2012

Endocrinology Visit for Summer

Today we went to endo for Summer.  I have good news and bad news.  Good news is the pituitary is intact and so many hormone issues will most likely not be.  This is fantastic.  Pending all her blood work for various things at the end of the week comes back clean, we will not have to be back till her teen years for follow up!  Also, while there we made an appointment for Alyona.  It is time for a follow up for her for many reasons.  Doc agreed and suggested the appointment.  Made it for April b/c frankly w/ two upcoming surgeries & a possible third surgery, there is just too much happening to throw another thing in the pot.  So April it is.

Now, the not so good.  While I was there, asked if I could have a copy of the neuro report.  She said gladly.  I read it & was upset and saddened at the same time.  Why did not one but TWO neuros tell us ONLY about her ACC (missing corpus callosum)?  There are some major, major other issues going on with her that we needed to be made aware of.  Shock is wearing off a bit.  My confidence in the appointment for Wednesday is now sliding a bit.  I made it as just a formality of sorts.  You know, get checked out by the ophthalmologist thinking there is NO chance whatsoever she could have ONH or SOD.  Now, with these results, I'm a little more guarded.  It is what it is.  Alyona has ONH and we all thought Nik had SOD.  Ruled it out over the years.  That's not what's bothering me at all. 

Neuros both told me to really watch for seizures.  I figured well, she doesn't have them now, why would she?  Apparently, it is very, very common for kids w/ colocephaly.  Let me step back and write some of the report. 

"Ventricles have typical morphology for agenesis of the corpus callosum with colpocephaly present.  Volume of white matter in both cerebral hemispheres, especially in the occipital and parietal regions, is quite low. 

Now, colpocephaly is what threw me.  You can read about what it is here  and here.  She too was dx'd w/ hydrocephalus at birth.  She is mentally challenged.  Now, doc today thought she had microcephaly and even measured her head.  Measurements weren't all that bad.  2 of my other daughters have microcephaly so when it was suggested Summer had that I was a little taken a back b/c I don't see it as much as I see it in my other girls.  Anyhow, that is also a symptom of the colpocephaly. I really am surprised by all this b/c I have not seen any signs of seizures.  Those are common in these kids.  I am very very grateful to not see any signs of those or muscle spasms.  And glad we know now to look out for it. 

The low white matter is also concerning as it corresponds to development.  There are some parents out there that have this in their kids and development is slow.  Speech is a real issue which we are really seeing here.  Thankfully, we have sign to help.  I have lots of hope b/c Summer IS walking, she IS feeding herself.  Though sometimes we do have to feed her.  We are learning new things everyday.  Anything we can do to help her, we will.  This is life long.  Apparently, it is listed as rare.  Yeh, okay.  I hear that word a lot in this house.  LOL.  I just see tons of progress in her in just even the last few months.  She fell out of the door yesterday but that was the first time in a long time that she'd fallen like that.  When she was first home, Summer would fall all the time.  This weekend, she actually beaded a necklace!  Just tons and tons of progress and growth I see.  We definitely will not be going by prognosis or things of that nature, but by who she is and what she can do.  But also, w/ having these dx's, we need to be aware of things to look out for as that is important to health.  Some of these kids wear orthopedic items to help w/ what becomes shrinkage of muscles.  Like I said though, so far, so good w/ her and praying it all continues forth this way. 

Like I said before, it is what it is.  It does not change who Summer is one bit and that is fantastic.  We do NOT ever go by 'what to expect' things that dx's tend to bring up.  They told us years ago Irina would never pass a second grade level.  Umm, yeh, we didn't listen.  BTW, she's at her job today.  Working.  Doing fine.  Gaining knowledge and skills.  My advice for others out there, always take dx's w/ a grain of salt. Don't harp on the dx's.  Ever.  Use them to figure certain things out but never rely on them for how your child will develop.  Only you & them can mold them into who they will be in the future.  We have great dreams for Summer.  Without a doubt, she will reach her fullest potential in life.  More later.  I am apparently the only parent in the world who didn't know it was early release today at school.  Oh well.  Have to pick Yana up from track soon.  Tomorrow is Irina's appointment to see if she'll need surgery.

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