The State of Grace

Grace had a check-up with her wonderful neurologist, Dr. Fabulous.  We went over all the basic lab work done to see if any of the primary mitochondrial disorders were present.  None were.  This is good news.  Mitochondrial disorders usually cause a shorter life span.  The addition of the Topamax at 100 mg a day has almost completely knocked out Grace’s migraines.  Gone are the seven to ten days killer headaches that completely debilitated her.  Success! The swallowing problem is still an issue as is the hypotonia.  She still walks like Shaggy from “Scooby-Doo” when she’s tired, and she can’t swallow food or speak clearly on some days.  I know that this is the hypotonia in action, but I don’t know why she’s hypotonic outside of a possible EDS diagnosis.

So, I had a moment of brilliance sitting with Dr. Fabulous.  Grace struggles with constipation.  I shouldn’t say it like it’s an occasional thing.  It’s more like a lifestyle if constipation can be a lifestyle.  When she was little she would lie in bed and weep while pulling up her knees.  I would try everything I could think of to ease her pain, but nothing worked.  Finally, I took her to our family pediatrician fearing the worst whatever “the worst” might be.  Her torso was X-rayed, and, as it turned out, she was completely backed up from stem to stern.  Our pediatrician scratched her head in amazement.  How does such a small child achieve such incredible blockage? I recall her asking me if Grace ever used the bathroom? I shrugged.  She was four.  I didn’t exactly check the toilet anymore.  How exactly were we to solve the problem? Grace’s doctor prescribed repeated daily Fleet’s enemas and Miralax.  Aaaaaw yeah….what kid, or adult for that matter, doesn’t love the word “enema”? My skin crawled.  I have many a childhood experience with the dreaded e-word being an undiagnosed Celiac until my mid-30s.  The thought of putting Grace through repeated enemas made me feel ill, but the thought of Grace never pooping again made me feel just as ill.

We went home and hit the bathroom.  Grace was brave.  I was brave.  We did everything the doctor ordered.  The kid never pooped.  Not once.  I think I gave her an entire container of Miralax and ten enemas to no avail.  Suddenly, the light went on.  If I have Celiac Disease, then perhaps Grace might as well or, at least, non-Celiac gluten intolerance? So, I took her off gluten.   In a few weeks, she had achieved regularity.  It was rather astonishing.

So, here we are today, and Grace is back to complaining about that mystery pain in her abdomen.  It’s not all the time as it was in her pre-school days, but it seems to strike at night as it once had.  I ask her if she’s going to the bathroom, and she can’t recall.  Hmmm.  She indicates that it might be difficult.  Of course, she’s on all this medication.  That might have something to do with it.

So, where was my stroke of genius? I asked Dr. Fabulous if Grace’s observed hypotonia could be internal as well.  Could Grace be experiencing a hypotonic bowel? Dr. Fabulous looked at me and said, “My gosh! Yes, she absolutely could be! It’s smooth muscle, but in every child I’ve ever worked with who has hypotonia, they’ve always had hypotonic gut issues.  Great connection.”  I think I preened on the inside a bit.  We’ve been trying to figure out the cause of Grace’s bowel issues for ages, and no one has been able to give us a decent answer! The solution? There isn’t one.  You can’t fix a hypotonic bowel.  We had already changed her diet which would have been suggestion #1.  Now, we need to add Miralax to her daily regimen.  Miralax isn’t a laxative.  It draws water into the bowel to promote stool softening so that people can “go”.

Why talk about all this? Well, children with neuropsychiatric disorders like schizophrenia spectrum disorders and even bipolar spectrum disorders–particularly of the early onset variety–will often have other health issues.  The 22q11 deletion is not uncommon to children with early-onset schizophrenia.  With genetic deletions come other health problems like muscle and gut problems.  I watched Dr. Fabulous pace the office when we were talking about the lab work and Grace’s several health issues.  She was chewing her lip.  I think that she believes something else is at play on a more foundational level, but she doesn’t know what it is yet.  So, she is ordering another neuropsychological work-up to see where Grace’s functioning is at now.  It’s been two years since she’s had one.

If you have a child with bipolar disorder or any kind of schizophrenia spectrum disorder, make sure that you get a neuropsych done.  That is one of the best things that you can possibly do for your child.  The wait is often long for a good neuropsychologist, but you will want the data from the testing to see exactly where your child’s strengths and deficits are.  Because white matter is lost over time in schizophrenia (and the experts are still wrestling with the exact nature of schizoaffective disorder in children), it’s absolutely necessary to get neuropsychological testing done every few years in order to see if your child has lost ground or maintained it.  Two years ago, Grace was in the prodromal phase of her illness, and her working memory was at 3%.  Grace has experienced a decline in her functioning in the last two years so another run of testing will determine where her decline has manifested, and this will let her team know where to focus their efforts.  It is for this reason that I believe it is a very wise decision to have a neurologist on your team particularly if your child has migraines.  Finding a worthy pediatric neurologist, however, is something of a herculean effort as you can read on this blog.  When we did, however, I swear, the angels sang.

So, it looks like we’ve got more testing in our future,and Grace will be drinking Miralax daily.  But, she no longer has the crippling migraines.  I’m also adjusting her diet and observing if there are improvements.  We shall see…


4 thoughts on “The State of Grace

  1. You are a marvelous mom — an example of patient tenacity given a difficult situation. I learn from you every time I read your experience with Grace. Thank you for being so open!

    • Thank you so much for still reading, Fern, and for saying such nice things. This is turning out to be an epic journey and some days feel like they won’t end. I was up at 5 am today because my cat has OCD…It’s gonna be an interesting day. I hope you’re well! Truly…

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