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Ben Sorby

A way to keep our family and friends up to date on Ben's medical journey for a diagnosis.

Latest journal entry

A Busy Fall So Far!

I figured it was time for an update, since we've had so many appointments this fall and if I don't update before we have another one, I'll forget everything!  UFFDAH, I'm exhausted.

At Ben's well child check up with his regular ped. at the end of July, it was recommended that he see an orthotist about his low muscle tone and possible need for braces.  Right after his last genetics appointment, in early August, to go over his genetic testing results, he had his appointment.  She looked him over very carefully and said that we should start with SMOs, which are basically a small brace/orthotic from the ankle down.  As she was looking him over, she asked if his spine had been checked recently, because she said it looked crooked.  His ped. had just said it looked fine, but it made me realize that Ben hadn't seen his spine specialist for his klippel-feil (fusion between two of his vertebrae) in almost 2 years!  Whoops!  I had cancelled the one year follow up last January and forgotten to reschedule it.  So, an appt was made to check on the klippel-feil and also check on his possible spine curvature.  

School started the following week and I had to pull him out of school on his very first day, after only an hour, so he could get fitted for his new SMOs.  We picked a green camo print with orange straps.  The whole process of how they fit them is pretty cool and Ben was super interested in what she was doing, but kept saying, "no hurt?"  Poor kiddo.  He's so used to pokes and needles at all his appts.  :-(  We picked them up 2 weeks later and he seems to be tolerating them well.  He only needs to wear them when he has shoes on, so he's still barefoot while in our house, which gives him a break from them.  I'm a little concerned that they are not fitting his ankles tight enough.  When he got them, they came with two straps, one over the toes and one over the lower part of the ankle.  The orthotist removed the top strap, so his foot would fit in his shoes better.  I have a call into him, because now it seems too loose.  I just want to make sure the SMOs are doing what they are supposed to.  We haven't noticed any difference in his walking, but it might take some time.  He'll go back in for a follow-up in January and they said we can always move him into an AFO (the taller braces) if these aren't doing their job.  We'll see!

After our last visit with Ben's geneticist, a bunch of follow-up appointments with various specialties were set up.  He had his echocardiogram and kidney ultrasound done in early September.  Ben did a great job and talked non-stop during both tests.  I couldn't understand most of what he said, but we all got a kick out of his spunky chit chat! :-)  And, just as we had expected, everything came back just fine with both tests.  

We met with the pharmacogeneticist a couple weeks later in Minneapolis to go over the results of the report that Ben got with his sequencing that explains his body's processing with different drugs.  This was a complete disaster of a day, so to be honest, I didn't get much out of the appt.  All 5 of us (Jack, Luke, Ben, Sam, and me) left the house at 6:30am to make the 9:15am appt.  It was raining out and Sam, being tired from sitting in the car for so long (and Sam just being Sam), was a mess before the appt. even started.  I went armed with snacks and toys and all he did was scream and throw them everywhere.  I think the actual length of the appt was MAYBE 10-15 mins.  What a waste of my day.  The dr. pretty much handed me the paperwork and sent me on my way.  Ugh.... The gist of it all is that we all metabolize drugs differently.  The test looked at several different genes and his body's response to it.  Basically, out of what they tested, Ben is a "normal metabolizer" on all, except one.  His CYP2C9 gene causes him to be an "intermediate metabolizer" to the drug Phenytoin, which is commonly used for seizures.  This perked up my ears, because even though he has never had a seizure, he is high risk.  The doctor explained that this is down the list quite a ways, so if he ever did start having seizures and needing medication, there would be many other drugs that they would try first.  This is not commonly used.  Being an "intermediate metabolizer" just means that he has an increased risk for side effects and the drug might not work for him.  From what I actually got out of the appt., it is very interesting stuff.

A week later, last Thursday, after a busy morning in OT, Ben had his (very late) follow up with his spine specialist.  We did x-rays first to check on his klippel-feil.  The doctor came in and said that Ben's spine looks fine.  He's not really seeing the fusion much anymore and since Ben's movement is fine, he didn't need to see him back for another 2 years or so.  As he was ready to wisk us out the door (another day when Sam was a MESS), I mentioned the curved spine.  He looked at him and said it was very hard to tell, since he has such thick, dark hair covering his back and the "swirl" at the top made it hard to see.  However, he showed me Ben's hips.  On one side it was flat and the other it was curved out.  He also noted that his shoulder blades stuck out more than normal, with one of them sticking out more than the other.  These are classic symptoms of scoliosis, so we were sent back for more x-rays to see if this really was the case.  We waited in the room for another 45 minutes.  Sam was DONE and so was Ben.  Sammy was screaming, Ben was thrashing all over the room and as I was just about to leave (I'd had enough waiting with those two), the dr. came back in.  He said that he wasn't definitively seeing scoliosis, but that Ben has one leg fairly longer than the other.  He pulled up the x-ray and I was actually amazed that I could see it as well as I could.  It's pretty obvious that he has one hip higher than the other and his spine IS curved, but most likely from the length difference in his legs.  I asked if this had anything to do with Ben's difficulty walking "normal" and he said no.  We were then referred to another dr, which we will see this week.  Ben's spine specialist said that at Ben's age, they will probably just give him a lift for his shoe (I think it's his left that is longer than his right???) and that as he gets older they might look into leg lengthening.  We will learn more on Thursday.  They were able to squeeze in an appt. with the orthopedic surgeon before Ben's meets with his neurologist in St. Paul.  So, we will have another super busy day.  We will drive the 1.5 hours to Mankato for Ben to have OT and then we'll drive the 1.5 hours to St. Paul for him to see the orthopedic surgeon (who is a limb specialist) and his neurologist, just to turn around and drive the 2.5 hours (in city traffic) home.  Whew!  Thank goodness I was able to find somewhere else for Sam to go.  It'll just be Jack, Luke, Ben, and me, which is much more tolerable!  I think the boys are going to need a treat when we get home.  :-)

On top of everything else we have going on, Ben has school too!  He was going M,W,F mornings, but it was agreed that he needed a bit more one on one time at school, so we've added Tuesday mornings as well.  He is with his class on M,W, and F mornings and getting his speech, OT, and developmental PE during those times, and then Tuesdays are center based time and he gets one on one with Miss Jenn (his FAV)!  He was also doing outside speech Tuesdays (right after school) and Wednesday afternoons, but we recently found out our insurance won't cover any of our visits after the end of June and we have a hefty bill wracked up.  We have currently paused speech while we scramble to figure out what to do.  During all of this, Justin checked on OT and it looks like our insurance might not be covering those appts as well, so the frustration of figuring out how to get your child the services they desperately need, while figuring out how to afford and pay for it has begun. :-(

All in all, this busyness is making us all crazy!  All of us, except Ben.  He is actually doing really well.  I was starting to feel so bad that I am constantly rushing him from school, to therapy, to doctors appts. and back again.  He doesn't get to just run and play like a typical kid his age.  However, I noticed he does better when we keep him busy.  He CANNOT have down time or he has meltdowns, with crying, thrashing, hitting, and scratching.  We found this out, because he does pretty well during the weeks now, but the weekends are extremely tough.  His schedule changes and that's just not good for him.  So, I will keep him busy.  He's also adding religion classes at the end of the month and without me mentioning it to him, it's like he already knows it's coming. "Sing whole world, mom?"  ........he's got the whole world in his hands...... That's his favorite song!

I'll update again after his appointments on Thursday.  He'll also be meeting with his endocrinologist in early November, his geneticist in early December, and his orthotist in early January and of course any other new appointments that get added in!

Please pray for my sanity as I try to maneuver being a single homeschooling mom (if harvest ever gets started here!) and all these doctor appointments, therapy visits, school, and everything else life has decided to throw at me this fall. :-)

Sara

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