Life with Fragile X Syndrome

This is a supplement that was tested in boys with FX with symptoms of ADHD.  There is some info on it here and here.  Both of the Drs. we saw at Children’s were in favor of trying this before trying any sort of stimulant medication.  They prefer the l-acetyl carnitine vs. l-carnitine which is more widely available.

When you search you’ll see that this is widely used by body builders and the doses they use are higher than were tested.  I found a liquid format by MRM (Amazon and Seacoast Vitamins both carry it) that will be easier to give to Monkey since he doesn’t do pills and it will be easier to cut the dosage.

A quick update on the phrase du jour…Monkey seems to be tiring of it!  I’m glad because this means we won’t have an entire pre-school classroom saying “Oh, crap!” but it’s also a little sad because, as bad as it sounds, I think it’s freaking cute.  He will still say it once in a while but he doesn’t just wander the house saying “Oh, crap!”

Taking Monkey to the Fragile X Clinic is like being part of an entourage.  From the moment we step off the elevator he is greeted by e.v.e.r.y.o.n.e.  Duhdee and I are just background.  Word of his arrival flies through the clinic and people we are not even scheduled to see make a point to track him down to fawn over him.  He now greets every one of his fans with a shy smile, a wave and a “Hewwo.”  

This sort of attention used to be very hard for him but he’s beginning to accept it as his due.  The one person at his most recent visit earlier this month who did not take time to greet him (a very busy receptionist) soon found himself confronted by Monkey while Monkey waved in his face.  Hopefully whoever he was talking to on the phone didn’t mind the ever increasing volume of Monkey’s greetings as the receptionist continued to ignore him.  No worries, we did rescue the guy but it took us a bit to get across the waiting room to remove the little pest!

So, what did we learn this year?  One, Monkey is doing amazingly well.  Other than the actual physical exams he enjoyed himself.  He was making great eye contact with the Dr’s and the staff.  When he did get upset he recovered very quickly.  Everyone commented on how much more mature he is and how well he maintains his composure.  There was a time when he would only tolerate being in the exam room (not even being examined) with a great deal of comforting and deep pressure from Duhdee.  Now he wanders around the room, explores the toys, the medical equipment and even tries to take over the Dr’s computers…even when somone is sitting there.

Second, Dr. Picker and Dr. Hagerman are sort of opposite ends of the spectrum on medication.  Dr. Picker really wants us to try the l-acetyl carnitine and some modifications in our routines to address the attention issues and the sleep issues before we talk medication.  We are going to re-evaluate in 4-6 months and decide then if we want to add clonidine or some other stimulant.

Third, Dr. Picker is noticing that about 1/3 of the patients who try minocycline see improvement.  He really wants to see some hard data before he begins prescribing it regularly as most of the current information is anecdotal.  He’s also reluctant to do so with Monkey given his age.  He did comment that anything that works to change the pathways in our brains can do so in a beneficial manner but that it can also do just the opposite.  I appreciate his caution, hopefully the extra supplements and improving the quality of his sleep will help alleviate the attention difficulties.

Four, did you see that comment above about improving the “quality” of his sleep?  Bugger!  I was really hoping for an increased QUANTITY, lol.  The developmental pediatrician we saw did say that if he does in fact have ADHD then it would not be unusual for him to require less sleep than normal.  Right now Monkey is getting a decent amount of sleep but it’s all broken up which means he is never well rested.  He gave us a few ideas to try in order to compress his sleep into one block.  One of those ideas is that we need to push his bedtime BACK so he is going to bed every night at the time he normally falls asleep (he usually goes to bed and spends 30+ minutes putzing around before he nods off.) so bedtime is now 30 minutes later.  Yay for Monkey…ummm….*sob* for Umma and Duhdee?  After 14 hours of CONSTANT movement and activity we really, really need bedtime to come sooner, not later.  *Sigh*  We are giving it a shot for a few weeks.  Clearly what we have been doing is not working so well.  We are in a period of 6+ wake-ups each night.  The other sleep related change is that the melatonin is back.  We’re keeping a sleep log to see how the changes affect his patterns…so far, not great.  I’m not sure 4-6 months is going to work for us in this area!

Zzzzz.

Over the weekend, while Duhdee and I were at the conference, Monkey stayed with my Mom & sister.  He had a great time right up until he saw our truck pull up to the house and then he started getting upset.  All the stress and worry came out when he saw us, poor kid!

Anywho, my mom told me that on Saturday afternoon she was restarting his favorite Winnie-The-Pooh DVD and Monkey was getting impatient.  He was sitting next to her on the couch bouncing a bit and then burst out with “Gammy! Gammy! Gammy! Pooh!”   Hee!  “Gammy” was very pleased to hear that first!

Yesterday afternoon, Monkey lost his very first tooth.  We’re not sure when it even happened. We didn’t even know any of his teeth were loose, so I guess it didn’t bother him very much!

Duhdee and Monkey were outside when Duhdee noticed it.  He fuh-reaked out when he realized Monkey was missing a tooth…he didn’t realize kids started losing them at this age so he was thinking it had been knocked out, lol.  Fortunately, Dentist Google cleared it up for him just before he called Monkey’s teacher asking for an explanation 🙂

Monkey is not the least bit interested in showing off his gap.  The tooth right next to it is really loose…like fold over and make Umma GAG loose, gah!  I think we’ll be having a repeat visit from the Tooth Fairy very soon.

Speaking of the Tooth Fairy…she left Monkey a dollar.  Is that the going rate for baby teeth?  I was sort of thinking a gift card from Toys R Us but I’ve been known to overdo things once in a while.  Duhdee thought that was nuts, lol.  She did only get a note, not a tooth, so maybe she wasn’t too pleased with that situation.

Monkey didn’t seem at all interested in the whole Tooth Fairy thing last night but he signed the note and watched us put it under his pillow.  He then proceeded to wake up eighty bazillion times during the night.  Awesome.  This AM he brought his dollar to me to show me and gave it a hug…that made up for the total and utter lack of sleep.  Sort of.

One down, how many left to go now??

Monkey lost his first tooth today.  Bottom center, the other is loose too.  My baby is growing up *SOB*

you would hear…

Monkey drops a toy, “Crap!” 

Monkey watches YouTube videos, “Craaaaap, craaaaaap, crap.”

Monkey sees Duhdee with his drill, “Crap!  Crap! Crap! Pwease?”

Monkey and Duhdee drive Umma to the train station.  “Craaaaap! Praaap!  Crap!” 

*Sigh*  He’ll get tired of the word eventually, right?  It’s really hard to ignore.  Duhdee tried to redirect him to “crab” and Monkey demonstrated that he can say “crab” perfectly…then returned to his favorite word.  It makes me a little sad for the days when all we heard was “home? home?  HOME!”

My oldest baby, Copper, is really sick with Lyme Disease.  It came on suddenly early Friday…really early, like 2 AM early…and he’s not doing so well.  Tons of pain, even with pain medication…to the point that he can’t stand up on his own and has trouble keeping on his feet once we help him up.  All of his systems are a little bit off so we are having to walk a fine line between pain management and doing permanent, possibly fatal, damage to his kidneys and/or stomach.

Poor bubba.  Poor Umma.  Rich (but very experienced and compassionate) vet, heh.