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A Long Overdue Update

Sep 01, 2011 - 2 comments

I just got done reading some of your updates and I wish I'd been on more often but hey we just replaced the laptop last week and it's been in high demand!!!

So Whitney is doing rather well I'd say.  She is back in school - Yay!  She's made it about 3 full days and 2 half days per week.  She is exhausted and hurting like heck when she comes home (has the pain, etc all day and worse at night)...She did dance once a week during the summer and she's wanting to do some more starting next week.  We'll see how it goes.  All in all her attitude and coping skills has improved like a hundred fold.  She's out of that helplessness phase, thank goodness.  That doesn't mean she doesn't still have real lows and even pain to the point of needing a wheelchair but man what a difference.  Sometimes she has such a "good" streak that we forget how sick she is and when she crashes that slams us back to reality.

So where are we on the medical front...her neuromuscular doc called out of the blue last week to check on her. He's been talking to his colleagues about her case and he is very pleased with her attitude (that pain isn't going to run her life anymore).  He's always believed her but seeing through the depression she was battling when he first met her confused matters (his words).  They believe (as we have) that this is probably all caused from the bout of mono this all started with.  It somehow got into her nervous system, etc and wreaked and is wreaking havoc.  He thinks this is an autoimmune autonomic neuronopathy (I think that is what he said but I could be wrong there might have been a para in there but I was holding the grandson and couldn't write anything down).  He'd like to do another skin biopsy and also start her on weekend courses of steroids.  He told me to discuss it with Whitney.  Whitney wants nothig to do with another skin biopsy but will try the steriods.  So we are waiting for him to call back on that.   I told him though that I wish I had something - anything that could take her pain down a notch when it gets really bad.  He said we could try something that she's used in the past but I couldn't think of anything that worked. As I type this I am remembering that Tizanidine (a muscle relaxer) helped in the hospital by letting her sleep when the pain was bad.  I may ask for some of that for the really bad nights.

She's also still having digestive issues. Not surprising for a dysautonomia kid right? The GI just wants her on fiber supplements.  Fiber choice but Whitney hates she is taking metamucial capsules. This lady doesn't get dys but Whitney is not up for more tests either....or new doctors.

She's still having "blank" moments that are getting worse - she gets blurry vision, dizzy, can't really hear whats going on around her, and her head hurts. These happen up to 5 times a day. She's getting mini-migraines (which is what she describes as getting an aura (for her a feeling of de-ja-vu) everyday, several times.  Monday she got the full blown migraine and had to come home in the afternoon and sleep.  

I still need to get her in to an ENT to check her tonsils and adenoids per the results of the sleep study...

SO for other news...
Baby Brayden was born on July 28th a whopping 10lbs 4.5oz, 21"long.  He is now about 12lbs if I had to guess.  He was 11.4 lbs two weeks ago.  Momma and baby are doing great!  Chrissy goes back to school next week.  

Hope everyone is doing ok.


Jul 27, 2011 - 3 comments

I haven't updated this journal in a while because our computer died...I have my work computer at home now and I am sneeking some time for some personal catch up at 6am!  

Whitney has had a pretty good summer overall.  She's been going to her babysitters house everyday she can so she can play with her friend (babysitters daughter that is just a little younger than Whitney) and they have a pool so she swims - great PT.  She's been taking a hip hop & lyrical dance class once a week too.  She still has all the pain and some days are worse than others but she's coping really well and generally not letting it stop her.  

These past two weeks of intense heat have made life more difficult for her though. Her evening and early morning pain have brought her to tears a few times.  I hate that we have NOTHING to give her during these times to relieve the pain.  She says she is having an average of 5 blank moments a day as well.  

We got the results of the genetic testing - the chromosomal array - and it was normal.  BUT really not an indicator of anything. I am not sure why that one was even done. I thought they were doing the specific mutation testing but they opted for the cheaper generic array that really only shows major mutations at the chromosome level not particularly at the gene level or smaller.  So now we wait for more authorization for the specific testing.

We also got the results of the sleep study.  She has signs of obstructive apnea - meaning she woke up slightly 8 x an hour because of breathing obstruction. So for this we get to make an appointment with and ENT to check her tonsils and adenoids.  Her brain also woke up 20x an hour. No reason given...She had periodic limb movement - we've seen her jerking like this for a while. They said it could be due to iron deficiecny which coincidently we had checked the week or two before I got the results and she was anemic (like Chrissy & I are too).  So she is on iron.  (have you ever taken iron - the results are gross)...and now we get to make another appointment with the epileptologist.

Whitney is excited about returning to school this fall. She is going back to St. Pats instead of the public school. I already worked out a part time schedule to start, just to get her integrated back into the swing of things and to see if her little body can handle it.  No PE though. That would just cause the day to go down hill. We've discovered that even though she wants to run and can physically do it - it causes immense pain, burning, and swelling.  She puts up with it in dance but during the school day it would just ruin her concentration. Because after dance she will come home and show me her new "moves" but then she crashes for the evening and only wants to do light activities like reading or more exercise.

Hope everyone is doing well and enjoying the summer!

Oh Chrissy has not had her baby. She is 9 days overdue and they are inducing her tomorrow morning unless she decides to have him today!  


Erythromelalgia and SCN9A Mutation

Oct 14, 2010 - 4 comments

Whitney had her brain MRI and VEEG this week. The MRI was normal and the VEEG was not.  She is definitely having seizure activity.  The neurologists in the hospital were very attentive and supportive.  One resident took interest and I think must have spent hours researching Whitney's symptoms and   some of the early VEEG results. (I am glad we got in to the early appointment rather than the later one we were scheduled for - this gave the docs lots of time to look over things).  She spent a quite a bit of time with us on Tuesday, asking questions, getting history, examining Whitney, etc.  Before she left she asked if I had any questions and I said yes..."what does she have and how are you going to fix it?"  She didn't laugh, she said she would be working on Whitney's records and researching it. (She also promised Whitney she would bring her cookies in the morning).  So when she came back in the morning, she not only delivered on her promise of cookies, she also brought ice cream AND a diagnosis! (one she hadn't confirmed with the attending but she was pretty confident).  She thinks Whitney has a mutation on the SCN9A gene which can cause siezures and pain. The pain syndrome is called Erythromelalgia. The attending neurologist agreed, and during rounds with the resident and med students, he explained it all to me and made sure I was on board before he made any changes to her meds or treatments.

I have a lot of reading to do to!  She sees a geneticist in November. They are weaning her off Lyrica and starting her on Cymbalta.  I told the attending that she has an appointment with Dr. Jones at SLCH pain management clinic. He said that was GREAT. He wants all the best doctors in the midwest on Whitney's case. He wants a team to manage her - the hard part is coordinating them all togehter since they are in different hospital systems.  So the rheumatologist, neurologist, and geneticist will be at Cardinal Glennon and PM and psychology at SLCH. Who knows who else will jump aboard.  He also told Whitney if this is truly what she has she is going to be in the medical journals someday. (LOL - is that a good thing?  I guess so - now that some test showed something is off, the doctors are finally interested enough...). Oh the Lyrica could be causing or contributing to the seizure activity as well.  As soon as it's cleared from her body we will know for sure. But epilepsy runs in our family so who knows maybe several of us have the SCN9A mutation. Maybe my mom's fibromyalgia is actually's all treated the same I think...

Neuropathic Pain Syndrome

Sep 27, 2010 - 9 comments

Well the latest word from Whitney's neurologist is she thinks its neuropathic pain syndrome and then she started down the psychological route again....told her we'd been there done that, she has a psychologist (and we've already discussed this with them (nuerology))...goodness...whatever....anyway they were wishy-washy between the resident and the attending...did refer us to a pain clinic at SLUCare but I can't find anything about them working with kids.  

Anyway I think another term for NPS is CRPS or RSD.  Been looking at places to take her for treatment and what is the treatment. I have thankfully been introduced to some moms with kids in the same situation and they are giving me lots of good advice on what to do and who NOT to see.  

PT, OT and psychology and medication are part of the plans for treatment. Though some places say no medication.  I think Whitney is going to need to try some sympathetic blocks to get through intense PT....

So on to findig what she needs...and figuring out if this is the only thing going on...