Life with MS & EDS

September 11, 2009

Share your thoughts on MS and Genetic Research!

Filed under: Uncategorized — by mseds @ 2:15 pm

Please see this posting by Lisa Emrich over at Brass and Ivory regarding MS and Genetic Research:

Earlier today, I was contacted by Virginia Hughes who is a freelance science writer with a special interest in genomics and disease, specifically autism and schizophrenia.

She is participating on an ethics panel at the 2009 Cold Spring Harbor Laboratory (CSHL) conference on Personal Genomes. Virginia says that “they’ve ask me to comment on what I think is the current and future appetite for genetic testing among people who belong to various disorder advocacy organizations, such an MS organizations.”

She is looking for solid numbers to include in her presentation, so created a survey about our thoughts on Multiple Sclerosis, Genomics, and Genetic Research.

The survey is simple – only eight short questions. Virginia would appreciate receiving at least one hundred responses so that the results might show some meaningful trends. Perhaps we could spread the word and get even more than that.

Please complete the survey and be sure to mention the MS blogs and groups where you often read MS-related information.

Thank you,

Lisa Emrich

September 7, 2009

Feeling Blue

I’ve been trying to find time to organize my thoughts and actually sit down to write this post, but I’m either not near something to write with when my thoughts come together or my thoughts escape me when I am able to capture them.  The ideal time just isn’t happening, so I’ll make do with less than ideal.  Now if only the girls would entertain themselves long enough to stop interrupting my thoughts every sentence….

My MS has been under control.  For the most part I’m still benefiting from the Solumedrol/Prednisone experience last spring.  I’ve accepted the fact that my optic neuritis in my right eye is here to stay and that the vision will never improve to 100%.  While I’m not enjoying the Copaxone shots, they have become part of my routine and are going okay.  I’d still like to replace the arm shot location, but can’t think of another body part to use since I’ve already ditched the thighs.  Every now and again I’ll use an extra stomach shot or the side of my hips, but for the most part I just suck it up and deal with the arms.

Despite my physical health doing okay, I’ve been feeling blue most of the summer.  Little Sister has been extremely challenging the past few months.  Until now, I’ve always thought of myself as the parent of a child with a developmental delay.  She walked at 26 months and has had other motor-related delays.  In all of her evaluations for services, she always placed approximately 6 – 12 months behind.  I could handle that.  However, this past spring during her evaluation her motor skills and other abilities placed her at between 30 – 36 months old.  Chronologically she was 59 months old, so she’s now showing an overall delay of approximately 50%.  The scores themselves are between a 25% and a 75% delay, depending on the ability.  This struck me pretty hard.  I’ve known that she’s not where she should be for fine motor for a long time and have been saying this to the various therapists and administrative folks who have seen her.  I know that not writing letters or most shapes by 5 isn’t typical.  However, the tests finally caught up with me.  I suppose they finally expect more at 5 than prior to this and her scores just plummeted.  It’s not that she’s regressed or anything; it’s that she hasn’t progressed.

This together with her behavior has been a real challenge.  I’ve gone from being the parent of a child with delays to the parent of a special needs child, which for me is a very big distinction.  Before I could just pretend that she was about a year younger than she really was and that eventually she’d catch up or that being off a year wouldn’t matter in the long run.  I can’t do that anymore.  Her sensory issues have dramatically escalated.  For example, last summer we were able to take her to the circus, the movies, and other similar places.  This year we can’t even go out to a restaurant without a breakdown.  She flat out does not want to leave the house unless it’s to go to school, the family beach house, or her grandparents’ houses.  She cannot tolerate any loud noises, unless she’s making them.  Rooms need to be lit like broad daylight, regardless of the time of day.  Calling her eating style “picky” would be an overstatement.  Let’s not even get into how awful it’s been trying to potty train a 5 year old!

Speaking of potty training, I do finally have a name for the stomach problem both of our girls have.  It’s called Encopresis.   It’s a condition of chronic constipation, along with reflexive withholding of the stool (refusing to go to the potty and not even realizing that they have to poop.)  This was an “ah-ha” moment this week.  It’s nice to finally have a name for this and hopefully be able to track someone down who can help us with it.  Every doctor we’ve seen, including the pediatric gastroenterologist specialists we’ve taken them both to in two different major metropolitan areas has never once mentioned this to us.  They’ve given us the basic lectures about needing to have them do potty sits (“Every day, after dinner, have them sit on the potty for X number of minutes.” – Thanks, doc, that’s helpful….)  They’ve prescribed various doses of Miralax and FiberSure.  They’ve lectured us on making sure they are drinking enough, getting enough fiber, and so on.  However, what they fail to acknowledge is that this goes beyond typical constipation.  Neither girl even notices that they need to use the bathroom!  They don’t even feel it.  They’ve conditioned their bodies to completely ignore it!  Until they tackle the psychological part of this, we’re never going to see improvement.  For now we just keep throwing out an absurd amount of underwear (we should by stock in Hanes!) and trying any way we can think of to make them use the bathroom.  A couple of weeks ago we finally put Little Sister in underwear during the day.  She’s getting the peeing part down okay.  She has accidents about 15% of the time.  But, pooping is a whole other story!  I’d like to blame this on the Ehlers-Danlos and her hypotonia.  It makes sense that since she’s stretchy that something like this could happen.  But, Big Sister doesn’t exhibit any of the signs of Ehlers-Danlos and still has this problem, so there’s got to be something else going on.  I am going on a quest to find a doctor who can tackle this once and for all.

And as if this was stressful enough, I’ve had a difficult time handling Little Sister’s outbursts.  We’ve been at the beach all week, which is our typical week before school starts routine.  It’s our second long getaway of the summer (the first being Disney and you’ve likely already read how poorly that went.)  Going down the shore is usually low stress for her.  There are days when she flat out refuses to go to the beach, so I usually stay back at the house with her.  I love the beach, but if I don’t get down there every day, that’s fine with me.  However, I cannot handle being stuck in the house 24/7.  This week it’s been difficult to get her to leave the house at all.

Here’s the event that made me just lose it.  When we’re down here we almost always cook at home.  Saturday we decided to have lunch out.  Yeah!  I was going to get to try a new restaurant and I didn’t have to cook!  We found this nice looking Italian place in town.  We got seated and I picked out something that sounded yummy.  After ordering I noticed that Little Sister seemed to need to use the potty.  I made her come to the bathroom with me and once back there she started screaming and crying!  I’m sure everyone heard us.  Getting her to sit on the potty became a huge struggle.  I pulled her pant off and held her there, not sure why I was doing that because I knew it wasn’t going to work.  After about a minute I took her off and dressed her again and ended up in tears myself.  I just couldn’t take it anymore.  Potty training has been a disaster, her behavior has gotten pretty bad, we cannot even go out as a family anymore, and I’m not handling this well.  I ended up carrying her out of the bathroom and straight out of the restaurant, asking my husband and mom-in-law to box up my lunch and coffee.  My husband followed me out and helped me carry Little Sister out to the car, where she and I just sat in the car crying.  I’m at the end of my rope with her and not sure what to do next.

We’re meeting with her occupational therapist and physical therapist a week from today.  We’ve not had the chance to sit down with them yet and I’m hoping they have more insight on things than her case manager who meets with us to do her IEP.  Although her sensory issues are not a problem at school and have therefore been a struggle to get into her IEP, they are making life at home almost impossible.  There’s got to be something we can do.  I also ordered two books on sensory integration and they arrived just after we left for the beach.  I’m ready to seek family counseling at this point.  I’m tired of crying about this and feeling helpless.  It doesn’t help that we should be seeing her go off to her first day of kindergarten this week.  I know she’s not ready and I’m 100% certain that keeping her back a year was the right decision, but it’s still hard.

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