Sunday, July 21, 2013

The "slippery-slope" of gene therapy

First, to understand what I'm talking about, read this article:

Here is one quote from the article (but, you should really click on the link and read the whole thing):

"Gene therapy has already been used to treat medical problems that result from the presence of one defective gene, but this is the first time that silencing the impact of a whole chromosome has become a possibility."

The news in this article has been shared and re-shared by a good number of parents of children with PWS, on Facebook.  It is definitely exciting news; while the possibilities of gene therapy have been researched for some time, this particular development is one that really resonates in the PWS community.  There is a variety of PWS with which this possibility of turning off - or even turning on - a chromosome or parts of it is especially important: those children who have PWS by uniparental disomy, meaning they have two X (maternal) chromosomes in the 15th pair.  

I can't possibly get deeply into the genetics of this - I'm relatively smart but I'm not a geneticist.  What struck me as I read this article wasn't the miraculous science of it all.  Rather, it was the moral and ethical ramifications of this development that would be faced, I think, down the road.

Does this ability to turn off that extra chromosome - would that mean that when in-utero testing is done, and the tests come back as definitely positive for Down's syndrome, that then the parent(s) would be able to make a choice about their baby?  And by choice I mean, would they then be able to choose to still have the baby, but it would be a baby whose genes had been genetically modified so that they no longer had Down's Syndrome?

If this plan of action became available - what would society feel about parents who chose NOT to have their unborn child's genes genetically modified, and they thus chose to go ahead and give birth to a baby with Down's Syndrome?  If humans develop the ability to fiddle with who the next generations fundamentally are - their genetic makeup - where does that stop?

I would say that pretty much all the parents/caregivers of individuals with PWS would be in favor of their child/family member not  having this frustrating, complex syndrome.  I'm just not sure if we all really want to condone "genetically modified humans".  I do hope that research can silence the hyperphagia for my daughter and all those with PWS...I also think, though, that being able to orchestrate a syndrome-free or disease-free human may have some troubling ramifications.



Sunday, July 14, 2013


Summer is a very "mixed bag", I think, for parents of special-needs kids.

In one sense, it is definitely a break, a much-needed break, from the school environment and all that that environment means, for parents of children with special needs.  Since she is at home, I know obviously where she is and I am assured that she is not around any unnecessary food and/or people/kids who will not treat her appropriately.  I still worry about whether she is losing some of what she had been learning, in math skills especially, but there hasn't been too much regression in skills over summers so far, so I'm not too concerned.

However, I know Sophie misses the constant activity and the routine of the school day, and she also misses being around other kids.  So for her, summer isn't always a great thing.

Summer is a time of year that seems to make it especially noticeable how challenging it is for children-with-special needs to have true "friends".  By "friends" I guess I am thinking back to my own childhood, and how I and my neighborhood friends used to spend our days - roaming the neighborhood, going in and out of each others' houses, going to the pool, playing hide-and-seek.  While I do understand that times have changed, and things are not the same as they were 30 years ago, still I clearly see that for Sophie, this ease of having friends is not immediately possible.

For a "typical" child to have a friendship with Sophie - one which looks anything like that between two "typical" children - they would be required to meet her in the middle, somewhere between their cognitive level, and hers.  Sophie is 9, but has fun doing things that I suspect are more enjoyable for kids a year-or-two-younger.  So while I would dearly love for my wonderful, funny, sweet daughter to have true friends, I would be surprised at this point to come upon any "typical" child who knows how - or has been taught how - to adjust their play skills so that both they and Sophie have fun.  While I do notice and it breaks my heart, I sincerely hope that Sophie does not notice the neighborhood kids playing, choosing to play without her.  If she does notice, I hope and pray that she doesn't understand it enough that it hurts her.  I can't force kids to play with her, and I am too wary of kids being mean to her (which, again, I notice even if she doesn't) to want to push the issue.

School districts these days, for the most part, are instructed to practice the concept of "inclusion", where children with a diagnosis are still able to spend part of their day in the classroom with their same-age "typical" peers.  And for the most part, this is a good thing.  Unfortunately, though, there is still a piece missing in the inclusion effort, and that is, teaching "typical" children how to meet their special-needs peers halfway, in terms of spending enjoyable time together.  Sophie does not often have kids to play with, at recess time at school.  I have images of her standing by herself while outside.  Micro-managing her entire school day, and/or forcing other kids to play with her by demanding the school do something, seems to be the solutions that jump to mind.  Not the greatest solutions, and she does seem to have days where she plays with kids, so....

Here is a "for-instance", of how one child can learn how to interact with a special-needs child:  Sophie spends part of every school day in the Intervention Room, which is where special-needs kids spend time learning the subjects which they need taught at a pace different from their mainstream peers. In Sophie's room there is a student who in non-verbal and is in a wheelchair.  "Typical" children would take one look at her and assume that there is no way for them to interact with her in a positive, "play" manner - but as I learned, they would be wrong.  Sophie is high-functioning enough to be able to help out, in the Intervention Room, in small ways.  One of the ways she helps with this particular student is by pushing her around the room, in her wheelchair, when the student becomes upset.  It seems that this student prefers movement, sound, action around her - it is enjoyable for her and without it, she often starts to cry.  Is this something that "typical" students could help with?  Yes, in a supervised way of course.  It is a way that they could interact, positively, with a special-needs peer.

Ah  summer....supposed to be such a carefree time filled with sunshine and ice-cream cones....doesn't always work that way.