Tuesday, May 30, 2006

The End of Isolation

Me and My daughter at 2 and a half years old

I’ve mentioned before that it’s been difficult for my wife and me to come into contact with others who are parents of children with 1p36 deletions. Try as we may, there just aren’t very many of us out there. Parents whose children have other conditions usually have organized support groups to fall back on in times of need. But there’s nothing like that for us 1p36’ers. We quite often just get by on our own. At least that’s how it was for my wife and me, until about a month ago.

We received a letter from the University of Utah Department of Medical Genetics. The letter described another family with a daughter with 1p36 deletion syndrome and it included contact information. It said they were interested in talking with other parents whose children were in the same situation. So while I’ve been shy and just sharing my daughter’s story here online, this family was brave enough to have the folks at the hospital send out their phone number in the hopes of talking with other parents like them. My wife and I were excited to talk to someone else like us.

It took a couple of weeks to get up the courage to call, but we finally did. Since then, my wife and the mother of this little girl in another state have shared some incredible conversations. They’ve talked all about their experiences for literally hours. As it turns out this other family’s experience parallels my own family’s so closely it’s almost frightening. We’ve been through so many of the same things. It’s been so helpful to share stories, suggestions and comfort with each other. It feels so good to not be alone.

We plan to keep in close contact and share our experiences. It’s amazing how many “me too” moments we’ve had already. Knowing there’s someone else out there makes the load a little easier to bear.

On a related note, I’ve searched around the web for a good discussion forum for parents of children with 1p36 deletions and haven’t seen anything that’s currently active. It’s kind of disappointing, but if parents have things they’d like to talk about they’re welcome to post replies here on my blog and talk about anything that’s related. I really do believe that as a parent of a disabled child, communication with doctors and other parents leads to better care for our little ones and for us as parents too!


Anonymous said...

I'm jealous you've found someone to talk with who has such similar experiences; the isolation is really the worst part of a 1p36er's diagnosis!

(Honestly, I'm trying to restrain myself from just exploding with questions for you... gotta keep up the 'I'm a normal person' pretenses! LOL)

Wouldn't it be great if other folks started posting in your comments as well??

Rain on Tulips

Nate said...

Communication is a huge part of keeping these kids and us parents healthy (and sane). Don't hesitate to ask questions about things you'd like to know. I'll do my best to post answers. Some responses will probably make for some great topics for new blog entries too. Hopefully others will chime in as well.

Anonymous said...

Oh, where to start!?

I always wonder if other 1p36'ers have exceeded what the doctors have told you to expect? When we first got EK's diagnosis, we were told all these 'worst case scenarios', and were totally overwhelmed for several months with the evaluations and specialists, and left every night wondering if she was going to be "OK". (Whole long ramble about what that means cut!)

But... in spite of a lot of difficulties and setbacks, EK has surprised us in a lot of ways, and the bleak outlook we were given just doesn't match up with the happy, energetic, social little girl we have!

So... anyone else find this to be true as well??

Rain on Tulips, 1p36 category

Nate said...

The expectations the doctors set at my daughter's diagnosis were also very devastating. She was diagnosed at six months and she's now two and a half. So we've had some time to emotionally adjust to what they told us.

But the actual accuracy of their prognosis is interesting. My little one has beat expectations for mobility, dexterity and some other things. But some of the things the doctors told us are dead on. For instance they told us that 1p36 children only speak about 7 words on average. So far my daughter has spoken none. She really only makes the "A" vowel sound and the "M" consonant sound, so I can see how the 7 word prediction may very well be right on. There are other examples but the doctor's info so far has been hit and miss.

The thing the doctors never take into account that is so important is that regardless of dire predictions about what these kids won't be able to do, they are still loving, curious, sometimes silly, but always happy little people. As you've mentioned, scenarios may be pretty grim, whether they come true or not, but these kids are just amazing!

Anonymous said...

Dear Nate, My son was just diagnosed with 1p36 this morning. I am searching on the interent to find information and resources for this disorder. I would like to talk with you and compare our children a little, so I can see where he is at and maybe what I should expect. Please feel free to email me at jcarlton24@yahoo.com or let me know of a better way to write back and forth. Thank you so much!

Nate said...

Hello Jen, and welcome.

I've responded to your email and will be glad to answer any questions you might have. bella is also pretty active up here and has been through a lot of the same experiences. Hope to hear from you soon.


Anonymous said...

Welcome, Jen! Glad to see someone else out there -- not that I wish 1p36 on anyone, but, at least you find you are not alone!

Please feel free to email me, as well... tulips (at) fluidnature (dot) com! I also post pretty regularly about my 1p36'er, EK, and all of her siblings at Rain on Tulips