Intro

[duff]

Hi All...I thought I'd intro here, even though I've been on and off GBCN/TB/TK for well over 12 years now.

I have a 12 week old daughter that was diagnosed with an uncommon genetic syndrome when she was 5 weeks old (Prader-Willi Syndrome).  Only about 1 in 20,000 kids are diagnosed, so I'm sure it's pretty unknown around here, but in a nutshell, she's pretty hypotonic and had problems eating from a bottle.  After being in one NICU for the first month of her life, we were transferred to a bigger teaching and research hospital and were in their NICU for a little over two weeks (7 weeks of NICU time total).  One of her doctors at the first hospital suspected PWS and we got the results shortly after our transfer.  She was given a G tube about a week later.  Although she has the G tube, she's been eating the majority of her daytime meals from a bottle since soon after we got home.  We're hopeful the tube will be unused by October/November and removed around her first birthday.

Continuing on with my description of PWS, even though she struggles to eat now, she will eventually swing in the opposite direction.  Her brain will not be able to communicate to stop eating, and we will literally have to lock up all the food in the house.  She will also deal with developmental delays.  We've started EI and she is currently receiving physical, occupational, vision, speech, massage, and pool therapy (she's a busy girl!) and we'll find out in a couple of weeks when we'll be able to start growth hormones.  She's on a very small amount of oxygen now, which may need to be continued once we start the hormones - we have a pulmonary appointment tomorrow, so I'll know more then.

So, that's my very long intro.  I'm really, really struggling with the diagnosis still, especially on top of the traumatic birth and NICU experiences (my water broke at 31+6 and I was on hospital bedrest for 15 days before my c section).  I'm not sure how active I'll be on the boards since my emotions are still all over the place, but we'll see now that I'm back at work.  

[auntie]

Hi duff,

That's a tough dx to process. Kudos to you for having such a terrific EI plan in place already.

[mamaturtle]

Welcome to our board!

[freezorburn]

Welcome duff! Thank you for sharing your story.

[kkfeb04]

Welcome. My son had a daycare friend with PWS. Sweet little girl.

I will pm her blog.

[zaraceli]

Welcome and thank you for sharing.

[toastie]

Welcome! My son has a classmate with PWS and we have a 50 yr old friend with PWS. Congrats on your baby girl!

My boys have a rare X chromosome mutation.

[urmysunshine77]

Welcome and I look forward to supporting you.

[caramia]

If it helps, I know a girl with PWS. She turned one in March & really isn't very delayed. She used oxygen during sleep, had a g tube but doesn't need it anymore, and has responded very well to the growth hormone treatment. On top of all that, she's the friendliest, happiest little kid. She loves to dance & wave, she's close to walking, and she crawls everywhere.

I know it'll be so so hard, but stay hopeful and strong. Find a support group or even just one other parent who has a special needs kid. They may not get the specifics of PWS but they'll understand the struggle in general. I can't stress how much it helps to have that connection (my daughter has Spina Bifida & epilepsy). Hugs & hang in there!

[macchiatto]

Welcome and I look forward to getting to know you better!
Thinking of you as you process everything you've been through and what may be coming with your DD.

[duff]

Jun 23, 2017 21:01:29 GMT -5 caramia said:

If it helps, I know a girl with PWS. She turned one in March & really isn't very delayed. She used oxygen during sleep, had a g tube but doesn't need it anymore, and has responded very well to the growth hormone treatment. On top of all that, she's the friendliest, happiest little kid. She loves to dance & wave, she's close to walking, and she crawls everywhere.

I know it'll be so so hard, but stay hopeful and strong. Find a support group or even just one other parent who has a special needs kid. They may not get the specifics of PWS but they'll understand the struggle in general. I can't stress how much it helps to have that connection (my daughter has Spina Bifida & epilepsy). Hugs & hang in there!

This has been a lifesaver for me.

I registered with the national PWS association on a Friday morning, and on Monday afternoon I had a parent mentor calling me.  My mentor lived in my city for 25 years and recently moved only 5 hours away.  My city also has the first PWS group in the contry, which is bizarre since I don't live in a major city or anything.  

And in a really weird twist of fate, there's another family who lives about 15 minutes away from me.  Their DS is 9 days older than my DD and they got his PWS diagnosis two weeks before we did.  We missed each other in the NICU by about 4 days.  We actually have the same parent mentor, so she was able to get us in touch.

For something so rare, I can't believe the community we are so lucky to have!