I spoke with the Children's Hospital of Philadelphia dept. of genetics & they told me that there is a new test for WHS. It's called a SNP. (http://www.illumina.com/Documents/products/appnotes/appnote_cytogenetics.pdf ) From my understanding it may help show a relationship between size of deletion of degree disease. There is a correlation from my understanding between seizures & size. She also gave us the site - clinicaltrials.gov to follow. Presently none are in effect. Not sure if this site is specifically for the states or not. Either way need to chat with neuro about it.
We've seen our genetic MD once in person & then spoke on phone with results of diagnose. Then that was it. She was on the money though when she did her initial eval of Sarah. I told my hubby he didn't need to go since it was just a consult - what a fool I was. She had Sarah diagnosed within 5 min - no lie. Based upon things you never would see in YOUR child. Now I notice them more when I see other children with WHS - wide spaced eyes, large forehead (so glad when her bangs grew in ;), small chin, over all teeniness. I was hysterical leaving the office (mind you pushing a stroller & toting a 4 yr. old & all in inner city Philly at 5pm AND had only lived in the area for less than 3 months)
Since both hubby & I are ICU nurses - we felt that we would handle the info at home better than in her office (we knew the lingo & such). She was great when she told us "It is not anyone's fault - this happens in nature blah, blah" (though my hubby insists it's me..."Hon - I've seen your family...they are crazy at times!!! he's so bad!! but it makes me laugh) But most importantly she said that though she will have gross developmental delays, she will always continue to learn. Just because at 1 1/2 yrs. old - developmentally she was at most 6 months - it didn't mean she would be like that forever. She would always be able to learn from new experiences. And it is true. We never thought that she would be walking! Now she's trying to verbalize!!
She told us all her care was supportive. Specialists soon took over & we haven't spoken with her since. But she was the first to give us hope. This - after coming home & getting on the net to look it up. If one person would have told me not to do that I would have been so thankful. If you know someone who has a child with a new diagnoses of WHS - talk to them or try to steer to a support group before letting them do their own research. I went into a depression for about 6 month post dx. & I blame it on the studies on the internet. There are not studies that show our children can not only grow up to be teens but crazy FB creating 20-somethings. I realized that my child is not that "bad" (medically speaking). I get down sometimes & it seems to always be around the time a MD appt. is due. I start the "pity thing" for my Sarah (me). But the along the way I see a child in a WC who cannot move & is so contracted that he cant move his arms (but is arguing with mom about schoolwork), I see babies with trach's & O2, I see some that have no hair or eyebrows due to chemo but a smile that is a mile wide.I see various degrees of heartbreaking bad intertwined with normalcy. I realize that it is all relative. Sarah's seizures are bad but she can walk, she can smile & she can show interest in things. Some children cannot do these things. Yes I wish she would feed herself or eat by mouth for that matter. But it will come...it will happen. I remember all this and that's when I realize I'm being silly.
I have a friend who has a child with ADD. She of course knows all about Sarah & she says to me. I don't know who you do it, I couldn't!" And my reply is, "Are you kidding me? I don't know how you do it, I don't think I'd have the patience" But he's such a sweet boy too!! We realized it's what you are given - we all adapt to life as humans. But mothers - this is where we shine!! We learn how to do things that we never would have thought we could do or much less would WANT too. Insert an ngt, replace a peg, access ports. We are hardcore!!
Though the only other worry we have is for our daughter Emily to see if she is a carrier. We know we will need to be tested for her - she is only 7 so we have time. *sign*
And speaking of my Emily - one of the things I love most about her? She understands all her problems (she gets the O2 & turns it on with seizures, heck she's even witnessed one before we had, she had helped change her peg tube & removed granulation tissue. (though vomit & poop are still out of her league...can't blame her) She truly is amazing. Emily knowing all this still thinks that Sarah will be riding the bus with her when she goes to Kindergarten next year. To Emily Sarah is normal. THAT is what make my Emily such an amazing girl. That is what I want everyone to see when they look at my Sarah - no she doesn't talk (but she's a great listener...as she's walking around the dragging things off counters) but if you need a smile? She's the one to go to. Always happy.
So in someways I am a bit bitter about the path we have gone down - I really don't think I've made it through all the stages of grief but I'm trying to get through them. But with each day I see the potential my daughter has and the goals that she kicked to the curb to move on & I am so proud of her. She has made me a more patient person. Honestly...if you would have know me gosh 5-6 years ago....I was a b***h. Negative - Negative-Nasty. No I try to find the good in everyone (yes it is hard sometimes) but everyone has bad days/decades. I still need to get more patience with my Em. She is so strong willed & high spirited and stubborn......*sign* this trait she got from both of us. doom.doom.doom :)
Bottom line - looks for the best in everything. When I think how it sucks that I have a daughter who has a genetic disorder & how unfair it is - I see another child who seems a bit worse off. My daughter has this & seizures, the inability to talk (oh I yearn to hear mom come from her) but she can smile And do you what her best gift is - her snuggle. I look forward to those every evening from her as she winds down. My other 2 "normal" girls never wanted to have snuggle time so I enjoy them & hope they are for awhile.
Life is good.....and I really do believe God brought Sarah my way. Not in the way some would say that I was being punished - because my God is not cruel. He knew that a child need a special mom & he knew that I could use some practice on a few things, like having patience with others & to learn how to empathize. So he sent Sarah my way... what a Godsend she has been.