I got sick of all the waiting yesterday and i decided to call the Genetisists office to find out if they could shed some light on when i might recieve the results. I was informed that they hadnt arrived yet, but they would be certain to phone me as soon as they did and would arrange an appointment to have the results read as opposed to sending a letter, she went through a few reasons for the possible delay and said she was sure it wouldnt be much longer, i got off the phone feeling strangly calmer than in the last few weeks.
Today was the first day that i watched the postman put mail in the letterbox and i didnt rush out to grab it with a pounding heart, and instead let it sit.
I decided to grab the letter out as i was waving goodbye to Lorelai and my heart skipped a beat when i saw the Hospitals logo on the envolope, and the Genetics Dept stamp on the back. I ripped it open and read the words:
".....All results were normal and at present, a specific cause for his developmental delay is unclear....."
At a moment when i probably should have been jumping for joy and singing i instead felt like i had been punched in the chest and promptly burst into tears.
It just feels like such an anti climax. I was so sure.
I had prepared myself to read the news either way until the phone call the previous day threw me out of wack and into a false sense of letterbox-opening security.
Come on Katie, This is a good thing!
Is it?
I have reached such an understanding of WS now that i think i could write a thesus on the topic.
Where do we go from here?
I am selfishly imagining all the people around me saying: "i told you there was nothing to worry about, i KNEW he would be alright" and those are NOT words of comfort. I feel stupid for letting myself become so involved without any 'proof' of the mystery ailment of my unique little son.
WS just explained everything - exept perhaps the nose.
The geneticist has made a list of his various irregular features in the letter and noted that he wishes to review Jai in 1-2yrs time. He had told us at the appointment that if these tests were negative he still felt we were dealing with some sort of Genetic thing, as although all his quirks are minor he has ALOT of them.
The only thing on the letter that i thought was slightly odd is that they reffered to the FISH as for 7q11.3 twice in the paperwork - i thought it was 7q11.23 - Although i am obviously not the one with all the degrees hanging on my wall so i can assume this doesnt make a difference or it is a typo.
Its probably just denial... What is wrong with me - Denial is a grief stage and i certainly shouldnt be grieving right now.
I have been so lucky to "meet" all of you and thank you whole heartedly for putting up with my ramblings, i love you and your children so much and if all of this was just a way to meet a bunch of wonderful people then i am glad it happened.
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12 comments:
Katie,
I am so sorry you did'nt get the answer you were looking for. Please continue to blog. Even though Jaiden does not have WS he is still part of our group, not only because he is delayed, but because he is a beautiful boy and we have all come to love him just as we have all the other kids. Hang tough girl. We love you.
Julie
So they gave him the FISH? I am assuming that tests for everything? Sorry you didn't get answers, it sorta makes sense that you didn't. It sounds like Jai has quirks in many areas, so not one clear cut DX fits him. And you know what sweetie that is OK. Its not great, but it is OK because regardless of a DX ALL of our kids are different in who they are, and what they face in life. Just expect everything great of Jai, he won't disappoint.
XOXO
Amy
Katie,
I'm so sorry. There is something to be said about having a diagnosis and 'knowing' what caused the delays in your child (and medical problems as well). I remember after my first appt with the geneticist thinking "if everything comes back normal I'll have to listen to everyone say...see I told you so!". Ignore those people (I know, easier said than done!) but you know your child MORE than any of those other people....you see the delays and help him thru them.
All I have to say is that you better not leave us! The fact is, Jai is "special" just like all of our ws kiddos. We're still walking the same path - dealing with the same issues with therapies and school. I enjoy reading blogs about children with down syndrome as well. Please, just continue to blog. We've all come to love Jai and want to see and hear how he (and you) are doing. Hang in there - I'm thinking of you. My heart is aching for you - I remember how relaxed I felt once I got a diagnosis.
xoxo
Please stay with us and continue to blog. It really does not make a bit of difference to me that his FISH test didn't come back positive. He is still the same sweet little boy I love to hear about :)
Hang in there and I do hope that you get some diagnosis to ease your mind. I am sorry that it wasn't WS...funny to say that huh..but true. I just wish you had an answer.
Hugs,
Noel
I wish that you had got the clear result you were after. Still, every child is unique and lots of the strategies used with 'our' kids (that work pretty well for regulars too!) will help Jai do his very best regardless. I hope that you find some peace in how to approach this. As Julie and Tara said so well - he is a dear little fellow and we love hearing about him and from you. Peace.
I have been waiting every day to read your blog and I just cried for you that you don't have answers. Stay with us. We are still family now and we will still support and love you and jaiden no matter what his DX is.
Keep searching for answers. They will come. In the meantime, keep being the great mommy you are.
Katie, I am so sorry that you didn't get any answers. How frustrating... I, as well, want to continue to read about your family. I got all emotional at the end of this post when it sounded like you were saying farewell. I know that I can use all the suppport I can get. If you continue to find support and comfort here, please continue to blog. I love reading about you, your family, and Jai and promise to continue to support you. Thinking of you.
Katie,
My heart just aches for you. I was so hoping you were going to get an answer, a diagnosis.
Once the initial shock wears off, I know you will contine to fight for Jaiden and do for him what you know in your gut and heart is right. You are an amazing mom.
Regardless of the results, you, Jai and the rest of your family are part of this blogging family we have here.
Sending ((((HUGS!))) all the way from New Hampshire! Stay strong, we love you!
Ugh, I am SO sorry that you weren't getting the answers you were looking for. Just a little push in the right direction will ease your mind. Ask your docs about ANY question you have - even that "typo". Make sure you keep blogging - we all love to hear about your family :)
Well Katie, what can I say that everyone else hasn't said?
You are the one with the Mommy-gut feelings for your child. I would not settle for 'nothing' as an answer as long as that feeling persists. I know you are probably too worn out to start fresh, but once you rest up mentally you can search for the answers that you need. We all love you and Jai tremendously so please continue supporting us and we will do the same for you! I'm so sorry Katie, I know too well what having an answer did for us. It's that constant nagging mystery that's enough to drive you nut's. You just know it's something, but what?you feel like any answer is better than none!
Jai makes leaps and bounds daily! I love reading your stories about him, and you have to admit that having a support network like this is a great thing! We are here for you! lot's of love, Heather
You're right, it is 7q11.23 not .3
I hope they got that right in their testing, or maybe it was a typo, who knows. From another message board I belong to, I know there are people on there who have had negative FISH tests but who still have almost all the qualifing characteristics of WS. Some say it might just be a smaller deletion, not quite the whole thing. Possibly that is the case with Jaiden. Either way, please keep blogging with us, you are a part of our circle now.
And I agree with everyone else, you just have to listen to that mommy gut. If you really know something is not quite right, just stick with that until you find someone who will listen and help you. We love you!!
I think what must be so frustrating to you with these results is you were so expecting one thing for so long and really expecting that to be the answer and then it wasn't. Not only that - now you have no answers at all and that must be frustating to not know what is going on. I hope you do get some answers soon though; sending you some hugs!
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