Hun, I know that answers will help you with other decisions right now also, and I'm really sorry you still don't have them. I know you will cope with the wait because you are so strong, but I wish things were easier for you atm You are in my thoughts hunn, and I am praying for a cancellation before January.
I had a friend as a teen who had Williams. She was lovely. Very elfin features as you say, low-set but large, somewhat pointed ears, low bridge to her nose, long neck and sloping shoulders, quite short limbs and stature. She communicated well though lacked confidence (she had rather a horrible younger sister who always made her communication problems worse so we used to try to get away from her as much as possible!). She would be about 33 by now, and was dx by physical pointers rather than genetics - she was one of the unlucky one's and had a VERY impressive scar from open heart surgery when she was a baby.
She was a truly lovely girl, and HAD become wise to some extent about strangers/mean people etc. She had very pushy parents which i think really helped because her mother wasn't willing to hear "your DD probably can't xxx" and was always ready to help her dauhter find a way to prove em all wrong.
Last i heard she was about 23 and settling into a sheltered housing complex. She was studying at college, though i'm not sure what. She did have some retardation, but it came across when you put a column of figures to add in front of her, not in general conversation, iykwim.
I'm sorry they're making you wait hun, i hope they have a cancellation soon. Immy is a lucky girl to have a mummy fighting so hard for her. I think that your intial reactions (both to not worry about her and to wonder about the ear tag and what it means) can BOTH be correct - she might have something choromosomal going on in there somewhere, but maybe you also don't need to worry about her. Look what a child of the Universe she is - both blessed and a blessing for you all, a little miracle. Someone is looking out for Immy and you all, she could have so easily not come to walk on this dirt we all share, and yet she did, and i think that she's here for something pretty big, whatever you find out next will be just what she needed to be to do what she's here to do. All kids can teach us things but boy, she is really something!
Hi Inanna, I am so sorry for all you and Little Imogen are going through. Im sorry you are still waiting for answers and I am some answers come soon for you and your precious little girl Imogen.
I have been through the waiting, and in many ways still waiting. They were looking into Noonans syndrome with V when she was born, but have since agreed that she doesnt have it. She has been with her pead since being born too, so everytime I go I take a deep breath and hope that he is happy with her progress. For me I am hanging out for the day that my Little V proves all the Dr's wrong.
I truly hope you get some answers soon hun, I know how hard all this waiting is. She too has had her heart u/s done as well as kidney u/s done that all came back ok. The only thing with the heart was a small echogenic focus on her left ventricle, but isnt affecting her heart at all. They explained to me that it is like a feckle on your face but it is on her heart.
Hang in there hun, and know that we are here holding your hand. hugs
lol I had to find some humor in you saying I have to pull my big girl undies on!!!
I understand completely I have been pulling mine on for weeks now, not very successfully!!!
It is very easy to get lost in trying to find the answers and not enjoying what you can.. I guess in time they will present themselves, and in the meantime trying to make the most of everything. In saying that I am not good at waiting, I want the answer now. ( she stomps her feet)
No real answers for us yet?? I am not sure if it is just precautions or whether they expect to find something else, but it is depressing to say the least and hard to enjoy the pregnancy..next step is another scan at 28 weeks, then if still no more can be found waiting till her birth??? No-one has given me any syndrome names, just that the problem they have found with her kidney is related to some syndromes??? At this time I am not asking, i feel it is one more piece of info that I don't need to know at this point, I would only go and google and wish i had'nt later, so until we get more definate answers I will wait it out.
Thinking of you & sending lots of strength and happy vibes.
I want to apologise for not posting in here for some time now.. It's been a challenging time & I've just had to deal with it my way. I don't get anxious or stressed generally & I have managed not to largely. Though I do think that I have really felt a bit exhausted & worn out. I have had so much going on!
Anyway Imogen had a chromosome microallay in late December when we saw a Geneticist. He observed mild dysmorphia (she has small eyes with epicanthal folds, tiny low set ears, she is so short she isn't on the centile chart and weighs just under 10kgs, she has a long smooth philtrum {the space under her nose} a tiny mouth, widely spaced teeth. She has developmental delay that is global, gross speech delay, a funny little gait where she is led by her head...
BUT she is my beautiful gorgeous amazing baby girl who I love more and more every day. I have come to peace with knowing she is what she is & I will give her the best opportunity I can in all aspects.
The Geneticist examined all of my children & noted the marked differences - but also the likenesses as well...
Anyway the results are in. She has an interstitial deletion of 3q28. Basically meaning part of the top arm of her 3rd chromosome is missing. This results in mild to moderate mental retardation, "small people", autisitic traits, eye and ear problems & cardiac issues. Thankfully she has had a normal echo of her heart so things seem to be fine there.
It's been a lot to swallow - due to the rarity of her disorder (there are only 5 documented ) it's really difficult to compare her & have any realistic idea of her prognosis...
On wards and upwards. I have been linked with Unique which is an organisation in the UK that deal with rare chromosoomal abnormalities. As yet they have not much on Immy's problem but are looking into it for me.
Good luck with the road ahead, Deb. It's good you have some answers, and she has the best chance she could ever hope for with you, there can be no doubt!
Deb.... I'm struggling to find the right words to convey what I'm thinking but I'll try...
I guess when you have those kind of tests, even if you know *something* is up, you hope at least to get a name, a prognosis, a treatment plan or even just an idea of what you can expect. And yet you got none of those things. Just an even bigger mystery and confirmation that Immy is even more of a special little soul than you knew.
Challenging is an understatement. Possibly the understatement of the decade. Expectations give you a guide, an idea, a way to orient yourself, a sense of what's possible. They also create a limitation, by giving you a sense of what's impossible. So in a sense while you can only go deeper into the mystery, you are not constrained by a sense of what Immy can and can't achieve. Everything is open to her. Your path together will truly be one of a kind. I really feel you have been chosen for this. I can't think of a better person to take a little girl by the hand and lead her safely into the unknown.
Many hugs, prayers and thoughts for you xxx
Hun, I am so glad that at least you finally have the answers. There must be some comfort in finally knowing
I am sorry that it is such a rare condition that it will be hard to get good information about it. I can see that in some ways that might be a good thing - you can discover all the wonderful little unique traits for yourself - but in others it will be tough. I hope that you are able to find the support that you need. I know that Immy already has from you
Thanks gorgeous ones. It doesn't help as the prognosis is from mild to moderate mental retardation, cataracts, cardiac failure, joint pain, scoliosis .... But I can't define the chances due to only having 5 cases. 2 of which died before 2yo...
Immy is healthy though... Aaaaah my son said tonight: "why did she get chosen for this"... I said: I am not sure but there is a reason that we have been chosen to love her & to help her...
i am in awe of how amazing you are..
you inspire me so much, not just from what you are doing for you fabulous daughter, but just your outlook on life and your positivity.
i wish i had 1/1oth of the positiveness you have..
you will guide immy through everything with grace and love, and to be honest that is the most special thing you can do for anyone and it is something you excell at.
yes you have been given a diagnosis which is rare and with very little known about it, but you will face each new hurdle with love and you will be positive towards it all so immy will never have negativity surrounding her and her condition she will never feel different and never feel abnormal, because to you she is special in everyway..
and to all of us she is special and no different to any other child, she is herself and you have always inspired me to believe that everyone is equal as we all have the same begining we just walk down different paths..
Registered User
sorry it wasn't more definitive for you.
some answers come soon for you and your precious little girl Imogen.
I have been pulling mine on for weeks now, not very successfully!!!
she stomps her feet)
Reply With Quote
Bookmarks