new to group, daughter is 3 and a half no diagnosis

Emily - posted on 04/13/2009 ( 9 moms have responded )

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hi all

i have 2 children (and 1 on the way!) my eldest bethan is nearly 7 and is well and healthy but my youngest freya has had problems since birth. it took until she was nearly 8 months old until my health visitor accepted that she had problems we were reffered to a peadiatrition urgently. freya had all the normal tests mri scans, emg, blood tests. but all came back normal. freya is classed as having global developmantal delay, hypotonia, plagiocephely, microcephaly, pectus evactium and epilepsy aswell as major feeding issues and regular chest complaints ranging from chest infections to pnemonia. she is currently not walking or talking and understands very little if anything she is still on mashed up food as she chokes on anything else. i have times of finding it hard not knowing what the future holds for freya but we take each day as it comes and are so thankfull for every day and every new thing freya acheives however small. its great to know there are other people out there facing similar things.

xx

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Lynn - posted on 06/25/2009

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My son is nearly two and has global developmental delays, microcephaly and hypotonia. He doesn't walk or talk. He drools a lot and eats soft/mashed foods. They've done every genetic test currently available and have not found anything. I had a perfect pregnancy and did everything by the books. It's hard not to have a diagnosis or even know why he has special needs, but that probably wouldn't change things anyways. He has therapy but I feel like he just moves at his own pace of development, regardless. He seems to thrive from being with other kids and they seem to be better therapists for him that the therapists. On the feeding issues, I notice that your daughter has respiratory issues. You may want to consider getting a swallow study done. They'll watch on an x-ray how your daughter swallows and determine if she is aspirating, or inhaling into her lungs, and food/liquid. Aspiration could contribute to her respiratory issues. Also, my son doesn't talk but "speaks" volumes with his facial expressions. Among his favorites is his pouty face when he's not happy with something. I think your attitude about taking things day by day is great!

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Carol - posted on 02/12/2014

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We have a little girl living with us; extended family situation. She has global delay, partially deaf, cortical blindness, microcephaly, hypotonia. She is at an infant developmental level, not walking or anything, g-tube fed. With this situation, we knew what we were taking on, yet, I would like to hope with major therapy and doing PT at home, that she could learn to sit. Maybe I'm just not being realistic. She has gained some head and neck control since coming to us, but a long way to go as far as being able to sit unsupported.Don't know why, but this is the one thing I wish she could learn to do. She is 3 1/2, has had early intervention, but no follow up at home. Am I being too naive to hope she can learn to sit? We don't have a cause or diagnosis.

Debbie - posted on 09/08/2012

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Our son is exactly the same..he has...Global Develoment Delay, Hypotonia, Acquired Microcephaly, Plagiocephaly, sensory issues and swallowing issues.....He will be three years old in 2 months time...he doesn't talk or babble...but is great with non verbal communiction, such as facial expressions, pointing etc...he uses Makaton & PECS to support communication... he has just take his first.... very tentative steps...the Peds..say it is probably an Undiagnosed Genetic conditon so we have been entered into the D.D.D (Decephiring Development Disorders) Research Programme....Have you heard of S.W.A.N (Syndromes without A Name)......it is a group of parents who have children without a diagnosis..who know exactly what it is like to live without a diagnosis......

A diagnosis will never change my sons needs....BUT... it will inform the future.....so we continue to wait :) x

Emily - posted on 06/20/2009

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hi everyone and thanxs for the reply's its reasurring to know there are other parents out there facing the same sort of issues. especially ones that have no real answers as to what is wrong. freya is in all the therapies going (not that its making much differance!!) and is hopefully starting a special needs school in september that take them at pre-school age which freya will be then. im dreading her going as i haven't ever left her with anyone other than mine and my husbands parents!!! do any of you notice danielle especially is your child expressive with there face?? freya has started to become very animated with her expressions maybe its because she doesn't have any words she pulls faces to get her point across or maybe its just a sensation from moving certain muscles and its not actually done for any affect, but we keep thinkin maybe this is her first signs of communication!!! no michelley freya doesn't have any bowel problems she doesnt go everyday but we've never noticed her upset or distressed when going although maybe thats something i'll keep a bit more of an eye out 4!!! danielle how did your son react when you had your next child????
xxxx

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Hey Emily,
This is the first time I have ever talked with someone, or typed lol, who has a child with some of the same developmental issues as my granddaughter. Just knowing there are other people out there is a relief in a way, do you know what I mean? I'm not glad any other children are going through this...ack, I can't seem to say it right :)
We are raising our g-daughter Ari, she is 3, she just started walking a few months ago, she talks very little. She can say some words, but doesn't have the pronunciation down, and we just started letting her feed herself by the request of her occupational therapist but we have to keep an eagle eye on her because she is a 'stuffer'. She will take everything and keep on putting it in her mouth until her cheeks are like a chipmonk, lol. They say she has sensory issues and she can't tell when her mouth is full..
So far we know she has hypotonia, macrocephaly, strabismus with optic nerve dysplasia. We don't have legal custody or guardianship so we can't make any appointments unless my daughter agrees. She was supposed to see a geneticist a year and a half ago but it didn't happen and finally my daughter ok'ed it. So now we will finally have a clearer picture of what's going on. I also think about the future for her. Will she ever be able to communicate? Is she going to be able to be in 'regular' classes in school and if so, will she be picked on? Oh, the worry that us mommas have, it is all consuming some times. I do know that she is definitely supposed to be here, she is a blessing straight from God, she is the sweetest soul I have ever met. She doesn't have the same issues that her cousins do-no fighting over toys, she's the first one to share with a smile, she is a hugger and has a "HI!" for everyone she sees. It's funny, if we are out shopping, each person that walks by us she chirps out "HI" really loud with a smile and I'd say only 25% say hi back, but you know, instead of getting her feelings hurt, she keeps on smiling.
OK I could go on and on forever, sorry. Is Freya working with any therapists? speech, physical, occupational etc.? It is free through the school system here, and it is wonderful.
take care and have a good weekend with the kids,
Michelle
Oh yah, i forgot to ask if she has any bowel movement issues? It took almost a year before her doctor figured out that with the hypotonia she has virtually no muscle involvement in her colon/intestine/rectum so her body was not moving it along and she had awful, awful bowel movements that were so large, we would cry with her. Another long story, but after many doc and ER visits we finally have her on over the counter miralax and she has no problems now.
ok, im really done this time, lol.

Dannielle - posted on 06/18/2009

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hi i have a 4 yr old who is very simalar he can not walk or talk he is only able to eat custard anything eles and he gags and chokes we have also had al the test includeing genitics and medicaly thay carnt find anything doctors are at a loss have no ansewrs ......i understand how frustrating it can be not knowing my son has also been classed as global developmental delay ,epilepsy,lower muscle tone ,hypotonia and floopy ..........i would love to chat more with u and swap tips and stuff ...its good to know that someone eles understands what im going though my son is the 2nd youngest of 4 we have meet many friends with speacial needs children who we love but none quit understand how hard it can be to have no anserws and no idea what the futuer folds for my beutiful son

Laura - posted on 06/13/2009

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Hey , Im also new to the group, my three yr old son has no diagnosis either but he is in speech class ( and has been for nearly two months) He just doesnt speak and also has mayor feeding problems. His teacher also works with him in motor skills areas and there has been a BIG improvement! He is now potty trained, is open to try more food and is understanding us better thanks to the techniques she has told us to do !
I live in Spain but Im sure there are much better speech therapists and specialists in the U.S. ! Hope this was helpfull and please know ur not alone ! best wishes!
:)

Rabaab - posted on 05/08/2009

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i think that you should see a speech therapist and genetic doctor. this will help greatly..

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