Help with diagnosis? ANYONE I NEED HELP! - Mothering Forums

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#1 of 12 Old 02-26-2010, 02:35 AM - Thread Starter
 
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Sorry this is very long!
My daughter is 10 months old. When she was born they used the vacuum and she spent 8 days in the NICU because of the swelling on her head they thought she had a subgaleal (sp?) hemorrage. She was not premature. It ended up not being this but they did find that her left ventricle is slightly larger (they think this may be due to some damage or lack of oxygen in utero but don't think it will effect her-noone really knows yet) she also has some lack of white matter on this same area.
We also found out in the NICU that she is severe-profoundly deaf bilaterally. She has had hearing aids since 3 months and they do not help her at all. We are scheduled for a consultation for CI but still have not met with them yet.
She also has MANY developmental delays. She has been in physical therapy since she was 5 months old and recently started occupational therapy as well. She cannot sit up on her own, will not put any weight on her legs and therefore cannot even stand, refuses to put weight on her arms during tummy time so she does not even push herself up and just really got the rolling down thing over. So gross motor skills are FAR behind, while fine motor skills are about average.
She also has vision issues. Her left eye is lazy, it also is a cross eye, and she has nystagmus which they think is from spasmus nutans (no seizures-eeg came back normal). However it is not a typical lazy eye or cross eye because the eyelid does not move at all. She rarely blinks this eye-but she can close it and does blink on occasion.
Lately she has been showing some signs that I don't know are consistant with deaf babies or if she may have something like autism? She is more content playing by herself than anything else. Absolutely obsessed with her hands. She scratches EVERYTHING. When one hand makes a movement or bangs a toy the other hand does the mirror image of it even though it is not touching anything. She always bangs her toys on her head and lately does not make hardly any eye contact.
We have seen 3 opthamologists, neurologists, pediatrcians, geneticist, therapists, ect. and NOBODY can tell us ANYTHING!
It is really frustrating trying to figure out how to help her best when we don't know what is wrong. Does this sound familiar to ANYONE out there? We were thinking maybe Wildervanck syndrome but when we asked about it to the geneticist she said it might be a possibility but it still doesn't explain her developmental delay.
ANYTHING you can say will help me. thank you so much!

Wife to Robert 8-9-08heartbeat.gif Mommy to Lani 4-24-09 babygirl.gif and Cambria 3-25-11 babygirl.gif and one on the way! 6-26-13 stork-suprise.gif

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#2 of 12 Old 02-26-2010, 11:34 AM
 
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Welcome!!!

We have a bit in common...my son is hearing impaired (although only mild-moderate) but his hearing loss is conductive due to mild microtia/atresia, malformed ear drums, and complications from a cleft palate (fluid, infection, etc). He doesn't wear aids because of his physical malformations. We use ASL with him and he is doing fantastic with it!!! (he's 36 months old, his signs put him in the 36-40 month range, his verbalizations put him in the 15-18 month range).

He also had a gross motor delay and fine motor delays, although he overcame his gross motor delays by around age 2 and his fine motor delays are mild now.

He has esotropia, depth perception issues, and maybe has strabismus (or pseudo-strabismus, hard to tell because his eyes are wide spaced and his nasal bridge flatter than normal).

We did discover an underlying chromosomal syndrome, he has a deletion on chromosome 22 called Velocardiofacial Syndrome or DiGeorge Syndrome. It took 11 months and three visits to the geneticist before the right test was run to find this diagnosis. Finally they did a Microarray and discovered the deletion.

Now we're dealing with severe speech issues, immune deficiency, slow growth, and we're working on transitioning him from Early Intervention to public schools (what a process!)

This forum has been wonderful!! No one has the exact same issues as Connor, but that's part of what makes this so great, we cover the whole spectrum!

Mommy to BigBoy Ian (3-17-05) ; LittleBoy Connor (3-3-07) (DiGeorge/VCFS):; BabyBoy Gavin (10-3-09) x3 AngelBaby (1-7-06)
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#3 of 12 Old 02-26-2010, 01:57 PM - Thread Starter
 
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It's just so frustrating nobody can give us ANYTHING! her ears are fine, deafness is not genetic and does not run in the family. So why can't they tell us anything? there has to be a reason she has all of these things. Thanks for your support!

Wife to Robert 8-9-08heartbeat.gif Mommy to Lani 4-24-09 babygirl.gif and Cambria 3-25-11 babygirl.gif and one on the way! 6-26-13 stork-suprise.gif

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#4 of 12 Old 02-28-2010, 11:28 AM
 
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Welcome! I don't have much insight into your situation, but wanted to let you know you have found an amazing group of parents here. I hope someone will be able give you more specific information to help your dd. (Hugs)

K- Mama to : and :
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#5 of 12 Old 02-28-2010, 04:26 PM
 
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There's something thats in the back of my mind, can you share a pic of your dd? One that clearly shows her face up close?

Seriously?
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#6 of 12 Old 02-28-2010, 05:26 PM
 
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I can hear your frustration. I hope that you find answers soon. Have they done the microarray chromosome test? Maybe that would turn something up, as chromosome disorders can have a lot of those symptoms. Other than that, a brain injury can also cause all the things you list, so maybe this is all from the brain injury she may have had during birth.
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#7 of 12 Old 02-28-2010, 06:58 PM - Thread Starter
 
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How do I add a picture on here to show you?

Wife to Robert 8-9-08heartbeat.gif Mommy to Lani 4-24-09 babygirl.gif and Cambria 3-25-11 babygirl.gif and one on the way! 6-26-13 stork-suprise.gif

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#8 of 12 Old 02-28-2010, 08:08 PM
 
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ok, I looked at the pictures and her eyelid has a crease which indicates she does move it so its not a muscle paralysis issue, its probably the angle of the pictures but the eye with the ptosis (thats the droopy one) looks to be a different size then the other one. It also looks like the lid may be a different length then the other eye. I think you may be looking at 2 different issues but its possible that if she has brain damage (the white matter issue) that would account for the ptosis as well as the delays and hypotonia. There's also only a handful of syndromes that cause ptosis which could help narrow down your search. You need more information, what other "defects" does she have? Little things you don't really think about, with my dd she had rail road tracks behind her ears which meant malformed ears, high arched pallet which was another clue, palmer crease, lots of little things that added up and turned out to be Saethre-Chotzen syndrome (its expression is extremely variable, my dd's case is vary mild compared to other SCS children I know, the only obvious part is the ptosis), she had severe hypotonia which was caused by a metabolic defect that wasn't discovered until around 14 months. Started treatment and delays disappeared within weeks.

I did some googling based on the info in your post and narrowed it down but you need more information, I googled "ptosis developmental delay Strabismus profound deafness nystagmus enlarged ventricle hypotonia white matter" you can narrow it more by providing more info. Little things really matter when trying to find an answer. I know genetics had an instant AH HA! moment and ran out of the room as soon as I mentioned dd could fold her shoulders down to midline and they checked and found short clavicles which to me wasn't major just freaky but was a huge thing to them.

oh yes, she's a cutie

Just an after thought, does her hair normally go like that part? Has she been checked for craino issues?

Seriously?
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#9 of 12 Old 02-28-2010, 08:27 PM - Thread Starter
 
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she did have torticollis when she was born and now she has plagiocephally, so yes her skull is slightly deformed but almost back to normal again. I know our geneticist stripped her down and looked her over head to toe but never really found anything that would help put a diagnosis to it. Thanks for all your help!

Wife to Robert 8-9-08heartbeat.gif Mommy to Lani 4-24-09 babygirl.gif and Cambria 3-25-11 babygirl.gif and one on the way! 6-26-13 stork-suprise.gif

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#10 of 12 Old 02-28-2010, 09:36 PM - Thread Starter
 
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Something that has also been a bit confusing----she does not have hypotonia. Her pt says that her muscle tone is completely normal, for some reason she just refuses to bare weight on her legs or arms.

Wife to Robert 8-9-08heartbeat.gif Mommy to Lani 4-24-09 babygirl.gif and Cambria 3-25-11 babygirl.gif and one on the way! 6-26-13 stork-suprise.gif

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#11 of 12 Old 03-01-2010, 12:05 AM
 
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Quote:
Originally Posted by hdirks View Post
We have seen 3 opthamologists, neurologists, pediatrcians, geneticist, therapists, ect. and NOBODY can tell us ANYTHING!
It is really frustrating trying to figure out how to help her best when we don't know what is wrong. Does this sound familiar to ANYONE out there?
I'm so sorry that you are going through this.

While you keep searching for answers, I believe that your love is helping her.

but everything has pros and cons  shrug.gif

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#12 of 12 Old 03-01-2010, 07:34 PM
 
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OK, so I see you have seen multiple specialists, but I have another suggestion. Have you seen a physical medicine & rehab doctor? We have a great one that coordinates all our therapies, arranged for the orthotics we needed for weight bearing, and generally coordinates our rehab care. She also sees only special needs kids, so she was able to see some physical characteristics that everyone else missed and refer us to some better specialists.

Wife to M , Mommy to DS aka Captain Obvious  (06/06) and DD aka Lissalot  (03/09, anoxic brain injury)
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