Neurofibrosis and deafness

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kat05

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I have posted elsewhere about my son's symptoms (profoundly deaf, a little late in his gross motor skills due to bad balance, skin rash). We have done dozens of tests which gave normal results (brain MRI, ear MRI and CI, eyes checked, ultrasound at tummy, blood tests, DNA tests, two skin biopsies that did not answer to what the rash is). I read about neurofibrosis (nf2) and some of the symptoms seem to fit in (none of the 3 neurologists we visited spoke to us about this). Does anyone know if neurofibrosis could lead to deafness in a baby's case? And how couuld we have a diagnosis?
 
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One thing I'd be sure to consider is that the deafness may be completely unrelated to the other issues he's having.

Lumping everything together may lead you farther from a Dx, not closer to one.

Just a thought from someone who has various health issues, completely unrelated to being Hoh/Deaf.
 
Yes Anij surely you may be right, however I thought that maybe all this could be related. So I thought that maybe a member of this forum could know whether profound deafness at such an early age could be due to neurofibrosis...
 
Yes, NF2 can result in lesions/tumors that cause deafness (and vision issues).

But the results of your child's CT and MRIs and other examinations should have provided your doctor with information she needs to make a diagnosis and begin appropriate treatment if they show abnormalities (and those tests were probably given for that purpose).
 
Thanks GrengdelQ, so I guess that since my boy's ear and brain scans (MRI, CT) are clear, the tumours are ruled out and so is neurofibrosis.
 
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kat05 said:
Thanks GrengdelQ, so I guess that since my boy's ear and brain scans (MRI, CT) are clear, the tumours are ruled out and so is neurofibrosis.
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This is why I recommended looking at them as two seperate issues: deafness and "other".
 
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As an aside - does her have any breathing issues, sunken chest, belly breathing etc. ?

Has he had a full allergy panel done to rule out allergens causing the rash etc?

I think you mentioned genetic testing ? They've ruled out any of the MD family?
 
Anij said:
Wirelessly posted (Blackberry Bold )

As an aside - does her have any breathing issues, sunken chest, belly breathing etc. ?

Has he had a full allergy panel done to rule out allergens causing the rash etc?

I think you mentioned genetic testing ? They've ruled out any of the MD family?
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no breathing issues. Lots of allergy tests(normal), dermatologists do not know what the rash is. Genetic testing OK (DNA normal, no syndromes). Eyes OK...
 
kat05 said:
Thanks GrengdelQ, so I guess that since my boy's ear and brain scans (MRI, CT) are clear, the tumours are ruled out and so is neurofibrosis.
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I know you're looking for a cause for your child's deafness, but it's very common for there not to be a reason why. It happened. It's a part of him now. I kinda find it odd that parents are always wondering why their kid is deaf or blind or uses a wheelchair, but they're never " Oh why does my kid have blue eyes or likes to read or whatever?"
 
I can't speak for other parents, but the reason I wanted to know why my child is deaf is because there is a high likelihood that with deafness comes other associated medical issues including such things as NF2, CHARGE, Waardenburg, Ménière's disease, Ushers, CAPD, and so on. And then there is a high incidence of learning needs as well (upwards of 40-60% of deaf children at schools for the deaf, depending upon your sources, have other diagnosed special needs from specific learning disabilities to ADHD) that parents of deaf kids need to be watching for. My child has a heart condition that I'd not have been aware of (until something happened) had we not gone looking high and low with uncommon testing for anything related to deafness. But now we (and others charged with her care) are prepared and vigilant for things we'd not normally expect. It's not that deafness causes these things, but whatever caused the hearing loss may have contributed to other medical issues your child is facing. Hearing loss maybe one of several symptoms of an underlying cause.

It's not an offense to the Deaf or not accepting that a child is deaf to look for cause and associated medical issues.
 
GrendelQ said:
I can't speak for other parents, but the reason I wanted to know why my child is deaf is because there is a high likelihood that with deafness comes other associated medical issues including such things as NF2, CHARGE, Waardenburg, Ménière's disease, Ushers, CAPD, and so on. And then there is a high incidence of learning needs as well (upwards of 40-60% of deaf children at schools for the deaf, depending upon your sources, have other diagnosed special needs from specific learning disabilities to ADHD) that parents of deaf kids need to be watching for. My child has a heart condition that I'd not have been aware of (until something happened) had we not gone looking high and low with uncommon testing for anything related to deafness. But now we (and others charged with her care) are prepared and vigilant for things we'd not normally expect. It's not that deafness causes these things, but whatever caused the hearing loss may have contributed to other medical issues your child is facing. Hearing loss maybe one of several symptoms of an underlying cause.

It's not an offense to the Deaf or not accepting that a child is deaf to look for cause and associated medical issues.
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I am aware that sometimes there may be other associated medical issues, and yes that might be a good thing to be aware there may be issues down the road.....but the thing is, in GENERAL I see a lot of parents going on and on about "oh we gotta find out why my kid is dhh, or blind/ low vision or whatever." and I just sit there thinking " WHY?" It's not going to change who they are! They just happened to be born with a difference!"
 
I totally agree... He is a wonderful boy I adore and would not "change" with any hearing kid in the world. I just want to know whether there are other medical issues we should watch out for.
It's not an offense to the Deaf or not accepting that a child is deaf to look for cause and associated medical issues.[/QUOTE]
 
kat05 said:
I totally agree... He is a wonderful boy I adore and would not "change" with any hearing kid in the world. I just want to know whether there are other medical issues we should watch out for.


That's good!!!!! But still I wonder how often things are discovered that weren't apparent at birth as part of a syndrome.
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As the doctors told me, this may as well happen. Differenent symptoms appearing later in life. Or even a syndrome that has not been thoroughly studied yet so the scientists cannot identify the metallaxis in DNA.
 
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