Need help with congenital problem...

[rebeccalj]

Do not know if *right* forum but need to figure out problem with genetic deafness. Daughter having son on December 23. C-section.

Cannot wait to see *new* grandson.

She concern because one daughter already show signs of HoH. Before her 2nd daugher she already teach children baby sign and now moving to ASL because of me. Cannot tell you *HOW* much this mean to me. She also say will teach new baby son ASL. Cry really. Just typing that. She and I have challenge kind of relationship all life but moreso because of circumstance of arrange marriage to her father who she suppose should think stay with him and not leave family or religion. Uhm, okay....back on track.

Anyhow, recently contact audiologist in first city for audiogram because of 'audist' 3rd daughter. They do not have so write to other city but my files never arrive there even though note on file to expect them.

Fortunately, or unfortunately, depending on how you look at, my mother no longer around to answer these question. Do not have files to be sent back to me to provide copies to children that would explain congenital defects that caused my deafness.

Suppose, to self, two oldest daughters not have worry about deafness because 'father' not deaf and, yet, oldest daugter have worry about *her* second daughter and ability to keep up? Suppose seem more concerned about my two youngest because their father deaf one ear. Plus both babies born premature. Daughter 3 months. Son 1 month yet he almost die at birth.

Anyhow, question is this. I remember Botti correctly 'tag?' one problem I have with deafness. The other congenital problem have is 'hairs' on ear canal not born with. Sound do not, how say, deflect proper? Have tinnitus but not regular like some posters.

Do research and cannot find proper term but eldest daughter wants to read and understand the defects so that she can be aware in case skip generation and grandchildren could become HoH or deaf. Does anyone have similar congenital defect (ie: no little hairs)?

 

[sallylou]

If the gene is dominantly inherited the parent must inherit the gene to pass it on. The child need inherit only one copy of the mutated gene to be affected. (50% chance) Generally, if the parent does not show manifestations of the mutation, the parent cannot pass it on. This is complicated by "reduced penetrance," which means that a person may inherited the gene yet not show any symptoms, and "variable expression," which means people with the same genetic mutation may show different symptoms. This makes it difficult to trace the inheritance of the dominant mutation. Isn't that as clear as mud? lol

Most hearing loss syndromes are recessive, which means both parents have to pass on a mutation to affect a child. These syndromes are generally have more severe medical issues and deafness is usually congential (exists at birth). A child must inherit a copy of the mutation from each parent.

X-linked syndromes pass through generations either dominantly or recessively (or a sporadic event). Generally, males are affected more severely than females. (like Fragile X syndrome) Females may be carriers or have the syndrome, depending on the particular sydrome.

Mitochondrial inherited syndromes can only passed by a mother to her offspring. The mutation cannot be passed on by a male. These syndromes are rare and I don't know much about them.

Those are the known possibilities. I have a dominant genetic mutation (unlikely x-linked dominant, depending on whether my uncle was affected - I have no information). I don't know which mutation exists in my family because of the current state of technology and knowledge. Genetic testing is prohibitively expensive and often not covered by insurance. Even if expense were not an issue, a genetic counselor has to pick the applicable syndrome and test for that specific gene or genes. If you're lucky, the geneticist will pick the right gene and a test will show a known mutation. If the mutation is not known, you're out of luck. If the test does not show a specific mutation, the test is not conclusive because the person may still have the syndrome. The syndrome may be an unknown mutation or caused by a different gene. A microdeletion does not show up on standard genetic testing (requires more clinical testing). Wow! A lot of maybes and no clear answers!

My advice, FWIW, is to forego the genetic quest until technology improves and the medical professionals know more about genes. In the future, the next generation may have more reliable testing. That's what I hope for. Not because of hearing loss, but because of other serious medical issues unrelated to hearing. If it's only deafness without other physical birth defects or metabolism dysfunction, the testing is not as valuable and as urgent.

Congrats on the new grandchild. No doubt that you will love the child regardless of hearing status. You are truly blessed!

 

[Anij]

If you want to know what (if any) genetic cause you have for your hearing loss the best thing would be to request a genetic test specific for hearing loss/deafness done for yourself and have your adult children (and their spouses) request genetic testing as well. Once you get the results a genetics counselor will explain what it means, and if it's likely to be passed on to your grand children etc.

I hope that answers your question ?

 

[rebeccalj]

If the gene is dominantly inherited the parent must inherit the gene to pass it on. The child need inherit only one copy of the mutated gene to be affected. (50% chance) Generally, if the parent does not show manifestations of the mutation, the parent cannot pass it on. This is complicated by "reduced penetrance," which means that a person may inherited the gene yet not show any symptoms, and "variable expression," which means people with the same genetic mutation may show different symptoms. This makes it difficult to trace the inheritance of the dominant mutation. Isn't that as clear as mud? lol

Most hearing loss syndromes are recessive, which means both parents have to pass on a mutation to affect a child. These syndromes are generally have more severe medical issues and deafness is usually congential (exists at birth). A child must inherit a copy of the mutation from each parent.

X-linked syndromes pass through generations either dominantly or recessively (or a sporadic event). Generally, males are affected more severely than females. (like Fragile X syndrome) Females may be carriers or have the syndrome, depending on the particular sydrome.

Mitochondrial inherited syndromes can only passed by a mother to her offspring. The mutation cannot be passed on by a male. These syndromes are rare and I don't know much about them.

Those are the known possibilities. I have a dominant genetic mutation (unlikely x-linked dominant, depending on whether my uncle was affected - I have no information). I don't know which mutation exists in my family because of the current state of technology and knowledge. Genetic testing is prohibitively expensive and often not covered by insurance. Even if expense were not an issue, a genetic counselor has to pick the applicable syndrome and test for that specific gene or genes. If you're lucky, the geneticist will pick the right gene and a test will show a known mutation. If the mutation is not known, you're out of luck. If the test does not show a specific mutation, the test is not conclusive because the person may still have the syndrome. The syndrome may be an unknown mutation or caused by a different gene. A microdeletion does not show up on standard genetic testing (requires more clinical testing). Wow! A lot of maybes and no clear answers!

My advice, FWIW, is to forego the genetic quest until technology improves and the medical professionals know more about genes. In the future, the next generation may have more reliable testing. That's what I hope for. Not because of hearing loss, but because of other serious medical issues unrelated to hearing. If it's only deafness without other physical birth defects or metabolism dysfunction, the testing is not as valuable and as urgent.

Congrats on the new grandchild. No doubt that you will love the child regardless of hearing status. You are truly blessed!

So, do I understand that probably my deafness is pass down from paternal grandfather even though he is not deaf? That probably both my parents carry gene?

That if fathers of my grandchildren carry the gene *and* daughters carry gene, then more likely to have deaf or HoH child?

That my son more likely to have deaf child because 'both' parents have deafness?

Just trying to make sense of what you write but fascinating.

 

[Bottesini]

Mendel's Law.

 

[rebeccalj]

If you want to know what (if any) genetic cause you have for your hearing loss the best thing would be to request a genetic test specific for hearing loss/deafness done for yourself and have your adult children (and their spouses) request genetic testing as well. Once you get the results a genetics counselor will explain what it means, and if it's likely to be passed on to your grand children etc.

I hope that answers your question ?

Do not think older daughters too worry about if child could be deaf or not. Probably do not want testing because either way reality would be deaf child or hearing child. Test will not change that if make sense?

Oldest daughter think medical term for 'no hairs' in my ears = sensorineurial, which true, but thought there is specific medical term for 'no hairs' in ear canal.

 

[rebeccalj]

Mendel's Law.

I just read about this but is like Greek to me. Do not understand what it all means.

 

[Bottesini]

I just read about this but is like Greek to me. Do not understand what it all means.

Well, you notice I didn't lay out a big explanation. Just suggested a study course.

And I fear this may sound rude, but Mormons are kind of inbred. So you start getting these mutations.

If you left the religion, and your children don't marry into it, that cuts the chance of marrying a person with the same recessive genes.

 

[rebeccalj]

Well, you notice I didn't lay out a big explanation. Just suggested a study course.

And I fear this may sound rude, but Mormons are kind of inbred. So you start getting these mutations.

If you left the religion, and your children don't marry into it, that cuts the chance of marrying a person with the same recessive genes.

That is actually interesting because oldest daughter married Mormon. She also believes 2nd daughter is HoH.

 

[Bottesini]

That is actually interesting because oldest daughter married Mormon. She also believes 2nd daughter is HoH.

:P Wow! Either my social skills are improving, or you are getting used to me!

 

[sallylou]

Closely related people are more likely to be mutants. That includes second cousins for whom it may be legal to marry. Not a good idea, even though some groups still do this. The Jewish community has more mutations because it's a more closed culture. There are certain clinics that specialize in genetic testing for the Jewish community. The Amish have been very gracious by allowing scientists to study the family mutations in their secluded community. This access gave scientists new knowledge about genetic disorders.

Recca, you can make a chart of the people with hearing loss in your family and look at the pattern. If hearing loss runs down generations, it's probably dominant. Any gaps may be because of reduced penentrance.

A geneticist would try to diagnose a syndrome based on the physical characteristics of the family. Geneticists look at each system of the body for clues. Lots of manifestations like:

*craniofacial differences--cleft palate spectrum, high arched palate, ear tags or pits, position and shape of eyes, forehead, asymetric features, craniosyntosis, etc.

*hypermobility or joints that don't move

*Minor congential defects--epibulbar dermoid, fused vertebrae, urogential abnormality (hypsodias, duplicated urinary organs, unusually shaped kidneys, etc.)

*Eye issues--myopia, keratisis, etc.

*Immune dysfunction issues--chronic infections, abnormal blood counts, antibodies, allergies, etc.

*Skin issues--birthmarks, freckles, hyperpigmetation, hypopigmentation etc. (cochleas contains melatin which is also in skin)

*Bone issues--fused bones, erosion, deposits, overly dense, osteoperosis, etc.

*Psychiatric/mental health issues--mental illness, stereotypical behaviors, affect, etc.

You need information about as many family members as possible.

Did I mention that it's expensive? FISH for one chromosome segment is about $8,000. Microdeletion analysis is more. How many segments am I going to test? If one test is negative, do I test for another one? Some genes are only tested in a certain lab in another country. You'd need a geneticist to coordinate the testing. Some genes analysis is only available on a clinical basis, so you'd need to get into a study to get tested. If you get in a study, you have to pay for transportation to get whereever the study takes place (and possibily for lodging while there).

You can go get tested for connexin 26 which it the most common gene defect that causes hearing loss in the U.S. This testing is fairly standard. Maybe you will get lucky and you'll have that. If there are other manifestations besides hearing loss, it's unlikely that connexin 26 is the problem. Did I mention that there are many connexins (gap junction proteins)? Which ones and how many do I test?

I'm not trying to discourage you. If I could find someone who could determine with relative certainty what genetic mutation my family has, I'd be willing to get tested for a couple of candidate genes. What would be helpful, and is not currently available, would be a full chromosomal sequencing and comparison. The technology of genetic testing is changing rapidly and I would not be surprised if that were available in a decade or two.

Gally has a list of the most common syndromes on its website. You might want to take a look at it. I'm told that the genetic clinic is not available because of lack of funding. Sucks! This might be a good instance for medical tourism. If anyone knows about medical tourism for genetics, please post information.

 

[deafskeptic]

8k for genetic testing? That's too much!

 

[sallylou]

Testing is not very advanced or routine. Usually, doctors don't refer a patient to a geneticist unless the patient is mentally deficient or has many serious birth defects.

Often, a syndrome causing mutation exists in a family but is not diagnosed until a child is born more severely affected. It's the possibility of a more severely affected child that worries me. I've been more affected by the mutation than other family members. It's possible that a child could be born with life threatening medical issues (like an organ defect).

 

[deafskeptic]

Testing is not very advanced or routine. Usually, doctors don't refer a patient to a geneticist unless the patient is mentally deficient or has many serious birth defects.

Often, a syndrome causing mutation exists in a family but is not diagnosed until a child is born more severely affected. It's the possibility of a more severely affected child that worries me. I've been more affected by the mutation than other family members. It's possible that a child could be born with life threatening medical issues (like an organ defect).

Let's hope htat never happens to you or you kids.

 

[sallylou]

Thanks DS. They are affected but not as much as me. For that, I'm grateful.

 

[Anij]

Sallylou - testing procedures and costs vary greatly from country to country. Rebbeccalj is in Canada, where most routine genetic testing for hearing loss is covered (largely or entirely) by a combination of the Canadian and Provincial health care (which isn't "free" like some people think - we Canadians pay for it using monies collected from various taxes). The specifics vary from province to province, however generally speaking these tests are covered under our healthcare system, provided of course there are "medically valid" reasons for doing the genetic testing (which would almost certainly include determining if the hearing loss gene was being passed on to a child from their parent(s), if for no other reason, so that the child would be followed extra closely and have access to D/Hoh services if/as soon as any amount of hearing loss is detected.)

 

[sallylou]

I forgot that Rebecca is in Canada. I was refering to prices in U.S. Unfortunately, our medical insurance offers very little coverage. I call it get-hit-by-a-bus insurance. I have a $5,000 deductible and insuance never pays the full amount. Sucks to be me. lol Any possibilty for medical tourism in Canada? My nurse friend suggested medical tourism. Another barrier is that a genetic test in my medical records will make me uninsurable. Any legal protection that exists is, as a practical matter, unenforceable. There is no statute that applies to life insurance, and I need it because I have kids.

 

[rivenoak]

Sallylou, thank you for that synopsis of genetic testing.

Because I never pursued it past one call to the hospital, I didn't realize it wasn't comprehensive. Or that it was so expensive.

It would be interesting to know why DS has a hearing loss. And if mine (newly diagnosed and small) is related. But, we can wait until the testing is better and cheaper.

 

[posts from hell]

I'm not in favor of genetic testing. If you guys do, make sure you sign papers limiting them to use it for just the purpose you want, instead of an open test where they will tell you results, and use it for research in solving deafness and other things.

 

[rebeccalj]

Sallylou, thank you for that synopsis of genetic testing.

Because I never pursued it past one call to the hospital, I didn't realize it wasn't comprehensive. Or that it was so expensive.

It would be interesting to know why DS has a hearing loss. And if mine (newly diagnosed and small) is related. But, we can wait until the testing is better and cheaper.

I did not know you also start hearing loss. But suppose related genetics to son.