My dad was diagnosed with Spinocerebellar Ataxia nineteen years ago. My husband and I would like to have a child but we just found out that the Ataxia is genetic. I am afraid that I will pass the gene to any child or children we might have. I read that I have a 25-50% chance of doing so, depending on whether I have the gene or not. I would like to get tested, but the only thing that is holding me back is the fear of being discriminated against by insurance companies (life, long term care, health etc.) Does anyone know of a way to get tested in a confidential way so that it is never put in my medical records? I know that fertility doctors can test embryos and pick the ones without the ataxia gene; however, that would go against my religious beliefs.
I was happy to find this group because it will be nice to gain support and learn more about my dad’s illness so that I can give him the best help and support possible. I hope everyone is having a great weekend! Thank you in advance for any help you can provide!
That is a good question about insurance problems. I would rather have that than know I am passing on Ataxia to an unborn child. Talk with your Dad's neurologist. Testing which I have used twice (2002 & 2013) was by Athena Diagnostics. I have sporadic Ataxia. In 2002 I was informed that it would not be passed to my two daughters in their 20's. In 2013 the tests which have found many more varieties of Ataxia, I was told that their is a possibility of my daughters having some form and also pass it to their children. I tested in 2002 because both daughters were ready to start families.
Thank you for your response! My dad has been declining over the years and it has been very hard to see all that he goes through. I would feel guilty if I passed it on especially since I know it’s hereditary. Years ago my dad was tested and told it was not hereditary but since new types have been found he was recently retested and was found to have SCA17. Since he needs round the clock care having long term care insurance would have been very helpful. Is there a way to get tested without using insurance so if it comes back positive that information won’t be entered into any of my medical files? I have been reading about genetic testing and it seems like most people say it’s best not to know.
maybe get the coverage first before you are tested. I tried for coverage after testing and the response back from them were no thanks. Also I would check the paperwork you need to fill out for approval to send your questions are asked, like family history. They also may use this information to deny you also. There is the genetic discrimination act of 2008, http://www.genome.gov/10002328
My family history includes several members with Ataxia symptoms who were never specifically diagnosed as such. I live in Virginia Beach and according to the National Registry of Medical Specialists for Ataxia (listed by state), Virginia only has four specialists. I was wondering how your dad was diagnosed and by what type of specialist. It is encouraging that his Ataxia was diagnosed 19 years ago, indicating a much longer life expectancy than I was given. As to the genetic testing, my Neurologist (a Parkinson's Specialist) discouraged genetic testing stating it would confirm the past & do little for the future. She also failed to mention the 50% chance of my children having the Ataxia gene. Since my children are grown with children of their own, my situation is quite different. Had I known about this disease when I was young with so many family members ending up in wheelchairs, I would have had the same questions as you. Hope you find the answers you are looking for.
I haven’t seen the specialist yet, but what other family have told me is that at least SCA2 doesn’t skip generations.
When my neurologist ordered the test, he wasn’t sure insurance would pay for it. He told me I could pay out of pocket if it didn’t. So it makes since to me, that if you paid out of pocket, the insurance wouldn’t have to know. Good luck. I wish I had known that I had it before i had kids.
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Ada 1918–1996 |
Mother's Day started me thinking about how this began (to my knowledge). I have Spinocerebellar Ataxia, Type 6 (SCA-6). There are many types that vary in onset, cognitive involvement, and other things that are of no interest to most people. I now know that I got the autosomal dominant gene from my mother, who unwittingly passed it along to me. Looking back, I recognize the ataxic signs began in her mid 60's--the gait, the speech, etc. After my initial diagnosis in 1997, I was angry with her for doing this to me (I didn't care that she never knew). "Come on, Ada." I thought I had just inherited her boobs, skinny legs, and smart mouth.
But she wasn't much of an information-seeker, and consequently, didn't realize she had Ataxia. Ada just thought... (actually, I have no idea what she thought). Although she and I were close, Mom went to great lengths to deny her Ataxia. She knew something was wrong, but backed away from putting clues together. Her family decided that her behavior was because she had never taken care of her health, drank too much, watched too much TV, stayed on her chaise lounge 24-7, and wanted to be catered to. My usually "snappy" mother took all of our judgements in silence. That should have tipped me off to a problem right there. As her only child, one of my saddest thoughts is that she was alone in this. Mom's self image was just too important to her and that trumped everything else. She said nothing, we said nothing. Ada died of pancreatic cancer before she progressed neurologically (she would have considered that the good news).
Children are a recurring theme and a big issue in Ataxia circles, since descendants have a 50–50 chance of carrying the gene. I think Mom became symptomatic in her 60s, me in my late 40s. The other shoe dropped when our daughter, Heidi, became symptomatic with her second pregnancy in her early 30s. Earlier onset with each generation is officially called anticipation. Our son, at 39, is asymptomatic. Our children and their spouses had their own families after my diagnosis, knowing the risk. My biological children, in-law children, and four grandchildren are supportive, aware that I may represent what they have to face in some way. Granted, I'm not the grandmother I want to be, but I can still hold the grandchildren on my lap, play on the floor, read books (sort of), give rides on Skeeter, my trike, the grocery cart, etc.
It's not rational to feel guilty (besides that, guilt is my least favorite emotion), but our children are so bright and beautiful, that I wanted anything that came from me to be perfect. It didn't happen that way. We all pass on characteristics to future generations through our genes. But, most of the time, it's blue eyes, a certain body type, or a predisposition for heart disease, etc. This felt more like a life sentence from a lottery.
So, do you test descendants for a disorder that has no cure, no treatment, and a 50% occurrence rate? The short answer is probably not, unless you want the information for planning or you just want to know. Most genetic researchers advise against testing asymptomatic children. First of all, minors are too young to give informed consent. Secondly, genetic testing is extremely expensive (a full genetic panel could exceed $5000.00) and is rarely covered by insurance in the U.S. Most importantly, children are better served by being encouraged to follow their physical interests and live their lives. If the Ataxia should manifest at some point, and they seek out information (family, physicians, support groups, websites), they'll figure out the particulars on their own.
The lesson: Nothing to be gained by anticipation (pardon the pun).
I have hereditary CSA2. My Dad had it. I had already had my son and I questioned the neuro about having him tested, She said only if he had symptoms. He is 13 and not showing any symptoms. I also have a brother that is showing no symptoms. He has chosen not to get tested. I was told that even if you are missing the gene, you can have or not have symptoms.
I don't know how life, long term care works but the health insurance in the U.S. says you can't be denied for pre-existing conditions.
Hope this helps
Hello,
Can you please share your first symptoms?
A number of my family members have been diagnosed, and I have been experiencing a lot of muscle twitching and sometimes swallow my food to fast and feels like I'm choking.
I'm afraid to get tested because I know what the future will hold.
Thank you for your time!
Mary
Thank you Jack! I'm sorry the insurance company did that to you. My parents found out about long term care insurance too late as well, and my mom has been urging us to get the coverage even though we are still young. I have seen that unforeseen things can happen to anyone regardless of their age and definitely plan to get the insurance before getting tested. Thanks for the link about the genetic discrimination act and all of the other advice! I hope you are having a happy Monday!
Jack said:
maybe get the coverage first before you are tested. I tried for coverage after testing and the response back from them were no thanks. Also I would check the paperwork you need to fill out for approval to send your questions are asked, like family history. They also may use this information to deny you also. There is the genetic discrimination act of 2008, http://www.genome.gov/10002328
Hi Cully,
My Dad was diagnosed by an ordinary Neurologist in a group practice when he started having symptoms. Back then they called it Cerebellar Syndrome and I could never find any information until they started calling it Ataxia. My parents were never happy with the care he was receiving by the Neurologist who diagnosed him. They tried changing his doctor within the same practice and it was pretty much the same. The visits were a waste of time because the doctors just looked at him, went through the motions, doing the same check up each time. They just sat that there and would say that there wasn't anything they could do and that the symptoms would only get worse. About a year ago my Dad's physical therapist suggested that he go to a movement disorder specialist in DC. His new doctor is much better. He is more knowledgeable, listens, cares, and has tried new medications, even Botox therapy for his hands.
When you mentioned life expectancy I was kind of shocked. Did your doctor mean succumbing to complications of Ataxia like pneumonia or blood clots? My dad was hospitalized because of those two issues and it took him forever to bounce back. He was never really the same after that.
Thank you for replying and for understanding my predicament! I hope you're having a great day!
Cully said:
My family history includes several members with Ataxia symptoms who were never specifically diagnosed as such. I live in Virginia Beach and according to the National Registry of Medical Specialists for Ataxia (listed by state), Virginia only has four specialists. I was wondering how your dad was diagnosed and by what type of specialist. It is encouraging that his Ataxia was diagnosed 19 years ago, indicating a much longer life expectancy than I was given. As to the genetic testing, my Neurologist (a Parkinson's Specialist) discouraged genetic testing stating it would confirm the past & do little for the future. She also failed to mention the 50% chance of my children having the Ataxia gene. Since my children are grown with children of their own, my situation is quite different. Had I known about this disease when I was young with so many family members ending up in wheelchairs, I would have had the same questions as you. Hope you find the answers you are looking for.
Hi Stephanie,
I think paying out of pocket is a great idea. I know the test can be expensive but it would be worth it to keep the results private and out of my medical files. I've been reading all the bad things (social, emotional, etc.) that can come about if the test comes back positive. The only thing that really worries me is discrimination by insurance companies. I had enough trouble getting life insurance due to medications I take for the medical issues I have now.
I wish you all the best and will pray for your health and happiness!
Stephanie said:
I haven't seen the specialist yet, but what other family have told me is that at least SCA2 doesn't skip generations.
When my neurologist ordered the test, he wasn't sure insurance would pay for it. He told me I could pay out of pocket if it didn't. So it makes since to me, that if you paid out of pocket, the insurance wouldn't have to know. Good luck. I wish I had known that I had it before i had kids.
The Happy Gardener; indeed my Neurologist listed the progression of my “genetic celebrate Ataxia”
- balance & gait issues 2. Speech impairment 3. Difficulty swallowing
- Wheelchair/unable to swallow.
I’ve had PT for balance/gait, use my IPhone to practice my speech (voice is converted to text, so I can work on those letters that are slurred).
I don’t want to be in a wheelchair & lose my independence but you can’t live without being able to swallow. My Medical Directive states no feeding tube, which has been discussed with my family.
This is not meant to be melancholy, just realistic.
Thank you schumant for sharing your story with me. Since finding out that my dad's Ataxia is genetic, my mom has said she feels guilty for having kids, and probably would never have had my sister and me if she knew then what she knows now, after seeing my dad struggling and declining over the years. Of course I think (and have told her) that she's ridiculous and that I would never blame her or my dad. They have given me a wonderful life and I'm glad to be alive. My sister told my mom years ago that she did not want to know if the Ataxia is genetic so I really can't talk to her about my worries. Before my sister became a mother the doctor told her that there would probably be a cure by the time her child would potentially start having symptoms, but 17 years later there's still no cure, but with all of the genetic research that's being done, anything is possible. :-)
Thanks again and have a wonderful day!
schumant said:
Ada 1918–1996
Mother's Day started me thinking about how this began (to my knowledge). I have Spinocerebellar Ataxia, Type 6 (SCA-6). There are many types that vary in onset, cognitive involvement, and other things that are of no interest to most people. I now know that I got the autosomal dominant gene from my mother, who unwittingly passed it along to me. Looking back, I recognize the ataxic signs began in her mid 60's--the gait, the speech, etc. After my initial diagnosis in 1997, I was angry with her for doing this to me (I didn't care that she never knew). "Come on, Ada." I thought I had just inherited her boobs, skinny legs, and smart mouth.
But she wasn't much of an information-seeker, and consequently, didn't realize she had Ataxia. Ada just thought... (actually, I have no idea what she thought). Although she and I were close, Mom went to great lengths to deny her Ataxia. She knew something was wrong, but backed away from putting clues together. Her family decided that her behavior was because she had never taken care of her health, drank too much, watched too much TV, stayed on her chaise lounge 24-7, and wanted to be catered to. My usually "snappy" mother took all of our judgements in silence. That should have tipped me off to a problem right there. As her only child, one of my saddest thoughts is that she was alone in this. Mom's self image was just too important to her and that trumped everything else. She said nothing, we said nothing. Ada died of pancreatic cancer before she progressed neurologically (she would have considered that the good news).
Children are a recurring theme and a big issue in Ataxia circles, since descendants have a 50–50 chance of carrying the gene. I think Mom became symptomatic in her 60s, me in my late 40s. The other shoe dropped when our daughter, Heidi, became symptomatic with her second pregnancy in her early 30s. Earlier onset with each generation is officially called anticipation. Our son, at 39, is asymptomatic. Our children and their spouses had their own families after my diagnosis, knowing the risk. My biological children, in-law children, and four grandchildren are supportive, aware that I may represent what they have to face in some way. Granted, I'm not the grandmother I want to be, but I can still hold the grandchildren on my lap, play on the floor, read books (sort of), give rides on Skeeter, my trike, the grocery cart, etc.
It's not rational to feel guilty (besides that, guilt is my least favorite emotion), but our children are so bright and beautiful, that I wanted anything that came from me to be perfect. It didn't happen that way. We all pass on characteristics to future generations through our genes. But, most of the time, it's blue eyes, a certain body type, or a predisposition for heart disease, etc. This felt more like a life sentence from a lottery.
So, do you test descendants for a disorder that has no cure, no treatment, and a 50% occurrence rate? The short answer is probably not, unless you want the information for planning or you just want to know. Most genetic researchers advise against testing asymptomatic children. First of all, minors are too young to give informed consent. Secondly, genetic testing is extremely expensive (a full genetic panel could exceed $5000.00) and is rarely covered by insurance in the U.S. Most importantly, children are better served by being encouraged to follow their physical interests and live their lives. If the Ataxia should manifest at some point, and they seek out information (family, physicians, support groups, websites), they'll figure out the particulars on their own.
The lesson: Nothing to be gained by anticipation (pardon the pun).
Thank you Kay for your response! I agree with you and if I had a child I would not want to get him or her tested because it wouldn't be helpful at all. If I did not want to have a child I wouldn't get tested. I thought that if I didn't have the gene I would be in the clear, so I will have to look into what you said about having the symptoms without having the gene. Thank you for letting me know! Hope you're having a nice Monday! :-)
I have hereditary CSA2. My Dad had it. I had already had my son and I questioned the neuro about having him tested, She said only if he had symptoms. He is 13 and not showing any symptoms. I also have a brother that is showing no symptoms. He has chosen not to get tested. I was told that even if you are missing the gene, you can have or not have symptoms.
I don't know how life, long term care works but the health insurance in the U.S. says you can't be denied for pre-existing conditions.
Hope this helps
Hi Mary,
I'm probably not the best person to ask about the first symptoms because my dad is the one with Ataxia. We found out not long ago that it's hereditary and I don't have any symptoms at this time. The only reason I am considering getting tested is because I would like to have a child but I'm afraid that I will pass on the Ataxia gene to a potential child. Have you spoken to a doctor about your symptoms?
I can tell you what my observations of my father have been over the years. The main thing we noticed was that he started having problems with walking and he slurred his words. Eventually he had to go on disability. When my husband and his friends first met my dad (before he and I started dating) they thought he was drunk until I told them that he had Ataxia. My dad has kept his feelings and experiences to himself and still doesn't really talk about the how he feels. Even when he was well and he was clearly ill with a fever and all, he never knew he was sick until my mom said something. My dad used to be very active, but over the years he has gone from working out and walking without assistance, to using a cane, then a walker. Now he mainly uses the walker to get back and forth to the bathroom, but for the most part we use a transport chair to get him places. His cognitive decline has gotten much worse especially during the past five years. He has a difficult time putting sentences together and recalling words. It wasn't until the past year or so that he has had difficulty eating, and swallowing to the point where he has to be helped when he eats his meals. My dad's ataxia has progressed slowly over the past 19 years but he is the same happy, patient, and loving dad that I've always known him to be.
I'm so sorry that you are having these problems. It's scary when there's something going on with your body and you're not sure what's causing it. I think speaking to a neurologist or other doctor who knows about Ataxia will help.