What documentary is this? I'm interested in watching it.
My grandma (mom's mom) passed away from HD. Her mother did also. I don't remember a time that my nanny wasn't sick with it. She was diagnosed shortly after I was born. When I was in junior high she was wheel chair bound. By high school she was bedridden. She passed away from freshman year in college.
My mom has never been tested, she's in her 50's now and has no symptoms. Sadly, her brother started showing symptoms within the last few years and was recently diagnosed. It's heartbreaking. He's single, has 2 grown daughters and 3 grandchildren. A lot of the responsibility of taking care of him (now and in the future when he can't care for himself) has fallen on my mom. I asked her the other day if his daughters had been tested. She said that C (the oldest one and the one with her own children) had looked into it, but was told she was not mentally stable enough to be tested. I guess they don't think she could handle the results if they showed she is a carrier. I had a large range of emotions when I found that out.
Back to your original question - when I was married and trying to get pregnant, I honestly didn't even consider getting tested or HD being in my family at all. Probably some denial. I'm divorced now and childless. And plan to remain childless for many reasons. Since my mom is as old as she is and hasn't shown signs, the possibility that my brother and I are carriers is impossible (from my understanding). But I will admit, it did weigh into my decision to remain childless. It's an awful, awful, awful disease. I do not believe that my brother and his wife were tested before having their first child.
Can you elaborate on this? My grandmother was diagnosed with HD in her mid 70s. My mom has not been tested yet to my knowledge but is in her late 50s and shows no signs of having it.
There is a sort of sliding scale based on the amount of CAG protein repeats in your genetic code.
Some people are carriers, but their repeat is so small that they won't show any symptoms until their 70s or some lucky ones won't show anything at all.
The higher the repeat number the earlier the onset. (I think)
My mom has more than 45 repeats. Anything over 26 is abnormal and a positive result. ETA: The only way to be fully sure is to get tested. It's hard, but at least you will know.
hdsa.org has great info about the science behind the gene.
I have a rare genetic disorder called Hereditary Hemorrhagic Telangiectasia. It isn't always a terrible disease and there is a lot of variability. My family tends to suffer quite severely. There are very real risks of stroke, death, and impaired quality of life. The disorder is autosomal dominant, so there's a 50/50 chance of passing it on.
My husband and I decided to do IVF with PGD to prevent passing it on. It was the most difficult decision we have ever made. My heart aches because I'd love a child. I'd love to try on our own. I just can't. It IS extremely expensive for us. $25k for a chance.
I completely understand the agony over the choice. I can only say that what is right for one couple may not be right for another.
I was mad at my mom briefly--why would you risk your childrens' lives? I guess you comfort yourself with thoughts of time and scientific advancements. My husband doesn't want me to worry so much. I think he doesn't understand the seriousness of HD, or maybe he's afraid for our kids lives just as I am and it's easier to detach from the reality.
This thread makes me think I should go back to Rutgers and finally be tested once and for all.
Can you elaborate on this? My grandmother was diagnosed with HD in her mid 70s. My mom has not been tested yet to my knowledge but is in her late 50s and shows no signs of having it.
There is a sort of sliding scale based on the amount of CAG protein repeats in your genetic code.
Some people are carriers, but their repeat is so small that they won't show any symptoms until their 70s or some lucky ones won't show anything at all.
The higher the repeat number the earlier the onset. (I think)
My mom has 46 Repeats. Anything over 26 is abnormal and a positive result. ETA: The only way to be fully sure is to get tested. It's hard, but at least you will know.
hdsa.org has great info about the science behind the gene.
I cant recall exactly what my grandmothers repeat was but I do remember that she was like barely over the line, it was like 1 or 2 over what constituted a positive result. I don't really know if this is a good thing or doesn't really mean much. I need to talk with my mom about it some more as she is the one who goes to all of the appointments with my grandmother and has really been the main person in charge of making decisions as far as her care goes.
Can you elaborate on this? My grandmother was diagnosed with HD in her mid 70s. My mom has not been tested yet to my knowledge but is in her late 50s and shows no signs of having it.
There is a sort of sliding scale based on the amount of CAG protein repeats in your genetic code.
Some people are carriers, but their repeat is so small that they won't show any symptoms until their 70s or some lucky ones won't show anything at all.
The higher the repeat number the earlier the onset. (I think)
My mom has 46 Repeats. Anything over 26 is abnormal and a positive result. ETA: The only way to be fully sure is to get tested. It's hard, but at least you will know.
hdsa.org has great info about the science behind the gene.
My explanation was going to be nowhere near as scientific as that! That information is very good to know.
What I meant by my comment was more that my understanding is that it doesn't skip a generation. So if my mom isn't showing signs and does not have it, it would not be passed on to us. Again, that is just my understanding. I've never talked to a doctor on that - it's been on my own research and what my mom has told me.
DH's cancer was caused by a genetic mutation that has a 50% chance of being passed on and 77% of carriers will have a tumor before age 50. That plus the fact that his cancer is incurable means we're not having any children, biological or through other methods.
Did you know this before his diagnosis?
Nope! He got tested after diagnosis because in 75% of people in their 30s with this type of cancer one of 12 genetic mutations is the cause. His dad also tested positive for it, waiting to hear his sisters results (then her two sons will be tested if she tests positive).
That side of the family has like 120 people (FIL has 7 sisters who now need to be tested). It's a total clusterfuck. DH and I were joking about how much the research people at the clinic must love us for brining them all this new data.
There is a sort of sliding scale based on the amount of CAG protein repeats in your genetic code.
Some people are carriers, but their repeat is so small that they won't show any symptoms until their 70s or some lucky ones won't show anything at all.
The higher the repeat number the earlier the onset. (I think)
My mom has 46 Repeats. Anything over 26 is abnormal and a positive result. ETA: The only way to be fully sure is to get tested. It's hard, but at least you will know.
hdsa.org has great info about the science behind the gene.
My explanation was going to be nowhere near as scientific as that! That information is very good to know.
What I meant by my comment was more that my understanding is that it doesn't skip a generation. So if my mom isn't showing signs and does not have it, it would not be passed on to us. Again, that is just my understanding. I've never talked to a doctor on that - it's been on my own research and what my mom has told me.
You're right. It doesn't skip generations.
But not showing signs doesn't necessarily mean you're not a carrier either.
The only way to know is to get tested. Which is a deeply personal and difficult choice.
I'm a CF carrier, so my husband will be tested before we try for kids. If he's a carrier, we'll adopt. I don't judge people who make a different choice, but all I had to do was see my grandmother's face when I told her I was a carrier to know that I wouldn't have kids if there was a chance. My uncle died in his early 20s and our whole family was devastated by it.
I was mad at my mom briefly--why would you risk your childrens' lives? I guess you comfort yourself with thoughts of time and scientific advancements. My husband doesn't want me to worry so much. I think he doesn't understand the seriousness of HD, or maybe he's afraid for our kids lives just as I am and it's easier to detach from the reality.
This thread makes me think I should go back to Rutgers and finally be tested once and for all.
I'm sorry that you're living with this. Speaking only for myself, I would have to know. I would want to either be able to relax and not feel that constant anxiety or prepare for the worst case scenario. Obviously there is no right or wrong decision.
This is exactly why I got tested. The "not knowing" was interfering with my life. It got to the point where I was happier if I knew I had it for sure.
lizard please feel free to PM me if you need support in your decision. I know how hard it is. There really is no right or wrong decision for you now. But if you need someone to talk to, feel free to connect.
Do you have a list of disorders that it tests? How long before your results? I'm just curious and would love to read about it.
I'm sure waiting in anticipation is the worse, hope you find out soon.
It's called 23 and me. I'm looking specifically at MFHTR. You get the raw data and then need to have a doctor review for actual results. I don't have an exact list of what it shows, but if will say it's a more commonly used test in the functional medicine spectrum. $99 OOP.
But who knows. It may end up being a waste. 6 weeks to get results so I have about 2-3 weeks left.
This pregnancy they offered me InheriGen testing. Although my disorder is not included (which wouldn't matter since we know I have it anyway and it tests the mother, not the fetus) we opted in.
It was covered by our insurance, but they screen for so many disorders we probably would have paid for it anyway if it was reasonably priced.
I feel very fortunate that I tested negative for the entire InhereGen panel. I think it's such valuable information to have.
Post by Captain Serious on Mar 5, 2015 12:01:04 GMT -5
Through my experience with adoption, I would argue that they could adopt. Single people can adopt, as can couples who wish yo have children and not pass on a disorder. The couple would have to show that they have sufficient supports in their life to continue raising the child in a safe home and that they have thought about how they would manage the emotional effects of the loss for themselves and the family of one partner dies, but they would not be excluded from being able to adopt.
I don't know anyone with HD specifically and I don't feel I am qualified to give an opinion on that. It's such a horrifying condition and I am praying for good health for all those here who have mentioned there lives have been touched by it or other genetic conditions.
We now know that my family carries the CF gene. My Grandma is convinced that she lost two brother in infancy due to the condition, but at that time it would not have been recognized or known, particularly in the rural area where she grew up.
Unfortunately it was only determined that we carry the gene after my cousin had his 2nd child who had failure to thrive and was later diagnosed with CF. Our specific gene mutation is non-standard and he would have been told he was all clear in testing. My cousin went on to have two more healthy biological children, and has been very lucky to have only passed on CF to 1 in 4 children (precisely 25%).
My Grandma was wrecked during both of their later pregnancies. She's a good God-fearing woman and she thought they were better off not taking the risk. That being said, their second child is the picture of 7 year old health these days and with modern medicine CF is not the same fatal diagnosis it was even 20 years ago.
I was tested years ago and I am not a carrier myself, although my Mom is a carrier. I'm thankful that we have these tests available to us and I'm certain my Brother and Sister will verify once they are in long term relationships. I'm not certain that I would want to know in the same way with HD.
Post by Queen Mamadala on Mar 5, 2015 12:06:42 GMT -5
I would look into adoption or donor egg/sperm.
A friend of mine lost her 5 year old daughter to MLD (most don't live past 5-6 years old when it's late infantile). Her 4th baby, second son, was diagnosed with it as well. They had testing done. He spent four or five months going through gene therapy in Italy. The treatment was able to halt disease progression. They had four more children, the last a set of triplets (natural), and their daughter tested positive for it. She just finished gene therapy last month.
So 3/8 children were affected by MLD, and one died from it before gene therapy treatment was available. I remember some people giving them flack for continuing to have kids knowing the chances of passing it on.
This is exactly why I got tested. The "not knowing" was interfering with my life. It got to the point where I was happier if I knew I had it for sure.
lizard please feel free to PM me if you need support in your decision. I know how hard it is. There really is no right or wrong decision for you now. But if you need someone to talk to, feel free to connect.
May I just ask--did you have to go through a university or were you able to have your primary doc order a test? Because the two docs I've seen have no idea, ha.
Through my experience with adoption, I would argue that they could adopt. Single people can adopt, as can couples who wish yo have children and not pass on a disorder. The couple would have to show that they have sufficient supports in their life to continue raising the child in a safe home and that they have thought about how they would manage the emotional effects of the loss for themselves and the family of one partner dies, but they would not be excluded from being able to adopt.
This is true, but it could make an already stressful, difficult process even harder and take longer to find the right situation for that family. Not a decision everyone wants to make.
Post by irene adler on Mar 5, 2015 12:10:24 GMT -5
We found out dH has a genetic condition when he was diagnosed with cancer that has a 50% chance of getting passed along. His mom and 2 uncles passed away young (29, 41, and 46) from cancers related to this.
We are still conflicted. Dh believes it's a sign that we couldn't get pregnant the year and a half we tried before he found out. I don't know how I feel.
This is exactly why I got tested. The "not knowing" was interfering with my life. It got to the point where I was happier if I knew I had it for sure.
lizard please feel free to PM me if you need support in your decision. I know how hard it is. There really is no right or wrong decision for you now. But if you need someone to talk to, feel free to connect.
May I just ask--did you have to go through a university or were you able to have your primary doc order a test? Because the two docs I've seen have no idea, ha.
I didn't go through a university since we didn't live near one. But I did need a referral to see a neurologist. He took my family history and ordered the test. Then it was going in for blood work and waiting. I was also in counseling during that time.
The Huntington's Disease Society of America (hdsa.org) has better information about how to approach testing, and what it would look like.
Through my experience with adoption, I would argue that they could adopt. Single people can adopt, as can couples who wish yo have children and not pass on a disorder. The couple would have to show that they have sufficient supports in their life to continue raising the child in a safe home and that they have thought about how they would manage the emotional effects of the loss for themselves and the family of one partner dies, but they would not be excluded from being able to adopt.
This is true, but it could make an already stressful, difficult process even harder and take longer to find the right situation for that family. Not a decision everyone wants to make.
Absolutely. And I already said it should be the individual's/couple's choice. But the question here as I understood it was "what would you do," not "what should someone in this situation do?"
If you want to address how flippant people can be when suggesting adoption to individuals/couples who want children and are having difficulties, that's another discussion entirely.
Do you have a list of disorders that it tests? How long before your results? I'm just curious and would love to read about it.
I'm sure waiting in anticipation is the worse, hope you find out soon.
It's called 23 and me. I'm looking specifically at MFHTR. You get the raw data and then need to have a doctor review for actual results. I don't have an exact list of what it shows, but if will say it's a more commonly used test in the functional medicine spectrum. $99 OOP.
But who knows. It may end up being a waste. 6 weeks to get results so I have about 2-3 weeks left.
DH had this test for MTHFR after his stroke. You can upload the results to geneticgenie.com and find out the results without a doctor (obviously still go over it with a doctor, just saying you can see the results beforehand). I did mine too and I am double positive for MTHFR also. We now take methyl-folate every day per doctor's orders. I made my parents get it done, too, since the geneticgenie site shows how you metabolize medicine and if they're ever hospitalized I can make sure whatever drugs they're given are ones they can metabolize. There's even a hospital in NJ that had a radio ad yesterday about prescribing drugs based on a patient's genetics. Fascinating stuff (to me at least).
This is difficult. A very good friend's daughter was engaged to a guy whose dad had Huntington's and this issue largely lead to the demise of the engagement. The daughter wanted her fiancee to be tested to see if he had the gene and he flat out refused, he didn't want to know if he was going to get sick (he was in his early 20s). Daughter refused to have any children whatsoever as a response. She told me she could handle the loss of her husband, but would not be able to handle the loss of her child if there was anything she could do to prevent it. From what I gathered from speaking to my friend, this was unacceptable to the fiancee, he was willing to take any sort of chance, regardless of who was going to be left holding the ball at the end. The engagement ended.
I would adopt, or use a sperm/egg donor. I would not have a biological child if I knew that either my spouse or I had Huntingtons. No fucking way.
Yup. I think it's irresponsible tbh. And, except for the horrors of Huntington or actually having the disease, this is what we live w CF genetics. I couldn't imagine knowingly bringing a child into the world with a deadly disease. I edited that line out b/c I read further. It's a complicated issue for sure.
I think accidental pregnancies complicate matters. For us I have no idea what we'd do beyond the prenatal testing again. But that whole thing was traumatic. I'm glad though that we know the boys' status so they can go into having kids more clear eyed and my sister actually got tested too.
There IS a way to use IVF to ensure that the implanted embryo does NOT carry the HD gene. It isn't cheap, but it is doable, so it is possible to have biological children and not pass along the disease.
Post by ninjabridemom on Mar 5, 2015 14:01:53 GMT -5
I'll also say: I know a couple who carry cf and have twin girls w cf. Their case is very mild, only digestive, and they decided to have another kid w the guidance of a geneticist. No pgd.
Our specific genes are delta f 508 which is most common and causes most severe symptoms, both digestive and respiratory. We met w a cf doctor at the local clinic and that helped us with our decision not to have any more bio kids.
I haven't read through all the posts, but I was in this situation. My grandmother died of HD at age 72 (extremely old for HD, but she was symptomatic since age 45). DH and I met with a genetic counselor and went through our options. I decided to get tested myself (a long and complicated process. My mom hasn't been tested and doesn't want to be, so maaajor privacy issues there). We we weren't sure what we would do if I tested positive in terms of kids. Luckily, I tested negative. But my cousin, who is also at risk, recently had her first baby and decided to "roll the dice". My brother has decided not to test for now, and likely won't have any kids. It is such a personal decision with absolutely no right answers. If you have any specific questions I would be happy to answer. I won't be back online for a few hours though.
Post by karmasabiotch on Mar 5, 2015 17:15:05 GMT -5
Since I'm Jewish and from Eastern European decent and was marrying someone who had the same background, I got tested for Tay-Sachs disease. I wouldn't have gone forward trying to get pg if both of us were carriers. I feel like it's a similar situation with Huntington's. I would probably would have had IVF with genetic testing since most adoption agencies ruled us out due to age, religion, my auto immune disease and H's hearing loss.
I have a lot of feelings about this. Partially because these conversations make me feel like we're judging the value of the lives of people with genetic disorders and saying their lives are not worth living. Because really, in a lot of ways that's what this discussion is about.
That said, I chose not to have children because of the genetic disorders in my family. But in a lot of ways that choice was about me, not potential children. I don't feel that I could physically raise a child the way I would want to, and if my kids tested positive I don't think I could deal with that.