My daughter failed the CF portion of her newborn screening and had to have the definitive test at 1 month old. It completely devastated to me to think that my child could have a fatal disease. Thankfully, she is just a carrier. My husband is also a carrier. There is a very small chance I could have a non standard gene that doesn't show up in testing, and I will look into that further before trying to get pregnant again. If we both have the genes we will do IVF, but we have the insurance and the means to make that happen .
I know a family that has HD and they stopped after one child because of it. I don't know if the pregnancy was planned or what, but they adopted 3 or 4 kids after. The grandmother died of HD in her 80s and the son is positive but last I saw him a couple years ago in his late 50s, he wasn't showing symptoms. I don't know the status of the grandson, now in his mid 20s. FWIW they are very wealthy and can afford the best and experimental treatments, although not sure if that's had any impact.
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.
I don't think the 23 and me kits show you disease likelihood anymore. The FDA put the kaibosh on that a year or so ago.
I did the test in 2009ish and could view my risk assessment online, up until this verdict. Now it's all gone.
Did this get reversed?
@wandering
ETA: It's back! I had no idea! Thanks for prompting me to check. Strange...I got a million emails from them when the FDA was pulling the rug out from underneath them. I wonder why they didn't do the same when it was brought back?
Again I am reminded of what I've always known: I will eventually kick the bucket because of a heart attack.
We had genetic counseling before trying to get pregnant because I am a carrier for a disease that can cause serious quality of life issues and in some cases be deadly. It was not an issue because H is not a carrier and Henry didn't even end up getting the trait. If H had been a carrier, there was a 1/4 chance of our child having the disease and that would have been too high for me, personally.
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.
Seriously, my heart is breaking for them. I have a cousin with MLD. His is not infantile, he was 19 at diagnosis. He was their oldest and thankfully their other 2 children do not have it. He received a bone marrow transplant from his sister. It isn't a cure, and it won't reverse the dimentia-like damage he already has, but thankfully for now he is healthy. When reading in to it, reading the stories of kids with it was just awful. I already had two kids when he was diagnosed and have not been tested to see if I am a carrier yet. My two youngest cousins were found to be carriers. My mom is going to be tested because if she isn't a carrier I can't be and the kids are safe. If I hadn't had kids already, I would have absolutely been tested. I hate that anyone has to make a decision like that.
I do also have a friend who has a child with a disorder that is 100% fatal. She was pregnant when he was diagnosed. They have decided to have no more children though she would like a boatload of them.
I think everybody jumping to, "I'd adopt" hasn't really looked into adopting. It's a hard, long, expensive process that isn't going to be made any easier by one parent having a fatal disorder.
I posted something similar. We were ruled out by agency after agency based on our religion, me having an auto immune disease, and H having significant hearing loss. We had a better chance going through the UF route, which we did and fortunately after $$$$ I was able to have a baby.
This is exactly why I got tested. The "not knowing" was interfering with my life. It got to the point where I was happier if I knew I had it for sure.
lizard please feel free to PM me if you need support in your decision. I know how hard it is. There really is no right or wrong decision for you now. But if you need someone to talk to, feel free to connect.
May I just ask--did you have to go through a university or were you able to have your primary doc order a test? Because the two docs I've seen have no idea, ha.
My H's PCP was able to order a test, after he did some research to figure out how to.
I think everybody jumping to, "I'd adopt" hasn't really looked into adopting. It's a hard, long, expensive process that isn't going to be made any easier by one parent having a fatal disorder.
I posted something similar. We were ruled out by agency after agency based on our religion, me having an auto immune disease, and H having significant hearing loss. We had a better chance going through the UF route, which we did and fortunately after $$$$ I was able to have a baby.
I honestly did not know you could be ruled out due to religion That's really sad. Is there a list of "acceptable" religions?
Post by phdprocrastinator on Mar 6, 2015 0:36:21 GMT -5
DH's mother passed from CJD, the human form of mad cow. 13% of cases are caused by a genetic component. As we waited for the results of the autopsy to learn if she'd had the genetic version, DH and I discussed it and agreed that we'd need genetic counseling before TTC. Also, if there was even a 10% chance of paying the gene on, he would have a vasectomy.
So, yeah, knowing there would be a 50% chance of passing on a disease like HD... No way.
I'm dealing with this right now. We found out last August that my mom has huntington's. It came as a complete shock as we know no other carriers in the family. I had a 1 month old at the time and took it very hard. I already have 3 children and we just found out. My brother has 2 children and planned on having more. Neither of us have been tested yet, we are still figuring out our options.
My mom is turning 60 this month and started showing symptoms about 2 years ago. But she was misdiagnosed and we had no idea it was HD. Because of her misdiagnosis and then very unexpected actual diagnosis she had no preparation. Now she is struggling to find necessary things like long term health insurance and other benefits. So I haven't begun the process of even attempting to be tested because most of my time is spent helping her get on disability and other issues. She is showing very slow progression and only tested right above the positive range so that is a plus. But I struggle a lot with worrying about what I would have done if I had known in advance before I had my kids. And how I will deal with testing. I over evaluate every little thing now. If I test positive, will it be worse than not knowing at this point? I know no one dealing with this so I'm actually pleased this was brought up and I can maybe find some others dealing with the same issues.
My DH and I did PGD to avoid passing CF to our children. My mutation is rare, and the GC thought it was likely to be mild, but there was no way we would willingly do that to a child. (Maybe mild, but expose a baby to the bacteria my DH has harbored for a lifetime and are super resistant? One way ticket to a worsening disease)
We had a 50% chance since he has CF himself, rolling the dice was not an option.
I'm not going to watch my children get sick with an illness I knew about and could have prevented.
I posted something similar. We were ruled out by agency after agency based on our religion, me having an auto immune disease, and H having significant hearing loss. We had a better chance going through the UF route, which we did and fortunately after $$$$ I was able to have a baby.
I honestly did not know you could be ruled out due to religion That's really sad. Is there a list of "acceptable" religions?
Many adoption agencies national and international are Christian based and even if we agreed that we would raise a child in that religion they still said we would be ruled out.
I honestly did not know you could be ruled out due to religion That's really sad. Is there a list of "acceptable" religions?
Many adoption agencies national and international are Christian based and even if we agreed that we would raise a child in that religion they still said we would be ruled out.
Damn
I never thought about Jewish, Muslim, atheist, etc families having such difficulty to adopt.
My old ob did testing before pregnancy (why, I have no clue) and I have the CF gene. We then had DH tested. Had he been a carrier, we may have looked into adoption or IVF, but thankfully we didn't have to make that decision.