Mothers of a child with a genetic disorder

amother

↑ Chartreuse ↓

Sun, Nov 17 2024, 8:10 pm

amother Lavender wrote:

Were they testing for the actual disease or to see if they were an unaffected carrier?

If they are a carrier.

amother

Ruby

Sun, Nov 17 2024, 8:34 pm

amother Feverfew wrote:

I can relate to every word you said. In our case we did genetic testing on 1 child for something pretty random and found he's a carrier for something (that only takes one of the parents to give over). So we tested me and my husband and low and behold I also have the genetic mutation. My husband is a tzaddik (or naive) and didn't make a big deal. It's almost better that I am the carrier because I don't think I would have been so OK with it, not that we had any prior knowledge to even suspect it!) The carrier is not affected it could potentially affect the offspring though. Then we preceded to check the rest of the kids. I regret it. I now know my other kids that carry it. I wish we would have asked a shaila. I'm not sure what they would have said. I did ask if I should tell my siblings so they can check because it's likely someone else is a carrier too and I was told no. And based on that I really wonder what I would have been told if I asked if I need to check my other kids. I have not been able to bring myself to ask because the guilt would be awful if I tested them for nothing.
I have not told my kids yet. I need to speak to a rav first when they are ready for shidduchim, but I think now that I know I might need to tell them. I think before I knew, it was less of relying on a miracle, although even as a carrier the chance is not that high of passing on. It's equal to a 40-45 year old having a child with a genetic disorder, many have children at that age , so I will see what the psak is but I am preparing myself for possibly needing to go through a special shadchan to pair up with someone else who also needs IVF. I keep telling myself Hashems makes shidduchim and all I can do at this point is daven and rely on Hashem. And obviously get hadracha when the time comes which is approaching fast and I'm not ready! And I also feel horrible for my kids for the time when I have to tell them , how will they react? Will they keep it a secret? Will they be depressed? Other than the Drs that ran the tests and my dh obviously, no one knows. It's a burden for sure.

This post sounds so similar to my story. I did genetic testing for no reason at all, my dr recommended during pregnancy and I had no idea it was not supposed to be done. I too am a carrier for something that needs only one of us for it to be passed down. BH my children are healthy but I don't know if they carry that gene or not. I will be testing them when they get older. And iyH future children will be born through ivf which makes me incredibly sad and scared.
I did want to share one thought regarding shidduchim. I've thought long and hard about all this every single day since I found out. Shidduchim scared me a lot. How do you tell a regular child who does all the right things that now they need to go marry someone they never thought they would because of a genetic premutation. I've come to think of it differently (and still need to work on this daily!) If a child does in fact turn out to be a carrier, that doesn't mean that their zivug now went from person A to person B. It was meant to be person A all along. The only way they would be able to meet person A is through the fact that they carry this gene. Their person was always going to be their person, they aren't getting anything different than what was meant for them.
Hope that makes sense Smile

Davening for us all!!

amother

↑ OP

Sun, Nov 17 2024, 8:39 pm

amother Chartreuse wrote:

If they are a carrier.

If it's autosominal dominant, there's no such thing as a carrier. Only that they are not currently showing symptoms, or that it's not applicable to them (for example, only affects boys and they're a girl). At least that's my understanding.

A carrier means you need two copies to have the disorder and they only have one. That would not affect their children unless they also marry someone carrying the same issue.

amother

↑ Feverfew ↓

Mon, Nov 18 2024, 1:30 am

amother OP wrote:

I dont think so. Unless I'm not using the correct terms. But in our familys issue it is a chromosome issue . The "carrier" is 100% healthy but can pass down an issue to a child ,. with no help needed from a second copy from the spouse. And also is not just limited to x or y genes.

amother

↑ Feverfew

Mon, Nov 18 2024, 1:30 am

amother Ruby wrote:

Davening for us all!!

Thank you for sharing that thought. It's beautiful!

amother

Vermilion ↓

Mon, Nov 18 2024, 2:40 am

amother Lemon wrote:

how can I contact goldie turner for the dartabase?

yes its a very lonely journey. I can relate

https://www.beineinu.org/medic.....g[0]=

amother

↑ Vermilion ↓

Mon, Nov 18 2024, 2:42 am

amother Mintgreen wrote:

You seem to have a lot of confusion. Once you have clarity you will calm down. Get yourself and your husband tested so you know for sure what you are dealing with.

Call dor yesharim they can help you. They will keep your info and when a shidduch comes along (if it’s hereditary) they will run the test. The chances are low that your children will be incompatible. It’s a real bracha that we have all this science in our generation.

An excellent contact at Dor Yeshorim is Rabbi Scher: 718-384-6060 x 110.
Amazingly helpful and caring.

amother

↑ Vermilion

Mon, Nov 18 2024, 2:43 am

Toughest thing is that I'm in shidduchim with this child now and we feel totally lost.

amother

Jasmine

Mon, Nov 18 2024, 5:54 am

Do you have a siblings or a first cousin you could share with? I kept a secret from the whole world but swore one of mine and my husband's sibling to confidentiality. Hopefully it will stay a family secret. If I spread it to my parents or in laws the whole world will know. This way I have some close understanding relatives that gave nothing by sharing.

amother

DarkGreen

Mon, Nov 18 2024, 9:28 am

amother Feverfew wrote:

How’s that possible?

amother

Azalea ↓

Mon, Nov 18 2024, 9:40 am

amother Vermilion wrote:

Toughest thing is that I'm in shidduchim with this child now and we feel totally lost.

Big hug. Don't know if it helps you but my child has a medical condition that runs in DH's family, but not something you test genetic markers for....it's just there, a percentage. My child got married this past summer to a wonderful person, shidduch was made thru Kesher Networks Shadchan.

amother

↑ Azalea

Mon, Nov 18 2024, 9:43 am

amother Ruby wrote:

Davening for us all!!

Yes I think of this. My child married someone from slightly different background than us - not tremendously, but without this child never would have considered this shidduch. But this is child's basherte. It's what Hashem planned for child, from the outset, and all experiences since then was to lead our child to basherte.

amother

Cappuccino

Mon, Nov 18 2024, 9:59 am

I’m actually taking my child for genetic testing. Appointment is in March, and frankly, I’m terrified of what we might find. I’m also hopeful that we might find answers. And hopeful that if we have answers, we can have a clearer path forward, maybe some direction, and potentially, access to services that I’m being denied now.

We discussed with my Rav. The topic of shidduchim came up. And honestly, my Rav is of the opinion that we’re testing for a reason. My child was born with a random set of minor medical issues that all seemed to be unrelated. And by age 2-4, they all resolved themselves either via minor surgical procedures or with therapy. DC is 8 now and in a mainstream school, but definitely has an overall processing issue. All therapists say is ‘interesting! I’ve never seen a child like this!’. Well, that’s lovely. I’m so happy to hear.
So bottom line, if I don’t get my child the proper guidance, shidduchim will be an issue regardless. And if I don’t get a diagnosis, do I have to disclose birth issues from ages ago? So with all this, a diagnosis might just help. Might also shatter me. I don’t know. But bottom line, shidduchim shouldn’t be a factor for testing or not.

In the interim, I also need to take this child for a better neuro-psych evaluation. Last 2
Psychologists just told us that it’s so interesting, they never tested a child with such inconsistent results. Child’s neurologist told us good news, no epilepsy. Bad news? Brain seems to be mildly abnormal based on eeg. But can also be normal enough cuz it’s a child’s brain that’s still developing. Sorry, I can’t help more. Lovely. Every ‘excellent’ neuro-psych either has a one year wait time, or charges upwards of 5k.
Rant over. Thanks for listening.

amother

↑ Chocolate

Thu, Nov 21 2024, 2:48 pm

I was recently informed about a machine, using energy work that can fix mutated genes. Doctors are saying there's nothing to do for NF1, so I'm starting to think about following this energetic path... The machine reportedly processes all the person's genes, and corrects mutations. This was told to me by an alternative medicine practitioner. Has anyone ever heard of this??

amother

↑ Chartreuse

Thu, Nov 21 2024, 2:53 pm

amother Chocolate wrote:

No. Never heard of it.
This is what …..
Nf1 isn’t curable I wish it was.

amother

↑ Lavender

Thu, Nov 21 2024, 2:56 pm

amother Chocolate wrote:

I'm very pro alternative medicine but as a parent of a child with a genetic disorder this sounds extremely scammy.

Are you on Facebook? Have you connected with any other parents of children with this disorder?

Aurora

Thu, Nov 21 2024, 3:09 pm

amother Chocolate wrote:

Only as the plot of a science fiction novel, or low-budget movie.