Mothers of a child with a genetic disorder

amother

↑ OP ↓

Thu, May 04 2023, 7:20 pm

anony wrote:

Is there something keeping you from sharing with other people? Maybe it would help you feel better if you unload? Is this internal pressure (you don’t feel comfortable sharing) or because of some other reason? (Either is valid, just wondering if there’s a way to help ease your burden).

I can only speak for myself, but the challenge of our genetic disorder is that it’s spread throughout my extended family. It’s not my secret to share. The stigma is horrendous.

↑ anony

Thu, May 04 2023, 7:23 pm

amother OP wrote:

I can only speak for myself, but the challenge of our genetic disorder is that it’s spread throughout my extended family. It’s not my secret to share. The stigma is horrendous.

That’s a big burden to carry. Is there a way to share about your child and not share about your family? If people ask if you know someone in your family who has it you can say something like “yes one of my distant family members has it” or just tell them you’re not interested in discussing?”

I know these things are complicated so I’m no way trying to minimize the challenge. I hope that you can find someone (even if it’s a professional?) irl to talk to and unload with.

Wishing you much hatzlacha and clarity and strength

amother

Eggshell ↓

Thu, May 04 2023, 8:05 pm

I have a child with a very rare genetic disorder.
It is de novo (not inherited)
I feel you, it is very isolating.
I never know if I should tell people or not.

amother

Smokey

Thu, May 04 2023, 8:55 pm

amother Taupe wrote:

I think I know someone with this diagnosis
I can try to find out.
A good resource is Goldie turner- she has a database of people with rare diseases. She may have a match.
You can also email twacholder@agudah.org. She may be able to help too

What is Goldie Turner's contact info

amother

Wheat

Thu, May 04 2023, 9:14 pm

amother Eggshell wrote:

I have a child with a very rare genetic disorder.
It is de novo (not inherited)
I feel you, it is very isolating.
I never know if I should tell people or not.

Dealing with a disorder can be hard enough. Why compound the difficulty by keeping a secret? You don't have to shout it from the rooftops, but there's nothing to be ashamed about.

amother

Chambray

Thu, May 04 2023, 9:19 pm

amother Smokey wrote:

What is Goldie Turner's contact info

https://beineinu.org/

She's an amazing person with a lot of knowledge of resources for families with a special needs child.

amother

↑ Eggshell ↓

Thu, May 04 2023, 9:24 pm

amother Wheat wrote:

Dealing with a disorder can be hard enough. Why compound the difficulty by keeping a secret? You don't have to shout it from the rooftops, but there's nothing to be ashamed about.

It isn’t a secret at all! My family and friends all know. It’s more like random people who I meet. Like they’ll wonder why she is in a special Ed preschool but I don’t feel like going around all day explaining to every acquaintance.
And a lot of times when I do tell people they respond awkwardly and don’t know what to say so I would rather just not say

amother

Firethorn

Thu, May 04 2023, 10:27 pm

Thanks so much for starting this thread! I am also part of this 'club' and it can feel so lonely because very few people know about my child's diagnosis. My child has very rare genetic disorder - thankfully relatively mild. BH, she is the only one affected meaning none of my other children have any higher risk of having a child with this disorder than any other person in the world. Every step of bringing her up is filled with unknowns and I literally take one day at a time with her because there is so little known about this condition that I really don't know what to expect. She is BH exceeding expectations that were given when she was born so I am very grateful for that.

amother

↑ Eggshell ↓

Fri, May 05 2023, 4:39 am

amother Firethorn wrote:

Same!! Bh my daughter is also exceeding the expectations that we were given. We have such limited information and we don’t have any idea what to expect.

amother

Winterberry

Fri, May 05 2023, 4:44 am

With you too, I'm on a WhatsApp support group with other people suffering from the same condition as my son. You may get support here if you tell what it is. If/when you're ready.
And a big tip, don't Google! I was a wreck after my son's diagnoses (actually it was after they strongly suspected it) but it didn't help to Google because every case/child is different!
Hatzolocho and hugs

amother

Chicory ↓

Fri, May 05 2023, 4:59 am

Me. I have afaik 3
I gave it to them obvs unknowingly.
The guilt is crushing.
It’s an extremely obscure disorder.
Bh two are doing great.
The guilt is overwhelming overpowering
And yes it’s a very lonely journey
One of mine is newly married

amother

↑ Chicory ↓

Fri, May 05 2023, 9:11 am

amother Offwhite wrote:

Can I ask how did you discover your child had a genetic disorder?

Sure ! One kids wasn’t developing right but we couldn’t put our finger on what it was, we saw every specialist in the hospital
Ending with genetics…

amother

↑ OP ↓

Fri, May 05 2023, 9:30 am

amother Viola wrote:

please dont answer I come across as insensitive.

how are these disorders so hidden? that no-one can see?

How would anyone know? Unless the kid walks around wearing a t-shirt that says I have XYZ disorder?

amother

↑ Caramel ↓

Fri, May 05 2023, 9:34 am

amother Viola wrote:

please dont answer I come across as insensitive.

how are these disorders so hidden? that no-one can see?

Besides for the limbs, skin, and face, almost nothing about the human body is visible to the human eye.

amother

↑ Lavender ↓

Fri, May 05 2023, 9:36 am

amother Viola wrote:

please dont answer I come across as insensitive.

how are these disorders so hidden? that no-one can see?

Ours doesn't affect any outward features nor development or behavior.

amother

↑ Viola

Fri, May 05 2023, 9:53 am

amother Lavender wrote:

Ours doesn't affect any outward features nor development or behavior.

so how do you ever find out? seems like no symptoms.

can it be lets say a breathing problem?

amother

↑ Offwhite

Fri, May 05 2023, 9:55 am

amother Lavender wrote:

Ours doesn't affect any outward features nor development or behavior.

How did you find out? I’m sorry if it’s not ok to ask.

amother

↑ Lavender ↓

Fri, May 05 2023, 9:58 am

amother Offwhite wrote:

How did you find out? I’m sorry if it’s not ok to ask.

Standard blood test + family history
But symptoms would have showed up sooner or later if not for that blood test.
People would never guess now because they had treatment that technically "cured" them but they still carry the gene and the treatment also has long term effects. And this history has effects on our family beyond just the immediate symptoms.