🦓🦓🦓It’s Rare disease day!🦓🦓🦓 new question 11/6 post

Nurse1234

Tue, Feb 28 2023, 6:15 pm

Where does everyone find information about the diseases? I’ve found doctors to know very little. The only thing useful I’ve found so far is Facebook groups.

CDC is a good resource, Medline has articles at times. Sometimes depending on the disease there are organizations that exists like diabetes has American Diabetic Association.

amother

Seafoam

Tue, Feb 28 2023, 6:53 pm

Hi! I have a child with a mitochondrial disorder officially only 300 cases diagnosed but I believe there are many more undiagnosed.

newmother

Tue, Feb 28 2023, 7:02 pm

https://hwofhope.org/
Not sure if people are aware of this organization but I have heard from friends who have a rare disease it was a huge help

amother

Tue, Feb 28 2023, 7:07 pm

Thank you all for coming to say hi!
May Hashem give us all yeshuas and refuas!

❤️❤️❤️❤️❤️❤️❤️❤️❤️❤️❤️❤️❤️❤️❤️❤️

amother

Tue, Feb 28 2023, 7:11 pm

Nurse1234 wrote:

CDC and medline mostly don’t have information on rare diseases. As another poster mentioned NORD- they have on some diagnosis, but nothing to minimal on many others...

And yes, fb is the place to go. Obviously not helpful for the super rate1 or 2 in the entire world diagnosis... but helpful to those of us in the other rare category... that’s the place you get more information than the treating doctors and come armed with ideas and treatment suggestions.

amother

Tue, Feb 28 2023, 7:13 pm

amother Burgundy wrote:

I got a diagnosis for my child’s Rare disease because of a post on imamother! A nice imamother was spreading awareness a newly discovered genetic condition called slc1a4 deficiency.
This year there is a reason to celebrate because for yesharim finally added it to the regular panel!

wow! This is truly awesome!
Goes to show how helpful it is to spread awareness!

amother

Periwinkle

Tue, Feb 28 2023, 7:14 pm

Not a disease but a rare medical condition. One in a million live births. Bilateral testicular torsion in utero. Yay us . No one to even talk to.

amother

Dimgray

Tue, Feb 28 2023, 7:16 pm

I'm a genetic counselor. We recognized Rare Disease Day at work today.
Kudos to all the devoted mothers! May everyone who needs a refua have one.

amother

Tue, Feb 28 2023, 7:25 pm

amother Dimgray wrote:

I'm a genetic counselor. We recognized Rare Disease Day at work today.
Kudos to all the devoted mothers! May everyone who needs a refua have one.

That’s a very cool job!!

amother

Jade

Tue, Feb 28 2023, 7:28 pm

amother OP wrote:

There was another organization- I think it was GARD - that was somewhat helpful. They had their research assistants look through all the existing studies for me.

https://rarediseases.info.nih.gov/

amother

SandyBrown

Tue, Feb 28 2023, 7:40 pm

amother Dimgray wrote:

I'm a genetic counselor. We recognized Rare Disease Day at work today.
Kudos to all the devoted mothers! May everyone who needs a refua have one.

Where are you located? Someone mentioned to me today that she is searching for a genetic counselor in NY.

amother

Currant

Tue, Feb 28 2023, 7:47 pm

Not to go off topic, I feel like we should link this thread to the recent Dor Yeshorim thread. Reading three pages of sorrow is literally all you need to believe in them.
My child has a medical condition that is unfortunately not very rare but was only recently added to the DY panel. We do IVF with PGD for all my other children. Sending you all hugs and refuah sheleimah!

amother

Almond

Tue, Feb 28 2023, 7:50 pm

amother Dimgray wrote:

I'm a genetic counselor. We recognized Rare Disease Day at work today.
Kudos to all the devoted mothers! May everyone who needs a refua have one.

That's so cool! I'm dreaming of a job like that.

amother

Dimgray

Tue, Feb 28 2023, 7:59 pm

amother SandyBrown wrote:

Where are you located? Someone mentioned to me today that she is searching for a genetic counselor in NY.

The American Board of Genetic Counseling has a list she can search.

https://abgc.learningbuilder.c.....ation

yachnabobba

Tue, Feb 28 2023, 8:05 pm

amother Dimgray wrote:

I'm a genetic counselor. We recognized Rare Disease Day at work today.
Kudos to all the devoted mothers! May everyone who needs a refua have one.

Can you pm me id love to be in youch

amother

Bottlebrush

Tue, Feb 28 2023, 8:15 pm

My daughter has Usher syndrome. I don't know anyone else who has it. It has an incidence rate of 4 per 100,000 births.