Fragile X syndrome
16 comments
- mPosted 09-10-18
I am so sorry you are going through this!! I had never heard of it so I thought I would quick check it out and it looks like it could be passed on to either gender, but males are affected worse.
Hang in there mama. Wait for more testing or after talking to the doctors. I know, easier said then done!! - Cekenedo Original PosterPosted 09-10-18mommaofboys1984 said:
I am so sorry you are going through this!! I had never heard of it …
Thank you I have never heard of it either! It’s so hard not to worry but it’s really hard not to. I’m going to try to stay positive. I am very sorry you're going through this right now. I know how helpless and difficult this situation must be.
Try not to stress until there is something concrete to stress about.
My husband and I got genetic testing before we got married because we are both Eastern European Jews.
I found out that I am an intermediate permutation carrier for Fragile X but that there were not enough repeats for my offspring to be harmed by it.
If I was a full blown carrier I would have gone the IVF route and had the embryos tested.
Someone sent me this link, which I found helpful.
https://fragilex.org/learn/premutation-carriers/Opens a new window
On a personal experience note, I used to work with children with special needs.
I was a one-on-one for a teen boy with Fragile X Syndrom. His case was severe and devastating. I would not wish it on my worst enemy. Along with delayed cognitive development and reproductive/puberty issues, comes a slew of emotional disorders. He was very troubled and working with him was one of the most challenging years of my life.
To be fair and not biased, he did not have a good supportive family life. I think if he were raised differently, in an accepting environment, he would have been a slightly different person. Knowing that made it even harder.
If you find out there is indeed and issue I think you should go into this armed with a tremendous amount of knowledge and a top team of doctors and therapists in your court. It will be challenging but you have the power to make it better and easier. I have to say when I made progress with this boy we both felt very rewarded. Just know with every step forward there is usually a step backwards.
Again, I am sorry that you are dealing with this. Stay strong and positive and try not to worry until there is something to worry about.
I wish I could have been a more optimistic voice for you.
Advertisement | page continues below- Cekenedo Original PosterPosted 09-10-18sarabeargoesthere said:
I am very sorry you're going through this right now. I know how hel…
Thank you for the insight! I’d never heard of this disease but I’m not going to claim it. - Cekenedo Original PosterPosted 09-10-18sarabeargoesthere said:
I am very sorry you're going through this right now. I know how hel…
Do you know where I find out this cgg repeat number? Should the doctor know it already? Or is it with further testing? - Cekenedo Original PosterPosted 09-11-18sarabeargoesthere said:Your doctor should have that information. Ask how many repeated allele…Thank you I see a genetic counselor in the morning and hopefully I get all my questions answered!
- Cekenedo Original PosterPosted 09-11-18LilSeahorse said:Is your husband a carrier too?
When both parents are carriers,…He wasn’t tested. We will be going to see a genetic counselor tomorrow hopefully he’s not - Cekenedo said:He wasn’t tested. We will be going to see a genetic counselor tomorrow…That's good (that he's getting tested).
I know its easier said than done but don't stress too much yet. I hope the Dr is able to give you some peace of mind.
Tip: write down any questions you might have. We (my husband and I) have talked to a genetic counselor/Dr before with our last pregnancy, and it can be emotionally overwhelming and easy to forget what you want to ask.
My thoughts and prayers are with you both. ❤