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  1. HRC Anonymous User
  2. PGD
  3. Tuesday, 26 February 2013
  4.  Subscribe via email
Hello. I am a pre mutation carrier of the fragile x gene and I wanted to know if any of the doctors have any experience with the fragile x gene? My son has fragile x. My husband and I did want 2 more children, but we do understand that we will have to have this procedure done. I also wanted to know how long this whole process takes? Once pregnant, would I have to see a doctor at this facility or would I be able to go to my primary doctor for my monthly check ups?
Responses (7)
DrCoffler Accepted Answer Pending Moderation
Hi,

We have experience with PGD for Fragile X.
Should you be interested please call my office in Laguna Hills (949-472-9446) to schedule your initial consult. They do my schedule for Laguna, Fullerton and Oceanside offices.

Dr. Coffler
  1. more than a month ago
  2. PGD
  3. # 1
HRC Anonymous User Accepted Answer Pending Moderation
Thank you for answering...back to my question. I actually had a couple more questions. My sister actually just found out that she's a carrier as well to the fragile x gene. We were both planning on getting in vitro together. She is on birth control pills and I have the IUD.. How soon do we have to get off the pills and IUD before we start the procedure? Also, what procedure would you recommend us to get? And what is the cost? Our only concern is passing on that gene. So far there are no fertility issues, We are in our 20's by the way.
  1. more than a month ago
  2. PGD
  3. # 2
DrFeinman Accepted Answer Pending Moderation
You should stop the pills and wait a month to obtain Estradiol and FSH levels on the first three days of the period. Many fragile-X carriers have elevated FSH levels, which you need to know before you start treatment. The IUD should be removed at least one month before undergoing IVF.
  1. more than a month ago
  2. PGD
  3. # 3
HRC Anonymous User Accepted Answer Pending Moderation
I am also a fragile x carrier with a daughter with the full mutation. I have had blood work done with a local fertility specialist. My test came back normal except for amh level which was .16 which I was told is very low. I was wanting to do ivf with pgd but now I'm concerned I will not produce enough eggs to be worth testing. I am 27 and was wondering if I should continue with ivf or go on to donor eggs.

Carrielynn
  1. more than a month ago
  2. PGD
  3. # 4
DrCoffler Accepted Answer Pending Moderation
Dear carrielynn,

If it is important for you to have your own biological child, you may consider trying IVF with your own eggs. If you don't produce eggs, you can always stop the process and move forward with donor eggs.

Good luck,
Dr Coffler
  1. more than a month ago
  2. PGD
  3. # 5
HRC Anonymous User Accepted Answer Pending Moderation
Hello,

My husband and 2 year old son both have the RB1 mutation. My husband is mosaic and my son has it in 100% of his cells. We have a 50% chance of having another baby with Retinoblastoma which we are not willing to take so we are interesting in IVF with PGD. I'm 32 years old and had no problems getting pregnant. We met with a fertility doctor at the University of Utah but they never mentioned using laser or removing more than 1 cell. I'm worried about the possibility of going through this process and not having a healthy baby. I can not have another baby with cancer and a life of fear of getting secondary cancers. Have you ever dealt with a family with the RB1 mutation? Do you outsource to labs to do the testing? I want to make sure we are go to the best clinic with the best technology. The information on the internet is overwhelming. We are willing to temporarily relocate for the procedure since we live in Utah.

Thank you,
J
  1. more than a month ago
  2. PGD
  3. # 6
DrFrederick Accepted Answer Pending Moderation
Dear J: I have had other patients with your RB1 mutation that have been successful using PGD to screen the embryos. Make a consultation so I can review your specific case, and make recommendations. Don't give up hope.

Sincerely,
Dr. Frederick
  1. more than a month ago
  2. PGD
  3. # 7
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