genetics/CMT/having children

[Guest guest]

Amy,

Welcome to the group. I am a forty-something mother of a 3 and 1/2

year old. I have CMT 2E. When I was diagnosed (long time ago) my type

wasn't even known. As genetic research expanded, I was tested for and

have Type 2E.

By the time I knew I had 2E, I was well into my career, my husband

and I were well into our lives together, but had not had children.

After speaking with my neurologist one day, I learned about Pre-

Implantation Genetic Diagnosis for CMT. I looked into it more and my

husband and I talked quite a bit after seeing a genetic counselor. We

decided to give Pre-Implantation a try. This was because we did not

want my CMT to be passed on to our offspring. This is a type of In

Vitro and may give you options.

We went through the Reproductive Institute of Chicago. I got pregnant

and 9 months later Meagan was born. She does not have CMT. Gretchen

wrote a really good report last year on this process and I am going

to post it for you below. Maybe by now PGD is avaliable for more

types.

This is the link for the Institute

http://www.reproductivegenetics.com/

Sincerely,

Laurel Lahigian

Preimplantation Genetic Diagnosis for CMT By Gretchen Glick

At last, CMT-free children!

Preimplantation Genetic Diagnosis for CMT Types 1A, 1B, 2E and X

Reproductive genetics now offers preimplantation and preconception

genetics diagnosis to families with confirmed CMT 1A, 1B, 2E and X.

This procedure offers the opportunity for producing children without

passing along the responsible CMT gene.

Preimplantation Genetic Diagnosis (PGD or PID) offers a new method of

in vitro fertilization and conception by performing genetic diagnosis

prior to fertilization or implantation. In this procedure, the CMT

gene can be extracted from the CMT parent(s) thus preventing the

transmission of the CMT gene and resulting in CMT-free children.

Eggs are taken from a woman and united with a man's sperm to first

obtain complete cells (zygote). Then the zygote is stimulated to

divide 3 times to have 8 cells from each. One cell is removed and DNA

is examined to search for the genetic mutation responsible for CMT in

one of the parents (who must know their specific CMT type). Then the

mini-embryos without the mutation are implanted into the woman's

uterus hoping that one will develop into a fetus.

In July 2003, the Center for Reproductive Medicine in Brussels

published their research findings on CMT 1A and PGD. Five couples

were involved in thirteen clinical cycles, resulting in seven embryo

transfers. Three couples produced one CMT-free child each.

Expenses incurred for this procedure vary, but can be in the range of

$7,000 – 15,000 (usfunds). PGD is also done in the UK, Australia,

Italy, Tokyo, Kiev, Larnaca (in Cyprus), St. sburg, and Russia.

Reproductive Medical Centers in the United States working with PGD

couples include those in Chicago, San Francisco, Los Angeles and

Tampa.

For further information contact your neurologist or genetic counselor.