Genetic Clinic Questions

[Guest guest]

Hi group,

Does anyone have advice for parents who have yet to consult with a

genetics counselor such as, specific questions that need to be asked.

Our story: My son was diagnosed at age 3. He had problems

running/walking and was in physical therapy a year before we realized

the problem was not improving and sought additional testing. He wears

glasses. His speaks well, except he sometime repeats what we are

saying instead of responding to our questions. We don't know if he is

in need of speech therapy. We are waiting until he has been in

preschool a few months before we have him tested.

Thanks

Stefanie

[Guest guest]

Hi Stefanie

It is funny that you ask this question at this time! We were working with a

group of students who did some research on how to prepare for a genetic

counseling appointment. They have not yet published their findings, but

hopefully will do so soon. They are making an interactive website that will give

you all kinds of information on what you need to know about genetic counseling

and how to prepare for an appointment.

On the question of seeing one or not, it depends on what you are seeing one

for. If has mosaic trisomy 21 (not translocation) then they will tell you

that your risk for having another child with MDS is 1%. Then, they might raise

that risk depending on your age. I will say that I have never met a family who

have had more than one biological child with MDS. There are some, who have more

than one child with Down syndrome, and they find out that they have MDS and

never knew it. But, all the cases that I know of parents with MDS, their

children have trisomy 21 and not mosaicism.

I know that our Research Chairperson, Lipscomb Sund, could answer even

more questions on this matter. I am CC this to her.

It sounds as though has an Auditory Processing disorder instead of a

Speech Disorder. You should look up Auditory Processing online and see if he

meets that criteria. However, at 3 yrs old, he could just be repeating you for

the heck of it. But, since this can be a problem, that is what I would check

into.

Kristy

sestes1047 wrote:

Hi group,

Does anyone have advice for parents who have yet to consult with a

genetics counselor such as, specific questions that need to be asked.

Our story: My son was diagnosed at age 3. He had problems

running/walking and was in physical therapy a year before we realized

the problem was not improving and sought additional testing. He wears

glasses. His speaks well, except he sometime repeats what we are

saying instead of responding to our questions. We don't know if he is

in need of speech therapy. We are waiting until he has been in

preschool a few months before we have him tested.

Thanks

Stefanie

[Guest guest]

Stefanie,

I think the fact that you're on here and know about MDS is mostly helpful.

Our son was diagnosed at 2 and most our questions were about MDS, to which they

had no answers. The group that IMDSA is working with is great, and they're

making a lot of strides, but at the time, all we found out about from our

geneticist was the percentage of cells affected and what the chances were either

of us were carriers to increase the chances of having another child with DS. I

hope your appointment goes well. I wish we had some sort of lits of questions

or ideas about MDS in general before we went. Thank goodness we have IMDSA now

(even though they existed then, but we didn't know it) and all the genetic

research that's going on!

Good luck!

IMDSA Newsletter Editor

Mom to Aidan (mds) 5, a 3, 18 mos.

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