DNA Testing

[Guest guest]

Hi everyone, Ruth warren here.

Can I add one more (and slightly different) view of DNA testing?

For me, CMT Type II is the type I have been diagnosed with through EMG

testing. I had this testing done as a child and again as an adult

when I had to start taking my kids to be treated for CMT.

We are currently being treated through the MDA clinic at Duke Hospital.

Research is being done there by Dr. Jeffery Vance to try and isloate the

gene(s) for CMT II subtypes. My neurologist there asked if my family would

be willing to have blood drawn to be analyzed

in this effort. I agreed, and two of my 3 young daughters also agreed. My

oldest did not and I respected her wishes. I let my kids decide for

themself if they wanted to be " stuck " with a needle or not.

They also took my family history and, as a result, linked us into

what is now identified as the largest documented CMT family on record.

Our family tree spans over 13 pages. The researchers also flew to Indiana

and several parts of Pennsylvania to take blood sample from my mother (who

does NOT have CMT but was used as a control for our branch of the family)

and family members who are and are not diagnosed.

Our bloodwork did not provide the elusive " crossover " (don't know if I have

the right terminology here - I do not pretend to understand DNA testing...)

they were looking for to positively identify the gene.

BUT, at least I feel we were making a contribution to solving the puzzle

that is CMT. I believe (personal opinion here folks) that gene replacement

therapy may be the key to a cure in the future.

If so, then DNA testing and research is beneficial for those who want to

have testing done or want to be a part of the research effort.

This is a very personal decision.

Ruth

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