Input on Genetics Topic- plus info on an Awesome Research Study

[Guest guest]

Hi all-

I just sent another post introducing myself to all of you because I am new to

this Board. I noticed that Genetics seems to be a recent topic- so I decided to

leave my input on this.

My Son Tyler (age 32 months) was recently diagnosed with Apraxia. Tyler was late

with all of his milestones as a baby. He did not babble when he should have, he

did not sit, stand up, etc. when he should have. Our Pediatrician always told

us to " not worry " . A good friend of mine who has 2 kids with Asperagers

encouraged me to contact my local EI People to evaluate Tyler when he was 18

months old. I never knew about the concept of " EI Programs " .... and I am a BSN

Nurse.... I called- they came to see my Son- and he met criteria for Services.

I was told that he had Hypotonia.... this is where my journey started.

I demanded a Neurology Referral from our Pediatrician.... an MRI of the Brain

was ordered- plus Genetic Testing. The MRI came back showing mild PVL... (the

Neurologist told me that the Radiologist who read this report interpreted it

this way-- he also said that if he had been the one reading it- he would have

considered it to be normal). The Genetic Testing came back showing that my Son

has a 10q23.31 deletion. We were referred to the University of Pittsburgh Dept.

of Genetics for further evaluations. My husband and I were both tested..... my

husband has the exact same deletion.... My husband is a College Grad, a Business

owner, and a former High School and small College Football Player.... He did not

have any delays. The Genetics people told us that Tyler and my Husband were

missing 9 Genes with the 10q23.31 deletion. We were told that 5 of thes genes

have been studied- and show no correlation to Cognitive or Physical delays. The

other 4 have never been studied-- yet, most " problem or disease causing Genes "

have been studied.... the 4 remaining Genes are most likely insignificant as a

causitive factor of Tyler's delays.

Tyler has also had an EEG-- normal.... plus various other appointments with

Specialists.... We have found nothing. I have seen questions from some of you

.... asking " if Genetic Testing changed the treatment " of anyone else's

children....or if anyone found a Genetic Cause for their child's delays...

In my Son's case--- Genetic Testing.... (and abnormal results) did not change

the course of my Son's treatment... We STILL do not know the CAUSE of my Son's

problems.... It was hard to go to all of those appointments.... and it was hard

to put my Son through some of the tests.... but I am glad that I did.

People differ in thought about this.... my belief is that I must do everything

that I can to find the CAUSE of my Son's delays.... If I can find it, I can help

him. Keep in mind, I come from a Nursing background.... it is kind of

ingrained in my mind that " you can't fix something unless you know the

cause " .... Also realize that my son also has Hypotonia....

I went overboard demanding tests.... I would do it again if I had to. We still

do not have the answers that we wanted..... but we DO have " peace of mind " .....

every possible base has been covered.... and Tyler is physically OK.... there is

no known medical reason for his Hypotonia... other than the " questionable

PVL " ... We now have a new Diagnosis- of Apraxia... (I described how this came

about in a previous post)....

The Genetic testing has " been part of the puzzle " .... Having it done was

important to us in the following ways:

1. One of the missing Genes in the deletion that my husband and Son have can

cause people who are missing this Gene to have Aneurysms when they are older- my

Husband (who just turned 50) was told to have an Echocardiogram done.... he

did... it was normal.... My husband now knows that he has a Genetic

Predisposition to having an Aneurysm- and his PCP will continue to follow up on

that... Our Son Tyler will also need to be monitored for this when he gets

older.

2. Another Gene that my Husband and Son are missing with their deletion causes

problems with Cholesterol metabolism if it is missing. This solved the mystery

of why my husband- who is skinny and tall... who eats well.... and who works out

a lot has a sky high Cholesterol level.... (meanwhile- I no longer work out, I

eat junk, I am overweight-- and my cholesterol levels are low).... My husband

now knows that he might have to take medicine to lower his Cholesterol level...

because his body won't do it by itself.... Tyler will be told this when he is

older.

3. The Genetic Testing also ruled out various metabolic conditions which could

have caused Tyler's delays....

Did any of this make a difference to the Therapy Tyler receives--- NO it did

not.... Yet going through it was my way of " being thorough " .... I would highly

encourage all of you to pursue Genetic testing....

To all of you who have already gone through Genetic Testing- and who have had

abnormal results..... There is an awesome Research Study being done by the

Medical College of Georgia and Harvard.... I found out about it from another

Group that I belong to. They are studying how any form of " an abnormal

Genetic issue " relates to Cognitive Delays. Your child must have some form of a

confirmed " Genetic Issue-- such as a deletion, translocation, etc... to

participate " ... They WILL PAY FOR THE COST OF A BLOOD DRAW.... for your affected

child... they will also request and pay for blood to be drawn for all family

members. In our case, they want blood from my husband's family... plus me, my

daughter and my affected Son. There are so many unstudied Genes.... they are

trying to compare symptoms of kids who have the same Genetic issues.... to see

if there is a genetic cause of problems. Genetic testing continues to advance.

We had our tests done one year ago- already there is a more advanced way to test

the Human Genome.... These people will do this test FOR FREE...... and they will

give you the results!

I have not yet gone to have our blood drawn-- in our case, it is more

complicated.... (they want my Hubby's family members as well because my hubby

has the same deletion as my Son)....My mother in law is ok with the testing....

my husband's dad is deceased. My husband has 2 brothers.... one is ok with the

testing... the other has been difficult.... and has been refusing to give his

blood.... (he has weird privacy issues).... This brother has 2 teenage sons- one

of his sons had his Spleen removed at age 2 due to a condition called

" Hypersplenism " .... I learned that one of the missing genes in the 10q23.31

deletion could have lead to this- but this brother of my husband could care

less.... He is very religious based in his thinking.... yet somewhat

bizarre.....

If any of you who have a child with a known Genetic issue are interested in this

study.... they will most likely only want blood from your affected child, you,

your spouse, and any siblings. Again, the purpose of the Study is to try to

find Genetic causes of Developmental Delays.

I simply e-mailed the results of my Son's Genetic Testing " word for word " to the

" main guy " with the study..... Before I even submitted blood from our family, he

gave me MORE information about my Son's deletion than I was told during our

appointments with the U. of Pittsburgh Dept of Medical Genetics!

I tried to post the consent forms to this site.... I am having problems

with posting attatchments to . .... If anyone is interested in

participating in this study-- please look me up in the " Database Section " .... My

name is .... You will see my e-mail address there. Send me an

e-mail- and I will send you all of the forms for this study... plus info on who

to contact. messes up e-mail addresses if you type them as part of a

post. The Researcher that I have been in contact with is Hyung Goo Kim. If any

of you feel more comfortable contacting him directly.... (without e-mailing

me)... his e-mail address is:.... (I have to write it this way- because

will mess it up).... hkim (at sign)chdr (dot) mgh (dot)harvard (dot) edu

For some reason, messes up the link to his e-mail... here is the link....

but if it does not work- refer to what I wrote above....

hkim@...

I have all of the consent forms that he sent me saved.... plus I also saved a

list of questions that many of us on the " 10q deletion Board " had about

the study.... with his responses to these questions.

In our case, the Genetics people at the U. of Pittsburgh blame my son's delays

on " Brain related issues " ..... the Neurologist from the same Hospital blames my

son's delays on " an undiagnosed Genetic issue " .... This Study will help me to

clarify things. My 4.5 year old daughter Alyssa will also be tested- for

free....Alyssa is very advanced.... to the point that she is almost unreal with

her language... and yes- even reading skills.... The University of Pittsburgh

tested Tyler, my husband and I for free.....(why?-- I do not know).... but they

would not test Alyssa- because she had no delays. In our case- it is quite

possible that Alyssa has the same deletion..... if she does.... I just can't

wait to throw this up in Tyler's Neurologist's face.... LOL....

Sorry so long.... I tend to be so " detail oriented " ....

Please look my name up in the Database.... e-mail me-- so I can copy and paste

and include the forms for this study as Attatchments.... Your child must have a

diagnosed Genetic difference to participate.....

I feel that this study is so important....

Sorry for the long post.....

Take care all....