Trisomy of Chromosome 6

C. -

My son has a chromosonal defect as well. It's not the same one that your little one has, but his is a varied defect as well. He has Williams Syndrome (a miniscule (sp?) part of chromosone #7 is missing). You will soon realize that it is amazing what one little extra or missing chromozone can effect in development and demeaner. Gabriel has a chance of a wide variety of symptoms (commonalities include delayed development, mental retardation, social problems and severe medical issues).

Childrens Mercy hospital is the best place for your little girl! We have been there so many times (our genetic counselor is there) and they have always been GREAT with us. They will explain everything to you and answer all your questions.

I know how you feel about finding out...no one can be prepared for the shock of finding out your little one...your dream will not be like the other children. We went through a time where we mourned the loss of our son. Everyday, new information will flood your mind and some of it will be hard to digest. I will CERTAINLY be praying for you! We found out about Gabriel after he was born when his heart stopped on the opperating table during a hernia surgery. You are lucky to know now so that you can put the proper systems in place for your little one...and so that you can prepare yourself. It is not easy, but your little girl will bring you more joy than you ever thought possible.

Check out a program they have here in Missouri called First Steps. It is a program designed for infants with special needs. They will provide you with physical therapists, speach therapists, occupational therapists...etc for little or no cost (sliding scale). You little one should automatically qualify b/c of her diagnosis. The phone number for our director is: ###-###-####. Her name is Kathy Daulton. Tell her that Gabriel Smith's parents sent you. She is GREAT and will set you up with anything you need. They will come to your home and work with your little girl.

Don't hesitate to contact me further if you need anything. Gabriel is 20 months old now and you are more than welcome to come visit us (or we can come visit you) if you need some fellow special needs parent company or advice. We will be praying for you!

K. K
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I've never heard of this. It sounds similar to Downs Syndrome. I hope that you can find some answers. Good luck with your beautiful baby and your other girls. It takes a REAL mom who loves her children to want to learn what to expect and not give up on the beautiful child she has growing inside her. I commend you!

Hi C.,

I don't know anything about Chromosome 6, but I can recommend an AWESOME team of doctors in Kansas City. My son was born 6 months ago with a complex congenital heart defect and my regular OB/GYN referred me to a group of specialists at St. Luke's Hospital. They are perinatologists (OB/GYNS that deal with high risk moms and babies). They performed several Level II ultrasounds and I had several fetal echocardiograms. Anyways, they are awesome and it may be worth a second opinion. I mostly saw Dr. Lu and Dr. Gray.

http://kansascitymfm.obstetrix.com/body.cfm?xyzpdqabc=0&a...

I hope you get the information you need for your little girl!

K.

C.,

I read the responses and saw that several people recommended joining a support group and I can't agree more. My son was born with a eye disorder that caused him to be blind in one eye and I joined an on-line support group. They have helped me with so much, from emotional support to medical advice and referring us to the best Dr's etc. Take time to grieve the loss of your "perfect child" and then move on as best you can. Soon (it seems like forever now but it will happen quicker than you think) you will realize that your daughter is "perfect". Perfect for you. You and your family will be in my thoughts and prayers.

I haven't experienced anything like this personally, but my cousin had a baby who had some chromosome defects etc... What will help best, is to get as much information as you can from your Drs as well as the genetic counsler. The counsler will be able to provide you with some good info and leads on where to get more. You might find out what kind of Dr or Drs you will be dealing with once your baby is here, and start to find some now that you are comfortable with and can get to know, who can be there to help once she is born. It also doesn't hurt to get a second opnion from your testing, or another genetic counsler after this one. Not saying they are wrong, but some might know more on the subject etc... Also you could try joining a message board, or online Moms group that have children with this chromosome disorder, or ones similar to it. They would have helpful information first hand! Also just continues looking around online etc... I wish you the best of luck, and pray for the best! Enjoy your beautiful princess once she gets here!

http://health.yahoo.com/other-other/chromosome-6-partial-...

Here are some listings of support groups that maybe helpful for you to contact about this condition. While it's not anywhere the same as this genetic condition, one of my stepsons has Pectus Excavatum ( concave chest wall) and finding several support groups to aid with information and general advice was extremely helpful.

I'm glad you are getting your genetic counceling,because you are right this seems to have some broad sweeping possibilities as far as developmental anomalies. I wish I could be more help.

C.,
I wish I had some knowledge of this or could put your fears to rest. But I just needed to say that I'll pray for you all and the baby. You offer such good advice on here all the time. I hope everyone here that prays will lift you up often and that this will end up being almost a non-event. Doctors aren't always right about everything.

Suzi

After reading your question,.. I myself did some research for you and here is what I found,.. Hope it is helpful for you and I wish you all the joy in the world! M.,....
Chromosome 6, Partial Trisomy 6q is an extremely rare chromosomal disorder in which a portion of the 6th chromosome (6q) is present three times (trisomy) rather than twice in cells of the body. Associated symptoms and findings may vary in range and severity from case to case. However, many affected infants and children have slow physical development (growth retardation); mental retardation; malformations of the skull and facial (craniofacial) region; an unusually short, webbed neck; abnormal bending (flexion) or extension of certain joints in fixed postures (joint contractures); and/or other physical abnormalities. In most cases, Chromosome 6, Partial Trisomy 6q has been the result of a balanced translocation in one of the parents.

Hi C.~
I can't help with giving you more info, but I wanted to agree with the first post & tell you that I'd pray for you. It takes a special set of parents to take care of special needs children & God chose YOU!!! Congratulations, I hope you find the info you need to prepare.
J.
http://www.JessicaGrimm.com