Trisomy 13

I am looking for families that have a trisomy 13 chld.  My niece is 2months old and my sister has been told she has  trisomy 13.  She is looking for a support group in our area. we could use some help... thanks

[Dragon1973]

Hello pattymcn,

Firstly I would like to pass on my congratulations on your niece.  She will change your life for the better, and give you a warmth you probably might not have otherwise known.

I am hoping that I can give you some good information as far as support groups go.  I am not sure where you are located, and therefore it is hard to give you some details with support groups.  There is one specific site I use to get support information but it is from Australia (I am in Canada).
So I am posting some support groups for Trisomy 13 from various places.
http://livingwithtrisomy13.org/    (This site is a must for T13)
http://www.chromodisorder.org/CDO/
http://www.rarechromo.org/html/UsefulLinks.asp  (This site has many sub groups to choose from.)

I want to mention first off, that despite old information (both negative and grim) as is much information about many genetic abnormalities, there are babies with T13/18 who grow and live to be young children and these children are still here.  I am not sure what information you have or know about Trisomy13 (Patau Syndrome) but the clinical descriptions advise parents not to expect their baby to live past the first year of life at the maximum.
This isn't always true, so please pass on this information and have hope and faith.

Because it is typically known that in most Trisomy 13/18, that these specific trisomy's are not usually compatible with life, and do have a very shortened life span.

Some information for you if you haven't already researched this: (Remember, these clinical points are from text around the world that use the most commonly known statistics and facts.  Not all apply.)  And also note, I don't like to pass on negative information but it is important to be aware of all the details and know that they don't always apply.  This information is from a genetics site on the web called Centre for Genetics Education.

Important points

    * Trisomy 13 (also known as Patau syndrome) is a chromosomal condition in which there are three copies instead of the usual two copies of all, or a part of chromosome 13 in the cells of the body
    * Trisomy 13 severely impacts on intellectual and physical development
          o Appears to affect females slightly more frequently than males
          o Occurs in about 1 in 5,000 to 1 in 12,000 live births
          o About 1% of all recognised miscarriages occur in association with trisomy 13
    * Of all babies born with the extra copy of chromosome 13 in all the cells of their body, around 50% die in the first month, and the rest within the first year
    * The chromosomal problem in trisomy 13 is due to an egg cell or, rarely, a sperm cell, that is formed containing one copy of each chromosome and an extra copy of chromosome 13, ie. 24 chromosomes rather than 23. When that egg combines with sperm containing the usual 23 chromosomes, the baby conceived has 47 chromosomes in the cell of their body rather than the usual 46
    * When there are three copies of chromosome number 13 in all of the baby's cells, the condition is referred to as trisomy 13
    * When the extra copy of chromosome 13 is only in some of the baby's cells due to a mistake in cell division occurring soon after conception, the chromosomes in the cells of the baby may show two different patterns: some cells with 46 chromosomes and some with 47: mosaic trisomy 13. The range and severity of symptoms depends on the number and distribution of cells containing the extra copy of chromosome 13
    * The chance of having a child with trisomy 13 increases with the mother's age
          o If a woman has had a child with trisomy 13 there may be a small additional increase in risk over her age risk for having another child with the condition
    * Screening and diagnostic testing (where indicated) for trisomy 13 is available in pregnancy
    * Decisions regarding screening and testing during pregnancy should only be made on an informed basis following appropriate counselling.

Trisomy 13 (also known as Patau syndrome) is a chromosomal condition in which all or a part of chromosome 13 appears three times (trisomy) rather than twice in cells of the body (see later). The syndrome:

    * Appears to affect females slightly more frequently than males
    * Occurs in about 1 in 5,000 to 1 in 12,000 live births
    * Of all babies born with the extra copy of chromosome 13 in all the cells of their body, around 50% die in the first month, and the rest within the first year
    * About 1% of all recognised miscarriages occur in association with trisomy 13

I know that those above statistics and information are not pleasant.  I have a son with T21, Down syndrome, and most of the information available is out of date and not accurate today.  Despite the literature provided to me, my son is defying the literature.  he is cognitively typical, developing typical etc.  Much of this is because of Early Intervention Therapies and of course our love for him.  Please pass on my information should your sibling want someone to talk to.  I can offer support regarding genetic abnormalities and the paths that should be taken with respect to on going treatments and therapies if your sibling is interested.
I have a blog about our story that I update regularly:  http://welcometoourhouse-myjournal.blogspot.com
and in my details page, is my email if they wish to contact me directly outside of MedHelp.  They can also send me a message through here.  I am available day and night.  I am a designated parent guide for families receiving a diagnosis of genetic abnormalities though the hospital here in Toronto Ontario Canada.
I hope I can be of assistance.

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator

[pattymcn]

thank you so much for your response!  I will go to your blog and I am sure I will send you a  message jsut have to get my head around  what I really need ot know.  We live in newport news virginia USA and we are trying to find someone  for my sister to talk to  that has a living trisomy 13 baby.  All we have found are not still living and this is  making her lose hope.
thanks again Patty

[3beautifulbabies_1atrisomy18angel]

SOFT is a wonderful organization that0was0formned to help people deal with a diagnosis of trisomy 13/18. They hold conferences every year where families & friends get together with the medical community for information & to connect with others in our same circumstance. I suggest going on their website: it is a wonderful place for information & support!