Chromosone Disorder

Ann - posted on 08/27/2009

Our son is 7 1/2 years old with a deletion of his 4q chromosome. He is one of a kind with his karyotype and the projections are unknown but we don't look at what will happen but what is happening today. Last summer 2008 he had his 11th surgery- double hip dysplasia which set him back with walking. He was doing some independent walking. Now a year later he is just now beginning to be where he was prior to the hip surgery. It is scary when you get a diagnosis or don't know what is wrong with your child but the best advice I can give you is:

1) Find competent specialists that work together as a team- including the parents.

2) Look at the smallest milestones as the most tremendous thing that has ever happened to you.

3) Ask for help

4) If it is too overwhelming take a deep breath. Keep communication open with your partner. Seek professional help to learn to adapt to those new fears your experiencing.

5) Most of all remember this is your child and you will love him/her no matter what!

Beth - posted on 08/24/2009

We were told just days after my son was born that he had a chromosome issue, and wasnt until he was a year old that we learned his diagnosis. He is the only known case of Mosaic Partial Trisomy 13:2. He is now 15 months and severly delayed. He cannot hold his head up, sit, or crawl, but he will roll anywhere he wants to go! I hae had many Drs. to tell me we just have to wait and see, but I am very stubborn and cannot just wait and see. I take it upon myself to do research constantly looking for solutions, plans, and even back up plans for my son. I dont feel that any child should be given limitations to what they will or will not be able to do in life, and they should all have the same opportunities as the other children. Do not give up hope, there are new technologies an advancements in medicine everyday.

Lisa - posted on 05/11/2009

My son in now 11 and we just recently found out that he has a Chromosomal Deletion Disorder. Down Syndrome is the same thing, but a different chromosome. My son had trouble before he was born. He stopped growing inutero (IUGR) at about 29 weeks (they tell me). He has been delayed with every milestone of development. He is extremely small for his age (currently 54 pounds, 50 inches) - always in the 1 to 3rd percentile. He has been to every specialist you could name, most recently the Geneticist. We went to one at a large teaching college hospital. They told me the technology is so new that they would not have been able to detect this exact chromosomal deletion even a year before. So, of course, their database, or any others don't have any similar case studies on record. The genetic counselor only had one case study, from a patient back in 1989! Because my son's mental delays are only moderate, we have been told: Wait and see. This caused a delay in services, thus a delay in progress. Although my son has been tested twice (first time age 3), he is not a "prime" candidate for growth hormone therapy, the genetic counselor did say they have had nice results with this treatment on these small chromosome deletion patients. They referred us back to the Endocrinologist. Also, there is a checklist of "adult onset" issues that they like to test to get a baseline for these kids. I am glad you found out specifically what you are dealing with so early, now you can have specific care. Keep up with your annual (at least) visits to the Geneticist.

Kidada - posted on 04/25/2009

Thanks for the inspiration Kathy.  The thought of your son beginning to walk at  6 years old just brought tears of joy to my eyes. What a blessing!  This site gives me support and occasionally I do let my guard down and reach out to family.  I am a true believer but sometimes it can be emotionally draining because I want to be sure that I am giving her the best care.  I do thank God that she's a healthy happy child otherwise. I know your son will keep going!  Thanks for your support.

 

Quoting Kathy:

My son has a Chromosome disorder also. It sounds like everything the doctors are telling you is the same that they told me. My son is now 6 and is just now starting to walk. He couldn't sit up on his own until he was about 1. I did all the therapies and took him to all the specialist. It is very fustrating not knowing what he will be able to do or not do. It has been 5 years since they told me that it is really rare and cannot find anyone with the same disorder. He has a chromosome #10 abnormality. At every visit they would say by age 2, 3, 4 he will catch up. My advice to you is to stay strong and reach out. Have someone you can talk too and don't give up. Just remember that they don't know much about your son so who says he won't be able to walk or talk.

Kathy - posted on 04/24/2009

My son has a Chromosome disorder also. It sounds like everything the doctors are telling you is the same that they told me. My son is now 6 and is just now starting to walk. He couldn't sit up on his own until he was about 1. I did all the therapies and took him to all the specialist. It is very fustrating not knowing what he will be able to do or not do. It has been 5 years since they told me that it is really rare and cannot find anyone with the same disorder. He has a chromosome #10 abnormality. At every visit they would say by age 2, 3, 4 he will catch up. My advice to you is to stay strong and reach out. Have someone you can talk too and don't give up. Just remember that they don't know much about your son so who says he won't be able to walk or talk.

Kidada - posted on 04/16/2009

Hi Tricia, Just keep trying everything the therapists show you. My daughter also has a chromosome disorder. She's the only child living with a mosaic partial trisomy 14:22. She is almost 3 and doesn't sit up or walk either. Recently she's been trying to pull herself up her crib. She gets half way there, but then falls back. Her diagnosis was developmental delays and less then avg height or weight. However, because they are basing this information on a couple of kids in the early 80's who are no longer living they don't know what she'll be like. She understands everything, she just can't verbally tell you what she wants. So her school has been putting in place a communications plan using pictures and an electronic device. I am still hopeful that she will walk one day. She's about to get orthotics in her shoes to give her support in her stander. Keep asking the doctor's questions and don't give up trying the exercises and new stuff. You can send me a message any time for support.