" Camille a 9 ans. Elle est porteuse d'une délétion 22q13, diagnostiquée lorsqu'elle avait 7 ans. Le site internet

raconte son quotidien : les premières années, les prises en charge, la scolarité, les projets, les difficultés et les différentes aides que nous avons mis en place pour l'accompagner jour après jour.
Le site présente aussi d'autres enfants en France et dans le monde, et permet d'entrer en contact avec d'autres familles, toutes concernées par la même anomalie chromosomique.
Le but est avant tout d'échanger, d'informer, de faire connaître les thérapies qui marchent et de se communiquer les petites astuces qu facilitent la vie de chacun.
Quelques pages sont traduites en anglais, mais encore trop peu !
Bonne lecture et à bientôt".
Frédérique

The story of Naysa and Nia-Michel—The Courage to try again after losing a child to Trisomy 22.

My name is Dionnie DeSilva. When I got married on March 30, 2003, I was so happy. I believed that now I would have a family and we would all work together and all would be well. I went on a family reunion to Panama and had a wonderful time. When I returned, I discovered that I was pregnant. My husband and I were very excited. At around sixteen weeks, I

took an AFP test. The results came high for Down Syndrome. I was devastated. I could not believe this was happening. I had waited to be married and had fortunately gotten pregnant within three months of trying only to now be told that something was wrong with the baby! Well, the Obstetrician suggested that I abort which I refused. She then sent me to have an ultrasound. When the technician saw the ultrasound, he called in the perinatologist. By this time I knew things must be quite serious. The neonatologist said the baby only had two chambers of the heart and would die in utero so he too suggested that I abort. I was then referred to a pediatric cardiologist , Dr. Abdul Aldousany. I gave his name because he is the absolute best. He found that she had four chambers of the heart but that the heart was not functioning properly. His only admonition was that I pray for growth. Despite all the naysaying, Naysa (Miracle) in Hebrew, was born on April 9, 2004. This happened to be Good Friday. Naysa was in N.I.C.U. for four months. The doctors conducted studies and arrived at the diagnosis of full blown trisomy 22. Once again, the geneticist suggested that I let her go to sleep permanently, but I refused. Naysa received a tracheostomy and a G-tube but was able to come home without oxygen. Naysa was home for ten months with twenty -four hours nursing care. She learned to smile, suck her thumb and focus. Right before her first birthday, she lost consciousness and from then needed oxygen. Two months later, she passed.

At the time of Naysa's death, I was 36. I knew I wanted another child but was fearful. What if this were to happen again. This is such a rarity, but it happened to me. Six months after Naysa's death we decided to try again. We first had genetic counseling and testing to see if there were any genetic conditions that would preclude us from trying again. We found none so we decided to proceed. I got pregnant within three months of trying.

The pregnancy went well. Nia-Michel was born on November 20th, 2007. She is a beautiful and healthy little girl. I thought I would share my story to encourage others. Yes, it was a challenging road, but I have no regrets.

God bless!

Looking for input on passing new legislation re: caseworkers.

Hello Everyone, For those of you who are unfamiliar with me my name is Tammy Rose, I am the mother of a twelve year old daughter with 22q deletion. I went today to visit my local Senator to propose a new piece of legislation and to my delight Senator Orie's staff member told me this is a good concept however I need to take the next step. This is where I am asking for your help.

First let me tell you a little bit about myself and why I would like to propose this new piece of legislation. My husband and I have been married for 18 years and we have five children together, three of which are grown and on their own. Our two youngest daughters are 12 and 10 years of age, as I have told you my 12 year old (Alicia) has a syndrome known as 22q deletion which most of you are familiar with. My 10 year old daughter (Megan) was recently diagnosed as being mildly mentally retarded, as soon as we got the diagnoses we were put in touch with our local agency called Center for Community Resource which deals with Mental Retardation Diagnoses.

Here is my problem Megan qualifies for services right now which help us deal with issues that we could not otherwise handle on our own, for Alicia we are not that fortunate. There are some services available but not like the ones Megan has. Also when Megan reaches the age of being able to work she will have the transition help from not only her school but from a social worker who can guide us in the right direction and continue that help beyond the school age years. Alicia just has the help of the school and once she is done she is basically on her own with just my husband and I to rely on (if she lets us help.) In speaking with professionals who have dealt with 22q children and young adults as well as parents that I have spoken with, when these children reach adult age they want to act grown-up and responsible yet they do not have the full knowledge and understanding of what that means. I would like a piece of legislation passed that says when a child or an adult has a specific diagnoses they can have a case worker assigned to them who will not only help with issues they are facing now but will also help guide them through a work program, as well as with housing should it be a group home or independent living, and last but not least (and this is the big one) be able to help with finances so these kids do not get into trouble whether it be legal or otherwise. As adults we all want to be responsible for ourselves and no longer rely on mom and dad, with this proposal it will give our children the freedom they need yet it will also help with having a responsible adult available should they need that as well. What I need from all of you is your input, do other states have any programs like this that we can model, and what are your suggestions for any type of wording to be used. Why you ask am I concerned with today when my child is only 12 years old, because as I have said my husband and I have five children all together and I remember when my oldest daughter (now 26 years) was 12 years old. It seems like it was yesterday so I do know how time flies. Alicia is young enough now to where she will listen to my husband and I and take suggestions from us, however most of us know that when these children hit older teenage years and young adulthood they are very prone to developing psychotic issues, such as depression, bi-polar or schizophrenia. This is not to say my child will develop any of these issues or that we will have any problems what so ever, however I would like to be prepared now and have somewhere Alicia and I can turn to for help if need be and maybe in the process help another parent as well.

I would like to thank all of you for taking the time to read this e-mail and pass along to me any concerns or suggestions you may have. I look forward to hearing responses from all of you.