I'm Silvia, Maaian's (4d q21.1 21.3)mother, I would like to know if anyone has investigated the possibility of using compatible stem cells (brothers / Sisters). I know this is new but perhaps someone is studying this possibility in any chromosome disease.

Hi Silvia, I talked to our Genetics Doctor about this and she told me they did not know of any research as of now. Mainly because most of the reseach is being done on more common deseases. That's when she encourage me to join groups like this, to track the progress.

Thank you Savana, Which is the diagnosis of your daughter? I live in Buenos Aires, Argentina. Maaian is making great progresses, she is 10 months old now

My name is Amy, my daughter Savana was diagnoised wtih 4q13.3. She is 5 1/2 now and is doing great in Kindergarten! She was Sept. Student of the month! She is developmentally delayed, but is slowly hitting all of the milestones.

Hi This is Jhuma. My son has been diagnos 4q13.2-21.1 today. He is 1 yr old. Can anybody share there experience with me that can help me.

Hi Jhuma, Savana was diagnoised with 4q13.3 when she was 3 1/2 years old, she is now almost 6 years old. I think your childs breaking point is the closest I have seen to Savana's. Anyway, as far as developmentally Savana sat up by 8 months, crawled at 12 months. She said mama at 7 months, and dada at 8 months, but not many words after that, just some babbling. She started walking at 24 months. She was developmentally only a little behind on her receptive language, but very delayed in her expressive language. She had and used about 70 signs by age 3. She is talking now, but this only really started the last year and a half. She is a social butterfly, and always has been even without words. She has some learning difficulties. She is very easily distracted, and learns best one on one with alot of practice. I hope this helps you. Please let me know if you have any questions, I will be happy to answer them, Take care, Amy

Thanks a lot Amy. I am very scared and depressed now days of not knowing future of my little one. He sat on 7 months but still not crawing. He can stand with support though. How is Savana's health? Any issues? Please share nything that you think would be helpful for me. Any suggestion that you think from your experience of daily life please share. Also, what all therapies helped her? Thanks, Jhuma

Hi Jhuma, It's hard not be scared of the unknown, I also feel that way sometimes. But, even if I could now change Savana's health I wouldn't. She is so incredible, and has touch many peoples lives, and I am sure will touch many more. Also, you have to always remember not to compare them to other kiddos, they will hit the milestones on their time. I definitely reccomend any kind of early intervention you can get for your little one. All of the therapies have done great things for Savana. She was not diagnoised until she was 3 1/2 so we did not have alot of therapies until then. What made you get your baby tested? Was there a health issue? Savana has not had any major health issues, the only thing we really deal with is her developmental delays. Let me know if you have anymore questions I can answer, Amy

Hi Jhuma, Also, I don't know if you know, but Unique is putting on a 4q study in April. So, maybe after they write their report you will have some of you unanswered questions answered. If you can attend there will be some awesome people there that can help, and you will be able to meet some other familys. Amy

Hi Amy, Just to let you all know that I lost my son April 19th 2010. He was 14 months and 13 days old. We are one of the unlucky parents that lost their kid. God Bless you all. Jhuma

So sorry to hear, Jhuma! I would insert the normal stuff here, but that's probably the last thing you want to hear. It might help to think that he is now a Guardian Angel to those other children who have 4q issues.

HI Silvia... Stem cell replacement has little to do with Chromosome dissorders. Chromosomes are the building blocks for us as a person and stem cells are what we produce to look after ourselves, scientists are looking at ways of helping us to "grow" cells that fend of diseases and disorders but they can not (as yet) change the foundation of our genes. Unfortunately there is no miracle cure for a chromosome disorder we just have to find ways of best dealing with it. I am no scientist or doctor myself but I, like all of us keep hoping that something will come along to help our child... best wishes... Shaun

Oh bless your heart Jhuma, I am so sorry to hear about your loss. We will keep you and your family in our prayers. Please let me know if there is anything I can do for you. Take care, Amy

God bless you and your family, Jhuma. So sorry for your loss. Your son was blessed to have had such love surround him on his journey while he was with you. Take care, The Kenyon Family

Just checking in to see what the newest topic was and I agree- stem cell research will do little in chromosome disorders. Jhuma I am so sorry for your loss. This isn't anything any parent should have to go through but know that the blessing you had in your life, even if for a short time, will always be treasured. My son is 8 years old and delayed in all areas and I too dug and dug to know more about what "could be" when he was 3 months of age. I eventually learned I couldn't compare to others with similar genetics and I had to stop looking at "typical" children because our little boy is writting his own book. A book we have learned to enjoy. I agree that early intervention programs can help make your child become the best he/she can be. These programs aren't just for the child but also to educate the parent. Continuing the therapy at home can increase the greater success in meeting milestones. At 8 our son who was not suppose to live, eat, walk, or have any means of communication. He may not be verbal but his sounds, pointing, and beginning to use communication devices speaks volumes.

hi I am Cristina's mother Alice, now born Feb. 23 with interstitial deletion of the long arm of chromosome 4, you know something about this syndrome? I am Brazilian and I'm here to find someone who is experiencing the same situation as me and my husband with our little Alice.

Jhuma , As I've been eading these posts I saw you lost your son. I'm so sorry to hear that! May I ask what complication took his life? My son is 7 but really had some serious issues up till he was about 2 then even now deals with life threatening hypoglycemia. His sugar will drop so quickly that at times we have NO warning. Now that we have a diagnosis, I wonder if there is anything else I should look for with Sam. Again let me say I'm so sorry for your loss.

It was a sudden death with no severe issues or problem. He just had couple of hours diareah and I took him to his pediatrician to make sure everything is ok....it happended in there in front of the doctor. There was no signal that I could have saved him....we did Autopsy but it was also came normal....no reason for his dealth. We are still looking for an answer ............

Hi, I am Kirstine. My daughter Jessica was born Feb of this year and she was whisked away to NICU with fluid on the lungs. The next day we were informed that she had a cleft palate, Pierre Robin Sequence & Hypotonia.Her Chromosomes were tested and came back with a deletion and an addition on her No4 Chromosome. Jessica spent 1 month in NICU and came home sleeping prone to keep her airway clear and on a feeding tube & haberman feeder. She was sleeping on her side within a couple of weeks of coming home. She has done so well and is now solely fed with the haberman and we have started solids. It is a fulltime job trying to get milk/food into her but she loves not having the tube in...she is not putting much weight on now though and I'm hoping that she doesn't start to go backwards. They took more bloods and sent us a letter to say she has a terminal deletion at the bottom end of her No4 Chromosome, I was not given the specific deletion but I have since asked the Paedeatrician what her deletion is. It looks like it is 4q34.1q35.2....I do not understand the scientific jargon! I only found out about the 4q Deletion Syndrome from doing research on the Internet. It is quite scary and daunting reading about everyone elses experiences but I know that every child can be so differently affected. Jessica is such a beautiful wee girl and I try not to worry about her future but I know that so far we have been very lucky as she seems mildly affected but I also know that we have to wait and see what will transpire. I am so glad that I have found this website and can talk to other people who know what I am going through. It can be a very lonely experience. Is there anyone else out there who's child has the same or similar deletion?