Interstitial Deletion 2q33.3-35

[traceybgibbons]

Hi. Our son James is now 15 months old. He was born weighing a little over 2KGs. He has a cleft of the soft palate (which he has just had repaired), a microthingy, hypospadius and a VSD (which has also been repaired). James has a deletion of 2q 33.3-35. We have been advised by the Growth and Development clinic that he is at the developmental of a 6-8month old. He weighs just under 6KGs (he is not putting on any weight at the moment, nor growing in length). He is an extremely happy child (laughs and giggles lots). Loves to sit in his chair and play with his toys, loves to lay on the floor and rolls everywhere. He is now on his hands and knees ready to crawl and he loves lots of attention especially from his two older sisters (9 and 3).

I would love to hear from anybody with a similar deletion and/or problems.

Tracey

[Anette Howell]

Hi there, I just logged in to check and see if there were any new members and I read your message. My son Sean, is 34 months and has a microdeletion of Chrom 2 on the long arm band 21.2-22. He was born with three heart defects, malrotation of the intestines, hirshbrungs disease, blood problems, a level one brain bleed, severe reflux, and most recently has been diagnosed with Cerebral palsy( due to a negligent delivery), seizures and a very rare malformation of the feet. Sean is my 3rd son and is also a very happy little boy. He has undergon 6 surgeries including open heart and intestine surgeries. He is not on any medical equipment and takes meds only for his seizures and reflux. Sean is also globally delayed. He is at a 1year old, at best, level and does not walk yet. The specialists seem to think he will walk but we have to wait and see. Sean has taught me a lot in life and I have changed and learned so much from him. I go through periods of "Why Sean" all the time but I am no longer in a denial state as I was. I love Sean so much and want him to reach his potential. I do get frightened when I think of the future but I try to live day by day. My biggest fear is thinking what will happen when me and my husband are gone? Do I put the responsibility on my oldest son, who is 12 years older? Do you have these fears as well? Do they know what your son's chromosone variance causes besides medical if anything? I wish you the best of luck and would love to see a picture of your little one. My story and photo of Sean should be posted soon. God Bless. Anette Howell

[Stephanie]

It is so nice that everyone is finally getting a chance to talk to eachother, as this was the reason for this board

Kane, who has a terminal deletion of 2q36.1 is also very delayed. He will be 3 in two months and he has learned to crawl finally but does not say any words other than mama. He can't walk or bear weight on his legs, but we are still very hopeful that he will soon!

I wanted to mention growth hormones because low weight and slow growth seem to be pretty common in our children. Kane started them in February and we have had to take time off during surgeries and recoveries, but overall they have been great. The most important part is that they have made his muscle tone better and he is stronger but he has also grown several inches, which he had not done in at least a year. He has not really gaineg weight because the hormones don't help with weight as much as length and strength, but I recommend speaking with your endocrinologist about it.

We have really struggled with weight issues. He has finally made it to a point where he is not losing weight though and that is all I can ask for. He is almost three now and my little girl just turned one and she weighs one pound less than him and is 2 inches shorter. People always think they are twins. I just let them think it sometimes because I hate having to introduce Kane as a "sick kid."

Kane has not had the same health issues that you both have mentioned but it does seem that heart problems and GI problems are a consistent finding in our kiddos. Kane just had a gastric diversion and esophago-jejunostomy, where they disconnected his stomach from his esophagus and attached the duodenum to the esophagus instead and it was supposed to keep him from refluxing, but lo and behold he is once again refluxing and mostly bile. This was surgery 12 and most of them have been GI related. Reflux seems to be a nagging and horrible issue among the 2q kids. I just wish there was a miracle cure for that.

Well, I was just so happy to see that we are gaining new members everyday and that posts are appearing and I promise to keep up better!

I will be posting the new Ask the Doctor questions on the website in the next week or two, but I will email when I do.

Take care and I wish you all the best!

Stephanie

[Anette Howell]

Thank you so much for all of your info on Kane. How wonderful that he is crawling! Sean can commando crawl but because of his low tone he has so much trouble in his upper body. I will talk to his pediatrician for a referral to see a specialist about growth hormones. Sean is also very young looking and people are amazed when they learn he is almost three. I do the same as you do, sometimes when I don't want to get into it, and just say he is younger than he is. How is your new little one? Is it really difficult taking care of a new one and Kane as well? I have two older sons and we were considering another. I have worries over having another sick baby. I know , though, that a younger sibling can encourage an older one to make more advances in their developments. My older sons are too much older to help with this. Thanks again and hope to here from you and other members again soon. Anette Howell

[Tracy]

Hello there Tracey,

My name is Tracy and my daughter Casey has a diagnosis of a chromosome 2q 37.1 deletion. As far as we know she is the only case we know of in the state ( missouri ) and very few in the U.S.

She was diagnosised at around 18 months. She is now 3 1/2 and doing fairley well. She didn't walk til she was 22 months old and is delayed in seveal areas but as far as we can tell doing fairley well. She is in pre-school this year and loves it.

She didn't have all the problems when she was born as it sounds many of the kids have had. She really to look at her has no problems, but there are.

The biggest thing I have run into is getting shuned by other parents ( not on here of course they are great ) due to the fact that to look at her you really can't tell there is anything wrong with her. The parents I guess are jealous or something. But the hardest part is not knowing what is or could be wrong. At least if there were something off from the start we would know what we are dealing with.

My hopes and dreams for her are like everyone elses for their kids to be the best she can be. You will have days that you as a parent feel great and like you can deal with anything and then you will have days that you just sit there and bawl.

But the best news is it is ok!!!!!!! You have us here, and you can chat at us anytime you want.

I would love to chat with you at any time. ( or anyone else for that matter )

[e-mail]

Just love them!! ( that is the fun part )

Tracy

[Shirleen]

Hi, Tracey. My granddaughter, Caitlin, has a chromosome deletion of 2q33-35 and we had been told that there is no one else in the medical literature that has her exact chromosome deletion and so when I read your message, I wanted to contact you to see what your experiences have been so far. Caitlin is almost 30 months old (2 1/2) and does not crawl or walk yet. We were told that she has low lower body muscle tone and the physical therapist is working with her to try to strenghten her leg muscles. She has a gait trainer which we are hoping will help in this process. She can roll around & sits up by herself. She also does not talk yet but is becoming more vocal & is trying new sounds. She is also working with a speech therapist & hopefully will be able to talk in the future. She had a cleft palate of the soft palate which was repaired a year ago in September at the Children's Hospital in Oklahoma City & she is doing well with that. She does not feed herself yet but is eating the toddler meals now. (She does, however, know what the sthingy is for & where it goes, so when we do let her try to feed herself she can get most of it in her mouth - if we've put the food on the sthingy first.) She also had a 3-part surgery when she was between 6 and 10 months of age to repair her "anal stenosis". She has been having problems with ear infections and has had ear tubes put in & then taken out again. She has had an "ABR" hearing test (sedated test) and we're waiting for an appointment with the audiology dept. at Oklahoma Children's Hospital to see if they feel she needs hearing aids.

Caitlin is a happy little girl most of the time although she is definitely getting a mind of her own, like a typical two year old! She & her mother (my daughter) live with my husband & me and it's a joy to have her here.

I would love to hear from any of you and as I said, I'm happy to find someone else to compare notes with.

Shirleen

[Jeannie Morales]

traceybgibbons said:

Hi. Our son James is now 15 months old. He was born weighing a little over 2KGs. He has a cleft of the soft palate (which he has just had repaired), a microthingy, hypospadius and a VSD (which has also been repaired). James has a deletion of 2q 33.3-35. We have been advised by the Growth and Development clinic that he is at the developmental of a 6-8month old. He weighs just under 6KGs (he is not putting on any weight at the moment, nor growing in length). He is an extremely happy child (laughs and giggles lots). Loves to sit in his chair and play with his toys, loves to lay on the floor and rolls everywhere. He is now on his hands and knees ready to crawl and he loves lots of attention especially from his two older sisters (9 and 3).

I would love to hear from anybody with a similar deletion and/or problems.

Tracey

[Jeannie]

I just found this site and I wanted to post a reply to all you. My son Jacob is now 5 years old and he has a 2q deletion 32.1-33. He was born with cleft of the soft palate, ASD, VSD and PDA (holes in his heart--corrected with medication and a button device) a microthingy (I am under the impression that is what Tracy is referring to when she says microthingy--corrected with hormone therapy). Jacob is relatively healthy now. His heart gave him great trouble and he was very small for the first six months of life (6lbs 11ozs at birth and only weighing 10 lbs at 6 months!). He had severe reflux for those months, but it subsided as soon as his heart was repaired. He was in preschool from the age of 3 years and did really well. Toward the end of preschool he actually began to seek out other children to play with but otherwise he had just sat back and entertained himself. He still does not speak, but he regularly repeats a sound that sounds like mama but he uses his tongue more and he never uses that word to get my attention. He loves to look at himself in the mirror and repeat his only sound over and over while he looks at himself. He is very happy and laughs all the time. He loves to play with monster trucks and Bob and Wendy dolls from Bob the Builder TV show. He does not walk yet, but he has the ability to take a few steps here and there. He is more frightened I believe than unable to walk. He always gets scared and gets down to crawl. He still has some feeding issues although its not reflux. He has trouble with certain textures and spits them out when ever he feels like it. Sometimes it can get messy. He is scheduled to have surgery on the 13th of September, 2005 to do a soft tissue release in the hip area and to reposition the degree in which his leg bones sit in his hip sockets. The doctors feel that this is part of why he isn't stable enough to walk independantly. He also suffers from what I think is constipation, he has had it since he was born, but sometimes its not an issue. However, he does produce very large bowel movements (sometimes I don't know how he passes them). There is a few more things that I haven't covered that are escaping me right now, but I am very relieved to find such a website that I can express my feelings and share my sons symptoms with other families with a similar experience. Thank you. Jeannie Morales