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Post by Rebecca on Mar 11, 2005 12:39:45 GMT -5
Sorry so long but the background story requires a lot of info! My name is Rebecca and I am also new to this board. My daughter Emily is 12 months old and was diagnosed at irth with chromosome 2q 36 terminal deletion. She was hospitalized from birth until 9 weeks old for feeding problems (she just wouldn't eat orally). She finally came home after surgery for g-tube placement, Nissen, malrotated bowels, appendectomy, and an umbilical hernia repair. Her surgeon said that her appendix was not in the corrent placement and that her liver was globular in shape. She also had surgery a few weeks ago for bilateral inquinal hernia repair (present since birth), incisional hernia repair, and tubes placed in her ears. Her other "differences" and health problems include horseshoe kidney (with no problems as of yet), prominent forehead with mild amount of excess fluid in her head ventricles, totally g-tube fed, and although her diet is strictly controlled with the help of a nutritionist, she has a tendency to gain weight and is my little chunky monkey. Emily also has been getting severe nosebleeds (sometimes my bathroom looks like a crime scene) with no apparent cause for the last 8 months. She is developmentally delayed and has just learned to sit up for extended periods of time. she does not talk, but she is a happy baby who often squeals, yells, and coos. So I guess she talks, she just doesn't say what everyone expects her to yet! I have yet to meet anyone with the same deletion as Emily (oh, by the way, it was not inherited). I've come across many families with a 2q 37.1 terminal deletion, but none with a 2q 36 like my Peanut. I am a stay at home mom, and Emily is our only child. She receives occupational therapy once a week, physical therapy 2x week, oral motor therapy 2x week, and early intervention (kind of a global cognitive therapy) 2x week. Between that and doctor's appointments, we are certainly busy! More recently I have started feeling as if I can't do this for the rest of my life, and I often wonder what she's going to be like. This would be hard on any relationship, but on a young newlywed couple it feels especially difficult. I get very frustrated when I see other pregnant moms who do whatever they want during their pregnancy and their baby is fine. Yet I did everything just perfect and had a wonderful pregnancy (aside from the fact that she was born 4 weeks early), a wonderful labor, and pride myself on being a wonderful mom. But, maybe that's Emily was given to us! I would love to talk to anyone who has any insight, complaints, words of encouragement, or who just wants to talk. I am so excited to have found this website and I wish I would have found it months ago. Thanks for reading!
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Post by Mr B on Mar 16, 2005 13:06:05 GMT -5
My wife and I have a nine month old who has the same type of chromosome deletion. It is very hard to find a lot of cases on children with this due to how rare it is.
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Post by karicasas on Mar 17, 2005 15:03:08 GMT -5
Dear Rebecca,
We are so glad to have you, and all of the other new members, participate in the Chromo-Zone. It is true that we have many more members with 2q37.1 deletion breakpoints, but you are not alone- there are others with 2q36 deletion breakpoints! We are organizing a national meeting for 2q families, and others interested in discussing chromosomal rearrangements, for this summer! Please let me know what topics are of most interest to you.
Thanks for sharing your story, Kari Casas Chromo-Zone Doc University of Oklahoma
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Post by Stephanie on Apr 1, 2005 22:49:12 GMT -5
It is soooo nice to hear of someone who has the same diagnosis as my son! I feel alone sometimes especially when his health problems overwhelm me. He is doing ok now other than the new battle with autism. He is on his third medication for it now, Klonipan, and next week he is having a helmet made because he beats himself up so badly and his head is always bruised.
I wanted to ask you, Rebecca, about the nosebleeds. Kane, my son, has them too. He gets them all of the time for no reason and it does look like a mess because it bleeds so violently sometimes. His clothes will be covered in blood but he acts just fine while it happens. We had a doctor tell us once that it was probably a vein or something that was bursting in his nose because it was superficial but I think it was a pat answer because he also said Kane would outgrow it. I am interested in what you have been told by your doctors regarding the nosebleeds. Kane has a g button and is fed only through the button. He is very small, not on the growth charts for height or weight. We constantly battle GI issues. He has had more fundo's than I can count and countless hernia repairs and now he has a different type of hernia, the incisional hernia. He actually has two of them that are large bulges in his tummy but the surgeon is afraid to put Kane under anesthetic again. He does not know that Kane would come of the ventilator and since it is not urgent, he feels we should wait a while to fix them. Kane does not talk or walk but he does crawl like a madman! He is the cutest and sweetest little boy. I would love to talk to both families with a 2q36.1 deletion. Please join the board so I can email or post your email addresses. You can also email me at kaneandashton@cox.net if you would like!
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Post by EmmysMommy on Apr 2, 2005 9:41:21 GMT -5
Okay, here's another LONNNNG one! Emily has been getting nosebleeds since she was 5 months old, she is now 13 months old. The first one she got was so scary, we went to the ER and she spent the night in the hospital as a precaution. We were literally just sitting there and her right nostril started pumping out blood. Sometimes she gets several a week, sometimes it's once a week, sometimes every other week. She got one in Wal-Mart one time--boy, was that interesting! I thought people gave us looks when I feed her through the g-button...people were asking me "Oh my God, did you drop her?!" We have been to three different ENT's, and I have been the most satisfied with the third one, although we really didn't get an explanation from him either. They just tell me they can't see any major explanation for the nosebleeds, just that her nose is very dry. I was always told the same thing: use saline drops. Those didn't do anything except make her mad. I have to admit that I didn't use them several times a day like I was instructed to do because they didn't seem to be helping at all. On her first birthday, February 23rd, she got another major nosebleed. While my husband and I were cleaning up the mess afterwards, I just felt fed up. I was so sick of the nosebleeds. I looked on the Internet for advice for nosebleeds, and some said to use saline in the nose, then apply Neosporin. The idea is similar to moisturizing your face after you wash it. I had never heard this before. Also, I remembered that when Emily was on allergy nasal spray, it was more of a nasal MIST, and she never minded that. It didn't make her gag, cough, or anything. So I found some called "Simply Saline Nasal Mist." I started using that religiously (four to five times a day, usually with diaper changes so it's now part of our routine) along with applying the Neosporin in her nostrils afterwards. She hasn't had a nosebleed since then. Not even a minor one (knock on wood). Perhaps it's just a coincedence, but this is the longest she's ever gone without a nosebleed. Regarding her other issues: She was born 4 weeks early, and I had an easy labor. She spent the first night in the NICU and 9 weeks in Special Care because she wouldn't take all of her bottles or nurse. She finally came home with a g-tube, and I haven't been able to get her to take any oral feeds since then. I do try occassionally, but it is unproductive and frustrating, and since she loves to teeth on toys and everything else goes right to her mouth, I don't want to cause an oral aversion by pushing her to take food. She has always been a fast heavy breather, and when she was an infant, she was very congested. That has gotten much better as she has gotten bigger. She is on Reglan for delayed stomach emptying, in some hopes for controlling her retching after feeds (which she only does about once a day now after the first feed in the monrning). During the surgery for her Nissen fundo and her g-tube at 8 weeks old, she also had an umbilical hernia repaired, malrotated bowels corrected, and her appendix taken out. We were told by her surgeon that her appendix was not located in the correct spot. Nor was her liver, which is also shaped differently. She has normal functioning horseshoe kidneys. She had surgery when she was eleven months old for tubes in her ears (she no longer has mild hearing loss), an incisional hernia repair, and bilateral inguinal hernias repaired. She pulled through both surgeries very well, and after the last one came home just a couple of hours after surgery. That always amazes me, as I completely expect her to struggle to recover. She rolled over back to front at 6 months old and front to back at 8 months old. She is sitting up independently (she started this at 10 months, although she can't get to a sitting position alone. She also does not try to stop herself if she begins to fall over. Her arms are a little shorter than they should be and she doesn't really like to bear weight on them. She is short for her age (but I'm only five feet), but she is a chunky girl. She is 27 inches long and 22 pounds, which puts her proportionately at like 99 percent. No explanation for this added weight, except that she has the appetite of a one year old but doesn't run around like one. I'm biased of course, but she is absolutely adorable. She is a very happy baby, smiles and laughs all the time. She sleeps wonderfully and is content to play by herself in her crib if she wakes up a little early. Just in the last few days she has started getting up on her knees and elbows and rocking back and forth for a few seconds at a time. She also loves to stand up, and can do so with very little assistance. She is still working on trunk control and keeping her head steadier. It is larger than average, and she also has excess fluid in the ventricles in her head (very mild, not even close to needing a shunt). Every week, Emily receives oral motor therapy, occupational therapy, physical therapy, and early intervention (global) therapy. Fortunately, they all come to our home. I can't think of anything else that I may be leaving out...I would love to hear more about Kane and what his life (and yours) has been like the last few years. My husband was so excited to hear that we had found someone else with the same deletion that he suggested we move to Oklahoma. Look forward to hearing from you when you get some free time!
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Post by Bill on Mar 13, 2009 16:54:01 GMT -5
Good Points __________________________ mmorpg
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