|
|
Post by Stephanie on Nov 20, 2003 2:16:53 GMT -5
This area is for pictures and stories. Post pictures of your little one and the story that has brought you to this board.
|
|
|
|
Post by krissysmom on Jan 8, 2005 12:01:52 GMT -5
Hi everyone, Ever since my daughter was diagnosed with partial trisomy 2 I have been searching the internet trying to find information and other parents who understand. I was so happy to finally find a website specifically for chromosome 2. I have a 14 month old daughter. She was diagnosed at 3 weeks of age. It came as a shock. Kristen was born a little early and had a lot of difficulty eating. We couldn't figure out why she wasn't making any progress. My husband and I just wanted to bring her home. The doctor finally ordered a chromosome test but didn't think anything would come of it. We had to use a Habermann bottle to feed her because of poor sucking. She had surgery at 3 months to correct severe reflux and place a feeding tube to give her extra help with eating. Developmentally, Kristen is at about a 9 month old. She has been getting physical, occupational, and speech therapy since 5 months of age. She has hearing loss in her right ear and wears a hearing aid. Kristen started sitting up on her own about a month ago. She is making good progress. I'm looking forward to her finally being able to walk. At least I think I am.  The feeding tube is out now and she doesn't have anymore feeding difficulties. I look forward to hearing from other parents and hearing their stories. Shara |
|
|
|
Post by catherine on Jan 1, 2006 9:26:17 GMT -5
hi shara,
my daughter also has a chromosone 2 abnormality hers is 46,xx,del(2)(q32.1q32.1)de novo.
we have been unable to find anything on the net about it my daughter is 8 but mentally 15-22 months.
she has a gastrostomy button,cleft palate,multicystic dysplastic kidney,malrotated bowel,she has had gromets in both of her ears,ornithine transcabamylase deficiency,severe developmental delay.
apparently doctors aren't sure what hers does as it's the only recorded case.
good luck with your little one.
from catherine
|
|
|
|
Post by Adele on Mar 5, 2006 23:35:25 GMT -5
:)Hi Shara and Catherine:
My Daughter was diagnosed with chromosome 2 abnormality 46,xx, del(2) (q37.2) recently. She is 4 year old now. She had feeding difficulty before she was two. She got herb and acupuncture treatments about half year to help her eating and walking. She was able to walk when she was two and half. Now she eats well, but her development is delay. She had beautiful hair when she was born, but she lost her hair when she was 9 month old, and her hair did not grow back yet. She is happy and has great smile. I am glad to find you and share our stories.
Best wish to your children
Adele
|
|
|
|
Post by josiah02 on Mar 13, 2008 20:30:41 GMT -5
HELLO EVERYONE,
When i saw there was more of you with children like my jade i started to cry. all dr.'s have told me is how rare it is to have a deletion 2 and i am just now finding this site....Jade was born five weeks early weighing 4lbs she had a sub mucus cleft palate, very poor eating we also used a haberman feeder, and she also had a feeding tube. (it was removed a age 3) she has hearing loss mostly in her right ear and me in her left she now has eye glasses for very poor eyesite (people say they look like coke bottles:( ) but she is very happy go lucky. she is now 4 years 4 months old with a deletion @2, 33.1Q-35.Q. she started walking about a year ago still with lots of falls, she does not speak mostly screams get her point across. she is at the stage of maybe a ten month old. she has epilepsy with tonic clonic seizures that are now controlled by meds twice a day. my daughters hair also will not grow it is very thin and some of it is long right on top but not really it is hard to explain. i also have two physically normal children 6 year old boy and 8 month old girl. please keep me posted would love to hear from mor of you seeing as our dr.'s here are not much for help or support
|
|
|
|
Post by Mona on Apr 29, 2008 18:31:31 GMT -5
Hello everyone! I am from Sweden, and are, like all of you I guess, really happy to have found this place!! I have a daughter named Lilja. She turns 4 june 18 and has a Microdeletion on chromosome 2. There is NONE information about that thing anywhere... =( She almost was born at 33 weeks, but the doctors stopped it, and as I stopped the drugs, she was born 2 days later, at 37+2 weeks. She didn´t know hos to eat so she had a [something] thru the nose. After two weeks I was ablo to breastfeed her and did so until she was 16 month. She was born with club feet and had surgery and unusually long treatment with casts and special shoes. She started crawl at 13 month, and walked her first steps at 20 month, before that she was knee walking. She says Mom, Yes, No, Quiet, and maybe some more words, in swedish of course...  We do sign language with her, and she makes her point with that and bpdy language. She understands what we say, but does NOT know under-over etc, not yesterday-today, sometimes she doesent even know "It´s under the chair, on the floor" and so... She uses diapers at night, not at day since a year. She plays well with other children IF they are "open minded" ... You can tell, some kids dont know how to "handle" Lilja. She has a little hearing loss, but npthing that would disturb the spoken language. I am SOOO curious to see pics of your kids!! Here are my children and me and my husband: sisu.blogg.se/foton.html |
|
|
|
Post by Mona on Apr 29, 2008 18:33:40 GMT -5
Hello everyone! I am from Sweden, and are, like all of you I guess, really happy to have found this place!! I have a daughter named Lilja. She turns 4 june 18 and has a Microdeletion on chromosome 2. There is NONE information about that thing anywhere... =( She almost was born at 33 weeks, but the doctors stopped it, and as I stopped the drugs, she was born 2 days later, at 37+2 weeks. She didn´t know hos to eat so she had a [something] thru the nose. After two weeks I was ablo to breastfeed her and did so until she was 16 month. She was born with club feet and had surgery and unusually long treatment with casts and special shoes. She started crawl at 13 month, and walked her first steps at 20 month, before that she was knee walking. She says Mom, Yes, No, Quiet, and maybe some more words, in swedish of course... We do sign language with her, and she makes her point with that and bpdy language. She understands what we say, but does NOT know under-over etc, not yesterday-today, sometimes she doesent even know "It´s under the chair, on the floor" and so... She uses diapers at night, not at day since a year. She plays well with other children IF they are "open minded" ... You can tell, some kids dont know how to "handle" Lilja. She has a little hearing loss, but npthing that would disturb the spoken language. I am SOOO curious to see pics of your kids!! Here are my children and me and my husband: sisu.blogg.se/foton.html You have to scroll a bit... There are a lot of pics of me and Liljas brother... =) |
|
|
|
Post by Amanda on Mar 16, 2009 1:57:31 GMT -5
Hello, My daughter's name is Cali. She is 2 yrs old. She was diagnosed with micro deletion of chromosome 2 p16.1
Like all of you it was very hard finding similar diagnosis. The doctors told us this was a newly emerging syndrome, and there were only four other noted cases. They said the others were alot older in age than my daughter they also vary in severity. All or many of the patients had:
*Moderate-severe developement delay
*Short stature
*microcephaly
*long straight eyelashes
*short palpebral fissures
*high palate
*broad & high nasal root & prominent tip
*everted lower lip
*widened internipple distance
* optic nerve hypoplasia (vision poroblems)
*hydronephrosis
*autism/ autistic characteristics
They also said they anticipate that she is at significant risk for continued development delay and mental retardation.
We have come a long way. When she was born she had eating issues at first. She receives physical therapy, speech therapy, occupational therapy. She just got glasses and is progressing.
|
|
|
|
Post by cptrace on Jan 4, 2010 9:12:44 GMT -5
Hi All..
WOW as a mother of a 4 1/2 year old boy with a Chromosome 2 abnormality I am so happy to have come across this site..
My some was born full term, no problems. He cried 24/7. Drs kept telling me there was nothing wrong with him, he was slow, but all boys were...there's nothing wrong with him.... I kept fighting and fighting to find answers as he was never a settled baby. They told me it was my milk, then he couldn't feed properly, he had reflux, he was aspirating, what I was eating was upsetting him... they were right about the feeding, the aspirating, but wrong about not having anything working with him. It was a matter of time until I got my answers...
He bottom shuffled at 13 months, crawled at 14 months, walked at 21 months.
At 2 1/2 he was diagnosed with uncontrollable - severe epilepsy. Has seizures ranging from absent, tonic clonic,clonic, tonic, myoclonic. Under goes constant medication changes. Is delayed - non verbal (expect for a few words), not toilet trained and requires assistance to feed, dress etc.
After having routing genetic testing done, dna, angelman syndrome, fragile x... etc, he then had SNP Array testing.
In Nov 2008, he underwent SNP Array Genetic testing as it was suspected he had Dravet Syndrome, but found out it is not.
We were told he had a Chromosome 2 deletion: del (2) (q22.3q23.1) and involves four genes: ACVR2A, MBD5, ORC4L, EPC2.
We have been told that two of these four genes are the only type of defects known in the world...judging by all your responses, clearly the chromosome 2 has over lapping issues with mental retardation, delay, epilepsy, autism, microcephally, short statue etc...
I suppose the hardest thing I find is not knowing what the future holds for our little angels... having such a rare condition is the unknown. We live in Australia.
Keep up the good work all you parents and carers out there!!!
|
|
|
|
Post by Hira84 on Mar 7, 2010 23:01:24 GMT -5
Hi
my son is 6 months old and diagnosed with micro deletion in 2 p 16.1-15-14 region...
I read Amenda's post...that is is almost in the same region... I wana know How your daughter is doing??
and what was the symptoms when she was born...........plzzzzzzzzzzzz reply im really worried.....
TC
|
|
|
|
Post by wwwcc236com on Jun 25, 2011 7:19:32 GMT -5
|
|
|
|
Post by Melissa on Jul 15, 2011 17:43:28 GMT -5
Hello everyone. I am so glad to have found this site and hopefully will get some contact with some of you. I have a 10&1/2 month old daughter named Savanah. She has a chromosome microdeletion estimated at 2q23 and 2q24.2. This region includes the ACVR1 gene and we have been told to watch for symptoms of F.O.P. I had a problem free pregnancy and birth. Our doctor suspected something when she was born because she had no big toe on either foot. She also had a really weak cry and a small jaw. Both of her thumbs are small and crooked. She had feeding problems right from the start and needed a feeding tube for a few months. We have been able to wean her off of that but now I spend A LOT of time feeding her. She drinks really slow and just small amounts at a time. She will take a few teasthingys of solids each day, but otherwise only takes formula from a bottle. I hardly remember the first 5 months, she cried all the time. She had a bad case of reflux and seemed really sensitive to the environment around her. Finally at around 4 months she started to smile and coo, which we thought was fantastic! She started enjoying her swing and loved going for walks in her stroller. However at around 5 months she developed infantile spasms and was diagnosed with West's syndrome. She lost her learned skills of smiling and cooing and her muscle tone become worse. She has responded very poorly to the medications and still suffers from regular seizures. She will occasionally smile now, but doesn't coo anymore. She has not developed any other skills and is still like a 1 month old. She has very poor eye contact and will not track anything, she also does not turn towards sound, yet it does appear that she can hear and see. We're just not sure how well. We are now seeing a physiotherapist and occupational therapist and she is getting fitted for a grip system seat. She cannot hold up her head and yet is now outgrowing all of the newborn seats/swings etc. This has been very frustrating to transition to other equipment and yet she has the "newborn" needs. I have found that there is little literature available for her diagnosis and most of the doctors are very unfamilar it as well. We have only been given very vague answers as to what to expect in the future. We usually get the answer that things look "poor". There are also so few support groups available. I would love to hear from you, your experiences, your sorrows and also your joys. Savanah is our only child and we love her to bits!!!
|
|
|
|
Post by Monica on Aug 4, 2011 22:22:00 GMT -5
Melissa,
My daughter is almost 10 months old and has the deletion 2q23.3q24.2. I hope you see my message. Like you said, there is very little information on this deletion. The most useful information I have found is through a website called Unique, address is rarechromo.org. You can register with them and they will give you contact info for other people registered with deletions in the same region. I know there is one other registered with the deletion 2q23q24.2. Although characteristics can vary greatly, even with the same deletion, it is so helpful to contact people in a similar situation. I'd be happy to keep in touch and share info with you by email mjr41979@yahoo.com.
|
|
|
|
Post by CGJohnson on Sept 13, 2011 21:08:08 GMT -5
My daughter Charlea is going to be 7 years old next month. She has a terminal deletion on chromosome 2q 36. It's a mosaic deletion. I had a normal pregnancy. Charlea was delivered at 40 weeks via a c-section. When she was born she had dislocated hips and a short ambilical cord but the doctors did not seem concerned by this. She was not a great eater as an infant because she had a hard time sucking on the bottle. Around 3 months of age, we took Charlea to the doctor because she seemed to have a bad cold, she wouldn't eat and was very fussy. The doctor sent us home and said it was just a cold. After a few days, she still was not well so I took her back to the doctor. He listened to her and watched her and sent us right to the hospital across the street where they did e-rays. They discovered that she had a diaphramic hernia that needed immediate repair so they took her by ambulance to the children's hospital in a near town. After that, the doctors recommended genetic testing to see if the problems were related to a chromosome disorder. That's when we found out of Charlea's deletion. Charlea has had many sets of tubes but in her ears and she has her tonsils and adenoids removed. Aside from that she has been pretty healthy. That being said, Charlea is severely mentally and physically delayed. She crawled for the first time at 19 months and walked for the first time around 3 years of age. To date, she still does not talk at all. She has zero words in her vocabulary. I gather from reading the previous posts that mental and physical delays are common. How are your children doing with speech? We feel like we have tried everything in the speech world and have had no luck. Any help/feedback would be appreciated. Thanks so much and god bless all the special kiddos in our lives. They are a blessing.
|
|
|
|
Post by Lana on Oct 18, 2011 12:29:22 GMT -5
Just like Melissa, I have a child with deletion in all regions 2q23 to the region 2q24.2. (per Shands).. His name is Derek and he just turned 6 yrs. old. He was born with cleft pallet (not lip) and a resessed chin. (prob due to the pallet) He drank from haberman for a yr untill he had his pallet repair. Then he had a fistulla in which needed to be repaired. He then didnt drink anything for one yr. he recieved fluids through baby cereal and watery vegs. This is because Derek never learned how to suck. I buy bottle nipples and slit the opening wider. he now also uses a sippy cup. He also has optic nerve hypoplasia. which is the last surgery he will have from the findings at birth. He just started walking and we are very excited! He has never had alot of interest in toys only tv but they have to be shows in which he is familiar with. He knows as soon as a Spongebob episode comes on (subtitle) if it is one that he likes or not. He is scared of some of them. When he is frightened, he bangs his head on the floor. He is also afraid of sound of plastic bags and people standing in doorways. We have had alot of obstacles some very similar to you guys and I'm so excited to share information with all of you. The Drs. are really no help. Shands told me that there have only been a couple of cases documented and even though they have this child right in front of them, Why Not Document Him?? right? So much to say. Will be looking forward to reading more post from you all.
|
|
