What kind of Chromosome Disorders do your kids have?

Katie - posted on 05/14/2013

Hi ive just been told by a pedatrition that my little man william is delayed which i new anyway hes now having blood tests for chromosone an muccles ect just waiting in results they also want him to have a mri scan if bloods are all ok they also said that he is showing traits of autisim im so worried an going out my mind can sombody explain the tests.for.me an what can be detected in the chromosone test pls x

Katie - posted on 05/07/2013

I am new to this group. I am 22 weeks pregnant and my baby was just diagnosed with a RING 15 Chromosome disorder. They have not been able to assign a specific syndrome to the baby yet, but they told me the outlook is not good. Currently our baby is about 3 weeks behind on growth, has Dextracardia (heart on the right side of the body), and enlarged kidneys, possibly horseshoe kidneys. They keep telling me prognosis is not good because the baby is so small. Has anyone else experienced anything like this? How did the rest of your pregnancy continue? etc. Any information would be greatly appreciated. We just want to know how to prepare. We currently have a 2 year old boy. At 6 weeks he was diagnosed with an AV Canal and had open heart surgery to correct it. Had some feeding issues after surgery and ended up getting a G-tube. He just had his tube removed this past November but we continue to go to feeding therapy. The drs do not think anything is connected with the 2 babies, but may have our little guy tested. Just want answers....

Cindy - posted on 05/04/2013

My son Charlie will be 2 next month. He also has 16p 11.2 duplication. He is not walking yet by himself. I have been working with him on the push toys. he seems to do fine but he walks with his legs out to far and at times his feet turn out. Charlie does not speak any words except my momma. He begin saying that before he was a year old and is the only thing he has said before and after his cleft palate surgery. We have an early intervention who comes out to work with him, but I do not feel as if she is helping much. He has learned to do three signs but I think he is confused about what each me. I tild the SI that this disorder may mean autism in the future but she said she does not see autism and I should ignore the behavior that he does. This is Charlie I will not ignore him.

Kelli - posted on 05/02/2013

Hello, my son is 2 and a half. Last summer he had genetic tests done. They revealed that he has a partial duplication of the XP 22.33 chromosome. It does not include the Shox gene.

Dawn - posted on 04/12/2013

My 9 year old son was recently diagnosed with 3q29 deletion. Anyone else out there with the same syndrome?

Carmelita - posted on 04/11/2013

Sorry I did not finished she is equivent to 6 months old I made lots of mistakes. She has thought me much

Michelle - posted on 04/10/2013

Depends on what part of the chromosome there's a problem with & what kind of issue. Somewhere in my house I have a poster with a whole bunch of stuff listed for all of them. This is a closeup of #10. http://www.google.com/imgres?imgurl=http...

Angela - posted on 04/09/2013

Does anyone have any information on the chromosome 10? My daughter is pregnant and was just told there may be a problem. What are the chances of this? Is it common? What kind of problems is she looking at for her baby?

Leanne - posted on 04/01/2013

We are in the process of adopting a little guy with a chromosome 2q duplication (2q 36.3 to 37.1). We have started an online support group on facebook to hear about other stories along their journey. Please join us at: https://www.facebook.com/groups/428138540612297/#!/groups/428138540612297/

Beverly - posted on 03/19/2013

Hi, Krzyk is my grandson and he was diagnosised with a chipped 5th chromosome disease and I m wondering if it can be repaired? He didn't start walking til he was right at 3 years I think he s been walking for a pretty good while now. He is 5 now and this is his 2nd year in school he goes to pre k 1/2 day and k the other 1/2. His not really talking but is saying few words his a miracle baby he was born 3 months early. My husband could whole him in one hand at birth that s how small he was. I m going to tell my daughter monique about this website I think she will enjoy it. When he was 1st born his first year he spent most of it in and out of the hospital he would stop breathing and she'ld have to stop if she was driving and perform cpr and they'ld be off to the hospital for 2 weeks or longer.
for a long time he was just like a little dish rag flip floppy,but God What God can,t do no one can. God brought him through. I don't know if you've ever seen or know of the Ben Carson story. He 's a doctor at John Hopkins Hospital in Baltimore I m hoping he can help. May God cont. to bless all of you wonderful mothers keep your head up for God is your help and will always be your help.My grandson is so intellgent and smart just can't talk he is sweet. God Bless you Mothers.

Shanna Diane - posted on 02/20/2013

I am a mother of two. I have a great son thats 5 years old and a daughter that will be 2 years old Feb. 28. She has unbalanced translocation of chromosome 10 and 11. She was born with a cleft palate which was fixed when she was 8 months. Shes had two sets of tubs in her ears, and last year she had open heart surgery to fix a hole in her heart. No crawling or walking yet. It will just take her a little bit longer than other babies. She is healthy and happy. I dont know what i would do without her. Shes my little angel.

Carmelita - posted on 01/28/2013

I am new and old. My daughter is42 she has transfere chromosome diodes I am 72. Lots of experience need more information still learning

Pam - posted on 01/24/2013

My son has been diagnosed with a chromosome 16p13.3 deletion syndrome.

Maili - posted on 01/14/2013

Hi my son is 3 years old and was diagnosed with autism in June 2012. They did a blood test a s said he has a chromosome abnormality and they do not know what it is. We have been waiting for four months for his appointment with a geneticist which is finally next month. Any advice will help, I've been researching a lot and Judy would like some advice

Joni - posted on 12/19/2012

Hello moms maybe someone can tell me what is means to have too many 6 and 9 chromosones?

Shatasia - posted on 12/05/2012

hi I am a mom of a two year old little girl name ariana she has a very rare condition as well. Ariana was born at 35 weeks born with a diaphragmatic hernia where her intestines was in her lungs. At just 3 days old my baby girl under went surgery in which that was repaired. After this she was tested for many things manly to see why was she born with this birth defect in doing so doctors found out that ariana was born with chromosome translocation of a chromosome 7.12 deletion and a duplication of chromosome 12. Throughout everything Ariana is fairly smaller than other children but has always been under the growth chart in weight she not so bad in height. She has sever ACID REFLUX and has been treated for that her entire life she always been smaller because she excessively completely spit up everything after every meal. Just this year right after her 2nd birthday which was oct 14 2012 she receive 5 surgery's where her appendix was taking out she had a lads procedure to completely enabling her to vomit a umbilical hernia repair and a gtube placed in and during surgery the surgeon said all her organs were pretty much pushed up together so he also put things in place. As of now she is very delayed in most areas she 2 and isn't walking or talking she commutates through different yells and cries and she crawls normally to get around she has a 4 month little brother name KJ who is a completely healthy big guy. Their dad carried the same trait but is chromosome where balanced so before my daughter was born he never knew. so there you have it we have one child born with a few complications' and another completely healthy. Ariana is a really sweet loving kid it take her awhile to understand things but she learns through retinues playing and reception. As most two years old do it just takes her longer she know her feet head comb her hair to stand to sit come here and stop she been crawling since age 1 and sat up at 8 months she been holding her bottle and finger feeding since 1 as well. at two we are working on speech being she still doesn't talk so communication is a must walking I believe she will be by the end of the month she been cursing the furniture for about 3 months now and we want her to potty train and try to get her learning recognize pictures and items in the meantime I do believe that one day Ariana will be able to sit in a group with children her own age and not seem so delayed oneday but for now im just looking for her to meet her full potently and that's all that matters I love and support her and encourage and am proud of every accomplishment she has made and and looking forward to the new ones she will make in the future.

Elizabeth Maria DeTemple - posted on 11/14/2012

Hello, My name is Elizabeth, and My son Lucas is 2years 11 months old now he was born February 1, 2010 Lucas was born at 37 weeks 2 days old. He was born with a Pierre Robin Sequence, Cleft-palate, a 3p12.3p11.2. All i was told about this chromosome material is that is has a potential to cause some health issues... Significant Deletion at least 9 genes in this region Lucas has one copy fo all of these genes. They say the deletions of 3p are rare and some of the features that are affected is heart finding, Disinct facial features found in some patients. Lucas has a difficulty gaining weight. He had a cleft-palate and not the cleft lip. Lucas has Reflux and Eye Finding, He had 2 eye surguries already along with two sets of ear tubes placed. He had a fundoplacation done at 2 weeks old and a g-tube placed. Just recently he was able to have his feeding tube taken out although he a long way to go with him having developmental delays. thay also say there are kidney an brain findings. We have been following up with the Ophthalmology, Neurology, Cardiology, Cleft-Palate Team, Urology/Nephrology and Early Intervention. Does anyone know anything else i could learn by someone elses experience? Thank you

Carol - posted on 09/16/2012

Hey, I am a great grandma with a beautiful little great grandbaby with a partial deletion of chromosome 7q 31.3. She is a year old now, weight 11.11 pounds and is 22 inches long. Loves to roll, having problems using her arms and holding her head up whil trying to crawl. Has not been able to suck a bottle, so she gets tubing feedings.

Would like to talk to anyone with a child with this same condition. My granddaughter has been told that they are not sure what her limitations will be since it is very rare.

Joanne - posted on 09/15/2012

i have a little boy called tylor. he turned 3 in may. tylor has chromosome 16p 11.2 duplication, joint hyper mobility syndrome, autism, global development delay. he also suffers from lots of sensory issue to touch and sound. hes got the development age of a 12 month old. even with everything going on his body hes still such a loving happy little boy. he is always laughing. he is still rying to figure out how to walk ut doctors are not sure if this will be posible anytime soon the same as potty training. i havenot yet found anyone else who has the same chromosome problem as tylor but i am hoping to soon. tylor didnt st up un attended till 13 months, didnt crawl till 21 months.he s saying about 3 single words at the present time and tring to form a sentance but can not yet manage itand gets really angry with himself when he cant do something.

Ena - posted on 09/14/2012

my son it 3 almost four dec is his bithday he has 3q29 deletion. idk what kind of problems it may come from this because he was born at 24 weeks and 1 day as well so i do not know if its from his chorm disorder or hoim being born at 24 weeks it made me really sad when i learned about the 3q29 deletion becaused how unlucky can myboy be two things working not in his favor.... his a happy boy and his learning how to talk and getting potty train ya im very glad of his school and what they do for him

Nicole - posted on 09/14/2012

Hi

My youngest daughter Gabriella is 3 years old. She was diagnosed with autism, 1q21.1, and xp22.33. Her chromosome 1 deletion is in the TAR region while her chromosome X duplication is in the SHOX. Gabby was diagnosed with autism a few days before her second birthday.

She had severe acid reflux as a baby as well as food intolerances. At this time she also presented with a smaller head, doctors claim only within the 3rd percent tile. She also struggled with OCD, PICA, and major anxiety issues.

Right before her second birthday I put her on a very strict diet. This helped her food intolerances and acid reflux immensely. I also took her to a holistic physician whom put her on vitamins, minerals, homeopathic and holistic supplements. This helped regain her speech she has once lost, it also helped greatly with her social skills and major sensory issues. I felt we were making great strides but still felt I was missing something. I requested genetic testing when Gabby was about 2.5. A little before her 3rd birthday I learned of her genetic disorders. I have also been tested, I have was found not to have any known genetic abnormalities. We continue to seek out holistic intervention today because the amazing changes it has contributed to.

Gabriella is now almost 4 and shows no signs of any developmental delays, she is now growing and thriving and her head is within the 7th % tile. She has really defied all odds at this point.

My only concern at this time is I found her hair is thinning on the right side of her head. I requested thyroid tests that showed her tsh was at the highest end of normal, while her t4 was on the lower side (but still within normal range). The biomedical approach to autism suggests that she should have hormone replace therapy.

I have sought out multiple doctors 2 neurologists, 3 pediatricians, 2 geneticists,1 developmental pediatrician and 1 holistic physician . The only one that has been of any help to us was the holistic physician :(

The lack of knowledge and communication amoungst the doctors often scares me.

Michelle - posted on 09/11/2012

Angelina, feel free to contact me & we can chat.

Angelina - posted on 09/10/2012

I'm new to this. I read Galloway's post OMG! we need to talk,

Hi my name is Angelina. I have two children a daughter, 13 who is a GT student and my Noah, 3 he has an 11th chromosome deletion. He has a processing and speech delay however very smart. He has allergies, eczema and is hyperactive. I to have been told that he has an auto- immune system issue. We still need more testing and I have so many questions!

Everyday is differant for us. Somedays our Noah is connected, speech will be clear and other days he will regress. Thank you for sharing! and I Thank God the site came up.

Pam - posted on 05/01/2012

My son has a chromosome 16 deletion. We adopted him at 9 months old and he turned 5 in April. He was born with a cleft palate. I don't know much on the birth mother except she is considered mentally retarded. I refuse to use those words to describe my son. He is developmentally delayed and is perfect ( I am biased). He has been in speech, cognitive, and physical therapy since coming to our home. I was told he would never walk or be able to do much on his own much less communicate with us. He started walking or I should say running about age three. We had a wonderful speech therapist who taught him sign language as well as oral. He communicates just fine. He has started using sentences during the last few months. He does have medical issues such as asthma and acid reflux. He is on breathing treatments daily and takes a couple of other medications.
The Genetics Doctor has been vague on this chromosome deletion. He said it can be characterized by developmental delay, intellectual disability, and/or autism spectrum disorder. Any information that some of you may have would be appreciated. Thanks!

Michelle - posted on 04/29/2012

Rereading my previous posts made me realize that the old info is wrong. Aiden has 22q11.2 microduplication with ASD, ADHD & OCD tendencies. He escaped almost all the major organ problems the DS kids have. Immune function came back normal but he's had MRSA several times. Testing came back for the rest of us. I have a larger duplication than Aiden but I also have 22q11.2 microduplication. Testing is going on now due to my own health problems that I've had for a while & a recent loss to our family. I delivered a sleeping baby boy at 15 weeks gestation. No one was able to tell me why this happened but they're thinking my structural problems (my uterus is tipped & wither septate or bicorniate) & genetics played a role in it. My husband Jason & my son Torin share the exact same 12q21.31 microdeletion. Jason is moody & has depressed episodes whereas our son is now starting EI services for his poor social & emotional development & his cognitive problems. Our pediatrician says he needs an eval with someone else but he thinks Torin may be PDD. He's bright but sometimes he doesn't understand & he has also lost some skills like sharing & taking turns that he had mastered before age 2. He's very sensory especially in the oral & proprioceptive sense & will be starting feeding therapy soon. I've been wondering if it's not benign like the genetics folks said but rather variable like the 22q duplication is.

Also, I didn't realize I never posted this info for the 22q families. c22c.org is Chromosome 22 Central. They help people with all kinds of 22 disorders including Cat Eye Syndrome, Emanuel Syndrome & 22q del/dup. They have a facebook page too.

Kathy - posted on 04/28/2012

My name is Kathy Davis and I'm expecting a granddaughter in July, 2012. She has spina bifida, cleft palate, bilateral cleft lip and is very low weight. Genetics testing showed she has a duplication of the Q band of chromosone 2. Can any one tell me about this?

April - posted on 04/27/2012

my daughter has a microdeletion of 2q23.1, she is 10yrs old. We found out 2 years ago. we were told that there were only 15 other children that had this at the time and now we have a facebook page with a lot of children. the drs are saying it causes autism. my daughters cerebellum stopped growing also so she has really poor motor skills.
do your children walk, if they do, do they walk with a wide gait and hold their hands out for balance?

Michelle - posted on 03/24/2012

April, my oldest son, now 5 1/2, has 22q11.2 duplication. My story's not the same, but the syndromes are similar.



Since my last post, we've been though a ton of things. We found out Aiden's little brother has 12q21.31 deletion & so does my husband, learned more about 22q duplication & found out that both myself & my sister have it too.



Believe it or not, I found a lot of support on Facebook. I belong to several private groups there where I can talk about SN in general or about the specific disorders my kids have.

Lisa - posted on 03/23/2012

Hi, my name is Lisa and my daughter has just been diagnosed with 1q 44 duplications. I was just wondering if there is anyone out there with the same diagnosis or has any information on this duplication as at the moment we have no information at all. Jamie- Leigh was born with facial asymetry, severe brachecephaly, curled pinky fingers, she has never been able to feed properly and has high calorie shakes to try and keep her weight up. She also has mild sunken chest, prominent forehead, small chin, tongue-tie she is also very slim for her age probably due to her poor eating habits. She has been slightly delayed in meeting her milestones and she very hyperactive but she is also a very happy child most of the time. Any advice would be more than welcome.

Marie - posted on 02/20/2012

My DD just turned 2 on Friday, as a birthday gift we found out she has a deletion on 15q13.1-q13.2. Our geneticist has literature on only six cases and very little information. We are wondering if anyone has this deletion or knows where to find info about it. I have googled it, checked Unique, and find nothing. She has had issues since I was about 20 wks pregnant, and is now followed by 11 specialists...Any help would be appreciated.

Rashonda - posted on 04/08/2011

Hi, my son is 19 months and has a chromosome 1q42 duplication and 44 deletion he belly crawled at 13 months and hands and knees crawled a few months after. He is delayed in all of his milestones. His dad and I were both tested and do not have any chromosome abnormalities. When I see other children his age, it really hurts me to see the things that they are doing and my son is not but he is making steady progress, which is a blessing

April - posted on 03/23/2011

My son is 3 1/2 and was diagnosed sometime after he was around 4 months old. He has Di George Syndrome with an ASD (minor thankfully), really bad GERD, globl developmental delay, slight immune problems, chronic respiratory issues, micrecephaly? (pretty normal for the syndrome), bad scoliosis, and polymicrogyria (not associate with Di George) but probably the cause for his motor problems. He has had a gtube and nissen fundiplication surgeries, as well as a laryngeal hemangioma removed. He doesn't speak but does coo and grunt. Although no speech, he is able to convey his emotions through the different sounds he makes. He has PT, OT, feeding clinics, and Speech therapies. Through all this he still has a really great disposition and will give a great big smile even after a bad vomiting episode. Hoping this group will put me in touch with ANYONE with a similar story. Thanks for reading:)

April - posted on 03/23/2011

My son is 3 1/2 and was diagnosed sometime after he was around 4 months old. He has Di George Syndrome with an ASD (minor thankfully), really bad GERD, globl developmental delay, slight immune problems, chronic respiratory issues, micrecephaly? (pretty normal for the syndrome), bad scoliosis, and polymicrogyria (not associate with Di George) but probably the cause for his motor problems. He has had a gtube and nissen fundiplication surgeries, as well as a laryngeal hemangioma removed. He doesn't speak but does coo and grunt. Although no speech, he is able to convey his emotions through the different sounds he makes. He has PT, OT, feeding clinics, and Speech therapies. Through all this he still has a really great disposition and will give a great big smile even after a bad vomiting episode. Hoping this group will put me in touch with ANYONE with a similar story. Thanks for reading:)

Michelle - posted on 03/06/2011

hi my son is turning 5 this april, after about 2 and half years of going through different tests we were told that they had found two chromosone abnomalities, these were on chromosone 3 both ends of the chromosone are doubled up (duplicated). The middle of the other seems to have, in there words "fallen out" or has been "deleted" they said it was on the 3 q band I have no idea what this means for my son as the doctors nd consultants seem baffled by it and apparently this has never been seen or found b4? both myself and his father have been tested and we are not carriers, i have 5 other perfectly healthy children that r not affected. i have no idea where to start in getting help for him, we have been left with absoloutly no idea what the future holds for him? Anybody out there going through the same thing or have any information that i may find helpful please reply bk. many thanks, shell.xx

Heather - posted on 11/15/2010

Hi Heather, I am also Heather Cramer. Great Name! I come from a family with many people with an unbalanced chromosome disorder, 2 brother, cousin, and now my son. I grew up quickly and was quick to defend and fight for my brothers. Luckily we found great people in our lives who accepted them and we live in a community where they are very active and respected. Now that I am a mother of a 4 year little boy with the same issues, I see the same things happening to him as I did my brothers- only this time I can not fight the culprits, because they are kids too. It hurts, but i have come to realize that kids are just kids and different is scary to them. Adults don't seem to bad anymore with the acceptance of disabilities in the country improving, but there are some that stare or worse take their kids away from playing with him. I write them off and feel bad for them because they may never be able to fully appreciate the first step, or first word parents with SN kids are able to. Although the sadness creeps up sometimes, we focus on what our son can do, and by encouraging him he has developed much further than if we only saw negatives. My parents taught me by raising my brothers in an active community that by -not giving kids or people the chance to get to know them, that we were not being fair to my brothers. I am raising my son the same way. Your son is going to teach you more than you can ever imagine. Keep in touch. h

Heather - posted on 07/09/2010

Hi my name is Heather Castelan, I actually just joined this group. I have two sons my oldest is matthew and he just turned three last month and is "normal". Than i have my David he will be 11 months on the 27, and we found out back in February that he has a chromosome deletion on his 9p at his 22.2 to the end. He has global delays, and has the triangle head with it, we are actually going to be having surgery on his eleventh month birthday to reshape his skull. How do you parents with children with delays deal with it looking at other children the exact same age that are so called "normal" and doing what they are suppose to be doing without feeling bad for your child? It makes me sad when i see other kids doing things that my david will not be able to do in a long time. He will eventually, but not for awhile.

Michelle - posted on 05/27/2010

In addition to CDO there are other organizations. UNIQUE is worldwide & based in the UK. I'm registered with both.
www.rarechromo.org/

Tasia - posted on 05/27/2010

Hi there, i have 2 children who both share the same Chromosome Disorder, Floreign is 2 1/2 and Josiah has just turned 1. My children have an unbalanced chromosome translocation of chromosome 1 and 3. I was also told that this disorder was very rare, Ive never met anyone with with a child or who knows anyone with the same translocation, Both my children are delayed with reaching their milestones. They both are very happy children.

Michelle - posted on 02/12/2010

I figured I'd better give you all an update. We went to CHOP & we have to go back for a lot of testing. They said that no one really knows all that much about Aiden's disorder, but a lot of these kids have an overlap of "things" that kids with a deletion have. They're checking all his development since he's delayed & his behaviour since we know about that stuff. They're also testing his body systems (endocrine, vascular, etc) to make sure he doesn't have anything we missed. We also have to see a dermatologist & an allergist while we're there b/c they have concerns that something may have been overlooked by our current specialists. Last time we were there, they tested him & both me & my husband, but we don't have the results yet. If one of us is a carrier or is affected (b/c a lot of people may have it & not know b/c they have no obvious signs) they may test our younger son as well. They took pictures of us & him for the file & we signed papers to allow them to use our case to learn more about the disorder. I'll update again after we go for the testing. I also registered with CDO & Unique. I got list of other people who have kids that have what Aiden does, but I haven't gotten to contact anyone yet.

Aiden is really hyperactive, used to be in the upper percentile for height & average for weight, but he fell off the charts & is now on the bottom. He has low muscle tone, fluid constantly in his ears, is speech & fine motor delayed now & was gross motor delayed previously. He has these weird autistic-looking motions but when he was tested there was no way he could be autistic. His intelligence is fine, but his listening skills lack. Sometimes I wonder if he has a hard time understanding & processing what we say. It's frustrating, but we try to be patient with him. He has food allergies & eczema as well. The people at the hospital think he may have a problem with his immune system even though he's almost never sick. Once he sees all their specialists there, I'll be able to tell you more, but for now, we don't know if there's anything else going on.

Whitney - posted on 02/12/2010

Hello There---I'm so happy to be able to meet other people who are in my shoes!!! I have a daughter, Lilly, who is 16 months old and at 3 months old was diagnosed with Cerebral Paulsy a few months later after doing a bunch they found out that Lilly had a very rare chromosome disorder called chromosome 21 deletion syndrome. They also told us that there was about 150 cases world wide known. Lilly has also been behind in meeting her milestones, like i said she is 16 months old and started crawling last month...i know what your going threw. Its tuff and scary and sad at times seeing children that are your childs age or younger and they are WAY more advanced! Lilly is a very happy and spunky little girl!!!

Michelle - posted on 01/07/2010

My 3 y/o son was recently diagnosed with 22q11 microduplication syndrome. We have an appointment with CHOP at the end of Jan to sit down with the genetics department. I guess we'll find out more then.

Tonya - posted on 07/06/2009

My 3 1/2 y/o daughter Teralynn was born with 22q11.2 Deletion Syndrome. And yes it goes by many different names. Teralynn was born with 2 VSD's, interrupted aortic arch, submucus cleft palate, VPI, hip dysplasia & sacral dimple. She had open heart surgery @ 4 1/2 to sew up her small hole and patch the large hole. She was basically born with 3 chambers, her VSD was so large and all the hard work it had to do made it larger than it was supposed to be. She's had 2 surgeries on her palate to help with function and speech. Her biggest issues is her speech. She is in the 5th perciltile for height & weight. She's in size 18-24 months.

LeeAnn - posted on 06/24/2009

Hello! My oldest daughter has Chromosone 22 Q-11.2 deletion syndrome, or Velocardiofacial Syndrome. There are several names for this chromosome disease, such as DiGeorge Syndrome, "Catch 22" and others. My daughter is 2 1/2 years old, and we are new to this, since we just got the diagnosis in March 2009, after genetic testing due to a diagnosis of Autism, with an obvious "cause". My daughter has been spared the severe complications to this disease, and only has her Autism, and delays. I am interested in learning more from parents who are in the same situation as I am. Thank you for the information, and I look forward to giving and recieving advice from all of you! God Bless you and your families!

Velvet - posted on 05/20/2009

Quoting Kim:

A website that might be helpful to some of you is Chromosome Outreach Disorder (http://www.chromodisorder.org/CDO/)

Our little girl, Samantha, tetrasomy 18p, is featured in the first CDO video (2-/12 minutes in.)

: )

Velvet - posted on 05/20/2009

Samantha was born with a chromosome duplication called Tetrasomy 18p Syndrome.



"Samantha's Syndrome"

http://www.tetrasomy18p.ca/

Christine - posted on 02/19/2009

Hello there, my daughter, Caelan, has chromosome 6q deletion syndrome and have only found one other family with a child with this specific disorder. Caelan is 4 years old and has global developmental delay and epilepsy as well as some other health issues. She doesn't walk or talk yet but she continues to impress me everyday with her strength and her happiness.

Rebecca - posted on 02/17/2009

My daughter, Nevaeh Faith is 5 months old. She was just recently diagnosed with a deletion on Chromosome 13q 31.3....I actually have to return to Cincinnati Childrens Hospital to have our blood drawn to get more info.  I haven't had much luck with finding much info on this particular deletion. Some web sites have been helpful in a way but I guess this deletion is so rare this isn't much info on it. It has been a long and trying time with all her other medical problems. She is delayed developmentally and has a lot of specialist and therapy....its nice to know I am not alone! She is such a blessing and such a fighter!

Kim - posted on 02/12/2009

A website that might be helpful to some of you is Chromosome Outreach Disorder (http://www.chromodisorder.org/CDO/)

Erin - posted on 02/05/2009

I'm 20 weeks pregnant with a child that has Trisomy 18.  At this point we don't know much about what "things" might be wrong with her.  Only time will tell.

Lisa - posted on 01/31/2009

Hi my name is Lisa, i have 2 children Kenneth 6 and Isabella 4. i found out when i was pregnant of my son that he has Klienfelters Syndrom also known as xxy or KS. I go onto there website and i read all the stories of men who have this and parents of children that have this and its scarey. So i would like to talk to anyone that knows about this. or just anyone who would like to talk. i wish you all the best of luck. Lisa