anyone out there know anything about rare chromosome 18 disorders

Jennifer - posted on 10/09/2009 ( 31 moms have responded )

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my oldest son nathaniel age 7 has just been diagnosed with an extreemly rare chromosome 18 disorder so rare that even his genetics dr dosn't know what it is he dosn't seem to fit any particular category ie deletion trisomy or duplication perfectly sees to have a bit of all of them i am looking for good reliable resources books or web sites i can get more info on it. i hope i am not speaking a forign language here but i will do my best to describe his inital test results he has 1 normal chromo the other has a normal long arm a normal centramere and a short arm with the distal tip deleted also he has a partial copy or the defective chromo with a copy of the defected short arm and annother normal centramere but no extra long arm the two deleted ends of the short arms so all in all out of the known disorders out there he dosn't fit into any one mold he dosn't even know if there is annother person out there with a simalar problem also i can tell you his symptoms he is severly hearing impaired he has about 20% hearing left constipation problems facial tics developemental delays accross th eboard speech problems skin problems ecthama( i can't spell it) :) flat feet wide flat nasal bridge thin upper lip also had hard time nursing as a baby due to a high arched palate this is a short list of his many issues i know this is a long shot but it is worth a try even if anyone has any experience on where to find out anything about chromosome 18 in general it would be helpful i have googled it and am now familar with teh most common disorders associated with it but not anything like this his dr said he may very well be the only case known to science at this time but then again there may be someone out there he dosn't know about yet also i am debating on getting ssi or disability benefits for him i think thery whould be helpful but my dear MIL thinks i would be labeling him for life as disabled and he'd never be able to live it down i am also interested in knowing who to seek out to find out if i can get a deaf child sighn by our house since we live on a highway and people do 90 past our house and if the hearing aids aren't working he can't hear cars any ideas i am lost at this point thanks

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Rachelle - posted on 07/25/2013

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Hsinching Liu,
I can't imagine how hard it must be to worry like that after 2 pregnancies gone wrong. I can't give you much advice on that but try and keep your hopes high. There is always hope. No test is 100% for chromosome disorders. I am going through that right now. I tested at high risk for tri 18. A child with thi s disorder's life expectancy is short if they even make it out of the womb. We have chosen to leave it in gods hands and are hoping and praying for the best. The fact that there are no known chromosome disorders in your family is always a good sign. I don't know if you are religious or not but i have found that praying helps me soo much. Best of luck to you!

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HSINCHING - posted on 04/12/2013

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Hello to all the brave moms:

I am a new user and trying to find out more info. on the 18q- since both of my pregnancies had the same problem. Due to the research finding and medical advices, my husband and I decided to terminate both pregnancies with endless sorrow and tears. That being said, I can't image how challenge your life have become after your special babies were born and for that, I applause all of you.
It's been 2 yrs since my last failed pregnancy and I'd like to try it again yet I am afraid going through the same process. Is there anyone who can give me some advice? I noticed the last comment was posted in 2009, and am hoping this thread will be active again.

A little background of myself
- both husband and I are healthy in our mid 30s.
- no family history of known chromosome disorders.
- FISH was done on both my husband and I; turned out we have NO chromosome abnormality but were suggested one of us may be mosaic.

The last diagnosis put us under a dark cloud. It seems like our only approach now is going through IVF with PGD by the FISH method to test for the deletion found in my pregnancies (my previous ones were conceived naturally). The institute who performed our FISH even told us upfront it's difficult to say how accurate this will be. My major concern is not only the financial part, but my deepest wound is the psychological scar. I know this will probably never be cured but expect to live with it peacefully.

prospective mom with hope,

Hsinching

Laura - posted on 11/09/2012

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PLEASE PLEASE PLEASE contact the Chromosome 18 Registry and Research Society. They are based out of San Antonio Texas but their membership is global. They have so much information to offer and they are the leading researchers in Chromosome 18 Abnormalities. They offer an enormous amount of support and information. They are doing cutting edge research there and the community of affected families is just amazing. Here is the link to the website: http://www.chromosome18.org/



They also have an amazing facebook group. I have become such close friends with the parents on that site. Whenever you have any questions or just need to vent or ask for support, you get responses within minutes from dozens of people. They also have a national conference every summer that we went to this past July that offers so much information and support on Chromosome 18 disorders of all kinds. Next year it's in Savannah and we are definitely going. I hope you contact them, I really do. It would be a mistake not to. They can really help you, I promise.

Suzanne - posted on 10/28/2012

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There is a group on Facebook chromosome 18 registry and research society...there are others with 18p duplications. Also, check out www.chromosome18.org. My son has tetrasomy 18p.

Dawn - posted on 10/26/2012

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I am concerned with the person who told you your child will not be able to"live it down" ...Its wrong to put a stigma and ignorance on being disabled! Clearly your child will appear disabled but you want to educate others that despite challenges your child is no different than any other!..If you need the money or medical coverage disability would be a great move! being disabled is not a label but a fact! Having a challenge to break through or work around is how you should look at it:) Use this to find your childs abilities and focus on building them! try a trip to see a special olympics meet....you will realize real quick that these wonderful people strive for their best selves and live up! and they have nothing to "live down" My 17 year old has cerebral Palsy and I fear I did not challenge him enough..I know he is capable of so much more! Choose what best benefits your child! there is a huge community of us supporters out here and we know the key is to stay positive don't dwell in the negative or get advice from ignorant people! Heres a hug:) and take at least 5 min for yourself today ..have a cup of tea or such p.s you clearly love your child and want to be educated and that is awesome! I will see what I can find and post it if I do:) God Bless D

Kelley - posted on 01/04/2010

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Jennifer my wee boy had to get vents inserted in his ears due to glue ear and pressure build up. He has had them inserted twice already and he is only 4 but they seem to have done the trick. No more ear infections! As far as neurological issues, he has subpendymal heterotopia grey matter nodules on his brain. These can cause dev delay also and the main side effect of these is seizures. Thankfully he has not had any seizures but unfortunetely they can start at any time. Then again he may be lucky and never seizure. I think your childs chromosome abnormality is much more complex than my sons but it seems that the same keratone, is involved which means they may have some similarities.

Jennifer - posted on 12/30/2009

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thaks i will def check them out just as soon as i get a free min of time since starting my new job i seem to have very little time def diffrent than being the stay at home mom for sure i really miss it does your son have any hearing problems or neurological issues mine does but they don' know if it has anything to do with this disorder or not so far as i can tell they are calling his problem partial trisomy partial monosomy and an inverted duplication they have found out he has 15 deleted genes and 28 duplicated genes one of the missing genes is TGIF1 which is responsible for the brain developing into 2 seperate halves he has only 2 sympotoms of this condition wide flat nasal bridge and hypertolerism of his eyes they need to do a brain MRI to know for sure if he has this or not and they are going to send him for a full psycho neuro eval at some point and i should have the results on my other 2 children any day now

Kelley - posted on 12/21/2009

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Hi J ennifer. My son has a rare chromosome 18 abnormality. It is called 18psubtelomericduplication. basically he has a extra peice of chromosome at 18p11.32. There is a group dedicated to chromosome 18. It is called Chromosome 18 Registery and Research Society. You should join as they are so helpful in finding other people with similar abnormalities and also filling you in with what they can about the abnormaility. My son is nearly 5. He has dev delays, mod learning difficulties but is doing great at a supported learning center in a mainstream school. His speech is getting better every day and so is his behavior. His fine motor skills are also improving. Early help is vital. Paul has been getting ot, st, and pt since he was a baby and he is thriving. Good luck with your research. Please go to this site because they are great there. Let me know how you get on. kelley

Jennifer - posted on 11/06/2009

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i tried to join the other night and my computer froze so i am gonna try to join again tonight i think i will do it now the dr told me to wait till the next set of test results were in but i don't see why i should i know now what they need to know to figure out whats goin on with him i can always add info to the case as i get it right?

Kelli - posted on 11/03/2009

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Join the Unique rare chromosome support group on facebook, from there you can go to their website and anything they have on this condition will be available for you to read/print off. It's been invaluable to me. DD has a 5q deletion, age 4. At birth there were 21 reported cases in the US and none of them were very similar to her. The unique database did a study on 17 cases ( i think they were all from the UK) and did a compare and contrast so i could see what symptoms were most prevalent and such.

Jennifer - posted on 10/28/2009

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ok here goes the letter says(i'll shorten it where i can without leaving out details) one copy of chrom 18 is dicentric ( having 2 centromeres resulting in trisomy of the p- arm of chrom 18 and monosomy (1copy) of the telometric region the tip of chrom 18p-arm (46,xy,dic dup(18)(p10->p11.32::p11.32->qter) i think this must be his karotype not sure but it looks like it to me therefore further testing was done to determine what these changes were FISH fluorescence in situhybridization) probes behind the DNA in the subtelomere region (tips) of the chromosomes. This testing showed that there were 2 copies of the long arm (q arm) (the dr told me it was the short arm so i'm not sure if the letter or the dr is accurate) but only one copy of the short armParm) in addition FISH probes for the centromere region of chromosome 18 showed that one copy of chromosome 18 had 2 centromeres (normally a chromosome only has one centromere) the net results of all these changes are intrisomy of the p-arm of chromosme 18 (including the centromeric region and monosomy of the telomeric region of chromosme 18 P-arm the implications for him are unclear likely to have at least caused his minor facial dysmorphism and a posssible cause of his hearing loss however there are not any published reports of patients with the same abnormmality even though he does have trisomy for part of the p- arm he does not have trisomy 18 they have done chromosmal microray testing whci is the test results we are still waiing for they also said he has a 50-50 chance of passing this abnormality to any future offspring and genetic counsling with any future partner is strongly advised so anyway i hope this helps i am trying my best to describe his problem the best i can i will post again when i hear the microray test results thanks

Jennifer - posted on 10/28/2009

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ok i have finally gotten the letter from our first round of tests i am still waiting on the second set of boold tests it was a bit confusing to read the letter they sent i am gonna post it here maybe you guys can understand what they are saying better than when i tried to describe it i do understand it its just more info than i could give you last time

Jennifer - posted on 10/27/2009

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thank i hadn't thought that they could have the intestines twisted i did think about it being blocked up but that is a good possibility ty the mri's they have had done are only of their head nothing else so it is possible that they missed something entirely i still have to find out what his karotype is but should be hearing back fromm the genetic dr anytime now hopefully they will have some more answeres for us and be able to tell us if either myself or my hubby have it too oand if the other 2 need to be tested
though i think i will insist on it either way
we are taking our 5 yr old daughter tomorrow to the gastroentorlogist to figure out her bowel problems she has had the runs for 3 months now no explination for it so far and now my oldest son has been having loose stools too very odd for him! i'll keep ya all posted and i am very happy to have met so many other moms of kids with simalar problems it is very nice to know i am not totally alone thanks guys!

Stacie - posted on 10/26/2009

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hi there...my 7 mo daughter has 18q deletion syndrome. i was reading in your posts about your kids having problems with constipation, etc. Kaliana was having the same problem, and they found that she has something called Malrotation of her intestines. It was causing her bowels to kink/twist when she would strain/cry. She had a surgery called a Ladds procedure, and after some recovery...her constipation problem has been totally resolved. As far as finding out more about the chromosome 18 abnormalities...i have found alot of support through Chromosome 18 Registry & Research Society (chromosome18.org) and The Chromosome 18 Clinical Research Center through UT Health Science Center.

Kayla - posted on 10/25/2009

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Oh my goodness...I read this and it kind of hit home...my son has a "rare" 16th chromosome depletion. They can't tell us what it means for his future, but they picked on his thin upper lip and wide nasal bridge. He had trouble feeding (reflux) and ended up with a G-tube which we have since removed, but it's supposed to be one of the signs of that depletion. He also has a heart defect which is why they ran the genetics test, but they can't blame that on his depletion because my husband has the same depletion. I kinda just want an answer as to if it's going to affect him and how or if it's just something that runs in my husbands family undiagnosed normally. Oliver's overall "healthy" besides his HLHS, and still he's not the normal heart baby! Best of luck with your son!

Donna - posted on 10/24/2009

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oh expect to be tired alot when i went back to work i never new how tired i would be lol but i still go and i still spend as much time possible with my son(cp,epilepsy and hydrocephilus) as for ur mil she doesnt no what its like to raise children with special needs (i wont say child since i dont no if she has any that r special i will asoom not though cause if she did she sure wouldnt be this judgemental) there r people in my family that look at my son and say "oh how pitiful" and i have pretty much stopped talking to them. i can say for sure that god only gives us what we can handle and u have ur three boys for a reason we may not no why and we may never no why but he does so just keep that in mind

Jennifer - posted on 10/16/2009

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i just have to update you all i just had the best day ever yesterday i got a part time job as a photographer paying 8/hr at the walmart picture studio then today got offered a job at olan mills asa receptionist then not even 1 hr later i was offered a job as head lifegaurd at a brand new waterpark only 20 min away at our local ski resort making $12/hr FT and full benefits including medical and for now at least i can keep the photography job till i can start the lifeguard job this solves some of our financial problems bu tthe hubby isn't happy he wants to be the one to support the family he is adiment that i need to be home with the kids since they rely on me for som much and he dosn;'t know how to do what i have ben doing for the last 7 yrs i thik he is a bit intimidated by all the dr appointments and hwo to deal with thereepy and such its just not something he ever thought he'd need to be in charge of and frankly i am a bit worried i have a hard time letting anyone do my job and be "mom" i guess i will just have to trust him and try not to leave the mile long laundry list for him :) i will miss my kiddos but gotta do what i gotta do to ensure we can supprot them but at the same time i am very excited about the new job i have never in my life had such a great job or pay for that matter any suggestions on how to work full time and still make the most of my time with the kiddos without getting stressedout and over tierd ?

Jennifer - posted on 10/14/2009

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ty i will check on those shows hadn't thought about looking for them online i will definately have to do that i am so glad i was blessed with y kids even on those days they act like normal kids and are fighting all day i still cherish even those moments God is good as i said i feel like we were blessed to have been given these children it wasn't ment to be a bad thing but rather a good thing and one heck of a learning experience and i will always see it that way even if somedays i have to force myself to think that way i will it isn't easy i admit it is easy to get down and so much harder to think positive but yoou have to or you just get stuck in the rut and won't accomplish anything so in order to give my kids the best i have to think positive so i can give them my best

Ann Marie - posted on 10/14/2009

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Oh, Jennifer! That's the spirit!

Special children are wonderful. And there are those beautiful moments you will have with them all the time.

We have five special needs children, and I tell everyone who asks that infernal question: How do you do it?

God only puts on your plate what you can eat. He may just do before you know you are hungry.

Have you checked for the television program on the internet? Many educational shows and medical shows are on the parent channel's website. You can read about the shows and the scripts.

Good luck in your job hunt and on the road to benefits!
Ann Marie

Jennifer - posted on 10/13/2009

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thanks you guys for th help i know so far i havn't found anyone with his exact problem but it is nice to know that i am not alone out there with the chromosome problems it really is helpful to know that there are others that are going through a simalar problem i have been to the unique site but since i don't yet know his karotype i am not having much luck looking it up i am hoping that after this set of tests i will know the karotype and be able to find more answeres withthat info i wish i had seemn that tlc show unfortunately i don't get it on my dish i do get to watch it every now and then when i am at my aunts house but hubby hates that channel the MIL i know means well but just can't accept the fact that there could possibly be anything wrong with her grandkids esp her fav i do hate it that she palys favorites she dosn't see it but everyone else does my boy was her very first grandchild and she is very close to him i think she just refuses to even admit that he isn't the same as every "normal child out there i know it is hard for her but sometimes she can just make me feel so inadequate as a mom that i begin to doubt myself i will continue to see k disability for him goodness knows it can only help at this point my husband and i now have both just been laid off to top everything off and have so far not found any work we have apps out for just about anything we could remotely do in a 1 1/2 fr radius but still nothing so now we need the help even worse i want to give him every chance i can at a good life even if it means i go to therepy 3 hrs away every week i'd do it sometimes i wonder y i was chosen to have 3 kids with disabilities but then i remember that the man upstairs must know i am capeable of careikng for them and feel so lucky i am trusted enough with these little angels that he would give me 3 to nurture and care fo and to be totally truthful i think overall they are so much nicer to live with they are so much more immaginative and careing than most kids their age my oldest strives to please you in everything he does and is always making sure you are happy with his attempts he loves everybody right down to the bum on the street sure he has spats with his sister and does things he gets in trouble for he is after all a child :) but it is so easy to forgive him when he runs up to you and gives you one of those great big bear hugs and says i love you ommy sorry didn't mean to ramble but i was feeling a bit down today and this tought just popped into my head and i just had to share it with you it sure made me feel much better about everything i hope it does the same for all the rest of you thanks

Kari - posted on 10/13/2009

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Quoting teri:

HI, I JUST FOUND OUT TODAY THAT MY DAUGHTER(ADOPTED) has mosaic ring chromosome as the genetic counselor put it as duplication 18p11. they also didnt have any info for me. my next step is to get her bilological parents to go for testing.im still trying to get info, but here is a site you can go to. CDO OUTREACH OR UNIQUE. THE THINGS ON THEIR SITE WILL HELP YOU AND YOU CAN SEE IF THERE IS ANYONE ELSE OUT THERE WITH THE SAME CHROMOSOME DISORDER.


My daughter has mosaic 18 also thats cool cause its really really rare....how old is your kid? maybe you have some knowledge I dont mine is almost two.

Teri - posted on 10/13/2009

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HI, I JUST FOUND OUT TODAY THAT MY DAUGHTER(ADOPTED) has mosaic ring chromosome as the genetic counselor put it as duplication 18p11. they also didnt have any info for me. my next step is to get her bilological parents to go for testing.im still trying to get info, but here is a site you can go to. CDO OUTREACH OR UNIQUE. THE THINGS ON THEIR SITE WILL HELP YOU AND YOU CAN SEE IF THERE IS ANYONE ELSE OUT THERE WITH THE SAME CHROMOSOME DISORDER.

Kari - posted on 10/13/2009

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There was a special on TLC the other night on a little girl with something similiar to your son's I remember hearing 18 chromosome deletion they said she was a diagnosis X so maybe thats helpful look that up.. good luck and God bless. Tell your MIL to read up on disabled people because ignorance is contagious.

Ann Marie - posted on 10/13/2009

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Jennifer,

Sit down with MIL and hug her. Tell her you love her and appreciate her opinion, but where your baby is concerned, you really need her to keep it to herself.

Get your child on SSI and Disability. The extra funds will help with therapy travel costs and the disability will qualify him for a special Medicaid which specifically pays for disabilities (it has a different name in every state). There is absolutely NO STIGMA in being disabled.

I don't know which genetics agency you are using, but Greenwood Genetics is doing long term research on all genomes. You would only need to sign a release to have the results sent to them. They could put you in touch with pros in the 18 field.

Ann Marie

Jennifer - posted on 10/12/2009

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he has one normal chromosome and the other has a normal long arm normal centramere then the short arm is almost normal except that the tip has been deleted not shure how many genes are involved then he has annother short arm also withthe same deletion and annother normal centramere the two deleted ends are linked together so it kinda looks to me like he has an unbalance translocation as well as deletion and duplication the dr said he does have a partial trisomy but that is isn't trisomy 18 but as i said to me and i am by no means a dr it looks like the 3rd extra copy has translocated onto the deformed end of the second chromosome making it longer than the other one i guess the dr said there are so many variations in the ways the chromosomes can deform that it is almost impossible to know every one of the possibilites or how they will affect your child i am still waiting to find out which genes have been involved how did you find out at such a young age that he has the deformity i could only wish that my son's had been found so early on i had to fight with my drs for 6 yrs to get him diagnosed as hearing impaired and annother year after that just to see the genetics dr i can't immagine what i would have missed if i had listened to them instead of my gut instinct do you have a name for your disorder other than the mosaic syndrome i have been able to find some stuff out about mosaic syndrome by googleing it i do know that with mosaic they only have the deformity on some of the cells and not all of them but i stopped looking after that since my nate dosn't fit that description if i ome across any info on that i will post it for you here good luck and keep in touch

Kristen - posted on 10/12/2009

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does he have an extra piece of chrom 18 in addition to a normal 18 or does he have just on 18th chrom that is deformed? My son has a rare 18th chrom disorder but his is a partial mosaic form. he has an extra piece of the centramere and long arm on about 60% of his cells. He is only 6 weeks old so we do not know the full extent of what that has done but we see an 18th chrom specialist at Hershey med center in PA named DR. Lada and he is amazing and knowledgeable.

Jennifer - posted on 10/11/2009

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that's fine i will keep you updated are they gonna do the testing soon i hope ! good luck with your tests our dr didn't tell us what the chance would possibly be told us we would discus that at our next visit but what you are saying makes perfect sense i guess we just have to wait to find out how long ago was your daughter diagnosed? the web sites he told me to check were chromodisorders.org and rarechromo.org i got better results just by googleing the specific problem but maybe if you try them you can find some info

Rebecca - posted on 10/11/2009

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Yeah i have issues with my own mother. Worried about me having more children. I don't know how to ease her mind at all, because this is my family and if I choose to have more babies then I will. So I think they may fight us, but as soon as that baby is born they will love them just the same. The geneics Doc says he is gonna take mine and my husbands blood, but it hasnt' happened yet. Also the genetics doc told me there is like one and a million chance that the same exact chromosome deletion would happen to the next baby. Now if you or your hubby is carrying the gene then that's another story. Maybe if your carrying it, all your children may have some type of the disorder. Anyway, good luck with your blood test and let me know how it turns out. I'm gonna add you to my circle if that's ok.

Jennifer - posted on 10/11/2009

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thanks ! they are sending my hubbys blood mine and our son's to washington state to hopefully tag eachone of the genes to see which ones are missing and which ones are duplicated hopefully that will give us some more reliable ideas of what of his symptoms are caused by this and which ones aren't if any also hopefully it will give us a better idea of what to expect in the future i too had him involved with early interventions at the age of 16mos even though the dr told me it wasn't necessary that he will catch up on his wn luckily i didn't listen to them cause even though he did extreemly well with the therepy he still fell further behind i don't see why i shouldn't apply for ssi for him but my dear MIL feels i would be doing harm to him by labeling him also she thinks my husband and i should get fixed so we can't have any more deformed children this hurt me a lot cause all 3 of my wonderful babies have something"wrong"with them though i am not necessarily trying to have more children due to lack o space and funds i feel strongly about birth controland there is a great reason we were given these special children to love if i was blessed with annother baby i would definately be a bit scared but it wouldn't change how i feel about them or how much i cherish them do you have any advice on how to kindly tell the MIL to mind her own business without upseting her i do like the woman most of the time ? did they tell you if they can do tehse tests with your child or when ? i know they did our blood work about 3 days ago and it will take at least a month to get the results back so this has got to be the hardest wiat i have ever had and to boot i am convinced the other 2 have the same thing they are all so simaler in apperance and developement even though the severity is different with each one and some fo their symptoms are different like my oldest son has severe constipation and my daughter hs sever diahreah and the baby so far seems "normal with the bowls bt so did they when they were that age it is so hard to tell when they were born the boys both had facial characteristics of downs and the baby also has a1 line across his palm instead of the normal 2 so it is hard to tell they won't test them unless it comes bacjk that one of us parents also carries the defect we have been trying for 7 years to get a dr to listen to us and send us to a genetic specialist so after year s of frustration i feel we are finally on the right road i will definately keep in touch and if i find somethng i will let you know too thanks a bunch!

Rebecca - posted on 10/10/2009

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wow that is amazing. My daughter actual has deletion of chromosome 13. It took like forever to get a diagnosis. she was very small at birth and just seemed to not be growing. When the geneic specialist told me what she had, I myself tried to find some research. But I had no luck really finding anything online. I did get a bunch of literature from my genetic doc. They haven't broke down her chromosome yet small enough to see exactly which secions are missing, but some are missing in number 13. My daugher also has devolpmental delays, eczyma, and doesn't talk yet and she is almost 2. She does hear well. SHe is extremely small for her age and also has siezures. she too has flat wide feet and thin upper lip. My daughter has qualified for SSI and we get 200 a month for her. she is in early intervention so she has physical and speech therapy. which has helped ALOT! Also another side effect of the disorder is retinal blastomas, tumors in the eye. so every 3 months she has to have her eyes checked out. When they did that they noticed she is very farsighted and now she wears glasses. Anyway, I would love to chat with you and keep in touch. If I come accross anything in my research I will let you know.

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