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Rare Chromosome Disorders/Syndromes?

post #1 of 83
Thread Starter 
How many of us here have children with rare chromosome disorders? My DD, 6 weeks old, was recently diagnosed with a deletion on one of her chromosomes. It seems so hard to find information and support when so few people in the world share the same diagnosis. Sometimes I wish she had Down syndrome so I could at least join the support groups and meet other people in the same boat. The syndrome my DD has appears to have many of the same difficulties and potentials as Down syndrome but we can't be entirely sure as there are only 140 cases known in the world. It is such a hard adjustment to make and reality to come to terms with. Are there any other parents dealing with something similar?
post #2 of 83
Ds,8yo, has a microdeletion in his 2nd chromosome.His geneticist feels it caused his heart defects as well as his autism.But since she knows of only one other child in the US with the same deletion,she can't be sure.She doesn't know much about that child,only that he or she has the same deletion.We're not sure how many worldwide have this either.Thankfully ds is happy and healthy right now,so I try to take it day by day and not worry too much(easier said than done of course).
post #3 of 83
DS who is 5 now, has a deletion on chromosome 15. He was diagnosed with Angelman's Syndrome when he was 10 months old. His condition happens in 1 in 30000. When Mason was diagnosed I had a lot of thoughts, most of them about how I thought I was getting one child, but really the plan changed very quickly and I had to grieve it. My husband had a very hard time coming to grips with it and there was a lot of work that we needed to do to get past it. The next realization rocked my world, though. This child was chosen for us, and we were chosen for him. We were put in charge of protecting him, making sure he was well, and making sure he was loved. What more can you ask for?? We are Mason's voice and I think that there is something very empowering in that. Sure, some days are not so good, but it always comes around. Know that most mothers and families of children with disabilities are one huge group and are willing to offer support.
post #4 of 83
((hugs)) for you. It's hard to get a diagnosis when your DD is so young. Congratulations on her birth!

My DD (5 years old) has a partial deletion on chromosome 9 (Alfi's syndrome). Also very rare. Have you found the chromosome disorder outreach group? If you send them the karyotype, they will look in the database for any "matches" and get you in touch with other families. They also run a Yahoo e-mail group. www.chromodisorder.org

One thing some of the experienced Moms on that mailing list emphasize is that you have a "diagnosis" but not a "prognosis." Your child will write her own book.

For example, according to the one published paper on my daughter's syndrome, she would be expected to have an "intellectual disability" (aka mental retardation), but we see no signs of that. Our DD has issues with fine and gross motor skills but all of her teachers and therapists agree that she's very bright.

Good luck to you!

Davidah


Quote:
Originally Posted by angelika13 View Post
How many of us here have children with rare chromosome disorders? My DD, 6 weeks old, was recently diagnosed with a deletion on one of her chromosomes. It seems so hard to find information and support when so few people in the world share the same diagnosis. Sometimes I wish she had Down syndrome so I could at least join the support groups and meet other people in the same boat. The syndrome my DD has appears to have many of the same difficulties and potentials as Down syndrome but we can't be entirely sure as there are only 140 cases known in the world. It is such a hard adjustment to make and reality to come to terms with. Are there any other parents dealing with something similar?
post #5 of 83
Thread Starter 
Quote:
Originally Posted by davidah View Post
((hugs)) for you. It's hard to get a diagnosis when your DD is so young. Congratulations on her birth!

My DD (5 years old) has a partial deletion on chromosome 9 (Alfi's syndrome). Also very rare. Have you found the chromosome disorder outreach group? If you send them the karyotype, they will look in the database for any "matches" and get you in touch with other families. They also run a Yahoo e-mail group. www.chromodisorder.org

One thing some of the experienced Moms on that mailing list emphasize is that you have a "diagnosis" but not a "prognosis." Your child will write her own book.

For example, according to the one published paper on my daughter's syndrome, she would be expected to have an "intellectual disability" (aka mental retardation), but we see no signs of that. Our DD has issues with fine and gross motor skills but all of her teachers and therapists agree that she's very bright.

Good luck to you!

Davidah

My daughter has the same deletion/ syndrome. You have no idea how incredible it is to hear you say that your daughter has no "intellectual disability". Even if she is the only one, just to know that there is that potential is the best thing I have heard in weeks. I have found all the internet groups and resources, but they make me feel worse at this point, not better. Too much information, too many variables. I really wish we had had time to get to know our DD first before having all the information. However, she was a NICU baby and they did every test imaginable on her so here we sit with the diagnosis almost as soon as we met her. Pretty incredible that for as rare as their syndrome is, here we sit two on MDC.
post #6 of 83
Quote:
Originally Posted by angelika13 View Post
My daughter has the same deletion/ syndrome. You have no idea how incredible it is to hear you say that your daughter has no "intellectual disability". Even if she is the only one, just to know that there is that potential is the best thing I have heard in weeks. I have found all the internet groups and resources, but they make me feel worse at this point, not better. Too much information, too many variables. I really wish we had had time to get to know our DD first before having all the information. However, she was a NICU baby and they did every test imaginable on her so here we sit with the diagnosis almost as soon as we met her. Pretty incredible that for as rare as their syndrome is, here we sit two on MDC.
I agree that it's hard to get the diagnosis before "meeting" your DD. We didn't have DD tested until she was 3 years old and we were looking for some answers for her motor delays (and a new Dr. noticed her subtle "facial dysmorphic" features for the same time. The weird thing for me was that I refused all genetic testing during my pg -- refused the triple/quad screen blood test, refused to have an US that looked for soft markers. I said over and over "I want to know my child before having a diagnosis." So it's like I had a premonition of this. (We also have an older DD with a normal karyotype and no issues).

Feel free to PM me if you want more specifics. Our younger DD with Alfi's syndrome is definitely more challenging to raise than her older sib, but she's also a complete delight and everyone loves her. The other day she said "My bladder and my diaper (which she only uses at nighttime) both hold my pee. How are they different?" She also said "Your gums (in your mouth) are like caulk for your teeth." (referring to caulk around the bathtub. Not typical 5-year old things to say! She is incredibly verbal and makes these amazing analogies. (OTOH, her drawing skills are still at a 3-year old level. But that's hardly a major issue).

Good luck to you! Put away the Internet and just enjoy your DD!

Davidah
post #7 of 83
I dont have any kids with chromosome disorders, but I did want to pipe in and agree-the variation in the level of problems with any given diagnosis can vary sooooo much.

This isnt the same but as an example-I had a friend in high school with downs and you'd never guess, except for his appearance and his voice being a bit off. He had a normal intelligence and was pretty cool. I felt kind of bad for him, since everyone assumed he was slow or retarded-but he was planning on having cosmetic surgery to make himself look more normal in the future. I mean, it was understandable-he DID have downs and most kids with downs do have some level of slowness (is that a word? lol), but in his case, it was very hard to deal with.

Anyway, even if your daughter has some issues to whatever degree, she's still her own person and I'm sure you'll love her no matter what! I hope you find more support and that your daughter grows up healthy and happy
post #8 of 83
post #9 of 83
My son has a chromosome disorder, but it isn't nearly as rare. He has a micro deletion on chromosome 22, called DiGeorge Syndrome or Velocardiofacian Syndrome. It is the second most common chromosomal syndrome, second only to Down Syndrome.

What has been extremely frustrating to me is that it's supposedly so "common" (birth rate estimated at 1:2000-1:4000) yet so few of his drs have heard of it, or they've heard of it but aren't very well read in it. Many of his drs still plot him on "normal" growth curves, or want to treat his symptoms like they'd treat a "normal" child with the same symptoms (i.e. his speech issues *look* like apraxia or an oral motor dysfunction, so he's being treated for that in therapy, yet the research out there on his syndrome says that it's probably neither and may be a different issue all together; or that even if it is one of those, the therapy for it is different than what you would give a "normal" child with the same issue)

It's all so very complicated!!!

And, Connor doesn't quite fit into the box of his syndrome perfectly either, for example most kids get the diagnosis because of a specific cardiac defect--he doesn't have it. Some kids get the diagnosis because of a certain kind of seizure--to my knowledge he's never had a seizure.

So while I've SEEN the picture of his chromosomes, and I KNOW he has the syndrome, he is, as davidah said, writing his own book. And I sure wish I could read that book to the end NOW, but alas, I can't.
post #10 of 83
Thread Starter 
Quote:
Originally Posted by MotherWhimsey View Post
Thanks, I have actually been there. It is a great resource.
post #11 of 83
Thanks for starting this thread! My daughter apparently has some genetic disorder, but we don't know what it is yet. All the specialists that have seen her so far have been mystified. They keep telling us she's "unique" - yeah, thanks, ALL babies are unique!

So we're in the midst of more extensive genetic testing and evaluations. It feels like a very slow process, and I hate putting her through all the tests. We have been told that it may be years before we get a diagnosis, or we may never know. I hope we learn something soon, it's hard to be patient. And if we knew what was going on, at least maybe we could find some support. It's hard being so unique!
post #12 of 83
My son has an inversion, deletion and duplication on his 8p chromosome. It's been an interesting ride because his mutation is so rare that there are only 18ish recorded cases and there are no "standard" issues related to his condition. He's only 3 months old so we're still new to it all. Have you checked out www.rarechromo.org? There is some good information there as well.
post #13 of 83
I was actually just coming on here to post about this myself. My son was recently diagnosed with 22q11.2 Distal Deletion. The symptoms are similar to diGeorge and VCF but it's a different part of chromosone 22 that's deleted. My son is only the 10th reported case. My son's geneticist gave me these two websites - rarechromo.org and chromodisorder.org I'd love to find some of the other 9 families who have kids with this same syndrom.
post #14 of 83
Quote:
Originally Posted by EarthyMamaofDaisy View Post
I was actually just coming on here to post about this myself. My son was recently diagnosed with 22q11.2 Distal Deletion. The symptoms are similar to diGeorge and VCF but it's a different part of chromosone 22 that's deleted. My son is only the 10th reported case. My son's geneticist gave me these two websites - rarechromo.org and chromodisorder.org I'd love to find some of the other 9 families who have kids with this same syndrom.
I'm on a 22q yahoo group (which I actually don't like, they're WAY too medicalized on there, and no where near "crunchy", but I lurk the posts to see if there's any new research). Anyway, I *think* that's where I first heard of a distal deletion. You might look up the various 22q/DiGeorge/VCFS yahoo groups and post there.
post #15 of 83
Thread Starter 
Quote:
Originally Posted by davidah View Post

Feel free to PM me if you want more specifics.
Davidah
Sent you a PM, thanks!
post #16 of 83
My 5 yo (officical dx of PDD-NOS) has 2 microduplications on his 2nd chromosome, and the geneticist says it isn't clear if either of them are the cause or contributing to his ASD. In terms of support, I've found that working with a really knowledgable geneticist at a large research hospital has been key - when we started on this journey, we were seeing local doctors who at first dismissed my concerns about DS's development, and then when he was diagnosed, basically dismissed him and his potential.
post #17 of 83
My daughter has a partial deletion of chromosome 5, known as cri-du-chat syndrome. She is almost six months old now and we found out not long after she turned two months. It is pretty rare. It is tough when some of the doctors that we see know less about the syndrome than we do and have never met or worked with anyone else with the same syndrome. There are some support groups for the syndrome and that definitely helps.
post #18 of 83
My son (5) has a microduplication on chromosome 17p.11.2. We're actually in the middle of contacting a variety of doctors/researchers because the duplication really has no name yet, although it's thought to be the cause of his delays/autism (after much discussion with doctors over a 2 year period). Although nobody is super sure, because the science has not caught up to say they are 100% positive. But I know in my heart that it's the reason for his delays.

On another note, he's a super kid and you'll never meet anyone like him! :
post #19 of 83
Quote:
Originally Posted by EarthyMamaofDaisy View Post
I was actually just coming on here to post about this myself. My son was recently diagnosed with 22q11.2 Distal Deletion. The symptoms are similar to diGeorge and VCF but it's a different part of chromosone 22 that's deleted. My son is only the 10th reported case. My son's geneticist gave me these two websites - rarechromo.org and chromodisorder.org I'd love to find some of the other 9 families who have kids with this same syndrom.
This is one of the syndroms that they are thinking they may test Megan for as if we chose to do more testing. She has a clinical diagnosis of VCFS, with a negative test for the typical 22deletion. Currently we are just going with the VCFS untill we see what happens as she gets older, she is doing well, speech is comming along pretty good after they fixed her cleft palate. Congnitavly she seems to be very bright so we may not have any/ or just minor delays there.
post #20 of 83
My daughter has a weird situation - the disorder she has been diagnosed with is very well known, it's cystic fibrosis - except that the genetic mutation she has on the CFTR gene is extremely rare (they have just one other case on record) and that patient presented in a very unusual way. So we are tracked into all this care and all these treatments for cystic fibrosis that assume we have the classic presentation of the disease, when in fact, her clinical test results are all either normal or almost normal -- nothing about her matches classic cystic fibrosis so far. Which is good, because classic cystic fibrosis is a pretty awful diagnosis. But we join you in the terror/uncertainty/hope/mystery of her prognosis -- no one can tell me if she'll get sick or not, or if so, how. We can only watch and wait.
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