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littleWMN

Does anyone have a child with a rare chromosome disorder?

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My dd was just diagnosed with a chromosome duplication that's extremely rare - only 4 documented cases of it so no research, no google, nada.

 

I just need to not feel so alone. :)

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My dd has 16p11.2 Deletion Syndrome. It's not rare, exactly, but it's fairly new, as far as these things go, and they just haven't diagnosed that many people with it, so there's just not a lot out there about it. Not much research, only one support group on the entire internet, and that only has about seven members. You can pm me if you want to talk. :grouphug:

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Thank you so much. I will pm you tonight. I'd love to hear more about your daughter. My dd has a cognitive disability and developmental delay. At least we have an answer as to why, but I wish there was some research. We go to the genetic counselor tomorrow.

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My youngest has a chromosome deletion syndrome that's on the rare list (1 in 25,000). He has significant developmental, cognitive and verbal delays as a result. Do you know about CDO (Chromosome Deletion Outreach)? The members all have children with rare/very rare chromosome issues. They have a website and a yahoo group. It was a wonderful resource for us as we were just finding things out. Even though the deletions are different the children share a lot of the same challenges. I'd be happy to share anything of our journey that might be helpful.

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My youngest has a chromosome deletion syndrome that's on the rare list (1 in 25,000). He has significant developmental, cognitive and verbal delays as a result. Do you know about CDO (Chromosome Deletion Outreach)? The members all have children with rare/very rare chromosome issues. They have a website and a yahoo group. It was a wonderful resource for us as we were just finding things out. Even though the deletions are different the children share a lot of the same challenges. I'd be happy to share anything of our journey that might be helpful.

 

Thank you so much!! No, I did not know about that resource. I will check it out. That's exactly what I've been looking for. My dd is 5. She has always been delayed (in everything) and we've been searching for answers for almost 5 years. She was adopted so that complicates things (from the research side of things). She is my only child I don't homeschool but we are leaning that way. I will go check it out. Thank you!!!

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My child doesn't have a chromosome disorder, but she does have a rare metabolic disorder, so I can at least relate to some of what you're going through.

 

((hugs)) Diagnosis is the first step of many!

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Thank you so much!! No, I did not know about that resource. I will check it out. That's exactly what I've been looking for. My dd is 5. She has always been delayed (in everything) and we've been searching for answers for almost 5 years. She was adopted so that complicates things (from the research side of things). She is my only child I don't homeschool but we are leaning that way. I will go check it out. Thank you!!!

 

You're welcome :) It can get a bit overwhelming at first can't it? :grouphug:

 

UNIQUE is another great resource. They are based in England but their membership is worldwide. It is much the same as CDO - Parents of children with rare chromome syndrome. Very helpful people - super nice too!

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My youngest has a chromosome deletion syndrome that's on the rare list (1 in 25,000). He has significant developmental, cognitive and verbal delays as a result. Do you know about CDO (Chromosome Deletion Outreach)? The members all have children with rare/very rare chromosome issues. They have a website and a yahoo group. It was a wonderful resource for us as we were just finding things out. Even though the deletions are different the children share a lot of the same challenges. I'd be happy to share anything of our journey that might be helpful.

 

Oh, she has a duplication, not a deletion, is this group for that too?

 

Thank you all. I feel less alone already. ;)

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Oh, she has a duplication, not a deletion, is this group for that too?

 

Thank you all. I feel less alone already. ;)

 

There are all kinds of chromosome issues represented - deletions, duplications, copies, multiples etc. You'll fit right in :001_smile:

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We have the only 2 known cases of the combo of POLG 1, LHON, and TK2 here. These are mito issues. We have a host of developmental delays, speech issues, some phsycial issues and mental health issues. Problems is that while the doctors know some about each one they have, they have never seen the combo so we ARE the test case.

 

Welcome to the club!

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We have the only 2 known cases of the combo of POLG 1, LHON, and TK2 here. These are mito issues. We have a host of developmental delays, speech issues, some phsycial issues and mental health issues. Problems is that while the doctors know some about each one they have, they have never seen the combo so we ARE the test case.

 

Welcome to the club!

 

Interesting! The counselor told me over the phone that there are only 4 other documented cases of what she has, but that hers is slightly different than those four so she's quite unique.

 

We went into the visit looking for FAS/D b/c I was convinced that is what was going on. They said they can't rule it out but can't diagnose it either b/c she does not have the facial features and we don't have confirmation of alcohol use during pregnancy.

 

He really thought something genetic was going on and said we'd have about a 50% chance of finding out what it was. I was fully expecting to be in the other 50% (which would have been more frustrating to me). I was shocked to hear this! It doesn't change anything for her treatment, but it is good to know.

 

Anyway... going tomorrow to see what else they say. IF they say anything else. Because everything I've asked so far was answered with, "there's not any research".

 

Do the geneticists document you guys? She will be documented on a yearly basis.

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My dd was just diagnosed with a chromosome duplication that's extremely rare - only 4 documented cases of it so no research, no google, nada.

 

I just need to not feel so alone. :)

 

Oh, no! Although I have a close relationship with a teen with a mitochondrial disorder, I don't have any real experience. Just wanted to send you love, and let you know that I'm thinking of you. I hope you find the support you and your daughter need.

 

Hana

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My middle son Parker, has a disease that leaves him unable to eat sugar or dairy.His body doesn't produce the enzymes to digest them. He can eat HFCS though because it is SO processed that his body doesn't recognize it as a sugar (Its the SAME as Sugar right? Corn Sugar!:glare:) It makes him terribly sick, and he was diagnosed before his second birthday. There are only around 5000 documented cases of it in the world. I understand feeling lonely.

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Oh, no! Although I have a close relationship with a teen with a mitochondrial disorder, I don't have any real experience. Just wanted to send you love, and let you know that I'm thinking of you. I hope you find the support you and your daughter need.

 

Hana

 

Hana, thank you! How are you, friend?

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My middle son Parker, has a disease that leaves him unable to eat sugar or dairy.His body doesn't produce the enzymes to digest them. He can eat HFCS though because it is SO processed that his body doesn't recognize it as a sugar (Its the SAME as Sugar right? Corn Sugar!:glare:) It makes him terribly sick, and he was diagnosed before his second birthday. There are only around 5000 documented cases of it in the world. I understand feeling lonely.

 

Wow, how hard! And I thought gluten free was difficult. :grouphug:

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Our main diagnosis is "Hmmmmmm, interesting"----the medical translation of which means, "I don't have the faintest clue of what is going on but if I figure this out I might be famous."

 

It does help though to have a MEDICAL diagnosis as not all insurances will pay for OT, PT, speech, etc. under FAS but they will under a medical Dx.

 

Right now we see a peds neurologist that works with mito issues. He works under the nobel peace prize winner in this and they still can't figure my girls out. We are part of the genetics bank and have had lots of tests done. I just don't want them to be research "projects" but it is hard to know what tests might give us answers.

 

My girls are adopted but full bio sisters. We would love to find their bio siblings to maybe get more pieces to the puzzle.

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