I think maybe I should introduce myself! (heart mom)

jko123 · March 2010

I rarely post here...but do lurk here a lot!

DS has Hypoplastic Left Heart Syndrome (post Norwood procedure and Glenn procedure), had a G-tube, and has a chromosome depletion. He has 16p12.1. We've gotten no answers whatsoever about the chromosome depletion though after many meetings with genetics. All they tell us is that since DH, who also has 16p12.1 is "heart healthy" that's not the cause of DS's heart defect...but that it has been known to cause heart defects?! They are also watching him for Autism, since according to his genetics counselor Autism has been linked to the 16th chromosome, but they say that there's so many other disorders linked to that chromosome! I usually leave their office with my head spinning - genetics makes absolutely no sense to me!

Anyways - DS is doing well now. His Fontan (hopefully last OHS) is scheduled to be shortly after his 2nd birthday!

I just thought it was time to introduce myself even though I don't comment unless it's something I'm familiar with!

meghans30 · March 2010

welcome. I do not have experience with any of these issues, but I think mommyof4boys is dealing with the same chromosome 16 deletion.

Justinlove · March 2010

The one thing I have learned about genetics is how little they really know about it. I honestly think the geneticists heads spin a bit too each time something new is discovered that adds another "kink" in the armor so to speak. Welcome to the board

jko123 · March 2010

Thanks ladies!

mskolman · March 2010

Welcome! I am a heart mom and my son also has a deletion...22q. His defect was Tetrology of Fallot with Absent Pulmonary Valve. He has had terrible airway issues due to his particular heart defect, but has been home since last June. In the hospital, we saw many HLHS cases, as the hospital he was at has a surgeon that is very well known for doing surgeries for HLHS. Good to hear he is doing well after his surgeries so far!

The effects of the 22q deletion widely vary, so it is really a waiting game. Genetics can be so confusing, and although we have come so far in this area, it can just cause more confusion. You aren't the only one!

jlh123 · March 2010

jko123:

I rarely post here...but do lurk here a lot!

DS has Hypoplastic Left Heart Syndrome (post Norwood procedure and Glenn procedure), had a G-tube, and has a chromosome depletion. He has 16p12.1. We've gotten no answers whatsoever about the chromosome depletion though after many meetings with genetics. All they tell us is that since DH, who also has 16p12.1 is "heart healthy" that's not the cause of DS's heart defect...but that it has been known to cause heart defects?! They are also watching him for Autism, since according to his genetics counselor Autism has been linked to the 16th chromosome, but they say that there's so many other disorders linked to that chromosome! I usually leave their office with my head spinning - genetics makes absolutely no sense to me!

Anyways - DS is doing well now. His Fontan (hopefully last OHS) is scheduled to be shortly after his 2nd birthday!

I just thought it was time to introduce myself even though I don't comment unless it's something I'm familiar with!

Your little one is adorable! My nephew has HLHS and just celebrated his 10 year old birthday. I'm glad yours is doing so well. I hope all will be done for you after the Fontan, I'm sure it will. Where does he have his surgeries at?

mommyof4boys · March 2010

Hi there! My 2 year old has 16p11.2 duplication syndrome and PDD_NOS. Have you been able to find any information on the 16th chrosome syndromes? I have a few websites if you are interested and we are going to the Children's Hospital of Boston in May for a genecist appoitment. Although Christopher isn't a heart baby, he has low muscle tone, has a language delay, sensory delay, congnative delay, and some physical issues. We are going to be testing our son Matthew as well. I have found a place on facebook called Unique as is the website that I was able to find the information on the syndromes. https://www.rarechromo.org/html/home.asp; This may help.

jko123 · March 2010

jlh123:
jko123:

I rarely post here...but do lurk here a lot!

DS has Hypoplastic Left Heart Syndrome (post Norwood procedure and Glenn procedure), had a G-tube, and has a chromosome depletion. He has 16p12.1. We've gotten no answers whatsoever about the chromosome depletion though after many meetings with genetics. All they tell us is that since DH, who also has 16p12.1 is "heart healthy" that's not the cause of DS's heart defect...but that it has been known to cause heart defects?! They are also watching him for Autism, since according to his genetics counselor Autism has been linked to the 16th chromosome, but they say that there's so many other disorders linked to that chromosome! I usually leave their office with my head spinning - genetics makes absolutely no sense to me!

Anyways - DS is doing well now. His Fontan (hopefully last OHS) is scheduled to be shortly after his 2nd birthday!

I just thought it was time to introduce myself even though I don't comment unless it's something I'm familiar with!

Your little one is adorable! My nephew has HLHS and just celebrated his 10 year old birthday. I'm glad yours is doing so well. I hope all will be done for you after the Fontan, I'm sure it will. Where does he have his surgeries at?

Thanks He has his surgeries at Kosair in Louisville, KY

jko123 · March 2010

mommyof4boys:
Hi there! My 2 year old has 16p11.2 duplication syndrome and PDD_NOS. Have you been able to find any information on the 16th chrosome syndromes? I have a few websites if you are interested and we are going to the Children's Hospital of Boston in May for a genecist appoitment. Although Christopher isn't a heart baby, he has low muscle tone, has a language delay, sensory delay, congnative delay, and some physical issues. We are going to be testing our son Matthew as well. I have found a place on facebook called Unique as is the website that I was able to find the information on the syndromes. https://www.rarechromo.org/html/home.asp; This may help.

Hi!! I've googled 16th chromosome depletions,but haven't got a lot of information on it! Our genetics counselor hasn't been much help at all since he claims he "doesn't know much about 16p12.1". DH has the same depletion, but is perfectly healthy as far as we know. I'd love to see the websites you have, and will definitely check out the link!! Thank you so much!! Sorry this is so short and a bit choppy...my mind isn't working right today!

jlh123 · March 2010

jko123:
jlh123:
jko123:

I rarely post here...but do lurk here a lot!

DS has Hypoplastic Left Heart Syndrome (post Norwood procedure and Glenn procedure), had a G-tube, and has a chromosome depletion. He has 16p12.1. We've gotten no answers whatsoever about the chromosome depletion though after many meetings with genetics. All they tell us is that since DH, who also has 16p12.1 is "heart healthy" that's not the cause of DS's heart defect...but that it has been known to cause heart defects?! They are also watching him for Autism, since according to his genetics counselor Autism has been linked to the 16th chromosome, but they say that there's so many other disorders linked to that chromosome! I usually leave their office with my head spinning - genetics makes absolutely no sense to me!

Anyways - DS is doing well now. His Fontan (hopefully last OHS) is scheduled to be shortly after his 2nd birthday!

I just thought it was time to introduce myself even though I don't comment unless it's something I'm familiar with!

Your little one is adorable! My nephew has HLHS and just celebrated his 10 year old birthday. I'm glad yours is doing so well. I hope all will be done for you after the Fontan, I'm sure it will. Where does he have his surgeries at?

Thanks He has his surgeries at Kosair in Louisville, KY

Great! Best of luck to him and your family at his upcoming Fontan. I'm sure he'll do great and he'll be back up and running around in no time!

mommyof4boys · March 2010

jko123:

mommyof4boys:
Hi there! My 2 year old has 16p11.2 duplication syndrome and PDD_NOS. Have you been able to find any information on the 16th chrosome syndromes? I have a few websites if you are interested and we are going to the Children's Hospital of Boston in May for a genecist appoitment. Although Christopher isn't a heart baby, he has low muscle tone, has a language delay, sensory delay, congnative delay, and some physical issues. We are going to be testing our son Matthew as well. I have found a place on facebook called Unique as is the website that I was able to find the information on the syndromes. https://www.rarechromo.org/html/home.asp; This may help.

Hi!! I've googled 16th chromosome depletions,but haven't got a lot of information on it! Our genetics counselor hasn't been much help at all since he claims he "doesn't know much about 16p12.1". DH has the same depletion, but is perfectly healthy as far as we know. I'd love to see the websites you have, and will definitely check out the link!! Thank you so much!! Sorry this is so short and a bit choppy...my mind isn't working right today!

So, your son has a deletion on the 12.1 area on the p (short arm) of the 16th chromosome? We went to a genecist who didn't know much either. In fact, I knew more about the 16p11.2 syndrome than our developmental ped and this genecist! Do you know how much information is missing? From what I understand, the more information that is missing or put back in the more severe the related conditions. My son has a 555K area duplicated, which we are told, is the most common amount duplicated. I can give you my e-mail address and we can chat more if you want, mommy24boys at hotmail dot com. There's a group of us on facebook who have children with the same condition as Christopher and no one can get a straight answer as well. We're gathering our own information to go to our genecists with it. From what I understand, the 12.1 area is close to the 11.2 area. They are the areas right next to each other in the 16th chromosome.

jko123 · March 2010

mommyof4boys:
jko123:

mommyof4boys:
Hi there! My 2 year old has 16p11.2 duplication syndrome and PDD_NOS. Have you been able to find any information on the 16th chrosome syndromes? I have a few websites if you are interested and we are going to the Children's Hospital of Boston in May for a genecist appoitment. Although Christopher isn't a heart baby, he has low muscle tone, has a language delay, sensory delay, congnative delay, and some physical issues. We are going to be testing our son Matthew as well. I have found a place on facebook called Unique as is the website that I was able to find the information on the syndromes. https://www.rarechromo.org/html/home.asp; This may help.

Hi!! I've googled 16th chromosome depletions,but haven't got a lot of information on it! Our genetics counselor hasn't been much help at all since he claims he "doesn't know much about 16p12.1". DH has the same depletion, but is perfectly healthy as far as we know. I'd love to see the websites you have, and will definitely check out the link!! Thank you so much!! Sorry this is so short and a bit choppy...my mind isn't working right today!

So, your son has a deletion on the 12.1 area on the p (short arm) of the 16th chromosome? We went to a genecist who didn't know much either. In fact, I knew more about the 16p11.2 syndrome than our developmental ped and this genecist! Do you know how much information is missing? From what I understand, the more information that is missing or put back in the more severe the related conditions. My son has a 555K area duplicated, which we are told, is the most common amount duplicated. I can give you my e-mail address and we can chat more if you want, mommy24boys at hotmail dot com. There's a group of us on facebook who have children with the same condition as Christopher and no one can get a straight answer as well. We're gathering our own information to go to our genecists with it. From what I understand, the 12.1 area is close to the 11.2 area. They are the areas right next to each other in the 16th chromosome.

That's where it is...I don't remember exactly how much they said was missing, but I think it was a small amount! I'll have to ask my husband when he gets home from work!! I hate not having a strait answer about things...that makes my head spin even more than the appointments! I wrote down your email address - thank you so much for the help!!

Falioley · March 2010

Hello! I'm new here too.

smtaylor1 · April 2010

jko123:

I rarely post here...but do lurk here a lot!

DS has Hypoplastic Left Heart Syndrome (post Norwood procedure and Glenn procedure), had a G-tube, and has a chromosome depletion. He has 16p12.1. We've gotten no answers whatsoever about the chromosome depletion though after many meetings with genetics. All they tell us is that since DH, who also has 16p12.1 is "heart healthy" that's not the cause of DS's heart defect...but that it has been known to cause heart defects?! They are also watching him for Autism, since according to his genetics counselor Autism has been linked to the 16th chromosome, but they say that there's so many other disorders linked to that chromosome! I usually leave their office with my head spinning - genetics makes absolutely no sense to me!

Anyways - DS is doing well now. His Fontan (hopefully last OHS) is scheduled to be shortly after his 2nd birthday!

I just thought it was time to introduce myself even though I don't comment unless it's something I'm familiar with!

I'm not here often but I thought I'd say welcome! Our little guy (still pregnant with him) will also have to have a Semi-Fontan and a Fontan surgery along with others. I'd be interested in talking to you if you are okay with that as to how to handle a newborn with heart problems. We have 5 heart defects that they have found :-(

jko123 · April 2010

smtaylor1:
jko123:

I rarely post here...but do lurk here a lot!

DS has Hypoplastic Left Heart Syndrome (post Norwood procedure and Glenn procedure), had a G-tube, and has a chromosome depletion. He has 16p12.1. We've gotten no answers whatsoever about the chromosome depletion though after many meetings with genetics. All they tell us is that since DH, who also has 16p12.1 is "heart healthy" that's not the cause of DS's heart defect...but that it has been known to cause heart defects?! They are also watching him for Autism, since according to his genetics counselor Autism has been linked to the 16th chromosome, but they say that there's so many other disorders linked to that chromosome! I usually leave their office with my head spinning - genetics makes absolutely no sense to me!

Anyways - DS is doing well now. His Fontan (hopefully last OHS) is scheduled to be shortly after his 2nd birthday!

I just thought it was time to introduce myself even though I don't comment unless it's something I'm familiar with!

I'm not here often but I thought I'd say welcome! Our little guy (still pregnant with him) will also have to have a Semi-Fontan and a Fontan surgery along with others. I'd be interested in talking to you if you are okay with that as to how to handle a newborn with heart problems. We have 5 heart defects that they have found :-(

Sorry to hear that he'll have to undergo surgery when he's born! I'd love to talk to you about handling a newborn with heart problems!! Any questions you have I'd be happy to help! What defects does he have?

lissalynn33 · August 2010

Hi!

I'm so happy i found this! My daughter was just diagnoised with 16p11.2 duplication. I would love to share info with you. Please contact me when ever you have time. melissalynn31@gmail.com

I think maybe I should introduce myself! (heart mom)

Re: I think maybe I should introduce myself! (heart mom)

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