You went and got a PhD in genetics and actually opened a center dedicated to the disability which your daughter has?! Man, you were not playing around! You are amazing.
Jannine - seeing your daughter on Special Books By Special Kids is a video I often watch when I think of her. I just want to hug her and let her know with a beautiful personality like that she would never be without friends. I'd happily be her friend any day.
We just got my sons results back and it says 18q duplications. What does that mean? He was diagnosed with an intellectual disibility last year so his dr decided to do some testing. Thankyou!
@@janninecody9516 Have they all been tested for both level of and resistance to all other hormones? I'm on a genetics waiting list to get tested, with chromosome 18 abnormalities in my top 3 suspicions. I've learned that multiple hormone resistances and hormone imbalances, especially thyroid hormone, PTH and PTLH, are found in all of the conditions that present with extremely similar features (i.e. some of the imprinting disorders, most of the conditions known as iPPSDs, and 2q37, which interestingly has been found to often co-occur with the iPPSDs when 2q37 deletion patients actually get those genes tested for too). Based on the high prevalence of orthostatic hypotension or undiagnosed symptoms thereof, and because of certain renin-angiotensin-aldosterone genes within the affected regions, i suspect that if aldosterone were tested, these extremely similar conditions might share abnormalities in that too. I've been referred to endocrinology but I will be waiting months, all I know right now is that my estrogen, progesterone and thyroid hormone levels are normal, but nobody has tested my end-organ sensitivity to those or any other hormone. I have worsening symptoms, as if my body is decompensating after decades untreated. My heart is a likely culprit as well, especially as I fit the profile of Woolly Hair with Keratoderma Type 3, associated with adult-onset progressive cardiomyopathy and with mutation or deletion of DCS2 at 18q12. At the age of 33 my symptoms of PTH, PTLH and/or aldosterone problems and/or cardiac issues are getting worse, and if other patients can be prevented from going untreated all this time I would like to raise the alarm on that. I'm glad I stopped growing at 12 though, because being short means I need fewer calories each day, which is important when you're poor.
Mam my daughter in law conceived by ICSi but by 3 rd month they aborted dur to edward syndrome for baby.no family history.daughtee in law age 31 son 36.what about next pregnancy mam
You went and got a PhD in genetics and actually opened a center dedicated to the disability which your daughter has?! Man, you were not playing around! You are amazing.
You and your daughter are totally amazing
yeah she is even more amazing in person both her and her family
You are an amazing person Dr. Cody. Such an example for all the parents and people out there. ❤ We love Liz.
Jannine - seeing your daughter on Special Books By Special Kids is a video I often watch when I think of her. I just want to hug her and let her know with a beautiful personality like that she would never be without friends. I'd happily be her friend any day.
I am now one of the families of chromosome 18 abnormalities as of November 15, 2019
I have 18q11
And my daughter 13 years ago had 18q11 she had similar diagnosis as 22q11
We just got my sons results back and it says 18q duplications. What does that mean? He was diagnosed with an intellectual disibility last year so his dr decided to do some testing. Thankyou!
Thank god for that progressive doctor....
So is there treatment besides growth hormone ?
At this point all treatments are symptomatic. Growth hormone if they are growth hormone deficient, hearing aids if they are hearing impaired etc.
@@janninecody9516 Have they all been tested for both level of and resistance to all other hormones? I'm on a genetics waiting list to get tested, with chromosome 18 abnormalities in my top 3 suspicions. I've learned that multiple hormone resistances and hormone imbalances, especially thyroid hormone, PTH and PTLH, are found in all of the conditions that present with extremely similar features (i.e. some of the imprinting disorders, most of the conditions known as iPPSDs, and 2q37, which interestingly has been found to often co-occur with the iPPSDs when 2q37 deletion patients actually get those genes tested for too). Based on the high prevalence of orthostatic hypotension or undiagnosed symptoms thereof, and because of certain renin-angiotensin-aldosterone genes within the affected regions, i suspect that if aldosterone were tested, these extremely similar conditions might share abnormalities in that too.
I've been referred to endocrinology but I will be waiting months, all I know right now is that my estrogen, progesterone and thyroid hormone levels are normal, but nobody has tested my end-organ sensitivity to those or any other hormone. I have worsening symptoms, as if my body is decompensating after decades untreated. My heart is a likely culprit as well, especially as I fit the profile of Woolly Hair with Keratoderma Type 3, associated with adult-onset progressive cardiomyopathy and with mutation or deletion of DCS2 at 18q12. At the age of 33 my symptoms of PTH, PTLH and/or aldosterone problems and/or cardiac issues are getting worse, and if other patients can be prevented from going untreated all this time I would like to raise the alarm on that. I'm glad I stopped growing at 12 though, because being short means I need fewer calories each day, which is important when you're poor.
not everyone that has a 18 chromone abnormality need growth hormones adn treatmeat just means working with the ability that they have
Mam my daughter in law conceived by ICSi but by 3 rd month they aborted dur to edward syndrome for baby.no family history.daughtee in law age 31 son 36.what about next pregnancy mam
dr cody is not a obgyn so you would need to ask an obygn that
My daughter has a pitt hoppkin syndrome anyone help me plz
Please contact the Chromosome 18 Registry and Research Society, office@chromosome18.org or www.chromosome18.org