Newly diagnosed with the S945L mutation - anyone ever heard of it??

T

TeamColinD

New member
Hi there. I am soooo glad I found this website and you all!! These last two days mine & my husbands heads have been whirling from the confirmed diagnosis of our littlest guy, Colin, born last August. So far he has no symptoms (Thank God!) but during his newborn screening, F508 was identified. The results from the newborn screening were sent to the wrong pediatrician's office for over a month before our doctor got them. And after 10 terribly long weeks of waiting for his genetic sequencing test results to come in, we found out this past Tuesday that the 2nd mutation was found - S945L. Our doctor said he's never heard of it. Anyone out there have a child with this mutation or can offer any advice?

Samantha
Mommie to three sweet boys <img src="i/expressions/face-icon-small-smile.gif" border="0">
Dylan (4yrs), Connor (2yrs), Colin (4 months/CF)
 
T

TeamColinD

New member
Hi there. I am soooo glad I found this website and you all!! These last two days mine & my husbands heads have been whirling from the confirmed diagnosis of our littlest guy, Colin, born last August. So far he has no symptoms (Thank God!) but during his newborn screening, F508 was identified. The results from the newborn screening were sent to the wrong pediatrician's office for over a month before our doctor got them. And after 10 terribly long weeks of waiting for his genetic sequencing test results to come in, we found out this past Tuesday that the 2nd mutation was found - S945L. Our doctor said he's never heard of it. Anyone out there have a child with this mutation or can offer any advice?

Samantha
Mommie to three sweet boys <img src="i/expressions/face-icon-small-smile.gif" border="0">
Dylan (4yrs), Connor (2yrs), Colin (4 months/CF)
 
T

TeamColinD

New member
Hi there. I am soooo glad I found this website and you all!! These last two days mine & my husbands heads have been whirling from the confirmed diagnosis of our littlest guy, Colin, born last August. So far he has no symptoms (Thank God!) but during his newborn screening, F508 was identified. The results from the newborn screening were sent to the wrong pediatrician's office for over a month before our doctor got them. And after 10 terribly long weeks of waiting for his genetic sequencing test results to come in, we found out this past Tuesday that the 2nd mutation was found - S945L. Our doctor said he's never heard of it. Anyone out there have a child with this mutation or can offer any advice?

Samantha
Mommie to three sweet boys <img src="i/expressions/face-icon-small-smile.gif" border="0">
Dylan (4yrs), Connor (2yrs), Colin (4 months/CF)
 
T

TeamColinD

New member
Hi there. I am soooo glad I found this website and you all!! These last two days mine & my husbands heads have been whirling from the confirmed diagnosis of our littlest guy, Colin, born last August. So far he has no symptoms (Thank God!) but during his newborn screening, F508 was identified. The results from the newborn screening were sent to the wrong pediatrician's office for over a month before our doctor got them. And after 10 terribly long weeks of waiting for his genetic sequencing test results to come in, we found out this past Tuesday that the 2nd mutation was found - S945L. Our doctor said he's never heard of it. Anyone out there have a child with this mutation or can offer any advice?

Samantha
Mommie to three sweet boys <img src="i/expressions/face-icon-small-smile.gif" border="0">
Dylan (4yrs), Connor (2yrs), Colin (4 months/CF)
 
T

TeamColinD

New member
Hi there. I am soooo glad I found this website and you all!! These last two days mine & my husbands heads have been whirling from the confirmed diagnosis of our littlest guy, Colin, born last August. So far he has no symptoms (Thank God!) but during his newborn screening, F508 was identified. The results from the newborn screening were sent to the wrong pediatrician's office for over a month before our doctor got them. And after 10 terribly long weeks of waiting for his genetic sequencing test results to come in, we found out this past Tuesday that the 2nd mutation was found - S945L. Our doctor said he's never heard of it. Anyone out there have a child with this mutation or can offer any advice?
<br />
<br />Samantha
<br />Mommie to three sweet boys <img src="i/expressions/face-icon-small-smile.gif" border="0">
<br />Dylan (4yrs), Connor (2yrs), Colin (4 months/CF)
 
J

JazzysMom

New member
I would suggest posting to Steve from Ambry Genetics in the Ambry thread under the Family Section. He is very knowledagle & IF anyone knows ANYTHING about ANY CF mutations, he would.

Just remember that its not written in stone, but is a "guide" of sorts only.

Welcome to the site BTW!
 
J

JazzysMom

New member
I would suggest posting to Steve from Ambry Genetics in the Ambry thread under the Family Section. He is very knowledagle & IF anyone knows ANYTHING about ANY CF mutations, he would.

Just remember that its not written in stone, but is a "guide" of sorts only.

Welcome to the site BTW!
 
J

JazzysMom

New member
I would suggest posting to Steve from Ambry Genetics in the Ambry thread under the Family Section. He is very knowledagle & IF anyone knows ANYTHING about ANY CF mutations, he would.

Just remember that its not written in stone, but is a "guide" of sorts only.

Welcome to the site BTW!
 
J

JazzysMom

New member
I would suggest posting to Steve from Ambry Genetics in the Ambry thread under the Family Section. He is very knowledagle & IF anyone knows ANYTHING about ANY CF mutations, he would.

Just remember that its not written in stone, but is a "guide" of sorts only.

Welcome to the site BTW!
 
J

JazzysMom

New member
I would suggest posting to Steve from Ambry Genetics in the Ambry thread under the Family Section. He is very knowledagle & IF anyone knows ANYTHING about ANY CF mutations, he would.
<br />
<br />Just remember that its not written in stone, but is a "guide" of sorts only.
<br />
<br />Welcome to the site BTW!
 
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