Genetic Results in

peanut07 · Oct 18, 2007

Well after 12 weeks I finally received the results of my son's gene sequencing. According to the geneticist, no mutations were found. She wants me to come back in to go over what other tests she would like to run. Also she wants to confer with the GI about another test that might be relevant to the low pre albumin levels that sparked this all off. However another round of blood testing a few months later did show all his levels to be within range.

If you aren't familiar with my situation my then 5yo had routine blood testing that showed low prealbumin levels, indicating malnutrition. GI believed it to be malabsorbtion. Fecal fat test came out normal, Celiac blood test was normal, but sweat tests were positive. 57/57 on one occasion and 74/92 on another occasion. (I finally got a hold of the exact numbers) Gene screening was negative and now complete gene sequencing is negative.

Ugh. I feel like I have been in limbo forever and although finding out he had no mutations seemed great the idea of further testing and further limbo is horrible.

Thanks for reading,
Sandy

peanut07 · Oct 18, 2007

Well after 12 weeks I finally received the results of my son's gene sequencing. According to the geneticist, no mutations were found. She wants me to come back in to go over what other tests she would like to run. Also she wants to confer with the GI about another test that might be relevant to the low pre albumin levels that sparked this all off. However another round of blood testing a few months later did show all his levels to be within range.

If you aren't familiar with my situation my then 5yo had routine blood testing that showed low prealbumin levels, indicating malnutrition. GI believed it to be malabsorbtion. Fecal fat test came out normal, Celiac blood test was normal, but sweat tests were positive. 57/57 on one occasion and 74/92 on another occasion. (I finally got a hold of the exact numbers) Gene screening was negative and now complete gene sequencing is negative.

Ugh. I feel like I have been in limbo forever and although finding out he had no mutations seemed great the idea of further testing and further limbo is horrible.

Thanks for reading,
Sandy

peanut07 · Oct 18, 2007

Well after 12 weeks I finally received the results of my son's gene sequencing. According to the geneticist, no mutations were found. She wants me to come back in to go over what other tests she would like to run. Also she wants to confer with the GI about another test that might be relevant to the low pre albumin levels that sparked this all off. However another round of blood testing a few months later did show all his levels to be within range.

If you aren't familiar with my situation my then 5yo had routine blood testing that showed low prealbumin levels, indicating malnutrition. GI believed it to be malabsorbtion. Fecal fat test came out normal, Celiac blood test was normal, but sweat tests were positive. 57/57 on one occasion and 74/92 on another occasion. (I finally got a hold of the exact numbers) Gene screening was negative and now complete gene sequencing is negative.

Ugh. I feel like I have been in limbo forever and although finding out he had no mutations seemed great the idea of further testing and further limbo is horrible.

Thanks for reading,
Sandy

peanut07 · Oct 18, 2007

Well after 12 weeks I finally received the results of my son's gene sequencing. According to the geneticist, no mutations were found. She wants me to come back in to go over what other tests she would like to run. Also she wants to confer with the GI about another test that might be relevant to the low pre albumin levels that sparked this all off. However another round of blood testing a few months later did show all his levels to be within range.

If you aren't familiar with my situation my then 5yo had routine blood testing that showed low prealbumin levels, indicating malnutrition. GI believed it to be malabsorbtion. Fecal fat test came out normal, Celiac blood test was normal, but sweat tests were positive. 57/57 on one occasion and 74/92 on another occasion. (I finally got a hold of the exact numbers) Gene screening was negative and now complete gene sequencing is negative.

Ugh. I feel like I have been in limbo forever and although finding out he had no mutations seemed great the idea of further testing and further limbo is horrible.

Thanks for reading,
Sandy

peanut07 · Oct 18, 2007

Well after 12 weeks I finally received the results of my son's gene sequencing. According to the geneticist, no mutations were found. She wants me to come back in to go over what other tests she would like to run. Also she wants to confer with the GI about another test that might be relevant to the low pre albumin levels that sparked this all off. However another round of blood testing a few months later did show all his levels to be within range.

If you aren't familiar with my situation my then 5yo had routine blood testing that showed low prealbumin levels, indicating malnutrition. GI believed it to be malabsorbtion. Fecal fat test came out normal, Celiac blood test was normal, but sweat tests were positive. 57/57 on one occasion and 74/92 on another occasion. (I finally got a hold of the exact numbers) Gene screening was negative and now complete gene sequencing is negative.

Ugh. I feel like I have been in limbo forever and although finding out he had no mutations seemed great the idea of further testing and further limbo is horrible.

Thanks for reading,
Sandy

sdelorenzo · Oct 18, 2007

I am assuming that your son has been diagnosed with cf since he has positive sweat tests. Did he get the Ambry or Quest genetic testing? I would think the best thing would be is to continue to treat him as he has cf and continue to see a pulmonologist and GI dr to monitor things. But it is a challening case without identified genes. I can imagine all of this is very frustrating.
Sharon, mom of Sophia, 6 and Jack, 4 both with cf

sdelorenzo · Oct 18, 2007

I am assuming that your son has been diagnosed with cf since he has positive sweat tests. Did he get the Ambry or Quest genetic testing? I would think the best thing would be is to continue to treat him as he has cf and continue to see a pulmonologist and GI dr to monitor things. But it is a challening case without identified genes. I can imagine all of this is very frustrating.
Sharon, mom of Sophia, 6 and Jack, 4 both with cf

sdelorenzo · Oct 18, 2007

I am assuming that your son has been diagnosed with cf since he has positive sweat tests. Did he get the Ambry or Quest genetic testing? I would think the best thing would be is to continue to treat him as he has cf and continue to see a pulmonologist and GI dr to monitor things. But it is a challening case without identified genes. I can imagine all of this is very frustrating.
Sharon, mom of Sophia, 6 and Jack, 4 both with cf

sdelorenzo · Oct 18, 2007

I am assuming that your son has been diagnosed with cf since he has positive sweat tests. Did he get the Ambry or Quest genetic testing? I would think the best thing would be is to continue to treat him as he has cf and continue to see a pulmonologist and GI dr to monitor things. But it is a challening case without identified genes. I can imagine all of this is very frustrating.
Sharon, mom of Sophia, 6 and Jack, 4 both with cf

sdelorenzo · Oct 18, 2007

I am assuming that your son has been diagnosed with cf since he has positive sweat tests. Did he get the Ambry or Quest genetic testing? I would think the best thing would be is to continue to treat him as he has cf and continue to see a pulmonologist and GI dr to monitor things. But it is a challening case without identified genes. I can imagine all of this is very frustrating.
Sharon, mom of Sophia, 6 and Jack, 4 both with cf

Mommafirst · Oct 18, 2007

Oh Sandy, I'm sorry to hear you are in limbo still. I'm glad he has no genes. I did just read somewhere that malnutrition is enough to get elevated and even false positive sweat tests. I hope you can figure what is causing the malnutrition issues. Has he been tested for Crone's?? Or Swachman Diamond Syndrome? Good luck!! Limbo stinks!!

Mommafirst · Oct 18, 2007

Oh Sandy, I'm sorry to hear you are in limbo still. I'm glad he has no genes. I did just read somewhere that malnutrition is enough to get elevated and even false positive sweat tests. I hope you can figure what is causing the malnutrition issues. Has he been tested for Crone's?? Or Swachman Diamond Syndrome? Good luck!! Limbo stinks!!

Mommafirst · Oct 18, 2007

Oh Sandy, I'm sorry to hear you are in limbo still. I'm glad he has no genes. I did just read somewhere that malnutrition is enough to get elevated and even false positive sweat tests. I hope you can figure what is causing the malnutrition issues. Has he been tested for Crone's?? Or Swachman Diamond Syndrome? Good luck!! Limbo stinks!!

Mommafirst · Oct 18, 2007

Oh Sandy, I'm sorry to hear you are in limbo still. I'm glad he has no genes. I did just read somewhere that malnutrition is enough to get elevated and even false positive sweat tests. I hope you can figure what is causing the malnutrition issues. Has he been tested for Crone's?? Or Swachman Diamond Syndrome? Good luck!! Limbo stinks!!

Mommafirst · Oct 18, 2007

Oh Sandy, I'm sorry to hear you are in limbo still. I'm glad he has no genes. I did just read somewhere that malnutrition is enough to get elevated and even false positive sweat tests. I hope you can figure what is causing the malnutrition issues. Has he been tested for Crone's?? Or Swachman Diamond Syndrome? Good luck!! Limbo stinks!!

Alyssa · Oct 20, 2007