still waiting

M

momofcash

Guest
On February 8th our pediatrician told us our son now 14 months had CF. on Feb 12th we wee told he is probably just a carrier because he was so tall...we know he has one copy of G542X mutation...he had very few pulmonary issues...usually we don't see constipation as an issue blah blah. on feb 13th the sweat test cameback borderline. we were told 4-6 weeks for the results of the full genetic panel. It was 6 weeks today. We were told atleast 1 more week. <b>I feel like running my head into the wall.</b> I was better when I believed he had CF...I cried for 72 hours straight...but I was preparing to manage his diet, exercise, etc...it was known . All the problems he has had in the meantime have been...I don't know how to explain...let's wait until we get the test results....all this suffering...all the needles...the petechiae...the suffering....I just want to know why...for 3 days I believed my son had CF and atleast I had a reason for it all...I knew there were treatments...now if it is not CF there will be more tests...more waiting. There have been so many already. Please pray that we get an answer soon. Sorry to ramble...I just need to vent.
 
M

momofcash

Guest
On February 8th our pediatrician told us our son now 14 months had CF. on Feb 12th we wee told he is probably just a carrier because he was so tall...we know he has one copy of G542X mutation...he had very few pulmonary issues...usually we don't see constipation as an issue blah blah. on feb 13th the sweat test cameback borderline. we were told 4-6 weeks for the results of the full genetic panel. It was 6 weeks today. We were told atleast 1 more week. <b>I feel like running my head into the wall.</b> I was better when I believed he had CF...I cried for 72 hours straight...but I was preparing to manage his diet, exercise, etc...it was known . All the problems he has had in the meantime have been...I don't know how to explain...let's wait until we get the test results....all this suffering...all the needles...the petechiae...the suffering....I just want to know why...for 3 days I believed my son had CF and atleast I had a reason for it all...I knew there were treatments...now if it is not CF there will be more tests...more waiting. There have been so many already. Please pray that we get an answer soon. Sorry to ramble...I just need to vent.
 
M

momofcash

Guest
On February 8th our pediatrician told us our son now 14 months had CF. on Feb 12th we wee told he is probably just a carrier because he was so tall...we know he has one copy of G542X mutation...he had very few pulmonary issues...usually we don't see constipation as an issue blah blah. on feb 13th the sweat test cameback borderline. we were told 4-6 weeks for the results of the full genetic panel. It was 6 weeks today. We were told atleast 1 more week. <b>I feel like running my head into the wall.</b> I was better when I believed he had CF...I cried for 72 hours straight...but I was preparing to manage his diet, exercise, etc...it was known . All the problems he has had in the meantime have been...I don't know how to explain...let's wait until we get the test results....all this suffering...all the needles...the petechiae...the suffering....I just want to know why...for 3 days I believed my son had CF and atleast I had a reason for it all...I knew there were treatments...now if it is not CF there will be more tests...more waiting. There have been so many already. Please pray that we get an answer soon. Sorry to ramble...I just need to vent.
 
O

okok

New member
I know how horrible the uncertainty is. I know that this probably won't help you at all but the best thing to do is to keep your mind off your son's health until you find out what is going on. You probably shouldn't be online reading forums... that said what sort of idiotic people would tell you your child had CF prior to doing a sweat test??? Were they basing this conclusion on your child's genetic test showing your son was a carrier?? And why did they tell you 4 days later that your child didn't have cf because his height? What a ludicrous thing to say. My dd was just under 50% at the time of her diagnosis AND she was two months older then your son. Anyway oridnarily i woud advise you to get new doctors who actually know what they are doing but i think they sound OK since they ordered the ambry amplified test.

Anyway try to relax. It won't be too much longer before you have some answers.
 
O

okok

New member
I know how horrible the uncertainty is. I know that this probably won't help you at all but the best thing to do is to keep your mind off your son's health until you find out what is going on. You probably shouldn't be online reading forums... that said what sort of idiotic people would tell you your child had CF prior to doing a sweat test??? Were they basing this conclusion on your child's genetic test showing your son was a carrier?? And why did they tell you 4 days later that your child didn't have cf because his height? What a ludicrous thing to say. My dd was just under 50% at the time of her diagnosis AND she was two months older then your son. Anyway oridnarily i woud advise you to get new doctors who actually know what they are doing but i think they sound OK since they ordered the ambry amplified test.

Anyway try to relax. It won't be too much longer before you have some answers.
 
O

okok

New member
I know how horrible the uncertainty is. I know that this probably won't help you at all but the best thing to do is to keep your mind off your son's health until you find out what is going on. You probably shouldn't be online reading forums... that said what sort of idiotic people would tell you your child had CF prior to doing a sweat test??? Were they basing this conclusion on your child's genetic test showing your son was a carrier?? And why did they tell you 4 days later that your child didn't have cf because his height? What a ludicrous thing to say. My dd was just under 50% at the time of her diagnosis AND she was two months older then your son. Anyway oridnarily i woud advise you to get new doctors who actually know what they are doing but i think they sound OK since they ordered the ambry amplified test.

Anyway try to relax. It won't be too much longer before you have some answers.
 
M

momofcash

Guest
My son was hospitalized for a blockage in his bowels again...they did a screening that showed he was positive for the cf mutation G542x...I was told that my son had CF not that they had only seen one copy of the mutation and that it was a pretty narrow test they ran...4 days later we went to see a pulmonologist that we thought was part of the Cf team...she really only did reasearch and she told us she was pretty sure our son was only a carrier because his height was in the 90th percentile and he looks so healthy..(his weight only 50 percentile) my two older children are amazingly tall and have always been in the 90plus percentile of both their entire lives. she was ninety something percent positive that he didnt have cf...she ordered the sweat test for the next day (welive 2 hours away)...so we went back and his sweat test was borderline...we met with a geneticist who ordered a full genetic screen...told us some 6 weeks max...usually not that long...I had it marked on my calendar
 
M

momofcash

Guest
My son was hospitalized for a blockage in his bowels again...they did a screening that showed he was positive for the cf mutation G542x...I was told that my son had CF not that they had only seen one copy of the mutation and that it was a pretty narrow test they ran...4 days later we went to see a pulmonologist that we thought was part of the Cf team...she really only did reasearch and she told us she was pretty sure our son was only a carrier because his height was in the 90th percentile and he looks so healthy..(his weight only 50 percentile) my two older children are amazingly tall and have always been in the 90plus percentile of both their entire lives. she was ninety something percent positive that he didnt have cf...she ordered the sweat test for the next day (welive 2 hours away)...so we went back and his sweat test was borderline...we met with a geneticist who ordered a full genetic screen...told us some 6 weeks max...usually not that long...I had it marked on my calendar
 
M

momofcash

Guest
My son was hospitalized for a blockage in his bowels again...they did a screening that showed he was positive for the cf mutation G542x...I was told that my son had CF not that they had only seen one copy of the mutation and that it was a pretty narrow test they ran...4 days later we went to see a pulmonologist that we thought was part of the Cf team...she really only did reasearch and she told us she was pretty sure our son was only a carrier because his height was in the 90th percentile and he looks so healthy..(his weight only 50 percentile) my two older children are amazingly tall and have always been in the 90plus percentile of both their entire lives. she was ninety something percent positive that he didnt have cf...she ordered the sweat test for the next day (welive 2 hours away)...so we went back and his sweat test was borderline...we met with a geneticist who ordered a full genetic screen...told us some 6 weeks max...usually not that long...I had it marked on my calendar
 
J

JazzysMom

New member
IF the testing is being done with Ambry Genetics.....you can leave a message for Steve the Genetic Counselor from Ambry who is our Laison. Just post a message under the Family section in the Welcome Ambry Genetics thread (top of the page). Give your childs first name, gender, age and your location so he can look into it. He should be able to tell you at what stage the testing is at etc.
 
J

JazzysMom

New member
IF the testing is being done with Ambry Genetics.....you can leave a message for Steve the Genetic Counselor from Ambry who is our Laison. Just post a message under the Family section in the Welcome Ambry Genetics thread (top of the page). Give your childs first name, gender, age and your location so he can look into it. He should be able to tell you at what stage the testing is at etc.
 
J

JazzysMom

New member
IF the testing is being done with Ambry Genetics.....you can leave a message for Steve the Genetic Counselor from Ambry who is our Laison. Just post a message under the Family section in the Welcome Ambry Genetics thread (top of the page). Give your childs first name, gender, age and your location so he can look into it. He should be able to tell you at what stage the testing is at etc.
 
M

MYBOY

New member
Momofcash - I can't imagine what you are going thru. When my son was diagnosed at 6 months of age it was devastating and I cryed for 3 days too. His weight was like 5%. I can't believe they say just because he's tall he doesn't have cf. My son is now 10 and he is the tallest boy in his class and his weight is great too! Of course his dad is 6'7" and I'm 5'6" so he has height in the family. He does really good ever since his diagnosis - he's had some intestinal blockage the last couple years and nasal polyps removed 4 times - but not much lung problems yet. I wish you guys the best of luck!! And if it is cf hopefully you can start treating and he'll feel alot better again!
 
M

MYBOY

New member
Momofcash - I can't imagine what you are going thru. When my son was diagnosed at 6 months of age it was devastating and I cryed for 3 days too. His weight was like 5%. I can't believe they say just because he's tall he doesn't have cf. My son is now 10 and he is the tallest boy in his class and his weight is great too! Of course his dad is 6'7" and I'm 5'6" so he has height in the family. He does really good ever since his diagnosis - he's had some intestinal blockage the last couple years and nasal polyps removed 4 times - but not much lung problems yet. I wish you guys the best of luck!! And if it is cf hopefully you can start treating and he'll feel alot better again!
 
M

MYBOY

New member
Momofcash - I can't imagine what you are going thru. When my son was diagnosed at 6 months of age it was devastating and I cryed for 3 days too. His weight was like 5%. I can't believe they say just because he's tall he doesn't have cf. My son is now 10 and he is the tallest boy in his class and his weight is great too! Of course his dad is 6'7" and I'm 5'6" so he has height in the family. He does really good ever since his diagnosis - he's had some intestinal blockage the last couple years and nasal polyps removed 4 times - but not much lung problems yet. I wish you guys the best of luck!! And if it is cf hopefully you can start treating and he'll feel alot better again!
 
M

momofcash

Guest
Thank you Melissa for telling me about Steve. I knew someone made a mistake somewhere and they should have had his sample 4 weeks earlier, however I still don't know exactly who. I atleast know that Ambry has it and the end of this horrid waiting is near. Thank you everyone for letting me vent and for your support...and I am more relaxed for now it seems.
 
M

momofcash

Guest
Thank you Melissa for telling me about Steve. I knew someone made a mistake somewhere and they should have had his sample 4 weeks earlier, however I still don't know exactly who. I atleast know that Ambry has it and the end of this horrid waiting is near. Thank you everyone for letting me vent and for your support...and I am more relaxed for now it seems.
 
M

momofcash

Guest
Thank you Melissa for telling me about Steve. I knew someone made a mistake somewhere and they should have had his sample 4 weeks earlier, however I still don't know exactly who. I atleast know that Ambry has it and the end of this horrid waiting is near. Thank you everyone for letting me vent and for your support...and I am more relaxed for now it seems.
 
J

JazzysMom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>momofcash</b></i>

Thank you Melissa for telling me about Steve. I knew someone made a mistake somewhere and they should have had his sample 4 weeks earlier, however I still don't know exactly who. I atleast know that Ambry has it and the end of this horrid waiting is near. Thank you everyone for letting me vent and for your support...and I am more relaxed for now it seems.</end quote></div>


You are welcome. Having Steve & Ambry on board here has been a real help to many who are entering the CF arena.....
 
J

JazzysMom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>momofcash</b></i>

Thank you Melissa for telling me about Steve. I knew someone made a mistake somewhere and they should have had his sample 4 weeks earlier, however I still don't know exactly who. I atleast know that Ambry has it and the end of this horrid waiting is near. Thank you everyone for letting me vent and for your support...and I am more relaxed for now it seems.</end quote></div>


You are welcome. Having Steve & Ambry on board here has been a real help to many who are entering the CF arena.....
 
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