diagnosis story

[Mommafirst]

How about ..... the rest is herstory!!!

 

[Mommafirst]

How about ..... the rest is herstory!!!

 

[Mommafirst]

Alyssa was born with meconium illeus. It did not need surgery. For some reason the brain surgeons, I mean neonatologists <img src="i/expressions/face-icon-small-smile.gif" border="0">, didn't think this meant for sure that she had CF and SUGGESTED that we get a sweat test in a few months to make sure it wasn't CF -- but they were sure she was "just fine". <img src="i/expressions/face-icon-small-disgusted.gif" border="0"> 1 borderline (53) and several insufficient sweat tests later, the pulm finally said it was time to go to genetics. Basic panel revealed one mutation and we were told that she is "just fine" and we'll run the ambry amplified to be certain, but they thought she must just be a carrier. But nope, ambry amplified found mutation number 2. <br>
<br>
I still can't figure out why they didn't say that MI's were almost only found in babies with CF (I think the stat is over 90% of all MI's are CF related), and that we should assume CF until proven otherwise.

 

[Mommafirst]

Alyssa was born with meconium illeus. It did not need surgery. For some reason the brain surgeons, I mean neonatologists <img src="i/expressions/face-icon-small-smile.gif" border="0">, didn't think this meant for sure that she had CF and SUGGESTED that we get a sweat test in a few months to make sure it wasn't CF -- but they were sure she was "just fine". <img src="i/expressions/face-icon-small-disgusted.gif" border="0"> 1 borderline (53) and several insufficient sweat tests later, the pulm finally said it was time to go to genetics. Basic panel revealed one mutation and we were told that she is "just fine" and we'll run the ambry amplified to be certain, but they thought she must just be a carrier. But nope, ambry amplified found mutation number 2. <br>
<br>
I still can't figure out why they didn't say that MI's were almost only found in babies with CF (I think the stat is over 90% of all MI's are CF related), and that we should assume CF until proven otherwise.

 

[Mommafirst]

Alyssa was born with meconium illeus. It did not need surgery. For some reason the brain surgeons, I mean neonatologists <img src="i/expressions/face-icon-small-smile.gif" border="0">, didn't think this meant for sure that she had CF and SUGGESTED that we get a sweat test in a few months to make sure it wasn't CF -- but they were sure she was "just fine". <img src="i/expressions/face-icon-small-disgusted.gif" border="0"> 1 borderline (53) and several insufficient sweat tests later, the pulm finally said it was time to go to genetics. Basic panel revealed one mutation and we were told that she is "just fine" and we'll run the ambry amplified to be certain, but they thought she must just be a carrier. But nope, ambry amplified found mutation number 2. <br>
<br>
I still can't figure out why they didn't say that MI's were almost only found in babies with CF (I think the stat is over 90% of all MI's are CF related), and that we should assume CF until proven otherwise.

 

[lscharlat]

My daughter Anna was born with an intestinal blockage as well, she had a sweat test done in the NICU after her intestinal surgery, the sweat test came back negative and we were so relieved. Then they couldn't get her breathing under control and that's when they found the whole in her heart and a whole in one of her valves, after 2 months in the NICU we went home, we were back in the hospital 4 months later & Anna was on a ventilator for 4 weeks, she had bronchilitis. Then 2 years later she had open heart surgery and yet another intestinal surgery. Then after many pneumonia's I kept going back to the paediatrician and saying something isn't right, finally I took it upon myself to bring her to a pulmonologist, we were in his office for ten minutes and he said "I think she has CF". We had three sweat test done all in which were positive.

Sorry for some much typing this is actually the short version <img src="i/expressions/face-icon-small-smile.gif" border="0">.

Regards,
Lisa
Anna 4y/o w/CF

 

[lscharlat]

My daughter Anna was born with an intestinal blockage as well, she had a sweat test done in the NICU after her intestinal surgery, the sweat test came back negative and we were so relieved. Then they couldn't get her breathing under control and that's when they found the whole in her heart and a whole in one of her valves, after 2 months in the NICU we went home, we were back in the hospital 4 months later & Anna was on a ventilator for 4 weeks, she had bronchilitis. Then 2 years later she had open heart surgery and yet another intestinal surgery. Then after many pneumonia's I kept going back to the paediatrician and saying something isn't right, finally I took it upon myself to bring her to a pulmonologist, we were in his office for ten minutes and he said "I think she has CF". We had three sweat test done all in which were positive.

Sorry for some much typing this is actually the short version <img src="i/expressions/face-icon-small-smile.gif" border="0">.

Regards,
Lisa
Anna 4y/o w/CF

 

[lscharlat]

My daughter Anna was born with an intestinal blockage as well, she had a sweat test done in the NICU after her intestinal surgery, the sweat test came back negative and we were so relieved. Then they couldn't get her breathing under control and that's when they found the whole in her heart and a whole in one of her valves, after 2 months in the NICU we went home, we were back in the hospital 4 months later & Anna was on a ventilator for 4 weeks, she had bronchilitis. Then 2 years later she had open heart surgery and yet another intestinal surgery. Then after many pneumonia's I kept going back to the paediatrician and saying something isn't right, finally I took it upon myself to bring her to a pulmonologist, we were in his office for ten minutes and he said "I think she has CF". We had three sweat test done all in which were positive.

Sorry for some much typing this is actually the short version <img src="i/expressions/face-icon-small-smile.gif" border="0">.

Regards,
Lisa
Anna 4y/o w/CF

 

[loveee12]

i was born a healthy weight - 6lbs 8oz i think (though by far the smallest in my family), and there's no cf history in my family, but my mom's a pediatrician and she knew something was up. i could eat more than her as a tiny baby. one day we were outside in the sun she kissed my forehead and noticed how salty it was. she had me tested.

 

[loveee12]

i was born a healthy weight - 6lbs 8oz i think (though by far the smallest in my family), and there's no cf history in my family, but my mom's a pediatrician and she knew something was up. i could eat more than her as a tiny baby. one day we were outside in the sun she kissed my forehead and noticed how salty it was. she had me tested.

 

[loveee12]

i was born a healthy weight - 6lbs 8oz i think (though by far the smallest in my family), and there's no cf history in my family, but my mom's a pediatrician and she knew something was up. i could eat more than her as a tiny baby. one day we were outside in the sun she kissed my forehead and noticed how salty it was. she had me tested.

 

[ethansmomma]

I was diagnosed 5 years ago when I was 25 years old.... I, too, had been sick on and off my whole life, seems I ALWAYS had bronchitus and ALWAYS had a cough... I remember my mom telling me that when I was born that the doctors had to take me to the other hospital in town that had a nicu because I had pneumonia or something like that... Good Heavens you think I would have that story straight but I am such a space cadet!! Anyways, I have had 3 different sinus surgeries to remove polyps, nothing (obviously) helped. I finally switched to a new primary care doctor (thank goodness) who referred me to a DIFFERENT ENT Doctor. This doctor referred me to an allergist, who sent me to get a sweat test. When she mentioned to me that I may have "Cystic Fibrosis".....I didn't have any idea what that even was (I feel stupid admitting that). When the results came back, my numbers were very high and they referred me to the CF clinic. My CF Doctor at that time (they have since changed <img src="i/expressions/face-icon-small-sad.gif" border="0">) talked to me for a few minutes, asked me a few questions, looked at my fingers and said, Yes, you have CF. I cried like a baby. I finally had an answer. She then did the DNA test and it was confirmed. When I asked my Doctor how has it taken so long to be diagnosed?? She thought that maybe it was because everytime I went to the doctor for bronchitus, etc., that they NEVER once asked me about my stools, etc., and, well, why would they. I always always have had greasy, smelly stools (sorry TMI) and my sisters would always make fun of me because my stools looked different. I didn't know that was a problem, I guess...
Sorry that was so long. That's the story of how I was diagnosed! <img src="i/expressions/face-icon-small-smile.gif" border="0"> I am so happy to have found all of you!!!!!!


Robin 29F w/CF

 

[ethansmomma]

I was diagnosed 5 years ago when I was 25 years old.... I, too, had been sick on and off my whole life, seems I ALWAYS had bronchitus and ALWAYS had a cough... I remember my mom telling me that when I was born that the doctors had to take me to the other hospital in town that had a nicu because I had pneumonia or something like that... Good Heavens you think I would have that story straight but I am such a space cadet!! Anyways, I have had 3 different sinus surgeries to remove polyps, nothing (obviously) helped. I finally switched to a new primary care doctor (thank goodness) who referred me to a DIFFERENT ENT Doctor. This doctor referred me to an allergist, who sent me to get a sweat test. When she mentioned to me that I may have "Cystic Fibrosis".....I didn't have any idea what that even was (I feel stupid admitting that). When the results came back, my numbers were very high and they referred me to the CF clinic. My CF Doctor at that time (they have since changed <img src="i/expressions/face-icon-small-sad.gif" border="0">) talked to me for a few minutes, asked me a few questions, looked at my fingers and said, Yes, you have CF. I cried like a baby. I finally had an answer. She then did the DNA test and it was confirmed. When I asked my Doctor how has it taken so long to be diagnosed?? She thought that maybe it was because everytime I went to the doctor for bronchitus, etc., that they NEVER once asked me about my stools, etc., and, well, why would they. I always always have had greasy, smelly stools (sorry TMI) and my sisters would always make fun of me because my stools looked different. I didn't know that was a problem, I guess...
Sorry that was so long. That's the story of how I was diagnosed! <img src="i/expressions/face-icon-small-smile.gif" border="0"> I am so happy to have found all of you!!!!!!


Robin 29F w/CF

 

[ethansmomma]

I was diagnosed 5 years ago when I was 25 years old.... I, too, had been sick on and off my whole life, seems I ALWAYS had bronchitus and ALWAYS had a cough... I remember my mom telling me that when I was born that the doctors had to take me to the other hospital in town that had a nicu because I had pneumonia or something like that... Good Heavens you think I would have that story straight but I am such a space cadet!! Anyways, I have had 3 different sinus surgeries to remove polyps, nothing (obviously) helped. I finally switched to a new primary care doctor (thank goodness) who referred me to a DIFFERENT ENT Doctor. This doctor referred me to an allergist, who sent me to get a sweat test. When she mentioned to me that I may have "Cystic Fibrosis".....I didn't have any idea what that even was (I feel stupid admitting that). When the results came back, my numbers were very high and they referred me to the CF clinic. My CF Doctor at that time (they have since changed <img src="i/expressions/face-icon-small-sad.gif" border="0">) talked to me for a few minutes, asked me a few questions, looked at my fingers and said, Yes, you have CF. I cried like a baby. I finally had an answer. She then did the DNA test and it was confirmed. When I asked my Doctor how has it taken so long to be diagnosed?? She thought that maybe it was because everytime I went to the doctor for bronchitus, etc., that they NEVER once asked me about my stools, etc., and, well, why would they. I always always have had greasy, smelly stools (sorry TMI) and my sisters would always make fun of me because my stools looked different. I didn't know that was a problem, I guess...
Sorry that was so long. That's the story of how I was diagnosed! <img src="i/expressions/face-icon-small-smile.gif" border="0"> I am so happy to have found all of you!!!!!!


Robin 29F w/CF

 

[mom2lillian]

horrid stomach problems as a young child trhough middle school, then middle school bad 'asthma' and complications set in and was sweat tested 5 times, all borderline. High school very ill but no dx. Went to college and mid way through 2nd year I could barely get up to my 4th floor appt. Left school to be closer to real docs as campus clinic was at a loss. Fired family doc that was clueless then went on to new reg doc, allergist, immunologist, pulmonologist, and finally CF doc. Dx @ 21 yo, that was 6 years ago.

 

[mom2lillian]

horrid stomach problems as a young child trhough middle school, then middle school bad 'asthma' and complications set in and was sweat tested 5 times, all borderline. High school very ill but no dx. Went to college and mid way through 2nd year I could barely get up to my 4th floor appt. Left school to be closer to real docs as campus clinic was at a loss. Fired family doc that was clueless then went on to new reg doc, allergist, immunologist, pulmonologist, and finally CF doc. Dx @ 21 yo, that was 6 years ago.

 

[mom2lillian]

horrid stomach problems as a young child trhough middle school, then middle school bad 'asthma' and complications set in and was sweat tested 5 times, all borderline. High school very ill but no dx. Went to college and mid way through 2nd year I could barely get up to my 4th floor appt. Left school to be closer to real docs as campus clinic was at a loss. Fired family doc that was clueless then went on to new reg doc, allergist, immunologist, pulmonologist, and finally CF doc. Dx @ 21 yo, that was 6 years ago.

 

[wanderlust]

My 32 year old husband was just diagnosed last month with two CF mutations. We only found out after struggling with infertility and finding out he has azoospermia. His mutations are DF508 and 5T - apparently, the second one is very mild and that's why so far, we only know his CF to have resulted in CBAVD. He does have digestive issues (which were diagnosed as IBS), and I'm insisting that he see a doctor experienced in CF to make sure that they're not CF-related.

Right now, we're in the process of dealing with insurance companies to see if I can get genetic sequencing to see if I'm a carrier. Hopefully, IVF is in our future in the next couple years.

 

[wanderlust]

My 32 year old husband was just diagnosed last month with two CF mutations. We only found out after struggling with infertility and finding out he has azoospermia. His mutations are DF508 and 5T - apparently, the second one is very mild and that's why so far, we only know his CF to have resulted in CBAVD. He does have digestive issues (which were diagnosed as IBS), and I'm insisting that he see a doctor experienced in CF to make sure that they're not CF-related.

Right now, we're in the process of dealing with insurance companies to see if I can get genetic sequencing to see if I'm a carrier. Hopefully, IVF is in our future in the next couple years.

 

[wanderlust]

My 32 year old husband was just diagnosed last month with two CF mutations. We only found out after struggling with infertility and finding out he has azoospermia. His mutations are DF508 and 5T - apparently, the second one is very mild and that's why so far, we only know his CF to have resulted in CBAVD. He does have digestive issues (which were diagnosed as IBS), and I'm insisting that he see a doctor experienced in CF to make sure that they're not CF-related.

Right now, we're in the process of dealing with insurance companies to see if I can get genetic sequencing to see if I'm a carrier. Hopefully, IVF is in our future in the next couple years.