diagnosis story

[Breezy]

Hmm well this will be a first since I do not have CF but i have bronchiectasis so i will tell you all how i got dx with it! YAY!

I remember i started feeling shoddy in an assembly in September when i was 17. Thought i had the flu....it went away in a week....then i got sick again. I felt it go to my chest...i started getting congested....but the congestion happened really gradually that i didn't notice it. I developed a wet cough. I started having trouble breathing, walking small distances became extremely difficult. Everytime i went to Sick Kids for my Gamma (b/c i was born with no immune system, a disease called ADA SCID - i was getting my transfusion) and the nurse mentioned i still sounded congested. But i had sounded that way for so long i guess it wasn't overly worrying. I felt like crap. They put my on antibiotics and i got better. Same story for the next 3 months. Antibiotic after antibiotic. They just didn't work anymore...

Feb 2003 i went downhill fast. I was on antibiotics and just gotten off them when a couple of days after finishing i got sick again. I had my regular appt on a Tuesday for some reason. That morning i remember stepping out of the bathtub and i had to sit b/c i got so out of breathe....long story short, at my appt they hospitalized me and it took them EONS to figure out what i had. I got tested for CF and it came back negative. When they said i had to take a 'sweat test' i started crying. I thought a 'sweat test' meant putting me on a tread mill and making me run until i began to sweat. I'm not lying. I figured how could i run on a treadmill when i couldn't even walk to the washroom in my hospital room...?

Not only that but i had lost 10lbs that week. I was so cold all the time and i shook a lot. Sitting for long periods of time hurt b/c my bones jabbed into my skin. I think no one really noticed b/c it happened so slowly, it just became normal for me to feel so crappy. But that last week when i got really bad ppl noticed...

And now here i am and i've been out of the hospital for 4 years exactly! I have not been on antibiotics in 3 years! YAY!

Sorry this is so long!!!

 

[Breezy]

Hmm well this will be a first since I do not have CF but i have bronchiectasis so i will tell you all how i got dx with it! YAY!

I remember i started feeling shoddy in an assembly in September when i was 17. Thought i had the flu....it went away in a week....then i got sick again. I felt it go to my chest...i started getting congested....but the congestion happened really gradually that i didn't notice it. I developed a wet cough. I started having trouble breathing, walking small distances became extremely difficult. Everytime i went to Sick Kids for my Gamma (b/c i was born with no immune system, a disease called ADA SCID - i was getting my transfusion) and the nurse mentioned i still sounded congested. But i had sounded that way for so long i guess it wasn't overly worrying. I felt like crap. They put my on antibiotics and i got better. Same story for the next 3 months. Antibiotic after antibiotic. They just didn't work anymore...

Feb 2003 i went downhill fast. I was on antibiotics and just gotten off them when a couple of days after finishing i got sick again. I had my regular appt on a Tuesday for some reason. That morning i remember stepping out of the bathtub and i had to sit b/c i got so out of breathe....long story short, at my appt they hospitalized me and it took them EONS to figure out what i had. I got tested for CF and it came back negative. When they said i had to take a 'sweat test' i started crying. I thought a 'sweat test' meant putting me on a tread mill and making me run until i began to sweat. I'm not lying. I figured how could i run on a treadmill when i couldn't even walk to the washroom in my hospital room...?

Not only that but i had lost 10lbs that week. I was so cold all the time and i shook a lot. Sitting for long periods of time hurt b/c my bones jabbed into my skin. I think no one really noticed b/c it happened so slowly, it just became normal for me to feel so crappy. But that last week when i got really bad ppl noticed...

And now here i am and i've been out of the hospital for 4 years exactly! I have not been on antibiotics in 3 years! YAY!

Sorry this is so long!!!

 

[Breezy]

Hmm well this will be a first since I do not have CF but i have bronchiectasis so i will tell you all how i got dx with it! YAY!

I remember i started feeling shoddy in an assembly in September when i was 17. Thought i had the flu....it went away in a week....then i got sick again. I felt it go to my chest...i started getting congested....but the congestion happened really gradually that i didn't notice it. I developed a wet cough. I started having trouble breathing, walking small distances became extremely difficult. Everytime i went to Sick Kids for my Gamma (b/c i was born with no immune system, a disease called ADA SCID - i was getting my transfusion) and the nurse mentioned i still sounded congested. But i had sounded that way for so long i guess it wasn't overly worrying. I felt like crap. They put my on antibiotics and i got better. Same story for the next 3 months. Antibiotic after antibiotic. They just didn't work anymore...

Feb 2003 i went downhill fast. I was on antibiotics and just gotten off them when a couple of days after finishing i got sick again. I had my regular appt on a Tuesday for some reason. That morning i remember stepping out of the bathtub and i had to sit b/c i got so out of breathe....long story short, at my appt they hospitalized me and it took them EONS to figure out what i had. I got tested for CF and it came back negative. When they said i had to take a 'sweat test' i started crying. I thought a 'sweat test' meant putting me on a tread mill and making me run until i began to sweat. I'm not lying. I figured how could i run on a treadmill when i couldn't even walk to the washroom in my hospital room...?

Not only that but i had lost 10lbs that week. I was so cold all the time and i shook a lot. Sitting for long periods of time hurt b/c my bones jabbed into my skin. I think no one really noticed b/c it happened so slowly, it just became normal for me to feel so crappy. But that last week when i got really bad ppl noticed...

And now here i am and i've been out of the hospital for 4 years exactly! I have not been on antibiotics in 3 years! YAY!

Sorry this is so long!!!

 

[Samsmom]

When my daughter was born at a very average 7lbs 11ozs all seemed well except she lost a bit of weight- she weighed 6lbs 13ozs at 2 days. I knew at about 3 months that there was a problem because she cried with every BM and ate non-stop. Peds. thought I was just a nervous first time mom. Steadily she failed to grow and dropped out of the growth chart. By the time she started school the teachers were all asking why she was so small and by the way she had mental health issues (behavior problems). We started a journey that has taken us to so many docs. I won't list. She was finally diagnosed by her endocronologist as growth hormone deficient, but after 2 years of hormone injections she was smaller than ever. He sent her to a ped. GI for failure to grow. He looked at her medical history from birth and noticed that she always had a cough when we would take her to the ped. for any illness, had pneumo. several times, bronchitis, uri, etc. He said he thought it could be cf, we had a sweat test that was positive, saw the pulmo. docs, had genetic testing and finally a diagnosis. Now we have a 13 year old who was diagnosed almost a year ago and she only weights 54lbs. There was no family history of cf on either side so it was quite a shock but we are adjusting.

 

[Samsmom]

When my daughter was born at a very average 7lbs 11ozs all seemed well except she lost a bit of weight- she weighed 6lbs 13ozs at 2 days. I knew at about 3 months that there was a problem because she cried with every BM and ate non-stop. Peds. thought I was just a nervous first time mom. Steadily she failed to grow and dropped out of the growth chart. By the time she started school the teachers were all asking why she was so small and by the way she had mental health issues (behavior problems). We started a journey that has taken us to so many docs. I won't list. She was finally diagnosed by her endocronologist as growth hormone deficient, but after 2 years of hormone injections she was smaller than ever. He sent her to a ped. GI for failure to grow. He looked at her medical history from birth and noticed that she always had a cough when we would take her to the ped. for any illness, had pneumo. several times, bronchitis, uri, etc. He said he thought it could be cf, we had a sweat test that was positive, saw the pulmo. docs, had genetic testing and finally a diagnosis. Now we have a 13 year old who was diagnosed almost a year ago and she only weights 54lbs. There was no family history of cf on either side so it was quite a shock but we are adjusting.

 

[Samsmom]

When my daughter was born at a very average 7lbs 11ozs all seemed well except she lost a bit of weight- she weighed 6lbs 13ozs at 2 days. I knew at about 3 months that there was a problem because she cried with every BM and ate non-stop. Peds. thought I was just a nervous first time mom. Steadily she failed to grow and dropped out of the growth chart. By the time she started school the teachers were all asking why she was so small and by the way she had mental health issues (behavior problems). We started a journey that has taken us to so many docs. I won't list. She was finally diagnosed by her endocronologist as growth hormone deficient, but after 2 years of hormone injections she was smaller than ever. He sent her to a ped. GI for failure to grow. He looked at her medical history from birth and noticed that she always had a cough when we would take her to the ped. for any illness, had pneumo. several times, bronchitis, uri, etc. He said he thought it could be cf, we had a sweat test that was positive, saw the pulmo. docs, had genetic testing and finally a diagnosis. Now we have a 13 year old who was diagnosed almost a year ago and she only weights 54lbs. There was no family history of cf on either side so it was quite a shock but we are adjusting.

 

[Justsmurfin]

I wasnt diagnosed until age 16 but have had symptoms all my life

As a baby I had a ton of mucus and had stomach issues etc. The doctors kept brushing my mom off and I had several other health issues that were the main focus then. Anyway I always small (10%-20% on the growth charts). I always had issues with heat and got dehydrated easily. I was diagnosed with severe food allergies as a young child and the stomach problems were blamed on that and reflux. I also had constant sinus issues which were blamed on allergies as well

Around age 8 my symptoms increased dramatically. Often when I would get up in the morning I would cough and choke up mucus for atleast an hour...often times leading to throwing up. I had constant stomachaches and bad sinus infections. Once again my parents took me to several doctors and heard everything from she's faking to reflux to allergies to she just needs to go to school. I would have the same coughing fits when I was jumping on the trampoline, I would wake up in the middle of the night coughing until I threw up

As the years went on this started happening most mornings. Once again blamed on allergies, post nasal drip, reflux. One doctor kept insisting I was faking it It seemed like I was constantly on antibiotics for sinus infections and just had NO energy, I would come home from school and go to bed.

Anyway diagnosed with asthma. Went to an allergy/asthma doc and told I had awful sinuses but still no concrete answers. At this point my health problems were so bad that I couldn't go to school....the awful coughing fits happened most mornings and throughout the day. No energy at all etc. Digestive issues blamed on IBS and reflux.

Finally after spending more time in the hospital than at home and being on long term prednisone for brittle asthma some doctor decided to test for CF along with a bunch of other things. Sweat test was positive, DNA test showed 1 DF508. Referred to CF clinic...once again sweat test was positive. This was pre ambry . or right when ambry had come out so I was only tested for like 70 something mutations through genzyme (maybe 90?) I was diagnosed based on the sweat tests, clinical symptoms and the dna testing showing 1 DF508...figuring I had a rare 2nd mutation.

Thats my story. I know I left out some details but was trying to keep it short

 

[Justsmurfin]

I wasnt diagnosed until age 16 but have had symptoms all my life

As a baby I had a ton of mucus and had stomach issues etc. The doctors kept brushing my mom off and I had several other health issues that were the main focus then. Anyway I always small (10%-20% on the growth charts). I always had issues with heat and got dehydrated easily. I was diagnosed with severe food allergies as a young child and the stomach problems were blamed on that and reflux. I also had constant sinus issues which were blamed on allergies as well

Around age 8 my symptoms increased dramatically. Often when I would get up in the morning I would cough and choke up mucus for atleast an hour...often times leading to throwing up. I had constant stomachaches and bad sinus infections. Once again my parents took me to several doctors and heard everything from she's faking to reflux to allergies to she just needs to go to school. I would have the same coughing fits when I was jumping on the trampoline, I would wake up in the middle of the night coughing until I threw up

As the years went on this started happening most mornings. Once again blamed on allergies, post nasal drip, reflux. One doctor kept insisting I was faking it It seemed like I was constantly on antibiotics for sinus infections and just had NO energy, I would come home from school and go to bed.

Anyway diagnosed with asthma. Went to an allergy/asthma doc and told I had awful sinuses but still no concrete answers. At this point my health problems were so bad that I couldn't go to school....the awful coughing fits happened most mornings and throughout the day. No energy at all etc. Digestive issues blamed on IBS and reflux.

Finally after spending more time in the hospital than at home and being on long term prednisone for brittle asthma some doctor decided to test for CF along with a bunch of other things. Sweat test was positive, DNA test showed 1 DF508. Referred to CF clinic...once again sweat test was positive. This was pre ambry . or right when ambry had come out so I was only tested for like 70 something mutations through genzyme (maybe 90?) I was diagnosed based on the sweat tests, clinical symptoms and the dna testing showing 1 DF508...figuring I had a rare 2nd mutation.

Thats my story. I know I left out some details but was trying to keep it short

 

[Justsmurfin]

I wasnt diagnosed until age 16 but have had symptoms all my life

As a baby I had a ton of mucus and had stomach issues etc. The doctors kept brushing my mom off and I had several other health issues that were the main focus then. Anyway I always small (10%-20% on the growth charts). I always had issues with heat and got dehydrated easily. I was diagnosed with severe food allergies as a young child and the stomach problems were blamed on that and reflux. I also had constant sinus issues which were blamed on allergies as well

Around age 8 my symptoms increased dramatically. Often when I would get up in the morning I would cough and choke up mucus for atleast an hour...often times leading to throwing up. I had constant stomachaches and bad sinus infections. Once again my parents took me to several doctors and heard everything from she's faking to reflux to allergies to she just needs to go to school. I would have the same coughing fits when I was jumping on the trampoline, I would wake up in the middle of the night coughing until I threw up

As the years went on this started happening most mornings. Once again blamed on allergies, post nasal drip, reflux. One doctor kept insisting I was faking it It seemed like I was constantly on antibiotics for sinus infections and just had NO energy, I would come home from school and go to bed.

Anyway diagnosed with asthma. Went to an allergy/asthma doc and told I had awful sinuses but still no concrete answers. At this point my health problems were so bad that I couldn't go to school....the awful coughing fits happened most mornings and throughout the day. No energy at all etc. Digestive issues blamed on IBS and reflux.

Finally after spending more time in the hospital than at home and being on long term prednisone for brittle asthma some doctor decided to test for CF along with a bunch of other things. Sweat test was positive, DNA test showed 1 DF508. Referred to CF clinic...once again sweat test was positive. This was pre ambry . or right when ambry had come out so I was only tested for like 70 something mutations through genzyme (maybe 90?) I was diagnosed based on the sweat tests, clinical symptoms and the dna testing showing 1 DF508...figuring I had a rare 2nd mutation.

Thats my story. I know I left out some details but was trying to keep it short

 

[MCGrad2006]

I was listed as failure to thrive at 6 months old. They brought me to the local (crap shoot) of a hospital and did a sweat test there. It came back positive, but the lil local hospitals have a high positive rate, so they did another two in Boston. Put me in the hospital on enzymes and thats that. I was only 12 pounds at 6 months....someday I will post the pics of before enzymes and after enzymes. You can totally tell the difference, its quite funny...I got chubby with enzymes!

Ironically though, my newborn cousin was rushed to the same hospital with a heart defect. One of us came from south of Boston and one from north of Boston. We have been best buds ever since. I like to think that all of that happened for a reason!

 

[MCGrad2006]

I was listed as failure to thrive at 6 months old. They brought me to the local (crap shoot) of a hospital and did a sweat test there. It came back positive, but the lil local hospitals have a high positive rate, so they did another two in Boston. Put me in the hospital on enzymes and thats that. I was only 12 pounds at 6 months....someday I will post the pics of before enzymes and after enzymes. You can totally tell the difference, its quite funny...I got chubby with enzymes!

Ironically though, my newborn cousin was rushed to the same hospital with a heart defect. One of us came from south of Boston and one from north of Boston. We have been best buds ever since. I like to think that all of that happened for a reason!

 

[MCGrad2006]

I was listed as failure to thrive at 6 months old. They brought me to the local (crap shoot) of a hospital and did a sweat test there. It came back positive, but the lil local hospitals have a high positive rate, so they did another two in Boston. Put me in the hospital on enzymes and thats that. I was only 12 pounds at 6 months....someday I will post the pics of before enzymes and after enzymes. You can totally tell the difference, its quite funny...I got chubby with enzymes!

Ironically though, my newborn cousin was rushed to the same hospital with a heart defect. One of us came from south of Boston and one from north of Boston. We have been best buds ever since. I like to think that all of that happened for a reason!

 

[thefrogprincess]

Nothing to special about my diagnosis. My older brother had already been diagnosed by the time I cam along so I was tested right away. He had a merconium illeus that ruptured his intestine in utero and had some rediculous number of hours of surgery by the time he was a day old. The cool thing about my diagnosis however was that since my mom was preggers with me when my brother was diagnosed, there was a doctor trying to diagnose babies through amnio. It didn't work, but the CF gene hadn't been identified yet. But I was a pioneer in CF diagnosis when I wasn't even born yet!

 

[thefrogprincess]

Nothing to special about my diagnosis. My older brother had already been diagnosed by the time I cam along so I was tested right away. He had a merconium illeus that ruptured his intestine in utero and had some rediculous number of hours of surgery by the time he was a day old. The cool thing about my diagnosis however was that since my mom was preggers with me when my brother was diagnosed, there was a doctor trying to diagnose babies through amnio. It didn't work, but the CF gene hadn't been identified yet. But I was a pioneer in CF diagnosis when I wasn't even born yet!

 

[thefrogprincess]

Nothing to special about my diagnosis. My older brother had already been diagnosed by the time I cam along so I was tested right away. He had a merconium illeus that ruptured his intestine in utero and had some rediculous number of hours of surgery by the time he was a day old. The cool thing about my diagnosis however was that since my mom was preggers with me when my brother was diagnosed, there was a doctor trying to diagnose babies through amnio. It didn't work, but the CF gene hadn't been identified yet. But I was a pioneer in CF diagnosis when I wasn't even born yet!

 

[PepperKitty]

I'll try to make a long story short. I wasn't diagnosed until age 12 because CF runs in my family. I was my mother's healthest child (6 kids) until age 2 when my nose started running & would not stop. I was a thin child, but so were by siblings. As long as I can remember I have had terrible intestine pain. When I was little I would run around in circles with pain before each BM. My BM's were always big & floaty. I thought something was wrong with my brother because his BM's looked different then mine! A doctor preformed non-exsistant hernia surgery when I was 9 years. I developed bronchitis every winter & had a constant cough (my sister said she thought I would die in my sleep from coughing so hard). I didn't know many of the "CF signs" were not "normal" & never told anyone. As a kid I would lick the salt of my legs because it tasted so good (kids can be so gross). I missed a year of school by 4th grade. Both teachers & doctors said I was "faking". Gratefully my mom knew I wasn't "faking" because she could "see pain in my eyes". Anyway the doctors did suggest that I be tested for CF, but my parents ignored it. My mother had 3 sisters die of CF in the 40's & 50's. The longest sister had only live until 2 1/2 years old. My Grandma, who I only saw every two years, had a good heart, but discouraged my parents from testing me. She thought I couldn't possible have CF because I'd already lived past 2 1/2 years. My parents were also told that "CF skips a generation". I think both my parents were in denial because I had every classic sign of CF. They didn't want me to have it! Finally at age 12 I remember the doctor telling my mother that I should be tested for CF while he was walking from the room. She said "well her BM's do float". He whirled around and picked up the phone to order the test. I have never seen another doctor move so fast. I was diagnosed the next day with a sweat test of 12+. Double Delta F508.
My parents thought they knew a lot about CF, but the information was 40 years old!
It has been determined that my brother, born 14 years earlier was also undiagnosed CF. He died at 1 day old from a perforated intestine.
I still had a happy and secure childhood even tho I wasn't diagnosed.


Faith 33 w/CF

 

[PepperKitty]

I'll try to make a long story short. I wasn't diagnosed until age 12 because CF runs in my family. I was my mother's healthest child (6 kids) until age 2 when my nose started running & would not stop. I was a thin child, but so were by siblings. As long as I can remember I have had terrible intestine pain. When I was little I would run around in circles with pain before each BM. My BM's were always big & floaty. I thought something was wrong with my brother because his BM's looked different then mine! A doctor preformed non-exsistant hernia surgery when I was 9 years. I developed bronchitis every winter & had a constant cough (my sister said she thought I would die in my sleep from coughing so hard). I didn't know many of the "CF signs" were not "normal" & never told anyone. As a kid I would lick the salt of my legs because it tasted so good (kids can be so gross). I missed a year of school by 4th grade. Both teachers & doctors said I was "faking". Gratefully my mom knew I wasn't "faking" because she could "see pain in my eyes". Anyway the doctors did suggest that I be tested for CF, but my parents ignored it. My mother had 3 sisters die of CF in the 40's & 50's. The longest sister had only live until 2 1/2 years old. My Grandma, who I only saw every two years, had a good heart, but discouraged my parents from testing me. She thought I couldn't possible have CF because I'd already lived past 2 1/2 years. My parents were also told that "CF skips a generation". I think both my parents were in denial because I had every classic sign of CF. They didn't want me to have it! Finally at age 12 I remember the doctor telling my mother that I should be tested for CF while he was walking from the room. She said "well her BM's do float". He whirled around and picked up the phone to order the test. I have never seen another doctor move so fast. I was diagnosed the next day with a sweat test of 12+. Double Delta F508.
My parents thought they knew a lot about CF, but the information was 40 years old!
It has been determined that my brother, born 14 years earlier was also undiagnosed CF. He died at 1 day old from a perforated intestine.
I still had a happy and secure childhood even tho I wasn't diagnosed.


Faith 33 w/CF

 

[PepperKitty]

I'll try to make a long story short. I wasn't diagnosed until age 12 because CF runs in my family. I was my mother's healthest child (6 kids) until age 2 when my nose started running & would not stop. I was a thin child, but so were by siblings. As long as I can remember I have had terrible intestine pain. When I was little I would run around in circles with pain before each BM. My BM's were always big & floaty. I thought something was wrong with my brother because his BM's looked different then mine! A doctor preformed non-exsistant hernia surgery when I was 9 years. I developed bronchitis every winter & had a constant cough (my sister said she thought I would die in my sleep from coughing so hard). I didn't know many of the "CF signs" were not "normal" & never told anyone. As a kid I would lick the salt of my legs because it tasted so good (kids can be so gross). I missed a year of school by 4th grade. Both teachers & doctors said I was "faking". Gratefully my mom knew I wasn't "faking" because she could "see pain in my eyes". Anyway the doctors did suggest that I be tested for CF, but my parents ignored it. My mother had 3 sisters die of CF in the 40's & 50's. The longest sister had only live until 2 1/2 years old. My Grandma, who I only saw every two years, had a good heart, but discouraged my parents from testing me. She thought I couldn't possible have CF because I'd already lived past 2 1/2 years. My parents were also told that "CF skips a generation". I think both my parents were in denial because I had every classic sign of CF. They didn't want me to have it! Finally at age 12 I remember the doctor telling my mother that I should be tested for CF while he was walking from the room. She said "well her BM's do float". He whirled around and picked up the phone to order the test. I have never seen another doctor move so fast. I was diagnosed the next day with a sweat test of 12+. Double Delta F508.
My parents thought they knew a lot about CF, but the information was 40 years old!
It has been determined that my brother, born 14 years earlier was also undiagnosed CF. He died at 1 day old from a perforated intestine.
I still had a happy and secure childhood even tho I wasn't diagnosed.


Faith 33 w/CF

 

[sarabeth87]

I was diagnosed at 18 months old after my little brother was born. I wasn't really sick, but my brother was not gaining weight and they said he had "failure to thrive" They tested him for a lot of things and finally decided to test for CF (which my family hadn't even heard of). They also wanted to test me to be on the safe side. Of course we both had CF and the rest is history.

 

[sarabeth87]

I was diagnosed at 18 months old after my little brother was born. I wasn't really sick, but my brother was not gaining weight and they said he had "failure to thrive" They tested him for a lot of things and finally decided to test for CF (which my family hadn't even heard of). They also wanted to test me to be on the safe side. Of course we both had CF and the rest is history.