Agreed, we all understand your fear. I was angry when the head of the local nicu dropped the CF bomb in casual converstion when they were trying to figure out why our newborn was projectile vomiting -- to scare us unecessarily like that, especially with no family history. It's a shock, we felt blindsided; however, I've also seen a child in her teens go undiagnosed and others diagnosed later in life who are completely different children leading active, normal lives.
You are using an out of date browser. It may not display this or other websites correctly.
You should upgrade or use an alternative browser.
You should upgrade or use an alternative browser.
Scared to get son tested
- Thread starter anitapia
- Start date
C
Cherylwithone
Guest
Get him tested. At least the first doctor had her concerns and was willing to check it out.
You can not always compare yourself and your husband to your kids. I stand 5ft was always small and never gave it a second thought on my daughtr being big. What a doctor looks at is the growth and weight chart and if the line in just going straight across and not climbing at all, you have a problem.
Please give the first doctor the benefit of the doubt and have him tested. You have nothing to lose but everything to gain.
Good luck
You can not always compare yourself and your husband to your kids. I stand 5ft was always small and never gave it a second thought on my daughtr being big. What a doctor looks at is the growth and weight chart and if the line in just going straight across and not climbing at all, you have a problem.
Please give the first doctor the benefit of the doubt and have him tested. You have nothing to lose but everything to gain.
Good luck
C
Cherylwithone
Guest
Get him tested. At least the first doctor had her concerns and was willing to check it out.
You can not always compare yourself and your husband to your kids. I stand 5ft was always small and never gave it a second thought on my daughtr being big. What a doctor looks at is the growth and weight chart and if the line in just going straight across and not climbing at all, you have a problem.
Please give the first doctor the benefit of the doubt and have him tested. You have nothing to lose but everything to gain.
Good luck
You can not always compare yourself and your husband to your kids. I stand 5ft was always small and never gave it a second thought on my daughtr being big. What a doctor looks at is the growth and weight chart and if the line in just going straight across and not climbing at all, you have a problem.
Please give the first doctor the benefit of the doubt and have him tested. You have nothing to lose but everything to gain.
Good luck
C
Cherylwithone
Guest
Get him tested. At least the first doctor had her concerns and was willing to check it out.
<br />
<br />You can not always compare yourself and your husband to your kids. I stand 5ft was always small and never gave it a second thought on my daughtr being big. What a doctor looks at is the growth and weight chart and if the line in just going straight across and not climbing at all, you have a problem.
<br />
<br />Please give the first doctor the benefit of the doubt and have him tested. You have nothing to lose but everything to gain.
<br />
<br />Good luck
<br />
<br />You can not always compare yourself and your husband to your kids. I stand 5ft was always small and never gave it a second thought on my daughtr being big. What a doctor looks at is the growth and weight chart and if the line in just going straight across and not climbing at all, you have a problem.
<br />
<br />Please give the first doctor the benefit of the doubt and have him tested. You have nothing to lose but everything to gain.
<br />
<br />Good luck
You mentioned that he was tested as a newborn and tested negative. Do you happen to know what type of test was used? If it was a simple sweat test, those are notoriously inaccurate in newborns, and you should try again. If however he was subjected to a blood screening or a genetic analysis, odds are the test was correct.
Either way, there's no harm in retesting. The benefits of getting a CF child on pancreatic enzymes alone make diagnosis a really big deal. My child is only 2 but is in the top percentiles in height and weight thanks to a CF-appropriate diet and these enzymes. Especially if you are both short people, not having enzymes could stunt your son's growth so he is significantly smaller than the norm and even smaller than the two of you.
Just get the test.
Pete (sympathizes with your fears)
Either way, there's no harm in retesting. The benefits of getting a CF child on pancreatic enzymes alone make diagnosis a really big deal. My child is only 2 but is in the top percentiles in height and weight thanks to a CF-appropriate diet and these enzymes. Especially if you are both short people, not having enzymes could stunt your son's growth so he is significantly smaller than the norm and even smaller than the two of you.
Just get the test.
Pete (sympathizes with your fears)
You mentioned that he was tested as a newborn and tested negative. Do you happen to know what type of test was used? If it was a simple sweat test, those are notoriously inaccurate in newborns, and you should try again. If however he was subjected to a blood screening or a genetic analysis, odds are the test was correct.
Either way, there's no harm in retesting. The benefits of getting a CF child on pancreatic enzymes alone make diagnosis a really big deal. My child is only 2 but is in the top percentiles in height and weight thanks to a CF-appropriate diet and these enzymes. Especially if you are both short people, not having enzymes could stunt your son's growth so he is significantly smaller than the norm and even smaller than the two of you.
Just get the test.
Pete (sympathizes with your fears)
Either way, there's no harm in retesting. The benefits of getting a CF child on pancreatic enzymes alone make diagnosis a really big deal. My child is only 2 but is in the top percentiles in height and weight thanks to a CF-appropriate diet and these enzymes. Especially if you are both short people, not having enzymes could stunt your son's growth so he is significantly smaller than the norm and even smaller than the two of you.
Just get the test.
Pete (sympathizes with your fears)
You mentioned that he was tested as a newborn and tested negative. Do you happen to know what type of test was used? If it was a simple sweat test, those are notoriously inaccurate in newborns, and you should try again. If however he was subjected to a blood screening or a genetic analysis, odds are the test was correct.
<br />
<br />Either way, there's no harm in retesting. The benefits of getting a CF child on pancreatic enzymes alone make diagnosis a really big deal. My child is only 2 but is in the top percentiles in height and weight thanks to a CF-appropriate diet and these enzymes. Especially if you are both short people, not having enzymes could stunt your son's growth so he is significantly smaller than the norm and even smaller than the two of you.
<br />
<br />Just get the test.
<br />
<br />Pete (sympathizes with your fears)
<br />
<br />Either way, there's no harm in retesting. The benefits of getting a CF child on pancreatic enzymes alone make diagnosis a really big deal. My child is only 2 but is in the top percentiles in height and weight thanks to a CF-appropriate diet and these enzymes. Especially if you are both short people, not having enzymes could stunt your son's growth so he is significantly smaller than the norm and even smaller than the two of you.
<br />
<br />Just get the test.
<br />
<br />Pete (sympathizes with your fears)
I totally understand what you are going through. My daughter is 4 and wasn't diagnosed until she was almost 3. She has always been small but always gained weight and stayed on her growth curve. When I mentioned seeing oil in her poop a few times to her ped, she mentioned CF and celiac. I was shocked! I read all about CF and told myself there was no possible way she could have it. She had no lung problems and was so healthy! I scheduled the sweat test and then actually canceled it because I I knew she didn't have it. Instead we tested her fecal fat % and it was REALLY high. Her sweat test was very high as well. A year and a half later I am so glad I listened to my wonderful ped. I used to have to watch so carefully what she ate so she wouldn't have to poop 6 times a day. Now she can eat whatever she wants! It is such a relief! She still doesn't have any pulmonary problems but we take measures to keep it that way! I think not knowing is worse than dealing with it, especially for CF. Good luck.
I totally understand what you are going through. My daughter is 4 and wasn't diagnosed until she was almost 3. She has always been small but always gained weight and stayed on her growth curve. When I mentioned seeing oil in her poop a few times to her ped, she mentioned CF and celiac. I was shocked! I read all about CF and told myself there was no possible way she could have it. She had no lung problems and was so healthy! I scheduled the sweat test and then actually canceled it because I I knew she didn't have it. Instead we tested her fecal fat % and it was REALLY high. Her sweat test was very high as well. A year and a half later I am so glad I listened to my wonderful ped. I used to have to watch so carefully what she ate so she wouldn't have to poop 6 times a day. Now she can eat whatever she wants! It is such a relief! She still doesn't have any pulmonary problems but we take measures to keep it that way! I think not knowing is worse than dealing with it, especially for CF. Good luck.
I totally understand what you are going through. My daughter is 4 and wasn't diagnosed until she was almost 3. She has always been small but always gained weight and stayed on her growth curve. When I mentioned seeing oil in her poop a few times to her ped, she mentioned CF and celiac. I was shocked! I read all about CF and told myself there was no possible way she could have it. She had no lung problems and was so healthy! I scheduled the sweat test and then actually canceled it because I I knew she didn't have it. Instead we tested her fecal fat % and it was REALLY high. Her sweat test was very high as well. A year and a half later I am so glad I listened to my wonderful ped. I used to have to watch so carefully what she ate so she wouldn't have to poop 6 times a day. Now she can eat whatever she wants! It is such a relief! She still doesn't have any pulmonary problems but we take measures to keep it that way! I think not knowing is worse than dealing with it, especially for CF. Good luck.
Re. the CF test that was done initially that turned up negative:
I missed your mention that your child had a normal NBS for CF. As recently as 6yrs ago many states were not even screening for CF yet! My state was one of the last to mandate it and this only occurred in the last year. However, a newborn screen is just that- a screen, and is not diagnostic. Especially 6 years ago, it likely did not include any genetic testing but was rather more likely to only be a test of IRT levels. The majority of babies with elevated IRT levels do not have CF and some that do have it will not present with elevated IRT (and therefore don't get further testing if asymptomatic at that time) so some will be missed. We see this happen quite often here on this website; children who fall through the cracks of this system and often go quite a long time before diagnosis. It's very, very fortunate when a dr is observant and proactive enough to pursue testing~ CF is often NOT on their radar and contributes to dx coming very late and after damage is already done.
In my daughter's case she was not dx'ed until age 7, and this was very much to her detriment. She lost a lot of ground compared to where her health was as a toddler/preschooler. She was in growth failure by the time she was dx'ed and had started experiencing more frequent respiratory infections that would have benefited so much by appropriate, aggressive management.
I missed your mention that your child had a normal NBS for CF. As recently as 6yrs ago many states were not even screening for CF yet! My state was one of the last to mandate it and this only occurred in the last year. However, a newborn screen is just that- a screen, and is not diagnostic. Especially 6 years ago, it likely did not include any genetic testing but was rather more likely to only be a test of IRT levels. The majority of babies with elevated IRT levels do not have CF and some that do have it will not present with elevated IRT (and therefore don't get further testing if asymptomatic at that time) so some will be missed. We see this happen quite often here on this website; children who fall through the cracks of this system and often go quite a long time before diagnosis. It's very, very fortunate when a dr is observant and proactive enough to pursue testing~ CF is often NOT on their radar and contributes to dx coming very late and after damage is already done.
In my daughter's case she was not dx'ed until age 7, and this was very much to her detriment. She lost a lot of ground compared to where her health was as a toddler/preschooler. She was in growth failure by the time she was dx'ed and had started experiencing more frequent respiratory infections that would have benefited so much by appropriate, aggressive management.
Re. the CF test that was done initially that turned up negative:
I missed your mention that your child had a normal NBS for CF. As recently as 6yrs ago many states were not even screening for CF yet! My state was one of the last to mandate it and this only occurred in the last year. However, a newborn screen is just that- a screen, and is not diagnostic. Especially 6 years ago, it likely did not include any genetic testing but was rather more likely to only be a test of IRT levels. The majority of babies with elevated IRT levels do not have CF and some that do have it will not present with elevated IRT (and therefore don't get further testing if asymptomatic at that time) so some will be missed. We see this happen quite often here on this website; children who fall through the cracks of this system and often go quite a long time before diagnosis. It's very, very fortunate when a dr is observant and proactive enough to pursue testing~ CF is often NOT on their radar and contributes to dx coming very late and after damage is already done.
In my daughter's case she was not dx'ed until age 7, and this was very much to her detriment. She lost a lot of ground compared to where her health was as a toddler/preschooler. She was in growth failure by the time she was dx'ed and had started experiencing more frequent respiratory infections that would have benefited so much by appropriate, aggressive management.
I missed your mention that your child had a normal NBS for CF. As recently as 6yrs ago many states were not even screening for CF yet! My state was one of the last to mandate it and this only occurred in the last year. However, a newborn screen is just that- a screen, and is not diagnostic. Especially 6 years ago, it likely did not include any genetic testing but was rather more likely to only be a test of IRT levels. The majority of babies with elevated IRT levels do not have CF and some that do have it will not present with elevated IRT (and therefore don't get further testing if asymptomatic at that time) so some will be missed. We see this happen quite often here on this website; children who fall through the cracks of this system and often go quite a long time before diagnosis. It's very, very fortunate when a dr is observant and proactive enough to pursue testing~ CF is often NOT on their radar and contributes to dx coming very late and after damage is already done.
In my daughter's case she was not dx'ed until age 7, and this was very much to her detriment. She lost a lot of ground compared to where her health was as a toddler/preschooler. She was in growth failure by the time she was dx'ed and had started experiencing more frequent respiratory infections that would have benefited so much by appropriate, aggressive management.
Re. the CF test that was done initially that turned up negative:
<br />I missed your mention that your child had a normal NBS for CF. As recently as 6yrs ago many states were not even screening for CF yet! My state was one of the last to mandate it and this only occurred in the last year. However, a newborn screen is just that- a screen, and is not diagnostic. Especially 6 years ago, it likely did not include any genetic testing but was rather more likely to only be a test of IRT levels. The majority of babies with elevated IRT levels do not have CF and some that do have it will not present with elevated IRT (and therefore don't get further testing if asymptomatic at that time) so some will be missed. We see this happen quite often here on this website; children who fall through the cracks of this system and often go quite a long time before diagnosis. It's very, very fortunate when a dr is observant and proactive enough to pursue testing~ CF is often NOT on their radar and contributes to dx coming very late and after damage is already done.
<br />
<br />In my daughter's case she was not dx'ed until age 7, and this was very much to her detriment. She lost a lot of ground compared to where her health was as a toddler/preschooler. She was in growth failure by the time she was dx'ed and had started experiencing more frequent respiratory infections that would have benefited so much by appropriate, aggressive management.
<br />I missed your mention that your child had a normal NBS for CF. As recently as 6yrs ago many states were not even screening for CF yet! My state was one of the last to mandate it and this only occurred in the last year. However, a newborn screen is just that- a screen, and is not diagnostic. Especially 6 years ago, it likely did not include any genetic testing but was rather more likely to only be a test of IRT levels. The majority of babies with elevated IRT levels do not have CF and some that do have it will not present with elevated IRT (and therefore don't get further testing if asymptomatic at that time) so some will be missed. We see this happen quite often here on this website; children who fall through the cracks of this system and often go quite a long time before diagnosis. It's very, very fortunate when a dr is observant and proactive enough to pursue testing~ CF is often NOT on their radar and contributes to dx coming very late and after damage is already done.
<br />
<br />In my daughter's case she was not dx'ed until age 7, and this was very much to her detriment. She lost a lot of ground compared to where her health was as a toddler/preschooler. She was in growth failure by the time she was dx'ed and had started experiencing more frequent respiratory infections that would have benefited so much by appropriate, aggressive management.
posoutlook
New member
I know how your feeling. My son was diagnosed at 8 years old. In Jan it will be one year since diagnosis. He also had the new born screening that came up negative. We have been battling colds, sinus infections, ear infections and a cough since he was 2 months old. No one ever mentioned CF until his Ent doctors could not figure out anything else to do with him so she asked for a sweat test to rule out CF.
To our surprise we were called within 3 hours to make an appointment for the next day at the CF clinic.
My sons case has been very confusing to the doctors cause his genetic testing is all unknown mutations. We finally had a second opinion at Johns Hopkins in September and it is confirmed CF.
All I know is since my son started his inhaler and vest therapy he goes weeks with out coughing (which he used to do daily) he don't have nearly as many sinus infections and has just recently had a great check up at ENT and that has not happened since he was 2 months.
The fear of the unknown is always more frightening then the truth. I feel a bit a freedom now knowing the problem cause now I can live in the solution and not the problem like I did for 8 years before his diagnosis.
To our surprise we were called within 3 hours to make an appointment for the next day at the CF clinic.
My sons case has been very confusing to the doctors cause his genetic testing is all unknown mutations. We finally had a second opinion at Johns Hopkins in September and it is confirmed CF.
All I know is since my son started his inhaler and vest therapy he goes weeks with out coughing (which he used to do daily) he don't have nearly as many sinus infections and has just recently had a great check up at ENT and that has not happened since he was 2 months.
The fear of the unknown is always more frightening then the truth. I feel a bit a freedom now knowing the problem cause now I can live in the solution and not the problem like I did for 8 years before his diagnosis.
posoutlook
New member
I know how your feeling. My son was diagnosed at 8 years old. In Jan it will be one year since diagnosis. He also had the new born screening that came up negative. We have been battling colds, sinus infections, ear infections and a cough since he was 2 months old. No one ever mentioned CF until his Ent doctors could not figure out anything else to do with him so she asked for a sweat test to rule out CF.
To our surprise we were called within 3 hours to make an appointment for the next day at the CF clinic.
My sons case has been very confusing to the doctors cause his genetic testing is all unknown mutations. We finally had a second opinion at Johns Hopkins in September and it is confirmed CF.
All I know is since my son started his inhaler and vest therapy he goes weeks with out coughing (which he used to do daily) he don't have nearly as many sinus infections and has just recently had a great check up at ENT and that has not happened since he was 2 months.
The fear of the unknown is always more frightening then the truth. I feel a bit a freedom now knowing the problem cause now I can live in the solution and not the problem like I did for 8 years before his diagnosis.
To our surprise we were called within 3 hours to make an appointment for the next day at the CF clinic.
My sons case has been very confusing to the doctors cause his genetic testing is all unknown mutations. We finally had a second opinion at Johns Hopkins in September and it is confirmed CF.
All I know is since my son started his inhaler and vest therapy he goes weeks with out coughing (which he used to do daily) he don't have nearly as many sinus infections and has just recently had a great check up at ENT and that has not happened since he was 2 months.
The fear of the unknown is always more frightening then the truth. I feel a bit a freedom now knowing the problem cause now I can live in the solution and not the problem like I did for 8 years before his diagnosis.
posoutlook
New member
I know how your feeling. My son was diagnosed at 8 years old. In Jan it will be one year since diagnosis. He also had the new born screening that came up negative. We have been battling colds, sinus infections, ear infections and a cough since he was 2 months old. No one ever mentioned CF until his Ent doctors could not figure out anything else to do with him so she asked for a sweat test to rule out CF.
<br />To our surprise we were called within 3 hours to make an appointment for the next day at the CF clinic.
<br />My sons case has been very confusing to the doctors cause his genetic testing is all unknown mutations. We finally had a second opinion at Johns Hopkins in September and it is confirmed CF.
<br />All I know is since my son started his inhaler and vest therapy he goes weeks with out coughing (which he used to do daily) he don't have nearly as many sinus infections and has just recently had a great check up at ENT and that has not happened since he was 2 months.
<br />The fear of the unknown is always more frightening then the truth. I feel a bit a freedom now knowing the problem cause now I can live in the solution and not the problem like I did for 8 years before his diagnosis.
<br />
<br />To our surprise we were called within 3 hours to make an appointment for the next day at the CF clinic.
<br />My sons case has been very confusing to the doctors cause his genetic testing is all unknown mutations. We finally had a second opinion at Johns Hopkins in September and it is confirmed CF.
<br />All I know is since my son started his inhaler and vest therapy he goes weeks with out coughing (which he used to do daily) he don't have nearly as many sinus infections and has just recently had a great check up at ENT and that has not happened since he was 2 months.
<br />The fear of the unknown is always more frightening then the truth. I feel a bit a freedom now knowing the problem cause now I can live in the solution and not the problem like I did for 8 years before his diagnosis.
<br />