My son had borderline sweat tests 51 & 57, then his initial genetic testing came back negative, which we celebrated. But my husband and I are perplexed. It is so obvious he is malnourished-so many GI problems for a long time. I keep searching for reasons for malnourishment which takes me to pancreatic insufficiency which points to CF. The other things it could be-shwamans, addison's, hypothyroidism, anorexia-(he eats like a horse!) just don't fit. I will of course request the full panel of genetic testing at our next appt., but <i><b>I wanted to know if any of you had experienced an initial negative genetic panel then went on to find mutations in the full panel. </b></i> My son also has mild autism and severe adhd and he has to take large doses of medications for anything to work and then it doesn't last long. We just feel like if he body would start absorbing foods and medications that he will start getting better. He often looks ill and I kind of hope that at our next appt. they will tell us that they want to begin treating him as if he has CF to see if there is an improvement with his health. We will see and I will be sure to keep you all updated.
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Negative initial genetic testing
- Thread starter asiewny
- Start date
My son had borderline sweat tests 51 & 57, then his initial genetic testing came back negative, which we celebrated. But my husband and I are perplexed. It is so obvious he is malnourished-so many GI problems for a long time. I keep searching for reasons for malnourishment which takes me to pancreatic insufficiency which points to CF. The other things it could be-shwamans, addison's, hypothyroidism, anorexia-(he eats like a horse!) just don't fit. I will of course request the full panel of genetic testing at our next appt., but <i><b>I wanted to know if any of you had experienced an initial negative genetic panel then went on to find mutations in the full panel. </b></i> My son also has mild autism and severe adhd and he has to take large doses of medications for anything to work and then it doesn't last long. We just feel like if he body would start absorbing foods and medications that he will start getting better. He often looks ill and I kind of hope that at our next appt. they will tell us that they want to begin treating him as if he has CF to see if there is an improvement with his health. We will see and I will be sure to keep you all updated.
My son had borderline sweat tests 51 & 57, then his initial genetic testing came back negative, which we celebrated. But my husband and I are perplexed. It is so obvious he is malnourished-so many GI problems for a long time. I keep searching for reasons for malnourishment which takes me to pancreatic insufficiency which points to CF. The other things it could be-shwamans, addison's, hypothyroidism, anorexia-(he eats like a horse!) just don't fit. I will of course request the full panel of genetic testing at our next appt., but <i><b>I wanted to know if any of you had experienced an initial negative genetic panel then went on to find mutations in the full panel. </b></i> My son also has mild autism and severe adhd and he has to take large doses of medications for anything to work and then it doesn't last long. We just feel like if he body would start absorbing foods and medications that he will start getting better. He often looks ill and I kind of hope that at our next appt. they will tell us that they want to begin treating him as if he has CF to see if there is an improvement with his health. We will see and I will be sure to keep you all updated.
My son had borderline sweat tests 51 & 57, then his initial genetic testing came back negative, which we celebrated. But my husband and I are perplexed. It is so obvious he is malnourished-so many GI problems for a long time. I keep searching for reasons for malnourishment which takes me to pancreatic insufficiency which points to CF. The other things it could be-shwamans, addison's, hypothyroidism, anorexia-(he eats like a horse!) just don't fit. I will of course request the full panel of genetic testing at our next appt., but <i><b>I wanted to know if any of you had experienced an initial negative genetic panel then went on to find mutations in the full panel. </b></i> My son also has mild autism and severe adhd and he has to take large doses of medications for anything to work and then it doesn't last long. We just feel like if he body would start absorbing foods and medications that he will start getting better. He often looks ill and I kind of hope that at our next appt. they will tell us that they want to begin treating him as if he has CF to see if there is an improvement with his health. We will see and I will be sure to keep you all updated.
My son had borderline sweat tests 51 & 57, then his initial genetic testing came back negative, which we celebrated. But my husband and I are perplexed. It is so obvious he is malnourished-so many GI problems for a long time. I keep searching for reasons for malnourishment which takes me to pancreatic insufficiency which points to CF. The other things it could be-shwamans, addison's, hypothyroidism, anorexia-(he eats like a horse!) just don't fit. I will of course request the full panel of genetic testing at our next appt., but <i><b>I wanted to know if any of you had experienced an initial negative genetic panel then went on to find mutations in the full panel. </b></i> My son also has mild autism and severe adhd and he has to take large doses of medications for anything to work and then it doesn't last long. We just feel like if he body would start absorbing foods and medications that he will start getting better. He often looks ill and I kind of hope that at our next appt. they will tell us that they want to begin treating him as if he has CF to see if there is an improvement with his health. We will see and I will be sure to keep you all updated.
My daughter also had borderline sweat tests. And when they did the genetic testing they found 1 gene DeltaF508 and said she was just a carrier. When I went to another clinic for a second opinion they did another gene test that found a "strain" to a cf gene but could not tell if it was from me or the father. If it was from me then she would still be a carrier but if it wasn't then she had to get it from him so they tested me b/c he is not around and it did not come from me so they said she she had cf. The other is still unidentified. That test combined with a throat swab that cultured pseudomonas lead to her diagnosis. Her father is black so maybe that is why it was harder to detect the gene since it is rare for black people anyways. Who knows. Good luck on your journey.
My daughter also had borderline sweat tests. And when they did the genetic testing they found 1 gene DeltaF508 and said she was just a carrier. When I went to another clinic for a second opinion they did another gene test that found a "strain" to a cf gene but could not tell if it was from me or the father. If it was from me then she would still be a carrier but if it wasn't then she had to get it from him so they tested me b/c he is not around and it did not come from me so they said she she had cf. The other is still unidentified. That test combined with a throat swab that cultured pseudomonas lead to her diagnosis. Her father is black so maybe that is why it was harder to detect the gene since it is rare for black people anyways. Who knows. Good luck on your journey.
My daughter also had borderline sweat tests. And when they did the genetic testing they found 1 gene DeltaF508 and said she was just a carrier. When I went to another clinic for a second opinion they did another gene test that found a "strain" to a cf gene but could not tell if it was from me or the father. If it was from me then she would still be a carrier but if it wasn't then she had to get it from him so they tested me b/c he is not around and it did not come from me so they said she she had cf. The other is still unidentified. That test combined with a throat swab that cultured pseudomonas lead to her diagnosis. Her father is black so maybe that is why it was harder to detect the gene since it is rare for black people anyways. Who knows. Good luck on your journey.
My daughter also had borderline sweat tests. And when they did the genetic testing they found 1 gene DeltaF508 and said she was just a carrier. When I went to another clinic for a second opinion they did another gene test that found a "strain" to a cf gene but could not tell if it was from me or the father. If it was from me then she would still be a carrier but if it wasn't then she had to get it from him so they tested me b/c he is not around and it did not come from me so they said she she had cf. The other is still unidentified. That test combined with a throat swab that cultured pseudomonas lead to her diagnosis. Her father is black so maybe that is why it was harder to detect the gene since it is rare for black people anyways. Who knows. Good luck on your journey.
<br />My daughter also had borderline sweat tests. And when they did the genetic testing they found 1 gene DeltaF508 and said she was just a carrier. When I went to another clinic for a second opinion they did another gene test that found a "strain" to a cf gene but could not tell if it was from me or the father. If it was from me then she would still be a carrier but if it wasn't then she had to get it from him so they tested me b/c he is not around and it did not come from me so they said she she had cf. The other is still unidentified. That test combined with a throat swab that cultured pseudomonas lead to her diagnosis. Her father is black so maybe that is why it was harder to detect the gene since it is rare for black people anyways. Who knows. Good luck on your journey.
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valigirl21
Guest
I posted a little on your other thread, but just to let you know a little more..we are in the process of ordering the Ambry Amplified, it was not done originally. Basic panel, neg. ull panel, neg. Amplified,???. He is still treated as a pt with CF, it just makes it a little harder to get some equipment when it comes to insurance. My son also happens to be the same age as yours. PM me if you need to talk, or have questions or anything. Welcome to the family.
V
valigirl21
Guest
I posted a little on your other thread, but just to let you know a little more..we are in the process of ordering the Ambry Amplified, it was not done originally. Basic panel, neg. ull panel, neg. Amplified,???. He is still treated as a pt with CF, it just makes it a little harder to get some equipment when it comes to insurance. My son also happens to be the same age as yours. PM me if you need to talk, or have questions or anything. Welcome to the family.
V
valigirl21
Guest
I posted a little on your other thread, but just to let you know a little more..we are in the process of ordering the Ambry Amplified, it was not done originally. Basic panel, neg. ull panel, neg. Amplified,???. He is still treated as a pt with CF, it just makes it a little harder to get some equipment when it comes to insurance. My son also happens to be the same age as yours. PM me if you need to talk, or have questions or anything. Welcome to the family.
V
valigirl21
Guest
I posted a little on your other thread, but just to let you know a little more..we are in the process of ordering the Ambry Amplified, it was not done originally. Basic panel, neg. ull panel, neg. Amplified,???. He is still treated as a pt with CF, it just makes it a little harder to get some equipment when it comes to insurance. My son also happens to be the same age as yours. PM me if you need to talk, or have questions or anything. Welcome to the family.
V
valigirl21
Guest
I posted a little on your other thread, but just to let you know a little more..we are in the process of ordering the Ambry Amplified, it was not done originally. Basic panel, neg. ull panel, neg. Amplified,???. He is still treated as a pt with CF, it just makes it a little harder to get some equipment when it comes to insurance. My son also happens to be the same age as yours. PM me if you need to talk, or have questions or anything. Welcome to the family.
My daughter also had 4 boarderline sweat tests, severe failure to thrive and recurrent respiratory issues. She was hospitalized 12 times her fist 18 months. Her initial genetic testing was negative and then on the amplified test she only had a single mutation. Our pulmonologist decided to treat her as CF and she got better. They never found another mutation, but she has started growing and doing better since her diagnosis and starting on enzymes. SHe did have very low vitamin levels, very low zinc levels and was pancreatic insuffient at the time she started on them. There is still some disagreement among the subspecialists if she does or does not have CF, but they all recognize that she has dramatically changed since treating her as CF. SHe incidentally a year after her diagnosis had another sweat test that was positive.
My daughter also had 4 boarderline sweat tests, severe failure to thrive and recurrent respiratory issues. She was hospitalized 12 times her fist 18 months. Her initial genetic testing was negative and then on the amplified test she only had a single mutation. Our pulmonologist decided to treat her as CF and she got better. They never found another mutation, but she has started growing and doing better since her diagnosis and starting on enzymes. SHe did have very low vitamin levels, very low zinc levels and was pancreatic insuffient at the time she started on them. There is still some disagreement among the subspecialists if she does or does not have CF, but they all recognize that she has dramatically changed since treating her as CF. SHe incidentally a year after her diagnosis had another sweat test that was positive.
My daughter also had 4 boarderline sweat tests, severe failure to thrive and recurrent respiratory issues. She was hospitalized 12 times her fist 18 months. Her initial genetic testing was negative and then on the amplified test she only had a single mutation. Our pulmonologist decided to treat her as CF and she got better. They never found another mutation, but she has started growing and doing better since her diagnosis and starting on enzymes. SHe did have very low vitamin levels, very low zinc levels and was pancreatic insuffient at the time she started on them. There is still some disagreement among the subspecialists if she does or does not have CF, but they all recognize that she has dramatically changed since treating her as CF. SHe incidentally a year after her diagnosis had another sweat test that was positive.
My daughter also had 4 boarderline sweat tests, severe failure to thrive and recurrent respiratory issues. She was hospitalized 12 times her fist 18 months. Her initial genetic testing was negative and then on the amplified test she only had a single mutation. Our pulmonologist decided to treat her as CF and she got better. They never found another mutation, but she has started growing and doing better since her diagnosis and starting on enzymes. SHe did have very low vitamin levels, very low zinc levels and was pancreatic insuffient at the time she started on them. There is still some disagreement among the subspecialists if she does or does not have CF, but they all recognize that she has dramatically changed since treating her as CF. SHe incidentally a year after her diagnosis had another sweat test that was positive.
My daughter also had 4 boarderline sweat tests, severe failure to thrive and recurrent respiratory issues. She was hospitalized 12 times her fist 18 months. Her initial genetic testing was negative and then on the amplified test she only had a single mutation. Our pulmonologist decided to treat her as CF and she got better. They never found another mutation, but she has started growing and doing better since her diagnosis and starting on enzymes. SHe did have very low vitamin levels, very low zinc levels and was pancreatic insuffient at the time she started on them. There is still some disagreement among the subspecialists if she does or does not have CF, but they all recognize that she has dramatically changed since treating her as CF. SHe incidentally a year after her diagnosis had another sweat test that was positive.