Possible new diagnosis in 13 yr old girl

dawnd470 · Mar 11, 2010

Hello everyone. I'm new to this forum, and not sure where to go for answers but this seemed like a good place to start. My 13 yr old niece has been battling stomach pain, bowel problems, vomiting for over a year. My sister is not very assertive with physicians, and tends to not ask a lot of questions or demand answers, either. About 2 months ago, my niece was diagnosed with pancreatitis, but the doctor wouldn't give my sister any advice on what to do about it. Being a nurse myself, I gave her some dietary restrictions to follow and OTC medication to take, but now, although her symptoms have improved, her pancreatic enzymes are still grossly elevated. My sister got a call today from a doctor she'd never heard of, telling her that my niece's genetic tests had come to her and that she was positive for the CF gene, and wants her to come in ASAP for more tests. Nobody had told her they were even doing genetic tests, and the doctor gave her no more information.

Although I'm a nurse, I'm not that familiar with CF. The only cases I've seen involved respiratory problems, which my niece does not have, and were diagnosed at much younger ages. We have no family history of CF. I'm not trying to be in denial, I'm just trying to get as much information to help educate my sister as possible, since she won't speak up at the doctor's office, and we unfortunately don't live in the same area so I can't go with her. Does anyone have any advice?

dawnd470 · Mar 11, 2010

Hello everyone. I'm new to this forum, and not sure where to go for answers but this seemed like a good place to start. My 13 yr old niece has been battling stomach pain, bowel problems, vomiting for over a year. My sister is not very assertive with physicians, and tends to not ask a lot of questions or demand answers, either. About 2 months ago, my niece was diagnosed with pancreatitis, but the doctor wouldn't give my sister any advice on what to do about it. Being a nurse myself, I gave her some dietary restrictions to follow and OTC medication to take, but now, although her symptoms have improved, her pancreatic enzymes are still grossly elevated. My sister got a call today from a doctor she'd never heard of, telling her that my niece's genetic tests had come to her and that she was positive for the CF gene, and wants her to come in ASAP for more tests. Nobody had told her they were even doing genetic tests, and the doctor gave her no more information.

Although I'm a nurse, I'm not that familiar with CF. The only cases I've seen involved respiratory problems, which my niece does not have, and were diagnosed at much younger ages. We have no family history of CF. I'm not trying to be in denial, I'm just trying to get as much information to help educate my sister as possible, since she won't speak up at the doctor's office, and we unfortunately don't live in the same area so I can't go with her. Does anyone have any advice?

dawnd470 · Mar 11, 2010

Hello everyone. I'm new to this forum, and not sure where to go for answers but this seemed like a good place to start. My 13 yr old niece has been battling stomach pain, bowel problems, vomiting for over a year. My sister is not very assertive with physicians, and tends to not ask a lot of questions or demand answers, either. About 2 months ago, my niece was diagnosed with pancreatitis, but the doctor wouldn't give my sister any advice on what to do about it. Being a nurse myself, I gave her some dietary restrictions to follow and OTC medication to take, but now, although her symptoms have improved, her pancreatic enzymes are still grossly elevated. My sister got a call today from a doctor she'd never heard of, telling her that my niece's genetic tests had come to her and that she was positive for the CF gene, and wants her to come in ASAP for more tests. Nobody had told her they were even doing genetic tests, and the doctor gave her no more information.

Although I'm a nurse, I'm not that familiar with CF. The only cases I've seen involved respiratory problems, which my niece does not have, and were diagnosed at much younger ages. We have no family history of CF. I'm not trying to be in denial, I'm just trying to get as much information to help educate my sister as possible, since she won't speak up at the doctor's office, and we unfortunately don't live in the same area so I can't go with her. Does anyone have any advice?

dawnd470 · Mar 11, 2010

Hello everyone. I'm new to this forum, and not sure where to go for answers but this seemed like a good place to start. My 13 yr old niece has been battling stomach pain, bowel problems, vomiting for over a year. My sister is not very assertive with physicians, and tends to not ask a lot of questions or demand answers, either. About 2 months ago, my niece was diagnosed with pancreatitis, but the doctor wouldn't give my sister any advice on what to do about it. Being a nurse myself, I gave her some dietary restrictions to follow and OTC medication to take, but now, although her symptoms have improved, her pancreatic enzymes are still grossly elevated. My sister got a call today from a doctor she'd never heard of, telling her that my niece's genetic tests had come to her and that she was positive for the CF gene, and wants her to come in ASAP for more tests. Nobody had told her they were even doing genetic tests, and the doctor gave her no more information.

Although I'm a nurse, I'm not that familiar with CF. The only cases I've seen involved respiratory problems, which my niece does not have, and were diagnosed at much younger ages. We have no family history of CF. I'm not trying to be in denial, I'm just trying to get as much information to help educate my sister as possible, since she won't speak up at the doctor's office, and we unfortunately don't live in the same area so I can't go with her. Does anyone have any advice?

dawnd470 · Mar 11, 2010

Hello everyone. I'm new to this forum, and not sure where to go for answers but this seemed like a good place to start. My 13 yr old niece has been battling stomach pain, bowel problems, vomiting for over a year. My sister is not very assertive with physicians, and tends to not ask a lot of questions or demand answers, either. About 2 months ago, my niece was diagnosed with pancreatitis, but the doctor wouldn't give my sister any advice on what to do about it. Being a nurse myself, I gave her some dietary restrictions to follow and OTC medication to take, but now, although her symptoms have improved, her pancreatic enzymes are still grossly elevated. My sister got a call today from a doctor she'd never heard of, telling her that my niece's genetic tests had come to her and that she was positive for the CF gene, and wants her to come in ASAP for more tests. Nobody had told her they were even doing genetic tests, and the doctor gave her no more information.
 
 Although I'm a nurse, I'm not that familiar with CF. The only cases I've seen involved respiratory problems, which my niece does not have, and were diagnosed at much younger ages. We have no family history of CF. I'm not trying to be in denial, I'm just trying to get as much information to help educate my sister as possible, since she won't speak up at the doctor's office, and we unfortunately don't live in the same area so I can't go with her. Does anyone have any advice?

JORDYSMOM · Mar 11, 2010

Hello, and welcome. I'm sorry that your niece is going through so much.

I'm glad that your nieces doc ordered the genetic test. A lot of folks in this community may find it ironic (for lack of a better word) that your sister didn't know the doc ordered it, because so often, parents end up fighting tooth & nail to get their docs to order this test. Do you know if they ordered a full panel or just a screening? You said she tested positive for "the" cf gene, and there are over 1500 cf genes. A person has to have 2 of them to have CF.

If your niece has CF, and it sounds like she may, she should be seen by a certified CF center in her area. You can look them up here: <a target=_blank class=ftalternatingbarlinklarge href="http://www.cff.org/LivingWithCF/CareCenterNetwork/CFFoundation-accreditedCareCenters/.
">http://www.cff.org/LivingWithC...creditedCareCenters/.
</a>
I hope your sister will be able speak up & ask questions, because this disease is complex, and she needs to educate herself for your nieces sake. I wish you the best.

Stacey

JORDYSMOM · Mar 11, 2010

Hello, and welcome. I'm sorry that your niece is going through so much.

I'm glad that your nieces doc ordered the genetic test. A lot of folks in this community may find it ironic (for lack of a better word) that your sister didn't know the doc ordered it, because so often, parents end up fighting tooth & nail to get their docs to order this test. Do you know if they ordered a full panel or just a screening? You said she tested positive for "the" cf gene, and there are over 1500 cf genes. A person has to have 2 of them to have CF.

If your niece has CF, and it sounds like she may, she should be seen by a certified CF center in her area. You can look them up here: <a target=_blank class=ftalternatingbarlinklarge href="http://www.cff.org/LivingWithCF/CareCenterNetwork/CFFoundation-accreditedCareCenters/.
">http://www.cff.org/LivingWithC...creditedCareCenters/.
</a>
I hope your sister will be able speak up & ask questions, because this disease is complex, and she needs to educate herself for your nieces sake. I wish you the best.

Stacey

JORDYSMOM · Mar 11, 2010

Hello, and welcome. I'm sorry that your niece is going through so much.

I'm glad that your nieces doc ordered the genetic test. A lot of folks in this community may find it ironic (for lack of a better word) that your sister didn't know the doc ordered it, because so often, parents end up fighting tooth & nail to get their docs to order this test. Do you know if they ordered a full panel or just a screening? You said she tested positive for "the" cf gene, and there are over 1500 cf genes. A person has to have 2 of them to have CF.

If your niece has CF, and it sounds like she may, she should be seen by a certified CF center in her area. You can look them up here: <a target=_blank class=ftalternatingbarlinklarge href="http://www.cff.org/LivingWithCF/CareCenterNetwork/CFFoundation-accreditedCareCenters/.
">http://www.cff.org/LivingWithC...creditedCareCenters/.
</a>
I hope your sister will be able speak up & ask questions, because this disease is complex, and she needs to educate herself for your nieces sake. I wish you the best.

Stacey

JORDYSMOM · Mar 11, 2010

Hello, and welcome. I'm sorry that your niece is going through so much.

I'm glad that your nieces doc ordered the genetic test. A lot of folks in this community may find it ironic (for lack of a better word) that your sister didn't know the doc ordered it, because so often, parents end up fighting tooth & nail to get their docs to order this test. Do you know if they ordered a full panel or just a screening? You said she tested positive for "the" cf gene, and there are over 1500 cf genes. A person has to have 2 of them to have CF.

If your niece has CF, and it sounds like she may, she should be seen by a certified CF center in her area. You can look them up here: <a target=_blank class=ftalternatingbarlinklarge href="http://www.cff.org/LivingWithCF/CareCenterNetwork/CFFoundation-accreditedCareCenters/.
">http://www.cff.org/LivingWithC...creditedCareCenters/.
</a>
I hope your sister will be able speak up & ask questions, because this disease is complex, and she needs to educate herself for your nieces sake. I wish you the best.

Stacey

JORDYSMOM · Mar 11, 2010

Hello, and welcome. I'm sorry that your niece is going through so much.
 
 I'm glad that your nieces doc ordered the genetic test. A lot of folks in this community may find it ironic (for lack of a better word) that your sister didn't know the doc ordered it, because so often, parents end up fighting tooth & nail to get their docs to order this test. Do you know if they ordered a full panel or just a screening? You said she tested positive for "the" cf gene, and there are over 1500 cf genes. A person has to have 2 of them to have CF.
 
 If your niece has CF, and it sounds like she may, she should be seen by a certified CF center in her area. You can look them up here: <a target=_blank class=ftalternatingbarlinklarge href="http://www.cff.org/LivingWithCF/CareCenterNetwork/CFFoundation-accreditedCareCenters/.
">http://www.cff.org/LivingWithC...creditedCareCenters/.
</a> 
 I hope your sister will be able speak up & ask questions, because this disease is complex, and she needs to educate herself for your nieces sake. I wish you the best.
 
 Stacey

petnurse · Mar 11, 2010

Sorry to hear you are dealing with this. Just to give you info...we have no one in our family that "knew" they had it either. So, our baby is the first. I think probably the majority of the time, people do not know it is in their families until they have a child with it. As far as the respiratory issues, the disease is progressive. I would think while some young children have resp issues, most people are diagnosed due to pancreatic insufficiency (bowel problems, failure to thrive, etc). Good luck in this journey.

petnurse · Mar 11, 2010

Sorry to hear you are dealing with this. Just to give you info...we have no one in our family that "knew" they had it either. So, our baby is the first. I think probably the majority of the time, people do not know it is in their families until they have a child with it. As far as the respiratory issues, the disease is progressive. I would think while some young children have resp issues, most people are diagnosed due to pancreatic insufficiency (bowel problems, failure to thrive, etc). Good luck in this journey.

petnurse · Mar 11, 2010

Sorry to hear you are dealing with this. Just to give you info...we have no one in our family that "knew" they had it either. So, our baby is the first. I think probably the majority of the time, people do not know it is in their families until they have a child with it. As far as the respiratory issues, the disease is progressive. I would think while some young children have resp issues, most people are diagnosed due to pancreatic insufficiency (bowel problems, failure to thrive, etc). Good luck in this journey.

petnurse · Mar 11, 2010

Sorry to hear you are dealing with this. Just to give you info...we have no one in our family that "knew" they had it either. So, our baby is the first. I think probably the majority of the time, people do not know it is in their families until they have a child with it. As far as the respiratory issues, the disease is progressive. I would think while some young children have resp issues, most people are diagnosed due to pancreatic insufficiency (bowel problems, failure to thrive, etc). Good luck in this journey.

petnurse · Mar 11, 2010

Sorry to hear you are dealing with this. Just to give you info...we have no one in our family that "knew" they had it either. So, our baby is the first. I think probably the majority of the time, people do not know it is in their families until they have a child with it. As far as the respiratory issues, the disease is progressive. I would think while some young children have resp issues, most people are diagnosed due to pancreatic insufficiency (bowel problems, failure to thrive, etc). Good luck in this journey.

dawnd470 · Mar 12, 2010

Thank you

Thank you for the information. Unfortunately, I really don't have any more information about the genetic test, neither does my sister. She said she has to take her back to Children's Hospital in Columbus, OH, which is a certified CF center, for more testing tomorrow, but doesn't know what tests they're going to do. I've told her she needs to do some research before going to the hospital and be prepared with questions, and not to leave the clinic until she's satisfied with the answers and understands what she's been told. I'm trying to help as much as I can from where I am (maryland) with research and preparing questions. My sister has the best intentions and loves her children deeply, she's just not a very assertive person. But with her child's health on the line, I hope she can overcome that.

dawnd470 · Mar 12, 2010

Thank you

Thank you for the information. Unfortunately, I really don't have any more information about the genetic test, neither does my sister. She said she has to take her back to Children's Hospital in Columbus, OH, which is a certified CF center, for more testing tomorrow, but doesn't know what tests they're going to do. I've told her she needs to do some research before going to the hospital and be prepared with questions, and not to leave the clinic until she's satisfied with the answers and understands what she's been told. I'm trying to help as much as I can from where I am (maryland) with research and preparing questions. My sister has the best intentions and loves her children deeply, she's just not a very assertive person. But with her child's health on the line, I hope she can overcome that.

dawnd470 · Mar 12, 2010

Thank you

Thank you for the information. Unfortunately, I really don't have any more information about the genetic test, neither does my sister. She said she has to take her back to Children's Hospital in Columbus, OH, which is a certified CF center, for more testing tomorrow, but doesn't know what tests they're going to do. I've told her she needs to do some research before going to the hospital and be prepared with questions, and not to leave the clinic until she's satisfied with the answers and understands what she's been told. I'm trying to help as much as I can from where I am (maryland) with research and preparing questions. My sister has the best intentions and loves her children deeply, she's just not a very assertive person. But with her child's health on the line, I hope she can overcome that.

dawnd470 · Mar 12, 2010

Thank you

Thank you for the information. Unfortunately, I really don't have any more information about the genetic test, neither does my sister. She said she has to take her back to Children's Hospital in Columbus, OH, which is a certified CF center, for more testing tomorrow, but doesn't know what tests they're going to do. I've told her she needs to do some research before going to the hospital and be prepared with questions, and not to leave the clinic until she's satisfied with the answers and understands what she's been told. I'm trying to help as much as I can from where I am (maryland) with research and preparing questions. My sister has the best intentions and loves her children deeply, she's just not a very assertive person. But with her child's health on the line, I hope she can overcome that.

dawnd470 · Mar 12, 2010

Thank you

Thank you for the information. Unfortunately, I really don't have any more information about the genetic test, neither does my sister. She said she has to take her back to Children's Hospital in Columbus, OH, which is a certified CF center, for more testing tomorrow, but doesn't know what tests they're going to do. I've told her she needs to do some research before going to the hospital and be prepared with questions, and not to leave the clinic until she's satisfied with the answers and understands what she's been told. I'm trying to help as much as I can from where I am (maryland) with research and preparing questions. My sister has the best intentions and loves her children deeply, she's just not a very assertive person. But with her child's health on the line, I hope she can overcome that.

Possible new diagnosis in 13 yr old girl

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