I have been in shock

jrccewf

New member
I have 4 beautiful children who all except my little girl have been fairly healthy. My little girl who just turned 6 has been a frail child all her life. Started with seizures as an infant and I have just been chalking all her health issues up to her Seizures. However I have always questioned her issues with weight gain and lack there of. I would get so frustrated with parents who sent their children to school ill or to day care ill because it didn't matter it was her who would get sick and I am not talking about a 24 hour bug or a cough and cold lasting a few days. I am talking about severe dehydration causing hospitalizations. I don't think we have gone more then 2 months without some type of illness with her for the past 6 years.
Ok on with why I am here. A few weeks ago she was yet again very ill and hospitalized for dehydration and severe weight loss. We had finally been excited she had made it up to the 35 lb mark just to get sick and fall back below 30 lbs. I pushed for a GI consult because I said it is not as if she does not eat she out eats me sometimes. She has a wonderful appitite but just does not ever gain. So Thursday we went to see a GI specialist and the first thing he asked me was about lung disease in our families. I didn't know of any but he said the first thing I notice about your daughter is that she has clubbing of her fingers. We discussed her health issues for the last 6 years. Her seizures and how I felt a lot of her illness was related to that. Her chronic constipation, which again I felt was an issue with her seizure meds. Then he told me what he was thinking and that was that she may have CF. In my mind I kept saying to myself but she does not have the lung issues so there is no way. Until I got home and read more about it. So this weeks she is going in for a number tests. Including Sweat test, blood work that I really was too overwhelmed to listen to what they were going to do and stool samples. I initially thought she could have Celiac disease because we have a very strong family history of it however she was tested for that and it came back negative. The specialist told me that it is within the same family of illness's as CF along with Type 1 diab. which my younger sister has.

I am feeling a little overwhelmed and scared right now. I live far from family and my husband is currently overseas. I read quite a bit on her and have found everything very informative. Thank you for that! If my daughters sweat test comes back on the lower side do I push for further testing? I look at her all the time and wonder what it is I can do to make her better. Make her feel better and make her look healthy, people are afriad to touch her she looks to frail. The Gym teacher will not let her participate in all the activities because she is afraid for her safety.

Well that was a long post and I think I have said enough, you are probably tired of hearing it but felt I needed to get some of this off my chest! Felt like a good place to post would be here, many of my friends I have spoke with just do not understand.

Again thank you so much for listening!

Jennifer
 

jrccewf

New member
I have 4 beautiful children who all except my little girl have been fairly healthy. My little girl who just turned 6 has been a frail child all her life. Started with seizures as an infant and I have just been chalking all her health issues up to her Seizures. However I have always questioned her issues with weight gain and lack there of. I would get so frustrated with parents who sent their children to school ill or to day care ill because it didn't matter it was her who would get sick and I am not talking about a 24 hour bug or a cough and cold lasting a few days. I am talking about severe dehydration causing hospitalizations. I don't think we have gone more then 2 months without some type of illness with her for the past 6 years.
Ok on with why I am here. A few weeks ago she was yet again very ill and hospitalized for dehydration and severe weight loss. We had finally been excited she had made it up to the 35 lb mark just to get sick and fall back below 30 lbs. I pushed for a GI consult because I said it is not as if she does not eat she out eats me sometimes. She has a wonderful appitite but just does not ever gain. So Thursday we went to see a GI specialist and the first thing he asked me was about lung disease in our families. I didn't know of any but he said the first thing I notice about your daughter is that she has clubbing of her fingers. We discussed her health issues for the last 6 years. Her seizures and how I felt a lot of her illness was related to that. Her chronic constipation, which again I felt was an issue with her seizure meds. Then he told me what he was thinking and that was that she may have CF. In my mind I kept saying to myself but she does not have the lung issues so there is no way. Until I got home and read more about it. So this weeks she is going in for a number tests. Including Sweat test, blood work that I really was too overwhelmed to listen to what they were going to do and stool samples. I initially thought she could have Celiac disease because we have a very strong family history of it however she was tested for that and it came back negative. The specialist told me that it is within the same family of illness's as CF along with Type 1 diab. which my younger sister has.

I am feeling a little overwhelmed and scared right now. I live far from family and my husband is currently overseas. I read quite a bit on her and have found everything very informative. Thank you for that! If my daughters sweat test comes back on the lower side do I push for further testing? I look at her all the time and wonder what it is I can do to make her better. Make her feel better and make her look healthy, people are afriad to touch her she looks to frail. The Gym teacher will not let her participate in all the activities because she is afraid for her safety.

Well that was a long post and I think I have said enough, you are probably tired of hearing it but felt I needed to get some of this off my chest! Felt like a good place to post would be here, many of my friends I have spoke with just do not understand.

Again thank you so much for listening!

Jennifer
 

jrccewf

New member
I have 4 beautiful children who all except my little girl have been fairly healthy. My little girl who just turned 6 has been a frail child all her life. Started with seizures as an infant and I have just been chalking all her health issues up to her Seizures. However I have always questioned her issues with weight gain and lack there of. I would get so frustrated with parents who sent their children to school ill or to day care ill because it didn't matter it was her who would get sick and I am not talking about a 24 hour bug or a cough and cold lasting a few days. I am talking about severe dehydration causing hospitalizations. I don't think we have gone more then 2 months without some type of illness with her for the past 6 years.
Ok on with why I am here. A few weeks ago she was yet again very ill and hospitalized for dehydration and severe weight loss. We had finally been excited she had made it up to the 35 lb mark just to get sick and fall back below 30 lbs. I pushed for a GI consult because I said it is not as if she does not eat she out eats me sometimes. She has a wonderful appitite but just does not ever gain. So Thursday we went to see a GI specialist and the first thing he asked me was about lung disease in our families. I didn't know of any but he said the first thing I notice about your daughter is that she has clubbing of her fingers. We discussed her health issues for the last 6 years. Her seizures and how I felt a lot of her illness was related to that. Her chronic constipation, which again I felt was an issue with her seizure meds. Then he told me what he was thinking and that was that she may have CF. In my mind I kept saying to myself but she does not have the lung issues so there is no way. Until I got home and read more about it. So this weeks she is going in for a number tests. Including Sweat test, blood work that I really was too overwhelmed to listen to what they were going to do and stool samples. I initially thought she could have Celiac disease because we have a very strong family history of it however she was tested for that and it came back negative. The specialist told me that it is within the same family of illness's as CF along with Type 1 diab. which my younger sister has.

I am feeling a little overwhelmed and scared right now. I live far from family and my husband is currently overseas. I read quite a bit on her and have found everything very informative. Thank you for that! If my daughters sweat test comes back on the lower side do I push for further testing? I look at her all the time and wonder what it is I can do to make her better. Make her feel better and make her look healthy, people are afriad to touch her she looks to frail. The Gym teacher will not let her participate in all the activities because she is afraid for her safety.

Well that was a long post and I think I have said enough, you are probably tired of hearing it but felt I needed to get some of this off my chest! Felt like a good place to post would be here, many of my friends I have spoke with just do not understand.

Again thank you so much for listening!

Jennifer
 

Alyssa

New member
Jennifer,

Welcome to the site. Thanks for you post -- you described what many people on here have gone through. This is a great place for support and information.

Yes, if the sweat test comes back anywhere above 30 you should do further testing - ask for... demand FULL genetic testing. Many doctors and/or insurance companies want to do a screening or testing for only 89 genes, but the only way to know for sure is to test for all known genes, which is over 1500.

Please read my first entry on my blog page (link is in my signature line) for more info about sweat test numbers and testing out in the "normal range"

Hang in there and please keep us posted.
 

Alyssa

New member
Jennifer,

Welcome to the site. Thanks for you post -- you described what many people on here have gone through. This is a great place for support and information.

Yes, if the sweat test comes back anywhere above 30 you should do further testing - ask for... demand FULL genetic testing. Many doctors and/or insurance companies want to do a screening or testing for only 89 genes, but the only way to know for sure is to test for all known genes, which is over 1500.

Please read my first entry on my blog page (link is in my signature line) for more info about sweat test numbers and testing out in the "normal range"

Hang in there and please keep us posted.
 

Alyssa

New member
Jennifer,

Welcome to the site. Thanks for you post -- you described what many people on here have gone through. This is a great place for support and information.

Yes, if the sweat test comes back anywhere above 30 you should do further testing - ask for... demand FULL genetic testing. Many doctors and/or insurance companies want to do a screening or testing for only 89 genes, but the only way to know for sure is to test for all known genes, which is over 1500.

Please read my first entry on my blog page (link is in my signature line) for more info about sweat test numbers and testing out in the "normal range"

Hang in there and please keep us posted.
 

JazzysMom

New member
I definitely would push for a full panel in the genetic testing if the sweat test is borderline or inconclusive. IF for no other reason to beter rule CF out. I can only imagine how overwhelmed you are, but if you could find an answer and make your child feel better its all worth it. I am curious about the seizures tho. I also have seizures. My first grand mal took place about a year after my CF dx. There is no "connection" to CF that I am directly aware of and I am only aware of 2 other people who have CF that also have seizure disorders. Please feel free to vent here. That is what we are for. Keep us udpated as well one way or the other. Hugs and Strength to you as you venture down this road!
 

JazzysMom

New member
I definitely would push for a full panel in the genetic testing if the sweat test is borderline or inconclusive. IF for no other reason to beter rule CF out. I can only imagine how overwhelmed you are, but if you could find an answer and make your child feel better its all worth it. I am curious about the seizures tho. I also have seizures. My first grand mal took place about a year after my CF dx. There is no "connection" to CF that I am directly aware of and I am only aware of 2 other people who have CF that also have seizure disorders. Please feel free to vent here. That is what we are for. Keep us udpated as well one way or the other. Hugs and Strength to you as you venture down this road!
 

JazzysMom

New member
I definitely would push for a full panel in the genetic testing if the sweat test is borderline or inconclusive. IF for no other reason to beter rule CF out. I can only imagine how overwhelmed you are, but if you could find an answer and make your child feel better its all worth it. I am curious about the seizures tho. I also have seizures. My first grand mal took place about a year after my CF dx. There is no "connection" to CF that I am directly aware of and I am only aware of 2 other people who have CF that also have seizure disorders. Please feel free to vent here. That is what we are for. Keep us udpated as well one way or the other. Hugs and Strength to you as you venture down this road!
 

ktsmom

New member
Jennifer, welcome - I'm glad you found us. You are right, not many will understand what you are feeling and going through. But that's why we are here!

I am so glad you pushed for a GI consult, and that he noticed the clubbing of her fingers. You may very well be on the road to your daughter getting the treatment she needs. This will make all the difference in her health! And I agree with the others - with her history and symptoms you should push for the full genetic panel if her sweat test comes back negative or borderline. Why not - at least you would know, one way or the other.

My daughter has really only presented with GI symptoms, but we are on preventive therapies for her lungs.

I wish you all the best, and we are here 24/7. Let us know how it goes.
 

ktsmom

New member
Jennifer, welcome - I'm glad you found us. You are right, not many will understand what you are feeling and going through. But that's why we are here!

I am so glad you pushed for a GI consult, and that he noticed the clubbing of her fingers. You may very well be on the road to your daughter getting the treatment she needs. This will make all the difference in her health! And I agree with the others - with her history and symptoms you should push for the full genetic panel if her sweat test comes back negative or borderline. Why not - at least you would know, one way or the other.

My daughter has really only presented with GI symptoms, but we are on preventive therapies for her lungs.

I wish you all the best, and we are here 24/7. Let us know how it goes.
 

ktsmom

New member
Jennifer, welcome - I'm glad you found us. You are right, not many will understand what you are feeling and going through. But that's why we are here!

I am so glad you pushed for a GI consult, and that he noticed the clubbing of her fingers. You may very well be on the road to your daughter getting the treatment she needs. This will make all the difference in her health! And I agree with the others - with her history and symptoms you should push for the full genetic panel if her sweat test comes back negative or borderline. Why not - at least you would know, one way or the other.

My daughter has really only presented with GI symptoms, but we are on preventive therapies for her lungs.

I wish you all the best, and we are here 24/7. Let us know how it goes.
 
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