A typical cf???

[okok]

I am so sorry that you are facing so much uncertaintity. I can't say if you daughter has CF or not but i can say that i am glad to hear you doc is investigating other possibilities in case something else is going on. I think it is probably wise to try to figure out if something else is the cause of your daughter's weight issues. Also since your doctor is not ruling out CF at this point (or even atypical CF) i think you can feel confident that your doctor will make sure your daughter gets the treatment she needs.

Best of luck! let us know how it is going.

 

[Foody]

This must be like a roller coaster for you. You obviously need to keep going with your investigation. In the mean time, have you tried a daily probiotic and other anti-inflammatory support for the gut? Dose she show any signs of food intolerances/allergies like dairy and wheat? Have they tested her for celiacs by checking for the gluten antigen? You may want to seriously consider food allergies as a possible cause of her issues. They can be tricky and really cause some major problems if unattended.

PM if you'd like some resources on food allergies.

 

[Foody]

This must be like a roller coaster for you. You obviously need to keep going with your investigation. In the mean time, have you tried a daily probiotic and other anti-inflammatory support for the gut? Dose she show any signs of food intolerances/allergies like dairy and wheat? Have they tested her for celiacs by checking for the gluten antigen? You may want to seriously consider food allergies as a possible cause of her issues. They can be tricky and really cause some major problems if unattended.

PM if you'd like some resources on food allergies.

 

[Foody]

This must be like a roller coaster for you. You obviously need to keep going with your investigation. In the mean time, have you tried a daily probiotic and other anti-inflammatory support for the gut? Dose she show any signs of food intolerances/allergies like dairy and wheat? Have they tested her for celiacs by checking for the gluten antigen? You may want to seriously consider food allergies as a possible cause of her issues. They can be tricky and really cause some major problems if unattended.

PM if you'd like some resources on food allergies.

 

[chrissyd]

I just thought I'd throw this out there. Not sure if it will mean anything or not...

I'm 30 with CF. My lungs are in good condition (not great...but still good) I have absorbtion problems, and I take enzymes with food to assist with the absorbtion...but so far; its not helping.
(they aren't sure what else to do but put me on lots of supplements and check me levels frequently)

I'm no doctor but wanted to speak up and say that I have CF and an absorbtion issue that enzymes are not helping with...

<img src="">


PS- my gene combo is delta F508 and R347P; I also have 2 mitochondrial mutations, a liver and thyroid problem that may or may not be connected to either diagnosis... (Basically I'm the "odd" one in my clinic!)

 

[chrissyd]

I just thought I'd throw this out there. Not sure if it will mean anything or not...

I'm 30 with CF. My lungs are in good condition (not great...but still good) I have absorbtion problems, and I take enzymes with food to assist with the absorbtion...but so far; its not helping.
(they aren't sure what else to do but put me on lots of supplements and check me levels frequently)

I'm no doctor but wanted to speak up and say that I have CF and an absorbtion issue that enzymes are not helping with...

<img src="">


PS- my gene combo is delta F508 and R347P; I also have 2 mitochondrial mutations, a liver and thyroid problem that may or may not be connected to either diagnosis... (Basically I'm the "odd" one in my clinic!)

 

[chrissyd]

I just thought I'd throw this out there. Not sure if it will mean anything or not...

I'm 30 with CF. My lungs are in good condition (not great...but still good) I have absorbtion problems, and I take enzymes with food to assist with the absorbtion...but so far; its not helping.
(they aren't sure what else to do but put me on lots of supplements and check me levels frequently)

I'm no doctor but wanted to speak up and say that I have CF and an absorbtion issue that enzymes are not helping with...

<img src="">


PS- my gene combo is delta F508 and R347P; I also have 2 mitochondrial mutations, a liver and thyroid problem that may or may not be connected to either diagnosis... (Basically I'm the "odd" one in my clinic!)

 

[Samsmom]

Chrissyd, thanks for that insight. I thought that the enzymes would help the abdorption, I didn't know that they don't always work. I hope that someone somewhere can find out once and for all why my daughter can't gain weight and find a way to help her. Maybe in the future as more mutations are identified we will find out that she does have two mutations. The CF clinic is going to continue to follow her as though she has CF, and the other specialists are going to get another chance to unravel the mystery of Samantha. All I can do is keep looking for answers and that is exactly what I plan to do. What are the mitochondrial mutations? I know what mitichondria are, is this related to the CF or something seperated all together?

 

[Samsmom]

Chrissyd, thanks for that insight. I thought that the enzymes would help the abdorption, I didn't know that they don't always work. I hope that someone somewhere can find out once and for all why my daughter can't gain weight and find a way to help her. Maybe in the future as more mutations are identified we will find out that she does have two mutations. The CF clinic is going to continue to follow her as though she has CF, and the other specialists are going to get another chance to unravel the mystery of Samantha. All I can do is keep looking for answers and that is exactly what I plan to do. What are the mitochondrial mutations? I know what mitichondria are, is this related to the CF or something seperated all together?

 

[Samsmom]

Chrissyd, thanks for that insight. I thought that the enzymes would help the abdorption, I didn't know that they don't always work. I hope that someone somewhere can find out once and for all why my daughter can't gain weight and find a way to help her. Maybe in the future as more mutations are identified we will find out that she does have two mutations. The CF clinic is going to continue to follow her as though she has CF, and the other specialists are going to get another chance to unravel the mystery of Samantha. All I can do is keep looking for answers and that is exactly what I plan to do. What are the mitochondrial mutations? I know what mitichondria are, is this related to the CF or something seperated all together?

 

[Seana30]

Jean,

My daughter, Courtney was diagnosed at the age of 10 with CF. At this point all of her symptoms are digestive, her lungs are in great shape. She has severe absorption problems. She takes 6 enzymes with every meal and she is still severely underweight. She is 14 years old, is 5 feet 3 1/2 inches tall, and only weighs 82 pounds.

She had many (6) sweat tests. Some were borderline, most were high. She also had the full Ambry DNA test and only one mutation was found (DF508).

It was a very long, hard road to finally get her diagnosed. My heart went out to you listening to your story. I remember what a roller coaster ride it was getting a diagnoses.

I don't have any real words of wisdom, but want you to know your family will be in my thoughts!

Take care.

Seana

 

[Seana30]

Jean,

My daughter, Courtney was diagnosed at the age of 10 with CF. At this point all of her symptoms are digestive, her lungs are in great shape. She has severe absorption problems. She takes 6 enzymes with every meal and she is still severely underweight. She is 14 years old, is 5 feet 3 1/2 inches tall, and only weighs 82 pounds.

She had many (6) sweat tests. Some were borderline, most were high. She also had the full Ambry DNA test and only one mutation was found (DF508).

It was a very long, hard road to finally get her diagnosed. My heart went out to you listening to your story. I remember what a roller coaster ride it was getting a diagnoses.

I don't have any real words of wisdom, but want you to know your family will be in my thoughts!

Take care.

Seana

 

[Seana30]

Jean,

My daughter, Courtney was diagnosed at the age of 10 with CF. At this point all of her symptoms are digestive, her lungs are in great shape. She has severe absorption problems. She takes 6 enzymes with every meal and she is still severely underweight. She is 14 years old, is 5 feet 3 1/2 inches tall, and only weighs 82 pounds.

She had many (6) sweat tests. Some were borderline, most were high. She also had the full Ambry DNA test and only one mutation was found (DF508).

It was a very long, hard road to finally get her diagnosed. My heart went out to you listening to your story. I remember what a roller coaster ride it was getting a diagnoses.

I don't have any real words of wisdom, but want you to know your family will be in my thoughts!

Take care.

Seana

 

[Samsmom]

Seana, Thanks for the post. I was unaware that a diagnosis could be made with only one mutation. My daughter will be 14 in July, is 55 inches tall and weighs only 60 lbs. Has your daughter ever been looked at for other possible causes of the malabsorption? I'm just curious what other possibilities are out there. Your daughters are beautiful by the way. Take care

 

[Samsmom]

Seana, Thanks for the post. I was unaware that a diagnosis could be made with only one mutation. My daughter will be 14 in July, is 55 inches tall and weighs only 60 lbs. Has your daughter ever been looked at for other possible causes of the malabsorption? I'm just curious what other possibilities are out there. Your daughters are beautiful by the way. Take care

 

[Samsmom]

Seana, Thanks for the post. I was unaware that a diagnosis could be made with only one mutation. My daughter will be 14 in July, is 55 inches tall and weighs only 60 lbs. Has your daughter ever been looked at for other possible causes of the malabsorption? I'm just curious what other possibilities are out there. Your daughters are beautiful by the way. Take care