Possible CF

Deni

New member
Greetings from Albania, South Europe!

First of all I would like to congratulate you all for your incredible strength, determination and will.

My niece, a beautiful 5 months old girl named Klaudia, was diagnosed yesterday with possible CF.

She hasn't gained the weight she should have so my sister and her husband had her visited. The sweat test didn't come out good. Unfortunately here in mainland Europe we use a different measurement unit to the US. But here test showed 102 units and the average for a healthy child is 0-60. Needless to say we were utterly devastated by the news. I was literally crying like a baby while reading these forums.

Today Kaludia went in for some extra tests. X-ray of the internal organs came out positive. Everything looked normal and the doctor told us it doesn't look like the belly of the affected children. Klaudia had her saliva taken for further tests and upon first inspection, visual ones, the doctors said it was fine and excluded out the possibility for pulmonary fibrosis. Klaudia had a sample of blood taken as well for testing. We were told the final results will be ready by the end of next week (this is going to be one agonizing week).

I explained my sisters some of the symptoms I read in here, so this is a summary of Klaudia's health so far:

Weight:

birth - 3850gr - 8.49 pounds (18th of december 2006)
leaving hospital - 3500gr - 7.72 pounds
3 weeks old - 3350gr - 7.39pounds
1month old - 3650gr - 8.05pounds
2months old - 4450gr - 9.81pounds
3months old - 5005gr - 11.03pounds
4months old - 5450gr - 12.02pounds
5 moths old ~ 5250gr ~ 11.57pounds

Stool:

2 months and a half to 4 months old tummy ache and gases (loud crying)

after about 4 months old no more tummy ache and not crying though stooling was more frequent.

Klaudia is still being breast fed and while feeding she some times has gases. She also sometimes stools but it doesn't have foul smell and is green or yellow in color.

Coughing

She doesn't cough often She caughs when she cries a lot and loud. My sister says Klaudias teeth are coming out so Klaudia tries to tuch that area with her tongue. She coughs sometimes while doing that when her mouth is filled with saliva.

CF is rare in Albania with Klaudia being the possible 71st person diagnosed with it (out of a population of around 3.2 million), but I'm sure there are a lot more people in the rural areas that are suffering from it and maybe they don't know what's causing it. Our medical system is appalling at best. Hospitals are in a condition that even if you're a healthy person you might come out ill from them.

Please help me by giving your thoughts based on your experiences and the symptoms described above, whether Klaudia has potential CF illness or not.

Thank You very much for all you help!

I wish you and your loved ones the best this world has!

Deni
 

Deni

New member
Greetings from Albania, South Europe!

First of all I would like to congratulate you all for your incredible strength, determination and will.

My niece, a beautiful 5 months old girl named Klaudia, was diagnosed yesterday with possible CF.

She hasn't gained the weight she should have so my sister and her husband had her visited. The sweat test didn't come out good. Unfortunately here in mainland Europe we use a different measurement unit to the US. But here test showed 102 units and the average for a healthy child is 0-60. Needless to say we were utterly devastated by the news. I was literally crying like a baby while reading these forums.

Today Kaludia went in for some extra tests. X-ray of the internal organs came out positive. Everything looked normal and the doctor told us it doesn't look like the belly of the affected children. Klaudia had her saliva taken for further tests and upon first inspection, visual ones, the doctors said it was fine and excluded out the possibility for pulmonary fibrosis. Klaudia had a sample of blood taken as well for testing. We were told the final results will be ready by the end of next week (this is going to be one agonizing week).

I explained my sisters some of the symptoms I read in here, so this is a summary of Klaudia's health so far:

Weight:

birth - 3850gr - 8.49 pounds (18th of december 2006)
leaving hospital - 3500gr - 7.72 pounds
3 weeks old - 3350gr - 7.39pounds
1month old - 3650gr - 8.05pounds
2months old - 4450gr - 9.81pounds
3months old - 5005gr - 11.03pounds
4months old - 5450gr - 12.02pounds
5 moths old ~ 5250gr ~ 11.57pounds

Stool:

2 months and a half to 4 months old tummy ache and gases (loud crying)

after about 4 months old no more tummy ache and not crying though stooling was more frequent.

Klaudia is still being breast fed and while feeding she some times has gases. She also sometimes stools but it doesn't have foul smell and is green or yellow in color.

Coughing

She doesn't cough often She caughs when she cries a lot and loud. My sister says Klaudias teeth are coming out so Klaudia tries to tuch that area with her tongue. She coughs sometimes while doing that when her mouth is filled with saliva.

CF is rare in Albania with Klaudia being the possible 71st person diagnosed with it (out of a population of around 3.2 million), but I'm sure there are a lot more people in the rural areas that are suffering from it and maybe they don't know what's causing it. Our medical system is appalling at best. Hospitals are in a condition that even if you're a healthy person you might come out ill from them.

Please help me by giving your thoughts based on your experiences and the symptoms described above, whether Klaudia has potential CF illness or not.

Thank You very much for all you help!

I wish you and your loved ones the best this world has!

Deni
 

Deni

New member
Greetings from Albania, South Europe!

First of all I would like to congratulate you all for your incredible strength, determination and will.

My niece, a beautiful 5 months old girl named Klaudia, was diagnosed yesterday with possible CF.

She hasn't gained the weight she should have so my sister and her husband had her visited. The sweat test didn't come out good. Unfortunately here in mainland Europe we use a different measurement unit to the US. But here test showed 102 units and the average for a healthy child is 0-60. Needless to say we were utterly devastated by the news. I was literally crying like a baby while reading these forums.

Today Kaludia went in for some extra tests. X-ray of the internal organs came out positive. Everything looked normal and the doctor told us it doesn't look like the belly of the affected children. Klaudia had her saliva taken for further tests and upon first inspection, visual ones, the doctors said it was fine and excluded out the possibility for pulmonary fibrosis. Klaudia had a sample of blood taken as well for testing. We were told the final results will be ready by the end of next week (this is going to be one agonizing week).

I explained my sisters some of the symptoms I read in here, so this is a summary of Klaudia's health so far:

Weight:

birth - 3850gr - 8.49 pounds (18th of december 2006)
leaving hospital - 3500gr - 7.72 pounds
3 weeks old - 3350gr - 7.39pounds
1month old - 3650gr - 8.05pounds
2months old - 4450gr - 9.81pounds
3months old - 5005gr - 11.03pounds
4months old - 5450gr - 12.02pounds
5 moths old ~ 5250gr ~ 11.57pounds

Stool:

2 months and a half to 4 months old tummy ache and gases (loud crying)

after about 4 months old no more tummy ache and not crying though stooling was more frequent.

Klaudia is still being breast fed and while feeding she some times has gases. She also sometimes stools but it doesn't have foul smell and is green or yellow in color.

Coughing

She doesn't cough often She caughs when she cries a lot and loud. My sister says Klaudias teeth are coming out so Klaudia tries to tuch that area with her tongue. She coughs sometimes while doing that when her mouth is filled with saliva.

CF is rare in Albania with Klaudia being the possible 71st person diagnosed with it (out of a population of around 3.2 million), but I'm sure there are a lot more people in the rural areas that are suffering from it and maybe they don't know what's causing it. Our medical system is appalling at best. Hospitals are in a condition that even if you're a healthy person you might come out ill from them.

Please help me by giving your thoughts based on your experiences and the symptoms described above, whether Klaudia has potential CF illness or not.

Thank You very much for all you help!

I wish you and your loved ones the best this world has!

Deni
 

Samsmom

New member
Hi Deni. Welcome to the site. I'm so sorry for all of the stress you must be feeling now. Please take comfort in knowing that others have been where you are and understand how you are feeling right now. CF is not always simple to diagnose. I can't say if I think Klaudia had CF but the tests will tell. The best test for the CF genes is the Ambry full panel, it is the most complete and comprehensive test available. It tests for all known mutations while some other tests only check for the most common mutations. I have never heard of being able to visually examine saliva and tell anything from it about CF, but I'm not a Dr. I hope you get the answers soon and I hope Klaudia is doing well. I will keep you in my prayers as you and your family go through this process. Stay strong and if it is CF, early diagnosis and proper treatment are the keys to a healthy baby. Best wishes.
 

Samsmom

New member
Hi Deni. Welcome to the site. I'm so sorry for all of the stress you must be feeling now. Please take comfort in knowing that others have been where you are and understand how you are feeling right now. CF is not always simple to diagnose. I can't say if I think Klaudia had CF but the tests will tell. The best test for the CF genes is the Ambry full panel, it is the most complete and comprehensive test available. It tests for all known mutations while some other tests only check for the most common mutations. I have never heard of being able to visually examine saliva and tell anything from it about CF, but I'm not a Dr. I hope you get the answers soon and I hope Klaudia is doing well. I will keep you in my prayers as you and your family go through this process. Stay strong and if it is CF, early diagnosis and proper treatment are the keys to a healthy baby. Best wishes.
 

Samsmom

New member
Hi Deni. Welcome to the site. I'm so sorry for all of the stress you must be feeling now. Please take comfort in knowing that others have been where you are and understand how you are feeling right now. CF is not always simple to diagnose. I can't say if I think Klaudia had CF but the tests will tell. The best test for the CF genes is the Ambry full panel, it is the most complete and comprehensive test available. It tests for all known mutations while some other tests only check for the most common mutations. I have never heard of being able to visually examine saliva and tell anything from it about CF, but I'm not a Dr. I hope you get the answers soon and I hope Klaudia is doing well. I will keep you in my prayers as you and your family go through this process. Stay strong and if it is CF, early diagnosis and proper treatment are the keys to a healthy baby. Best wishes.
 

Deni

New member
Hi Samsmom!

Thank you for your reply. Is Ambry this company?

They say that the blood sample can stay maximum 2 day at room temps. I live in Europe so I don't think there's anyway I can send my niece's blood sample to them withing 2 days.

When we receive the results from the Albanian laboratory Klaudia and her parents are going in an other country to repeat these tests to be 100% sure of her condition.

I forgot to add above in the symptoms that Klaudia has never been ill so far. She has never had high temperature or any respiratory illness what so ever. Even now she's doing fine.

Thanks for all your help!

Deni
 

Deni

New member
Hi Samsmom!

Thank you for your reply. Is Ambry this company?

They say that the blood sample can stay maximum 2 day at room temps. I live in Europe so I don't think there's anyway I can send my niece's blood sample to them withing 2 days.

When we receive the results from the Albanian laboratory Klaudia and her parents are going in an other country to repeat these tests to be 100% sure of her condition.

I forgot to add above in the symptoms that Klaudia has never been ill so far. She has never had high temperature or any respiratory illness what so ever. Even now she's doing fine.

Thanks for all your help!

Deni
 

Deni

New member
Hi Samsmom!

Thank you for your reply. Is Ambry this company?

They say that the blood sample can stay maximum 2 day at room temps. I live in Europe so I don't think there's anyway I can send my niece's blood sample to them withing 2 days.

When we receive the results from the Albanian laboratory Klaudia and her parents are going in an other country to repeat these tests to be 100% sure of her condition.

I forgot to add above in the symptoms that Klaudia has never been ill so far. She has never had high temperature or any respiratory illness what so ever. Even now she's doing fine.

Thanks for all your help!

Deni
 

Deni

New member
I need to add:

Klaudia is still being breast fed and she drinks often. My sister told me that until she was 4 months old she was being fed on certain times of the day. Now she's being fed more often without any "time table". My sis also told me that she started weighting Klaudia before and after she drinks and found out that she drinks very little (around 40-50 gr per time). My sis told me children often drink around 150gr. Maybe this continuous drinking without a regime has upset her feeding behavior so she drinks too little and this might explain the weight loss.
 

Deni

New member
I need to add:

Klaudia is still being breast fed and she drinks often. My sister told me that until she was 4 months old she was being fed on certain times of the day. Now she's being fed more often without any "time table". My sis also told me that she started weighting Klaudia before and after she drinks and found out that she drinks very little (around 40-50 gr per time). My sis told me children often drink around 150gr. Maybe this continuous drinking without a regime has upset her feeding behavior so she drinks too little and this might explain the weight loss.
 

Deni

New member
I need to add:

Klaudia is still being breast fed and she drinks often. My sister told me that until she was 4 months old she was being fed on certain times of the day. Now she's being fed more often without any "time table". My sis also told me that she started weighting Klaudia before and after she drinks and found out that she drinks very little (around 40-50 gr per time). My sis told me children often drink around 150gr. Maybe this continuous drinking without a regime has upset her feeding behavior so she drinks too little and this might explain the weight loss.
 

okok

New member
Has she looked into possible issues with her milk supply?? I know scheduled feedings can negatively impact milk supply and usually around 4 months there is a drop in supply as your body begins to make ony as much milk as baby drink without excess. Otherwise i think it is great she is still breastfed and good luck!
 

okok

New member
Has she looked into possible issues with her milk supply?? I know scheduled feedings can negatively impact milk supply and usually around 4 months there is a drop in supply as your body begins to make ony as much milk as baby drink without excess. Otherwise i think it is great she is still breastfed and good luck!
 

okok

New member
Has she looked into possible issues with her milk supply?? I know scheduled feedings can negatively impact milk supply and usually around 4 months there is a drop in supply as your body begins to make ony as much milk as baby drink without excess. Otherwise i think it is great she is still breastfed and good luck!
 

Samsmom

New member
Hey Deni. If you look at the top of this page there is an icon for Ambry genetics. Click on it and it will take you to their site and it is filled with all the information you need including contact info. Klaudia's parents are wise to seek a second opinion on the tests. Good luck to you all and keep us posted with updates!<img src="i/expressions/face-icon-small-happy.gif" border="0">
 

Samsmom

New member
Hey Deni. If you look at the top of this page there is an icon for Ambry genetics. Click on it and it will take you to their site and it is filled with all the information you need including contact info. Klaudia's parents are wise to seek a second opinion on the tests. Good luck to you all and keep us posted with updates!<img src="i/expressions/face-icon-small-happy.gif" border="0">
 

Samsmom

New member
Hey Deni. If you look at the top of this page there is an icon for Ambry genetics. Click on it and it will take you to their site and it is filled with all the information you need including contact info. Klaudia's parents are wise to seek a second opinion on the tests. Good luck to you all and keep us posted with updates!<img src="i/expressions/face-icon-small-happy.gif" border="0">
 

Deni

New member
We got Klaudia's saliva tests results today and they were fine. Waiting for the blood tests' results.

In the mean time Klaudia will be fed every 3 hours. During her 4th to 5th month she was fed whenever she cried. I read that the sweat test may come out high if the person is malnutritioned or/and dehydrated. Klaudia is both since so far her parents have relied only on breast milk for feeding and hydrating.

Thank you for reading.

Deni
 

Deni

New member
We got Klaudia's saliva tests results today and they were fine. Waiting for the blood tests' results.

In the mean time Klaudia will be fed every 3 hours. During her 4th to 5th month she was fed whenever she cried. I read that the sweat test may come out high if the person is malnutritioned or/and dehydrated. Klaudia is both since so far her parents have relied only on breast milk for feeding and hydrating.

Thank you for reading.

Deni
 
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