Our story..need all the help we can get

[MyBabyCeline]

Hi all,

First of all let me apologize for the long post. I'm new here and this is my first time writing, but to be honest I've been lurking around for a couple of weeks now and I've seen how a great community you are and what a good source of support this website is, and when my daughter's diagnosis got confirmed I decided to register and be a part of this big family.

I will start by introducing myself. My name is Hana, I'm from Jordan (in the middle east) and english is actually my second language, so please excuse any mistakes that I might make. My daughter was born on 12/20/2010 a beautiful healthy little girl and my husband and I were the happiest couple on earth, until we got the newborn screening results back and they showed a high level of IRT. We were worried, but got reassured by our pediatrician that those results meant nothing and that false positives were common. So we repeated the test and completely freaked out when it came back positive again. Long story short, we did a series of other tests and they all came back positive, 2 sweat tests (66 and 70) and a CFTR sequencing that showed 2 mutations (2183aa>g and F693L).

We're still going through waves of emotion, from shock to disbelief, denial, depression and finally acceptance, then it starts all over again and we're back to shock and disbelief.

We get really scared when we think that CF is a very rare disease in our region, and that there are no specialized centers in our country to take care of patients with CF. We have seen a pediatric gastroenterologist and a pediatric pulmonologist to evaluate our daughter's condition and they both said that she's doing well and that there are no symptoms. The pulmonologist recommended that we start doing CPT which we did. But the lack of CF specialists and centers in our country keeps us in doubt and fear for her health.

I'm sorry again for dragging on but I would really appreciate any advice you might have for me, like what should we do now? Is there anything besides CPT that should be done when there are no symptoms? What was the first thing you did when you or your loved one got diagnosed? Especially if there were no symptoms.

Thank you for listnening to my story and I really look forward to hearing your answers and advice. It's really a big relief to find such a supportive community where we can share our thoughts and benefit from each other's experiences.

 

[MyBabyCeline]

Hi all,

First of all let me apologize for the long post. I'm new here and this is my first time writing, but to be honest I've been lurking around for a couple of weeks now and I've seen how a great community you are and what a good source of support this website is, and when my daughter's diagnosis got confirmed I decided to register and be a part of this big family.

I will start by introducing myself. My name is Hana, I'm from Jordan (in the middle east) and english is actually my second language, so please excuse any mistakes that I might make. My daughter was born on 12/20/2010 a beautiful healthy little girl and my husband and I were the happiest couple on earth, until we got the newborn screening results back and they showed a high level of IRT. We were worried, but got reassured by our pediatrician that those results meant nothing and that false positives were common. So we repeated the test and completely freaked out when it came back positive again. Long story short, we did a series of other tests and they all came back positive, 2 sweat tests (66 and 70) and a CFTR sequencing that showed 2 mutations (2183aa>g and F693L).

We're still going through waves of emotion, from shock to disbelief, denial, depression and finally acceptance, then it starts all over again and we're back to shock and disbelief.

We get really scared when we think that CF is a very rare disease in our region, and that there are no specialized centers in our country to take care of patients with CF. We have seen a pediatric gastroenterologist and a pediatric pulmonologist to evaluate our daughter's condition and they both said that she's doing well and that there are no symptoms. The pulmonologist recommended that we start doing CPT which we did. But the lack of CF specialists and centers in our country keeps us in doubt and fear for her health.

I'm sorry again for dragging on but I would really appreciate any advice you might have for me, like what should we do now? Is there anything besides CPT that should be done when there are no symptoms? What was the first thing you did when you or your loved one got diagnosed? Especially if there were no symptoms.

Thank you for listnening to my story and I really look forward to hearing your answers and advice. It's really a big relief to find such a supportive community where we can share our thoughts and benefit from each other's experiences.

 

[MyBabyCeline]

Hi all,
<br />
<br />First of all let me apologize for the long post. I'm new here and this is my first time writing, but to be honest I've been lurking around for a couple of weeks now and I've seen how a great community you are and what a good source of support this website is, and when my daughter's diagnosis got confirmed I decided to register and be a part of this big family.
<br />
<br />I will start by introducing myself. My name is Hana, I'm from Jordan (in the middle east) and english is actually my second language, so please excuse any mistakes that I might make. My daughter was born on 12/20/2010 a beautiful healthy little girl and my husband and I were the happiest couple on earth, until we got the newborn screening results back and they showed a high level of IRT. We were worried, but got reassured by our pediatrician that those results meant nothing and that false positives were common. So we repeated the test and completely freaked out when it came back positive again. Long story short, we did a series of other tests and they all came back positive, 2 sweat tests (66 and 70) and a CFTR sequencing that showed 2 mutations (2183aa>g and F693L).
<br />
<br />We're still going through waves of emotion, from shock to disbelief, denial, depression and finally acceptance, then it starts all over again and we're back to shock and disbelief.
<br />
<br />We get really scared when we think that CF is a very rare disease in our region, and that there are no specialized centers in our country to take care of patients with CF. We have seen a pediatric gastroenterologist and a pediatric pulmonologist to evaluate our daughter's condition and they both said that she's doing well and that there are no symptoms. The pulmonologist recommended that we start doing CPT which we did. But the lack of CF specialists and centers in our country keeps us in doubt and fear for her health.
<br />
<br />I'm sorry again for dragging on but I would really appreciate any advice you might have for me, like what should we do now? Is there anything besides CPT that should be done when there are no symptoms? What was the first thing you did when you or your loved one got diagnosed? Especially if there were no symptoms.
<br />
<br />Thank you for listnening to my story and I really look forward to hearing your answers and advice. It's really a big relief to find such a supportive community where we can share our thoughts and benefit from each other's experiences.
<br />
<br />

 

[Ratatosk]

I'm so sorry! Hopefully we're able to answer any questions you may have. When our son was diagnosed it was a huge shock. He was diagnosed shortly after he was born because of digestive issues. He was born with a bowel obstruction and needed surgery. We were in disbelief, heartbroken, and frightened about what the future held. Today he's an active 7 year old -- goes to school, participates in various sports...

CPT is a great start. Keeping her lungs healthy. Does she have any digestive issues, is she pancreatic sufficient?

IMO, good nutrition, vitamins...

 

[Ratatosk]

I'm so sorry! Hopefully we're able to answer any questions you may have. When our son was diagnosed it was a huge shock. He was diagnosed shortly after he was born because of digestive issues. He was born with a bowel obstruction and needed surgery. We were in disbelief, heartbroken, and frightened about what the future held. Today he's an active 7 year old -- goes to school, participates in various sports...

CPT is a great start. Keeping her lungs healthy. Does she have any digestive issues, is she pancreatic sufficient?

IMO, good nutrition, vitamins...

 

[Ratatosk]

I'm so sorry! Hopefully we're able to answer any questions you may have. When our son was diagnosed it was a huge shock. He was diagnosed shortly after he was born because of digestive issues. He was born with a bowel obstruction and needed surgery. We were in disbelief, heartbroken, and frightened about what the future held. Today he's an active 7 year old -- goes to school, participates in various sports...
<br />
<br />CPT is a great start. Keeping her lungs healthy. Does she have any digestive issues, is she pancreatic sufficient?
<br />
<br />IMO, good nutrition, vitamins...

 

[MyBabyCeline]

Thank you for your quick reply. We're still not sure whether she's pancreatic sufficient or not. She doesn't have diarrhea but her stool started smelling a little soury recently. I asked the doctor to do a fecal fat test but he said it would not really help us decide and that it would set us more off track than really help us..what do you think? He did however ask for CBC, a regular stool analysis, PT, PTT, SGOT, SGPT and TSB (which I think all indicate liver function because he thought she looked a little yellow (jaundice)). I forgot to mention that we already started giving her adek vitamins.
What exactly should be done to decide whether she's PS or PI? I was told by the dr that since she's exclusively breastfed then we shouldn't worry about her pancreatic function, not until she starts on solids which shouldn't be before she's 6 months old, how true is that?

 

[MyBabyCeline]

Thank you for your quick reply. We're still not sure whether she's pancreatic sufficient or not. She doesn't have diarrhea but her stool started smelling a little soury recently. I asked the doctor to do a fecal fat test but he said it would not really help us decide and that it would set us more off track than really help us..what do you think? He did however ask for CBC, a regular stool analysis, PT, PTT, SGOT, SGPT and TSB (which I think all indicate liver function because he thought she looked a little yellow (jaundice)). I forgot to mention that we already started giving her adek vitamins.
What exactly should be done to decide whether she's PS or PI? I was told by the dr that since she's exclusively breastfed then we shouldn't worry about her pancreatic function, not until she starts on solids which shouldn't be before she's 6 months old, how true is that?

 

[MyBabyCeline]

Thank you for your quick reply. We're still not sure whether she's pancreatic sufficient or not. She doesn't have diarrhea but her stool started smelling a little soury recently. I asked the doctor to do a fecal fat test but he said it would not really help us decide and that it would set us more off track than really help us..what do you think? He did however ask for CBC, a regular stool analysis, PT, PTT, SGOT, SGPT and TSB (which I think all indicate liver function because he thought she looked a little yellow (jaundice)). I forgot to mention that we already started giving her adek vitamins.
<br />What exactly should be done to decide whether she's PS or PI? I was told by the dr that since she's exclusively breastfed then we shouldn't worry about her pancreatic function, not until she starts on solids which shouldn't be before she's 6 months old, how true is that?

 

[Ratatosk]

DS is very PI, so he required digestive enzymes and was formula fed. While BM is easier to digest, it's my understanding that enzymes still may be necessary if PI. I seem to recall Rebjane having to give Maggie enzymes during feedings.

Loose, frequent, sometimes bulky stools can be a symptom. DS' weren't oily or greasy, but were frequent and were soft, almost like a cake frosting.

Failure to thrive. It's important for lung function that people wcf try to maintain a healthy weight. We struggle at keeping DS at the 50th percentile.

DS did have a fecal fat test, but we already knew he was PI due to his obstruction.

 

[Ratatosk]

DS is very PI, so he required digestive enzymes and was formula fed. While BM is easier to digest, it's my understanding that enzymes still may be necessary if PI. I seem to recall Rebjane having to give Maggie enzymes during feedings.

Loose, frequent, sometimes bulky stools can be a symptom. DS' weren't oily or greasy, but were frequent and were soft, almost like a cake frosting.

Failure to thrive. It's important for lung function that people wcf try to maintain a healthy weight. We struggle at keeping DS at the 50th percentile.

DS did have a fecal fat test, but we already knew he was PI due to his obstruction.

 

[Ratatosk]

DS is very PI, so he required digestive enzymes and was formula fed. While BM is easier to digest, it's my understanding that enzymes still may be necessary if PI. I seem to recall Rebjane having to give Maggie enzymes during feedings.
<br />
<br />Loose, frequent, sometimes bulky stools can be a symptom. DS' weren't oily or greasy, but were frequent and were soft, almost like a cake frosting.
<br />
<br />Failure to thrive. It's important for lung function that people wcf try to maintain a healthy weight. We struggle at keeping DS at the 50th percentile.
<br />
<br />DS did have a fecal fat test, but we already knew he was PI due to his obstruction.

 

[NancyLKF]

Hi. Congrats on your daughter!
My daughter was diagnosed with CF through newborn screening as well. She is now two years old and doing great! In fact, this week was the first time she has actually been "sick". She had one runny nose/cold once a few months ago, but this week was her first cold/cough illness.

I would definitely think that the fecal testing should be done. My daughter was breastfed and she needed enzymes to digest and absorb. Even with the enzymes she had some difficulty gaining weight. So if your daughter is PI, she will definitely need enzymes ASAP.

My daughter does CPT, takes aquADEKS, Vitamin D, prevacid and enzymes. She hasn't started any of the other treatments yet, but as you probably know, CF is progressive, so getting the best possible, proactive care is crucial.

It sounds like you are doing everything in your power to get your daughter that care. So welcome to the site and I hope this helped.

 

[NancyLKF]

Hi. Congrats on your daughter!
My daughter was diagnosed with CF through newborn screening as well. She is now two years old and doing great! In fact, this week was the first time she has actually been "sick". She had one runny nose/cold once a few months ago, but this week was her first cold/cough illness.

I would definitely think that the fecal testing should be done. My daughter was breastfed and she needed enzymes to digest and absorb. Even with the enzymes she had some difficulty gaining weight. So if your daughter is PI, she will definitely need enzymes ASAP.

My daughter does CPT, takes aquADEKS, Vitamin D, prevacid and enzymes. She hasn't started any of the other treatments yet, but as you probably know, CF is progressive, so getting the best possible, proactive care is crucial.

It sounds like you are doing everything in your power to get your daughter that care. So welcome to the site and I hope this helped.

 

[NancyLKF]

Hi. Congrats on your daughter!
<br />My daughter was diagnosed with CF through newborn screening as well. She is now two years old and doing great! In fact, this week was the first time she has actually been "sick". She had one runny nose/cold once a few months ago, but this week was her first cold/cough illness.
<br />
<br />I would definitely think that the fecal testing should be done. My daughter was breastfed and she needed enzymes to digest and absorb. Even with the enzymes she had some difficulty gaining weight. So if your daughter is PI, she will definitely need enzymes ASAP.
<br />
<br />My daughter does CPT, takes aquADEKS, Vitamin D, prevacid and enzymes. She hasn't started any of the other treatments yet, but as you probably know, CF is progressive, so getting the best possible, proactive care is crucial.
<br />
<br />It sounds like you are doing everything in your power to get your daughter that care. So welcome to the site and I hope this helped.

 

[AleksandraKaczynska]

Hi, Congratulations on your daughter. Sh is one day older then my second <img src="i/expressions/face-icon-small-happy.gif" border="0">
Try looking up a center on:
<a target=_blank class=ftalternatingbarlinklarge href="http://www.cfww.org/members/
">http://www.cfww.org/members/
</a>Also many people living close to EU come for treating their children to EU. And it can be done - by contacting cf organisations in a specific country ex. Germany or Austria. At least those are best centers considrerd by polish patients - but they are also closest to us.
Maybe they can help ypu reach good specialist closest to where you live. Also - there are good specialists in Israel. You need to have good specialist at hand.

Af far as enzymes - here we do a test from stool for elastaza - Joanna had it done while she was still on breast milk - to cheque if she neede it. also - measure your childs weight regulary - this will tell you quickly if she needs enzymes. For instance nce a week - 2 weeks.
My girl still doesn't have any symptoms and she is 3 years old.
We do CPT, inhaltaions with saline - started at 0,9% NaCl - 2 ml - AquADEK, ( but started with wit. A, D, E, K separate - we had no AquADEK here 3 years ago) - no enzymes.
Hope it will help.

 

[AleksandraKaczynska]

Hi, Congratulations on your daughter. Sh is one day older then my second <img src="i/expressions/face-icon-small-happy.gif" border="0">
Try looking up a center on:
<a target=_blank class=ftalternatingbarlinklarge href="http://www.cfww.org/members/
">http://www.cfww.org/members/
</a>Also many people living close to EU come for treating their children to EU. And it can be done - by contacting cf organisations in a specific country ex. Germany or Austria. At least those are best centers considrerd by polish patients - but they are also closest to us.
Maybe they can help ypu reach good specialist closest to where you live. Also - there are good specialists in Israel. You need to have good specialist at hand.

Af far as enzymes - here we do a test from stool for elastaza - Joanna had it done while she was still on breast milk - to cheque if she neede it. also - measure your childs weight regulary - this will tell you quickly if she needs enzymes. For instance nce a week - 2 weeks.
My girl still doesn't have any symptoms and she is 3 years old.
We do CPT, inhaltaions with saline - started at 0,9% NaCl - 2 ml - AquADEK, ( but started with wit. A, D, E, K separate - we had no AquADEK here 3 years ago) - no enzymes.
Hope it will help.

 

[AleksandraKaczynska]

Hi, Congratulations on your daughter. Sh is one day older then my second <img src="i/expressions/face-icon-small-happy.gif" border="0">
<br />Try looking up a center on:
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.cfww.org/members/
">http://www.cfww.org/members/
</a><br />Also many people living close to EU come for treating their children to EU. And it can be done - by contacting cf organisations in a specific country ex. Germany or Austria. At least those are best centers considrerd by polish patients - but they are also closest to us.
<br />Maybe they can help ypu reach good specialist closest to where you live. Also - there are good specialists in Israel. You need to have good specialist at hand.
<br />
<br />Af far as enzymes - here we do a test from stool for elastaza - Joanna had it done while she was still on breast milk - to cheque if she neede it. also - measure your childs weight regulary - this will tell you quickly if she needs enzymes. For instance nce a week - 2 weeks.
<br />My girl still doesn't have any symptoms and she is 3 years old.
<br /> We do CPT, inhaltaions with saline - started at 0,9% NaCl - 2 ml - AquADEK, ( but started with wit. A, D, E, K separate - we had no AquADEK here 3 years ago) - no enzymes.
<br />Hope it will help.

 

[ymikhale]

Sorry to hear about diagnosis, it is really a very difficult time for every parent. I know it is hard to believe now, but it will get better.

I agree with everything others said regarding treatments, just wanted to pitch in on CF centers. My family lives in Israel and last summer while visiting I took my dd for a second opinion to Hadassah Medical center in Jerusalem. If it is feasible for you, i strongly recommend it. We saw Prof Eitan Kerem, he is world renowned expert in CF and head of the center, he is also very easy to reach by email, i still contact him regularly when i have questions and he responds promptly.

Hope it helps

 

[ymikhale]

Sorry to hear about diagnosis, it is really a very difficult time for every parent. I know it is hard to believe now, but it will get better.

I agree with everything others said regarding treatments, just wanted to pitch in on CF centers. My family lives in Israel and last summer while visiting I took my dd for a second opinion to Hadassah Medical center in Jerusalem. If it is feasible for you, i strongly recommend it. We saw Prof Eitan Kerem, he is world renowned expert in CF and head of the center, he is also very easy to reach by email, i still contact him regularly when i have questions and he responds promptly.

Hope it helps