Amnio diagnosis....now what happens?

Ratatosk

Administrator
Staff member
Ask away... While DS wasn't diagnosed prior to his birth, he does have the same genetic mutation, which usually means pancreatic insufficiency and the need for digestive enzymes.

Today DS is a busy kindergartener, involved in different activities -- gymnastics, tennis, baseball. Was in preschool... Normal kid who just needs a few extra things to keep him healthy.
 

Ratatosk

Administrator
Staff member
Ask away... While DS wasn't diagnosed prior to his birth, he does have the same genetic mutation, which usually means pancreatic insufficiency and the need for digestive enzymes.

Today DS is a busy kindergartener, involved in different activities -- gymnastics, tennis, baseball. Was in preschool... Normal kid who just needs a few extra things to keep him healthy.
 

Ratatosk

Administrator
Staff member
Ask away... While DS wasn't diagnosed prior to his birth, he does have the same genetic mutation, which usually means pancreatic insufficiency and the need for digestive enzymes.

Today DS is a busy kindergartener, involved in different activities -- gymnastics, tennis, baseball. Was in preschool... Normal kid who just needs a few extra things to keep him healthy.
 

Ratatosk

Administrator
Staff member
Ask away... While DS wasn't diagnosed prior to his birth, he does have the same genetic mutation, which usually means pancreatic insufficiency and the need for digestive enzymes.

Today DS is a busy kindergartener, involved in different activities -- gymnastics, tennis, baseball. Was in preschool... Normal kid who just needs a few extra things to keep him healthy.
 

Ratatosk

Administrator
Staff member
Ask away... While DS wasn't diagnosed prior to his birth, he does have the same genetic mutation, which usually means pancreatic insufficiency and the need for digestive enzymes.
<br />
<br />Today DS is a busy kindergartener, involved in different activities -- gymnastics, tennis, baseball. Was in preschool... Normal kid who just needs a few extra things to keep him healthy.
 

petnurse

New member
HI there! I just wanted to give you some of my info because every case is so different. My husband and I also found out we were carriers during our third pregnancy (our first two children are negative). At 14 weeks, we went to th first of many monthly visits to the perinatologist. We declined the amnio each time because we knew we would not terminate and were afraid of a miscarriage. The ultrasounds never showed any problems, and our baby was born a healthy 9 lbs9 oz! He did not have any type of bowel obstruction. Newborn screening came back positive. We had that test (IRT levels) repeated. It was higher. So, we made the appt at th CF center where they did the sweat test. It was positive. We went back the following week where the repeated the sweat test (to b sure), did a throat culture and took a stool sample. We have been bck nealy every week. They give us something new to do each week, I would assume so we don't get overwhelmed. At 6 weeks old, we started the enzymes which we giv in applesauce before every meal. Lst week, we started to add salt to his milk. We also add formula to his breastmilk to increase the calories. Next week, they will do a chest xray and we will learn the chest physiotherapy. Our baby is a DF508 baby and has had pretty much no problems other tha acid reflux. Everything we are doing is preventative at this point. So, keep the faith. Your baby may not show symptoms even with this mutation! Good luck with everything!
 

petnurse

New member
HI there! I just wanted to give you some of my info because every case is so different. My husband and I also found out we were carriers during our third pregnancy (our first two children are negative). At 14 weeks, we went to th first of many monthly visits to the perinatologist. We declined the amnio each time because we knew we would not terminate and were afraid of a miscarriage. The ultrasounds never showed any problems, and our baby was born a healthy 9 lbs9 oz! He did not have any type of bowel obstruction. Newborn screening came back positive. We had that test (IRT levels) repeated. It was higher. So, we made the appt at th CF center where they did the sweat test. It was positive. We went back the following week where the repeated the sweat test (to b sure), did a throat culture and took a stool sample. We have been bck nealy every week. They give us something new to do each week, I would assume so we don't get overwhelmed. At 6 weeks old, we started the enzymes which we giv in applesauce before every meal. Lst week, we started to add salt to his milk. We also add formula to his breastmilk to increase the calories. Next week, they will do a chest xray and we will learn the chest physiotherapy. Our baby is a DF508 baby and has had pretty much no problems other tha acid reflux. Everything we are doing is preventative at this point. So, keep the faith. Your baby may not show symptoms even with this mutation! Good luck with everything!
 

petnurse

New member
HI there! I just wanted to give you some of my info because every case is so different. My husband and I also found out we were carriers during our third pregnancy (our first two children are negative). At 14 weeks, we went to th first of many monthly visits to the perinatologist. We declined the amnio each time because we knew we would not terminate and were afraid of a miscarriage. The ultrasounds never showed any problems, and our baby was born a healthy 9 lbs9 oz! He did not have any type of bowel obstruction. Newborn screening came back positive. We had that test (IRT levels) repeated. It was higher. So, we made the appt at th CF center where they did the sweat test. It was positive. We went back the following week where the repeated the sweat test (to b sure), did a throat culture and took a stool sample. We have been bck nealy every week. They give us something new to do each week, I would assume so we don't get overwhelmed. At 6 weeks old, we started the enzymes which we giv in applesauce before every meal. Lst week, we started to add salt to his milk. We also add formula to his breastmilk to increase the calories. Next week, they will do a chest xray and we will learn the chest physiotherapy. Our baby is a DF508 baby and has had pretty much no problems other tha acid reflux. Everything we are doing is preventative at this point. So, keep the faith. Your baby may not show symptoms even with this mutation! Good luck with everything!
 

petnurse

New member
HI there! I just wanted to give you some of my info because every case is so different. My husband and I also found out we were carriers during our third pregnancy (our first two children are negative). At 14 weeks, we went to th first of many monthly visits to the perinatologist. We declined the amnio each time because we knew we would not terminate and were afraid of a miscarriage. The ultrasounds never showed any problems, and our baby was born a healthy 9 lbs9 oz! He did not have any type of bowel obstruction. Newborn screening came back positive. We had that test (IRT levels) repeated. It was higher. So, we made the appt at th CF center where they did the sweat test. It was positive. We went back the following week where the repeated the sweat test (to b sure), did a throat culture and took a stool sample. We have been bck nealy every week. They give us something new to do each week, I would assume so we don't get overwhelmed. At 6 weeks old, we started the enzymes which we giv in applesauce before every meal. Lst week, we started to add salt to his milk. We also add formula to his breastmilk to increase the calories. Next week, they will do a chest xray and we will learn the chest physiotherapy. Our baby is a DF508 baby and has had pretty much no problems other tha acid reflux. Everything we are doing is preventative at this point. So, keep the faith. Your baby may not show symptoms even with this mutation! Good luck with everything!
 

petnurse

New member
HI there! I just wanted to give you some of my info because every case is so different. My husband and I also found out we were carriers during our third pregnancy (our first two children are negative). At 14 weeks, we went to th first of many monthly visits to the perinatologist. We declined the amnio each time because we knew we would not terminate and were afraid of a miscarriage. The ultrasounds never showed any problems, and our baby was born a healthy 9 lbs9 oz! He did not have any type of bowel obstruction. Newborn screening came back positive. We had that test (IRT levels) repeated. It was higher. So, we made the appt at th CF center where they did the sweat test. It was positive. We went back the following week where the repeated the sweat test (to b sure), did a throat culture and took a stool sample. We have been bck nealy every week. They give us something new to do each week, I would assume so we don't get overwhelmed. At 6 weeks old, we started the enzymes which we giv in applesauce before every meal. Lst week, we started to add salt to his milk. We also add formula to his breastmilk to increase the calories. Next week, they will do a chest xray and we will learn the chest physiotherapy. Our baby is a DF508 baby and has had pretty much no problems other tha acid reflux. Everything we are doing is preventative at this point. So, keep the faith. Your baby may not show symptoms even with this mutation! Good luck with everything!
 

2boysmom

New member
My son is a DD 508. He was diagnosed at 7 weeks (through DNA Newborn Screening). We had no idea we were even carriers. so far although we went through some scary moments in accepting the diagnosis, our son is happy and vibrant. He is the sweetest, cutest and most fun baby next to his brother. He has had no problems eating or pooping. He was fine at birth. We were convinced it was a false positive because he was so healthy. But alas, he has the disease and is a DD508 which we were told was the "worst."

Choosing a great CF center is key - they will get you set up and started on that which you will need. With the 508s you should expect to use enzymes for pancreatic insufficiency, to preform airway clearance and CPT (chest percussion therapy) 2 X a day, use vitamins and salt. We are blessed to have great care. This disease is a big deal, but for us, the acceptance hump was the hard part. The treatments are easy and just part of our life. We haven't had any problems. Like someone else said, every case is different. Even the DD508s have a huge range of affect.

It is amazing to learn more about it. Our one area of concern is that our little guy is small so we are making an extra effort to keep him fat and healthy. We can manage this and so can you.

I hope you have a successful and promising U/S - ours showed nothing, no sign of CF (bowels). We would never have known if it weren't for DNA screening (thank goodness for that!)

Oh and we are right there with you reading everything we can about the cell/ mutation and corrective CF research.
Science Daily has some great articles. It is exciting... but one small warning (I am only sharing through my very short experience) it is going to take a while and we have some time provided we do everything we can to keep our children 100% healthy so that once they tackle the 508s they will be a candidate for treatment.

It can be a manageable disease. We are all stronger for the experience.

Strength and wishes for an amazing pregnancy. Your daughter is in very good company.
 

2boysmom

New member
My son is a DD 508. He was diagnosed at 7 weeks (through DNA Newborn Screening). We had no idea we were even carriers. so far although we went through some scary moments in accepting the diagnosis, our son is happy and vibrant. He is the sweetest, cutest and most fun baby next to his brother. He has had no problems eating or pooping. He was fine at birth. We were convinced it was a false positive because he was so healthy. But alas, he has the disease and is a DD508 which we were told was the "worst."

Choosing a great CF center is key - they will get you set up and started on that which you will need. With the 508s you should expect to use enzymes for pancreatic insufficiency, to preform airway clearance and CPT (chest percussion therapy) 2 X a day, use vitamins and salt. We are blessed to have great care. This disease is a big deal, but for us, the acceptance hump was the hard part. The treatments are easy and just part of our life. We haven't had any problems. Like someone else said, every case is different. Even the DD508s have a huge range of affect.

It is amazing to learn more about it. Our one area of concern is that our little guy is small so we are making an extra effort to keep him fat and healthy. We can manage this and so can you.

I hope you have a successful and promising U/S - ours showed nothing, no sign of CF (bowels). We would never have known if it weren't for DNA screening (thank goodness for that!)

Oh and we are right there with you reading everything we can about the cell/ mutation and corrective CF research.
Science Daily has some great articles. It is exciting... but one small warning (I am only sharing through my very short experience) it is going to take a while and we have some time provided we do everything we can to keep our children 100% healthy so that once they tackle the 508s they will be a candidate for treatment.

It can be a manageable disease. We are all stronger for the experience.

Strength and wishes for an amazing pregnancy. Your daughter is in very good company.
 

2boysmom

New member
My son is a DD 508. He was diagnosed at 7 weeks (through DNA Newborn Screening). We had no idea we were even carriers. so far although we went through some scary moments in accepting the diagnosis, our son is happy and vibrant. He is the sweetest, cutest and most fun baby next to his brother. He has had no problems eating or pooping. He was fine at birth. We were convinced it was a false positive because he was so healthy. But alas, he has the disease and is a DD508 which we were told was the "worst."

Choosing a great CF center is key - they will get you set up and started on that which you will need. With the 508s you should expect to use enzymes for pancreatic insufficiency, to preform airway clearance and CPT (chest percussion therapy) 2 X a day, use vitamins and salt. We are blessed to have great care. This disease is a big deal, but for us, the acceptance hump was the hard part. The treatments are easy and just part of our life. We haven't had any problems. Like someone else said, every case is different. Even the DD508s have a huge range of affect.

It is amazing to learn more about it. Our one area of concern is that our little guy is small so we are making an extra effort to keep him fat and healthy. We can manage this and so can you.

I hope you have a successful and promising U/S - ours showed nothing, no sign of CF (bowels). We would never have known if it weren't for DNA screening (thank goodness for that!)

Oh and we are right there with you reading everything we can about the cell/ mutation and corrective CF research.
Science Daily has some great articles. It is exciting... but one small warning (I am only sharing through my very short experience) it is going to take a while and we have some time provided we do everything we can to keep our children 100% healthy so that once they tackle the 508s they will be a candidate for treatment.

It can be a manageable disease. We are all stronger for the experience.

Strength and wishes for an amazing pregnancy. Your daughter is in very good company.
 

2boysmom

New member
My son is a DD 508. He was diagnosed at 7 weeks (through DNA Newborn Screening). We had no idea we were even carriers. so far although we went through some scary moments in accepting the diagnosis, our son is happy and vibrant. He is the sweetest, cutest and most fun baby next to his brother. He has had no problems eating or pooping. He was fine at birth. We were convinced it was a false positive because he was so healthy. But alas, he has the disease and is a DD508 which we were told was the "worst."

Choosing a great CF center is key - they will get you set up and started on that which you will need. With the 508s you should expect to use enzymes for pancreatic insufficiency, to preform airway clearance and CPT (chest percussion therapy) 2 X a day, use vitamins and salt. We are blessed to have great care. This disease is a big deal, but for us, the acceptance hump was the hard part. The treatments are easy and just part of our life. We haven't had any problems. Like someone else said, every case is different. Even the DD508s have a huge range of affect.

It is amazing to learn more about it. Our one area of concern is that our little guy is small so we are making an extra effort to keep him fat and healthy. We can manage this and so can you.

I hope you have a successful and promising U/S - ours showed nothing, no sign of CF (bowels). We would never have known if it weren't for DNA screening (thank goodness for that!)

Oh and we are right there with you reading everything we can about the cell/ mutation and corrective CF research.
Science Daily has some great articles. It is exciting... but one small warning (I am only sharing through my very short experience) it is going to take a while and we have some time provided we do everything we can to keep our children 100% healthy so that once they tackle the 508s they will be a candidate for treatment.

It can be a manageable disease. We are all stronger for the experience.

Strength and wishes for an amazing pregnancy. Your daughter is in very good company.
 

2boysmom

New member
My son is a DD 508. He was diagnosed at 7 weeks (through DNA Newborn Screening). We had no idea we were even carriers. so far although we went through some scary moments in accepting the diagnosis, our son is happy and vibrant. He is the sweetest, cutest and most fun baby next to his brother. He has had no problems eating or pooping. He was fine at birth. We were convinced it was a false positive because he was so healthy. But alas, he has the disease and is a DD508 which we were told was the "worst."
<br />
<br />Choosing a great CF center is key - they will get you set up and started on that which you will need. With the 508s you should expect to use enzymes for pancreatic insufficiency, to preform airway clearance and CPT (chest percussion therapy) 2 X a day, use vitamins and salt. We are blessed to have great care. This disease is a big deal, but for us, the acceptance hump was the hard part. The treatments are easy and just part of our life. We haven't had any problems. Like someone else said, every case is different. Even the DD508s have a huge range of affect.
<br />
<br />It is amazing to learn more about it. Our one area of concern is that our little guy is small so we are making an extra effort to keep him fat and healthy. We can manage this and so can you.
<br />
<br />I hope you have a successful and promising U/S - ours showed nothing, no sign of CF (bowels). We would never have known if it weren't for DNA screening (thank goodness for that!)
<br />
<br />Oh and we are right there with you reading everything we can about the cell/ mutation and corrective CF research.
<br />Science Daily has some great articles. It is exciting... but one small warning (I am only sharing through my very short experience) it is going to take a while and we have some time provided we do everything we can to keep our children 100% healthy so that once they tackle the 508s they will be a candidate for treatment.
<br />
<br />It can be a manageable disease. We are all stronger for the experience.
<br />
<br />Strength and wishes for an amazing pregnancy. Your daughter is in very good company.
 
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