Clueless/Scared Mommy :/

Hello. My name is Lori. I am a sahm to 26 months old GBG triplets - Julie, Charles and Lily. I apologize in advance as I'm sure this will be lengthy. My kids were born at just 31 weeks gestation. All of them required NICU time right away. At 3 days old my son (who only weighed 3lbs7oz) was dx with a CHD - Aortic Stenosis with Bicuspid Aortic Valve. He has had 2 heart procedures - the first at 7 days old, a carotid angioplasty to fix the stenosis and open up the valve... between his first and second procedures as he grew his artery and valve tore more creating back follow of blood into the heart... the second procedure was completed at 4 mos old, an open heart procedurecalled the Ross-Konno procedure. They took Charles pulmonary valve and put it in place of his aorticvalve and put a conduitin place of the pulmonaryvalve.He willoutgrow the conduit and will always have a heart condition and need to be observed my his cardiology team and will have to have more open heart prodecures in the future.They also found out that his valve was infected and had to be on antibiotics for 28 days through a broviac inpatient. He since has good reports from the cardiologist. After having his open heart at 4 months, he was very difficult to feed, which I was told was common in young heart patients. He also developed reflux, or so it was dx. He was on prevacidand zantac. His dosing got to be too high that the pediatrician referred us to a GI doc. She followed him from there. He became FTT. I really don't know what my husband and I were ever thinking by staying at that office for as long as we did, but it was almost a year and half of being told... we need to get him to eat more, higher fat food, he isn't drinking enough, etc. Finally, she suggested an endoscopy to investigate reflux as she stated. As soon as she suggested that it be done in an outpatient facility I ran. He is a cardiac patient, he needs cardiac anesthesia. It was an invitation to leave and go to duPont, where Charles' cardiology team is. We got our second opinion at duPont and the first thing he did was test his stool, which one of the test came back abnormally low for pancreatic enzymes. He then had reason to do the endoscopy. We got the results back on 1/12/12 and Charles has abnormally low enzymes for stratch, protein and fat. He is 26 mos and only 23 lbs and 32 in. He was put on creon, I don't have the exact info infront of me, but it is 3-4 capsules a day. 1/12/12 he had labs completed to test for CF and Shwachman-Diamond Syndrome. Today, 2/13/12 we got the results for the CF and he has 1 mutation, CFTR and his is at thevery least acarrier. I hope I'm writing this correctly. I don't completely understand any of it. He said his mutation is extremely rare. He is now scheduled for a sweat test on the 21st. It took a whole month for the results to come back and the other results still aren't in. I don't know what to do or think. I have spent the entire night trying to figure out what my boy could have ahead of him and thankfully found this site. I'm not really sure if there is a question here or just an introduction. Thanks, Lori <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
Hello. My name is Lori. I am a sahm to 26 months old GBG triplets - Julie, Charles and Lily. I apologize in advance as I'm sure this will be lengthy. My kids were born at just 31 weeks gestation. All of them required NICU time right away. At 3 days old my son (who only weighed 3lbs7oz) was dx with a CHD - Aortic Stenosis with Bicuspid Aortic Valve. He has had 2 heart procedures - the first at 7 days old, a carotid angioplasty to fix the stenosis and open up the valve... between his first and second procedures as he grew his artery and valve tore more creating back follow of blood into the heart... the second procedure was completed at 4 mos old, an open heart procedurecalled the Ross-Konno procedure. They took Charles pulmonary valve and put it in place of his aorticvalve and put a conduitin place of the pulmonaryvalve.He willoutgrow the conduit and will always have a heart condition and need to be observed my his cardiology team and will have to have more open heart prodecures in the future.They also found out that his valve was infected and had to be on antibiotics for 28 days through a broviac inpatient. He since has good reports from the cardiologist. After having his open heart at 4 months, he was very difficult to feed, which I was told was common in young heart patients. He also developed reflux, or so it was dx. He was on prevacidand zantac. His dosing got to be too high that the pediatrician referred us to a GI doc. She followed him from there. He became FTT. I really don't know what my husband and I were ever thinking by staying at that office for as long as we did, but it was almost a year and half of being told... we need to get him to eat more, higher fat food, he isn't drinking enough, etc. Finally, she suggested an endoscopy to investigate reflux as she stated. As soon as she suggested that it be done in an outpatient facility I ran. He is a cardiac patient, he needs cardiac anesthesia. It was an invitation to leave and go to duPont, where Charles' cardiology team is. We got our second opinion at duPont and the first thing he did was test his stool, which one of the test came back abnormally low for pancreatic enzymes. He then had reason to do the endoscopy. We got the results back on 1/12/12 and Charles has abnormally low enzymes for stratch, protein and fat. He is 26 mos and only 23 lbs and 32 in. He was put on creon, I don't have the exact info infront of me, but it is 3-4 capsules a day. 1/12/12 he had labs completed to test for CF and Shwachman-Diamond Syndrome. Today, 2/13/12 we got the results for the CF and he has 1 mutation, CFTR and his is at thevery least acarrier. I hope I'm writing this correctly. I don't completely understand any of it. He said his mutation is extremely rare. He is now scheduled for a sweat test on the 21st. It took a whole month for the results to come back and the other results still aren't in. I don't know what to do or think. I have spent the entire night trying to figure out what my boy could have ahead of him and thankfully found this site. I'm not really sure if there is a question here or just an introduction. Thanks, Lori <img src="i/expressions/face-icon-small-smile.gif" border="0">
 

kitomd21

New member
Hello, Lori. Very nice to meet you. Wow! Three wonderful little ones! I'm sorry Charles has already been through so much...but thank God for modern medicine! With close monitoring and the ever-evolving world of medicine, he's very fortunate! <img src="i/expressions/face-icon-small-smile.gif" border="0">

Regarding CF - I believe you stated that they've identified one CFTR mutation. There are at least 1200 mutations for the CFTR gene (I'm not sure what number they're actually at these days!). The most common mutation is delta508. Because they are concerned about his pancreatic values and identification of one mutation, they are trying to rule out another less common mutation in order to diagnose CF. The sweat test is a logical step or possibly pursue more extensive gene mutation testing. They may have only tested for the most common mutations. The likelihood of him having one extremely rare mutation in addition of an unidentified mutation is very very slim. I'm curious as to which mutation they've already identified?

I would encourage you not to research too much about CF. You'll find a lot of scary and outdated information on the Internet...be cautious! I hope you get a definitive diagnosis later this month!

If you do have specific questions, you've come to an awesome forum!

Congrats on your little ones!
 

kitomd21

New member
Hello, Lori. Very nice to meet you. Wow! Three wonderful little ones! I'm sorry Charles has already been through so much...but thank God for modern medicine! With close monitoring and the ever-evolving world of medicine, he's very fortunate! <img src="i/expressions/face-icon-small-smile.gif" border="0">

Regarding CF - I believe you stated that they've identified one CFTR mutation. There are at least 1200 mutations for the CFTR gene (I'm not sure what number they're actually at these days!). The most common mutation is delta508. Because they are concerned about his pancreatic values and identification of one mutation, they are trying to rule out another less common mutation in order to diagnose CF. The sweat test is a logical step or possibly pursue more extensive gene mutation testing. They may have only tested for the most common mutations. The likelihood of him having one extremely rare mutation in addition of an unidentified mutation is very very slim. I'm curious as to which mutation they've already identified?

I would encourage you not to research too much about CF. You'll find a lot of scary and outdated information on the Internet...be cautious! I hope you get a definitive diagnosis later this month!

If you do have specific questions, you've come to an awesome forum!

Congrats on your little ones!
 

Printer

Active member
Hi Lori:

I am sure that you and your husband are completly overwhelmed at this point but I need to make one point to you. Your child needs to be seen at an APPROVED CF CENTER ASAP, and he needs to be seen by a CYSTIC FIBROSIS SPECIALIST.

Just as you saw a HEART SPECALIST it is equally imperative that you see a CF SPECIALIST.

Bill
 

Printer

Active member
Hi Lori:

I am sure that you and your husband are completly overwhelmed at this point but I need to make one point to you. Your child needs to be seen at an APPROVED CF CENTER ASAP, and he needs to be seen by a CYSTIC FIBROSIS SPECIALIST.

Just as you saw a HEART SPECALIST it is equally imperative that you see a CF SPECIALIST.

Bill
 

Beccamom

New member
In order to find an approved CF center go to www.cff.org. DuPont is on the list, but not all of the pulmonologists at DuPont are on the CF team.
 

Beccamom

New member
In order to find an approved CF center go to www.cff.org. DuPont is on the list, but not all of the pulmonologists at DuPont are on the CF team.
 
B

BikerEd

Guest
At the top of this page far right, find a cf center, good luck

Ed
 
B

BikerEd

Guest
At the top of this page far right, find a cf center, good luck

Ed
 

JennyCoulon

New member
First off hello and welcome to this wonderful site. The first thing you have to do it just understand that you have to wait for the final results before you to panic. I have the mother of 2 boys with CF; my oldest is 12 and my other is 6. We also have a 11 month old daughter Peyton who doesn't have CF. CF is something that is scary and there are a lot of scary details about CF that may or may not apply to your child so don't do a lot searching on the internet. Every CF child is different and even if your child ends up actually having CF it isn't the end of the world. Just remember to make a list of any questions that you might have so when you do find out the results and if they are positive you can get answers to all of these questions that are swirling in your mind. Keep positive and visit this site often with any questions you might have before you get the final results if you can't wait as there are many of us that will gladly help answer those questions. Please remember that God only gives you what he knows you can handle. This is something that my grandmother told me long ago and I live by everyday. Keep us up to date and we will pray that the results are negative but will help you if they end up positive. Take a deep breath. <img title="Wink" src="include/wysiwyg/tinymce/jscripts/tiny_mce/plugins/emotions/img/smiley-wink.gif" alt="Wink" border="0" />
 

JennyCoulon

New member
First off hello and welcome to this wonderful site. The first thing you have to do it just understand that you have to wait for the final results before you to panic. I have the mother of 2 boys with CF; my oldest is 12 and my other is 6. We also have a 11 month old daughter Peyton who doesn't have CF. CF is something that is scary and there are a lot of scary details about CF that may or may not apply to your child so don't do a lot searching on the internet. Every CF child is different and even if your child ends up actually having CF it isn't the end of the world. Just remember to make a list of any questions that you might have so when you do find out the results and if they are positive you can get answers to all of these questions that are swirling in your mind. Keep positive and visit this site often with any questions you might have before you get the final results if you can't wait as there are many of us that will gladly help answer those questions. Please remember that God only gives you what he knows you can handle. This is something that my grandmother told me long ago and I live by everyday. Keep us up to date and we will pray that the results are negative but will help you if they end up positive. Take a deep breath. <img title="Wink" src="include/wysiwyg/tinymce/jscripts/tiny_mce/plugins/emotions/img/smiley-wink.gif" alt="Wink" border="0" />
 
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