New CF diagnosis

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Emersonsmom

New member
Hi. Our daughter was diagnosed a few weeks after birth. Her sweat chloride results were fairly normal, but due to two mutations, she has been given a cf diagnosis. We were completely shocked, as there is no family history. We are still very overwhelmed with all there is to learn. She is three months old today and is growing and gaining weight withoutdifficulty. Her lab results from her first "official" visit to a cf accredited care facility were all good, until we got the sputum results, which showed abundant growth of H Influenza. She has beenon Augmentinfor several days andthe cough she developed is gone. She is also on nebulizer treatments twice a day and the dietician put her on a fat soluable vitamin 2x/day, as well as a teaspoon of salt to be given throughout the day.The respiratory therapist also has us bouncing on an exercise ball daily. So far, it appears the clinic is being proactive and doing what they can, but I am constantly skeptical because I want to be sure she is receiving the best care possible. Any advice based on experience??? Also--anyone out there with the same two mutations? Thanks!
 
E

Emersonsmom

New member
Hi. Our daughter was diagnosed a few weeks after birth. Her sweat chloride results were fairly normal, but due to two mutations, she has been given a cf diagnosis. We were completely shocked, as there is no family history. We are still very overwhelmed with all there is to learn. She is three months old today and is growing and gaining weight withoutdifficulty. Her lab results from her first "official" visit to a cf accredited care facility were all good, until we got the sputum results, which showed abundant growth of H Influenza. She has beenon Augmentinfor several days andthe cough she developed is gone. She is also on nebulizer treatments twice a day and the dietician put her on a fat soluable vitamin 2x/day, as well as a teaspoon of salt to be given throughout the day.The respiratory therapist also has us bouncing on an exercise ball daily. So far, it appears the clinic is being proactive and doing what they can, but I am constantly skeptical because I want to be sure she is receiving the best care possible. Any advice based on experience??? Also--anyone out there with the same two mutations? Thanks!
 
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AleksandraKaczynska

New member
Hi, our daughter's leading muatation is the same 3849+10kbC>T
I wonder where are you from as it's rather a rare mutataion
Looks like you are getting all the right care
When Asia was so little sha also got ADEK witamin - now we use AquADEK but then it was not on our market
she got about 3 ml of 10% salt to drink and inahlations from 2ml 0,9% Nacl
we had then cpt - for babies - but I know that now it has changed and cpt is no longer made in babies due to possibility of reflux.
This muatation is considered very strong so usually it's the leading and usually patients are pancreas sufficient so they do not need enzymes - but cause Asia has a class I second mutatiion this needs chequing and monitoring.
Also this muatuion - causing a classic cf - also tends to show later on in life even - after the 20'ies.
Most patients also have lung problems mostly so thus you need to be procreative and watchfull, ceep sick people away and wash hand at enetreing your home.
if you wish - welcome to see our blog - mostly pictures - and you may e-mail me as this page often works bad for me.
 
A

AleksandraKaczynska

New member
Hi, our daughter's leading muatation is the same 3849+10kbC>T
I wonder where are you from as it's rather a rare mutataion
Looks like you are getting all the right care
When Asia was so little sha also got ADEK witamin - now we use AquADEK but then it was not on our market
she got about 3 ml of 10% salt to drink and inahlations from 2ml 0,9% Nacl
we had then cpt - for babies - but I know that now it has changed and cpt is no longer made in babies due to possibility of reflux.
This muatation is considered very strong so usually it's the leading and usually patients are pancreas sufficient so they do not need enzymes - but cause Asia has a class I second mutatiion this needs chequing and monitoring.
Also this muatuion - causing a classic cf - also tends to show later on in life even - after the 20'ies.
Most patients also have lung problems mostly so thus you need to be procreative and watchfull, ceep sick people away and wash hand at enetreing your home.
if you wish - welcome to see our blog - mostly pictures - and you may e-mail me as this page often works bad for me.
 
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Emersonsmom

New member
Thank you so much your response. We live in North Carolina. How do you know which mutation is the leading mutation? I have read it is often associated with a milder form of cf...when you say it is a strong mutation, do you mean more severe?
 
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Emersonsmom

New member
Thank you so much your response. We live in North Carolina. How do you know which mutation is the leading mutation? I have read it is often associated with a milder form of cf...when you say it is a strong mutation, do you mean more severe?
 
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AleksandraKaczynska

New member
no - by writing it's a strong mutation I meant it usally is the leading mutation.
how do we know? by my daughtre's health and symptoms - the doctor confirmed this after her reaching about 2,5 years.
we are from Poland - where this mutation is often found
 
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AleksandraKaczynska

New member
no - by writing it's a strong mutation I meant it usally is the leading mutation.
how do we know? by my daughtre's health and symptoms - the doctor confirmed this after her reaching about 2,5 years.
we are from Poland - where this mutation is often found
 
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breesgrammy

New member
hello, we live in west Virginia, i now have two grandaughters with CF Diagnosis, Brianna diagnosed at 31 days with the DF508 and Emma who was diagnosed at birth with the same gene mutation, they are both pancreatic insufficient therefore they take enzymes, my two girls do the same treatments as you are talking about, Brianna is now almost 5 and been in very good health, Emma is 3 months and the same good health, i credit our CF doctor and their mother, along with GOD for keeping them healthy, it is a scary situation and is always on my mind, it sounds like you are doing all the right things and keep up the good work, i don't know if i helped you any but if you want to email me or look me up on facebook you can, you can send me and email to scraftathome@yahoo.com Good Luck and God Bless You

Sandy: grandmother of 4 grandchildren, Brianna- 4 (CF diagnosis) Autumn-4 (no CF) Brycen -1 (no CF) and Emma - 3 months (CF diagnosis)
 
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breesgrammy

New member
hello, we live in west Virginia, i now have two grandaughters with CF Diagnosis, Brianna diagnosed at 31 days with the DF508 and Emma who was diagnosed at birth with the same gene mutation, they are both pancreatic insufficient therefore they take enzymes, my two girls do the same treatments as you are talking about, Brianna is now almost 5 and been in very good health, Emma is 3 months and the same good health, i credit our CF doctor and their mother, along with GOD for keeping them healthy, it is a scary situation and is always on my mind, it sounds like you are doing all the right things and keep up the good work, i don't know if i helped you any but if you want to email me or look me up on facebook you can, you can send me and email to scraftathome@yahoo.com Good Luck and God Bless You

Sandy: grandmother of 4 grandchildren, Brianna- 4 (CF diagnosis) Autumn-4 (no CF) Brycen -1 (no CF) and Emma - 3 months (CF diagnosis)
 
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Emersonsmom

New member
Thanks to those of you who have replied. It is nice to talk with people who are in similar circumstances. I am not sure about the H Influenza...other than our doc insisted on an antibiotic immediately. Sorry I can't be of more help, Mistyjo. Does your daughter exhibit symptoms along with the culture?
 
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Emersonsmom

New member
Thanks to those of you who have replied. It is nice to talk with people who are in similar circumstances. I am not sure about the H Influenza...other than our doc insisted on an antibiotic immediately. Sorry I can't be of more help, Mistyjo. Does your daughter exhibit symptoms along with the culture?
 
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edan

Guest
Jennie,

My daughter has the same mutations. I am going to send you a PM.

Mistyjo, my daughter also cultures H.Flu. She is followed at 2 centers and neither seem to treat the H.Flu unless there are symptoms, which it sounds like Emie had.
 
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edan

Guest
Jennie,

My daughter has the same mutations. I am going to send you a PM.

Mistyjo, my daughter also cultures H.Flu. She is followed at 2 centers and neither seem to treat the H.Flu unless there are symptoms, which it sounds like Emie had.
 
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jendonl

New member
My dd's CF doctor has never mentioned H. Infl. to us before but I recently saw a list of everything she has cultured over the last several years and H. Infl. shows up about 10 times. I wonder if it's something they don't worry about unless the child is very young?
 
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jendonl

New member
My dd's CF doctor has never mentioned H. Infl. to us before but I recently saw a list of everything she has cultured over the last several years and H. Infl. shows up about 10 times. I wonder if it's something they don't worry about unless the child is very young?
 
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Moonsprinkles

Guest
Our son was diagnosed at a week old after havig exploratory surgery for a bowel obstruction at two days old. He had merconium ilieus. We were also shocked. I more than my husband... he has two distant cousins with CF, but I never really knew them or anything about the disease when the doctor told us. It was so scary to me... I was uneducated about it and I didn't know what to expect. I felt completely at a loss and powerless to take care of our little boy.. Everything you posted the docs are doing for your little one sound like the usually ways to treat this condition. I remember at first, every time something would come back in test results or a new treatment was to be added to the routine I felt devastated again... like I didn't do something right to keep him from needing "more", but I've learned that things will come up. It's the nature of the condition. It's still not easy of course as a parent but we just have to roll with the punches and make every day the best it can be. We do tons of preventative measures... hand washing, hand sanitzing when we are out in public- our son has seen the grocery store maybe 5 or 6 times in his whole life and he's about to turn 4! <img src="i/expressions/face-icon-small-smile.gif" border="0"> Thank goodness we are blessed to be working through this disease now and not 10-15 years ago when they did not have as many facts about the disease as they do today. Asks your doctor any questions you may have, research what they say online so you can feel confident in what they are suggesting for you. You know your child best. We live in TN. My mother lives in NC. Please feel free to talk with me anytime you need. I have just now found this community of others who can relate to what our lives are like everyday. I'm so glad to be able to hear and share our stories together!

Mom to Liam, 4 w/CF,double DF508
 
M

Moonsprinkles

Guest
Our son was diagnosed at a week old after havig exploratory surgery for a bowel obstruction at two days old. He had merconium ilieus. We were also shocked. I more than my husband... he has two distant cousins with CF, but I never really knew them or anything about the disease when the doctor told us. It was so scary to me... I was uneducated about it and I didn't know what to expect. I felt completely at a loss and powerless to take care of our little boy.. Everything you posted the docs are doing for your little one sound like the usually ways to treat this condition. I remember at first, every time something would come back in test results or a new treatment was to be added to the routine I felt devastated again... like I didn't do something right to keep him from needing "more", but I've learned that things will come up. It's the nature of the condition. It's still not easy of course as a parent but we just have to roll with the punches and make every day the best it can be. We do tons of preventative measures... hand washing, hand sanitzing when we are out in public- our son has seen the grocery store maybe 5 or 6 times in his whole life and he's about to turn 4! <img src="i/expressions/face-icon-small-smile.gif" border="0"> Thank goodness we are blessed to be working through this disease now and not 10-15 years ago when they did not have as many facts about the disease as they do today. Asks your doctor any questions you may have, research what they say online so you can feel confident in what they are suggesting for you. You know your child best. We live in TN. My mother lives in NC. Please feel free to talk with me anytime you need. I have just now found this community of others who can relate to what our lives are like everyday. I'm so glad to be able to hear and share our stories together!

Mom to Liam, 4 w/CF,double DF508
 
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