New Diagnosis 3 week old baby

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BabyEllie
New Member


Date Joined Jul 2008
Total Posts : 5
   Posted 7/3/2008 2:17 AM (GMT -7)   
Hello Everyone,
    I'm new to the forum.  I'm thankful to find this.  I'm hoping there can be some new light shed on this terrible problem. Ellie was born on Friday the 13th of June.  She is my grandbaby.  Her mother is my 30 year old daughter.  Mom and Dad both tested positive for the Delta 508 gene.  They have a 19 month old boy who does not have CF. My daughter found out she was a carrier after she got pregnant the first time.  They then tested her husband who was also positive. She chose to have the baby and never had him tested in utero because she wouldn't have done anything differently if he had been a CF baby.  She got pregnant about 10 months later.  It was a surprise...they had not planned on it.  So when Ellie was born, everything seems fine.  about two weeks after she was born, she developed a cough and chest films showed mucous.  She was admitted to a CFF accredited hospital and stayed for about a week.  She is home now on antibiotics and enzymes...also vitamins. 
     She was labeled as a double mutation carrier of the 508 gene.  Doesn't anyone know what this can mean in terms of severity of illness?  The Dr. said they don't have enough data to tell her what the life expectancy might be.  I read of one person in the forum who is a double mutation carrier and is doing well. 
    Please....any information would be greatly appreciated.  We are new to this and are trying to learn all we can.
    We are Christians and know God has a plan...without faith, I don't know where we'd be.  But we need some encouragement and help.
    Thanks so much
          Rose

Gemsi
Forum Moderator


Date Joined Feb 2007
Total Posts : 1050
   Posted 7/3/2008 3:53 AM (GMT -7)   
Hi there Rose, welcome too Healingwell!

I'm Gemma 22, with CF myself. Diagnosed at age 2.

I also have double DF508 mutation and know of a few others. Generally I'm doing well, but my brother is doing better. My friend is still in full time work and doing really well aged 21. My other friend sadley passed away last year aged 20.

Unfortunately, genetics can't tell us anything. They can't give a life expectancy, and things are so different for each person.
My brother and my friend are on different amounts of enzymes too me. My brother has a different strain of an infection called Psudomonas to me and my friend. I've also heard of someone living until the age of 60 with double df508.

The average expectancy now for someone with CF is 40, a couple of years ago it was 31, before that 21, 12 and 5. These life expectancies are the ones we've been given as we've grown up. With advances in treatment and the possibility of a cure and longer lasting transplants, noone can give an estimate anymore on how long any person with CF will last, or with the new generation of children, how long they will stay well for.

I believe you have done the best possible thing by taking your granddaughter too a CFF accredited center. In the UK we have CFT accredited centers and the difference in care between a normal hospital and a CF center is incredible.

Because your grandaughter has been diagnosed so early, she will have the best possible chance. I once read somewhere that diagnosis before the age of 6 months results in milder respiratory symptoms and less nutritional problems.

If you have any questions, just ask
Gem


Moderator of the Cystic Fibrosis Forums
Diagnosed with: Cystic Fibrosis, Asthma, ABPA, Clinical Depression, Mild Liver Cirrohsis, Mild Osteopenia, Erythema Nodosum. Waiting for final diagnosis on Muscular Dystrophy type symptoms.
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BabyEllie
New Member


Date Joined Jul 2008
Total Posts : 5
   Posted 7/3/2008 10:57 AM (GMT -7)   
Gem,
     Thanks so much for your reply.  Any information I can get is go helpful.  We aren't sure if Ellie's loose bowel movement is because of her breast milk diet.  They've got her on formula too and her stools have changed since then.  I was thinking that the early diagnosis would mean she would have more severe problems...only in that she had chest congestion so early which required oxygen.  They thought she had pseudomonas but she did  not, thank God.
     I wonder if this was CF related or if she just had some kind of pneumonia from aspiration at birth or a feeding.  I guess we can't know at this point???
     Best wishes on your health.  Sounds like you are a remarkable person who is taking very good care of herself. I know that's what it takes......and God's help, for sure.
    Hugs from Rose

Hope for the future
New Member


Date Joined Oct 2008
Total Posts : 2
   Posted 10/26/2008 6:49 PM (GMT -7)   
Hello, I am a mother of 2 wonderful children. Our daughter now now 7 and son 5.  When Cayden was born in 2003 we found about he was diagnosised through his newborn screening and we recieved the call. They started to ask questions about our daughter who was then 21 months, she had no signs or concern that we had concern about, she did have loose smelly stools, and often a running nose, but those seeming more common and not concerning. They explained to kiss her and lick our lips, if she tasted salty that was a sure sign and yes she did, so she was sweat tested and also positive.  They both carry the double Delta 508 mutation.  I will tell you we were terrified of what CF meant never heard about it before, and read some horrible scary stuff which they say dont read old books, or get online, which everyone does as a reaction.  But I will say it is true!  Anyhow, our children have been doing extremely well to some things I understand can happen. They say they are on the mild side for CF. They are both pretty equally affected at this age, Cayden has been hospitalized once for bowel blockage issues, and was recent the topic of a possible feeding tube, however we have been feeding him a lot of fatty stuff, which he does at times not tolerate the extra fat as planned, and gets belly aches.  They both take enczymes prior to all food etc, and do there vest.  They were 2 times a day, however now 3/4 times  a week, and monitor for increase if needed due to cold etc. We mostly experience gassy kids, sometimes belly aches, and provide them quality care each day for what the circumstances bring.  We have always stayed very positive and teach and educate them on what CF means for them, teaching them everyone has something that affects them that makes them special. They are very involved with CF I chair a Great Strides walk this year going to be our 6th annual, and the are holding their 3 rd annual mini march at the school. My advice would be to focus on the now, what is needed care wise each day, and you/they will adjust to knowing this is just what life handed them, and everything happens for a reason.  We look at it as not something that is going to bring us down, but miracles in our life, that will teach of strength, joy, and make us fight for this cure!  Support for them is very important and not a oh gosh I feel so bad support but a this doesnt change who they are and CF will not overcome them-we can do this together attitude.  I say the more you can teach children to understand CF and how it affects their lifes-hopefully this will empower them through the teen adult years to follow the regime they will require to stay health.
 
Our children just had their annual a few months ago, and their lungs were better than ever.  Listen to the doctors, get involved with fundraising events or meet people that can relate with you-just dont let others get you down, trust your instinct, remember it is ok to cry, and it will get easier or maybe its just routine.  But love them unconditionally as my husband says you never know what could happen to anyone today or tomorrow-live every day to the fullest. God bless, I hope this helped, good luck and if you need keep in touch.
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