Friday, January 1, 2010

DF508 and 621+1G->T Stories

We are looking for stories of those who have the mutation: DF508 and 621+1G->T.  Please use the comment box to tell us your story (or your child's story).

15 comments:

  1. Hi, My name is Kristine I have a 4 month son named Tyler that has the same mutation as your son.

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  2. Just for your info i recently found an man with CF that also has the same mutations...look him up on myspace.com under Dr. Salty

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  3. Thanks Kristine! This is great to hear! I'll look him up!

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  4. By the way, I don't have a myspace page so I can't email him. Can you do so and ask him to post? He lists his mutation as being mild. I have been told our son's mutation is severe. I'd be curious to find out what he knows! Thanks!

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  5. I am so new to the CF world it is so hard to find info on the mutations..I have read that the deltaf508 is class 1 severe...but I have read that the 621+1g>t is also a class 1 and in other places has said that it is a class 4 mild I'm not sure how to find more info....My docs here in saint louis say they just dont have enough info on it to tell yet...and yes i will email him and ask him to post...

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  6. My 11 year old daughter has these mutations as well. I am also curious to find out more about the 621+1g>T mutation. She has reflux, relatively mild digestive issues, and pretty severe lung issues. Lately her FEV1 has been around 60%. We do home IV 2-3 time a year. I wish we could get her FEV1 higher, but overall she is managing very well.

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  7. We just found out that my daughters "other" gene is 621+1G>T. She is 5 months old. She was born with meconium ileus. She is pancreatic insufficient and has been hospitalised twice since leaving NICU at 3 weeks old. Once for a bug and fever and once for vomiting bile which was caused by constipation, but we didnt know that at the time! I hope this blog stays active, I cant find much else out there regarding this.

    I am blogging about our ups and downs if anyone is interested : )

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  8. Danni OMG, my daughter Maddi, also has these genes, and suffered meconium illeus, very severe infact they needed to remove over 3 & 1/2mtrs of her intestine. She suffers chronic absorbtion and is hospitalised approx every 2-3mths for a tune up. This is a little girl they told me couldn't possibly survive (due to her ileostomy severity)I was also told she would remain in hospital indefinatley (she was born at RWH in Sydney and spent 2mths in NIC then transfered 2 Syd kids Randwick, till she was one, the entire time on TPN, never having fed... Then we went closer to home for pre home prep, where she contracted RSV they DAY she was meant to finally come home. I was told she would never consume food and to value everyday as a last. She turned 4 in september. She is very stubborn and has this incredible fight about her. She eats well, though weight gain etc absorbtion is a huge issue, though are main issue these days is Pseudomonas and lung infections, im writing this from beside her hospital bed as she also has pneumonia.....

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  9. My Daughter, age 22, has DF508 and 621+1G-T. She had meconium ileus and surgery at 5 days old. Has taken Pancreatic enzymes since birth and no hospitalizations until age 15. Some liver elevated numbers began at around 9 years old but they have been steady - she takes Actigall. At age 15 first tune-up and CF related diabetes. She was very active in grade school- volleyball,basketball, gymnastics and Irish Dancing. In High school swimming and even Water Polo. In college she started to have more tune-ups - PFT's around 70's.
    Have your children enjoy life as much as possible and try to stay active.

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  10. I am 23, I have DF508 and 621+1G}T. I did not know which mutation I had before asking about it today at my CF checkup at the hospital.
    I asked because I have always been surprisingly healthy as a CF in spite of my low compliance to treatments. I thought it was probably because I wasn't homozygous DF508 and it turns out that I might have been right. I have seen many CF kids be much sicker than I have ever been and die at a younger age, in spite of having a much better compliance than I ever did.

    I am a very very bad CFer. I don't eat a lot and I don't take most of the meds I should take. Of course you shouldn't be lax with your child's therapies, but here's how it went for me.

    They used to do preventive IV therapies every 6 months for 14 days with all CFers until they realized that it wasn't a good idea. So I had preventive IV therapies every 6 months from 0 to 14 years old.
    I lived with my mom from age 0 to 8. She was obsessive with my disease. So from age 0 to 8, my compliance to therapies was, let's say, A+++.

    I went to live with my dad starting age 9. I was left to my own much more than when I was with my mom, since my dad was often away from home and was a little carefree. He was also a smoker. He was smoking in the over fan but again, he was really carefree when doing it and he also thought it was alright to smoke in the living room when I was asleep with my bedroom door closed. He's very stubborn, so he didn't believe that it was harmful to me even though I repeatedly told him that I could smell it. He also thought that an air purifier was enough to clear it out, which it doesn't. I wasn't eating as much and was eating much less healthy food. I wasn't taking my vitamins and antibiotics like I should have and often forgot to take my enzymes when eating. My dad was doing me PCT when he was there, but when he was working away from home, I was just unable to sit down and do my terapep or flutter.
    I started having elevated liver numbers around 9 too. My PFT's decreased a lot (from something very good to something in the 50's) while I've been with him for a year and a half.
    My lung functions never got back to where they were before, but when I went back with my mom, thanks to much healthier food, strict compliance to treatments and up to 3 sessions of CPT a day, they increased a lot and I think they got back to the 70's.
    Then I went to live with my dad for one more year and my PFT's went back down to the 50's. They got back to the 60's when I went back to my mom's. I was 14 years old. As soon as I got back to my mom's I started to grow and take a LOT of weight. I do think that my growth has been stunted by my poor nutrition while I was at my dad's. What I got from that is that although they tell you that CFers should eat a lot of fat, you should try to have a healthy diet anyway.
    I have been physically active all throughout my childhood and high school years. By "physically active" I mean that I wasn't sparing any energy when doing sports. You know kids who are afraid to run or lift a finger or just stand around in a game of dodgeball wondering whether they even exist? Well I wasn't one of them. I was very energetic.

    My general compliance to therapies has gotten increasingly worse since high school. My PFT was around 45% when I entered college. I dropped out after 4 years after requiring IV therapy once ever semester for the last 3 semesters, which made it very difficult to catch up with what I had missed. My PFT were at 37% when I left college. That was 3 years ago. Today, my PFT was at 30%. I have stayed home ever since I left college. There is no doubt that the reduced physical activity from not having gym classes anymore then from staying home after I left college made my PFT's worse.

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  11. (Previous comment continued)

    I started having episodes of hemoptysis when I was 14. They have increased in severity through the years until I had a bilateral embolization 2 years ago. My right lung artery was thrice the normal size while my left lung artery was twice the normal size. This happens because of the increased blood flow to the lungs caused by chronic inflammation. The embolization fixed most of it, but since the lung inflammation is chronic, it's bound to come back. I'm going to need another one soon.


    So, about this compliance...
    I am totally unable to keep to a routine, especially since I left college. My sleep schedule can't really be called a schedule. I go to bed very late, which in turns makes me wake up very late, which makes me go to bed even later, which makes me wake up even later and so on.
    I have been taking nebulized Tobramycin 80mg BID with Salbutamol since I was 5 years old, but I have been taking it only OD since I left college (I really am unable to keep any kind of routine.) and sometimes I even skip days. I've been taking Pulmozym since I was 8 and I skip it even more often than I skip the Tobramycin/Salbutamol.
    I started taking Ursodiol when I was 9. I've been on and unofficially off it for years. I haven't taken it in... well over 7 years, except when I've been in hospital.
    I should be taking multivitamins as well as vitamin E supplements. I don't.
    I've been on Zithromycin TIW (three times a week) since I was 15 or 16 years old.
    I should be taking Flovent BID, but I have not taken it in many many years.
    I don't do any physical therapy.


    I had pseudomonas for as long as I remember. I had staphylococcus for some time in my early childhood and also had a very brief episode of B. Cepacia when I was 2 years old. I got rid of it, which is very unheard of and all that thanks to my mom's obsessive attitude toward my disease.


    In spite of having CF, I have a good immune system. I would often see kids miss school because they were sick, while I very seldom did (besides for my CF). Besides colds, I never ever catch anything. I got chickenpox when I was 15 and it was very mild. I never get vaccines and I never had flu. I think my boyfriend had H1N1. He had been sick for a week (nothing bad, just a very bad cough and audible lung congestion) and I was around him while he was sick. The worst I got was something like chills for 3 days. It could or could not have been it.
    Most of the time my body gets over exacerbation by itself.


    Anyway... long story short... someone with this combination of mutations should have a long life as long as they are thorough with their therapies.
    I would probably not be alive if I had homozygous DF508.

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  12. Thanks BG. My son has this combination of genes, and we have no idea what to expect. The doctors seem to be very vague. It's nice to hear stories from people that are experiencing this.

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  14. There is a facebook group for that pair of mutations! http://www.facebook.com/groups/354896417903931/

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