Page 2 of 4 FirstFirst 1234 LastLast
Results 11 to 20 of 32

Thread: F508 & d110h

  1. #11
    Jeannie85
    Guest
    As I'm re reading this, I think maybe you meant you have d110h also......?

  2. #12
    Super Moderator
    Join Date
    Apr 2006
    Posts
    20,903
    While different mutations cause differing symptoms, it's important to be proactive -- treatments, go to a cf center.... We were told that people wcf are born with normal lungs; however, over time due to extra thick mucus, infections...eventually the lungs will be effected. Even with ds' mutations, there are varying degrees amongst the people I know with this mutation. Locally a 3 year old who'd never ever been sick, not even an ear infection was diagnosed when tested because newborn screening found her newborn brother had cf.

    DS' issues to start were primarily digestive and because he was pancreatic insufficient needed enzymes to digest foods. He also had sinus issues -- chronic stuffy nose that never ran. His baseline is still no cough.
    Parent to a child wcf double delta f508.

    Started Orkambi July 2015
    Began Symdeko August 2018

  3. #13
    Jeannie85
    Guest
    I hope my daughter is asymptomatic forever! When I read about other's who have never been hospitalized or never shown symptoms, it makes me very very hopeful that will be our story too! Im so faithful with her treatments. Its just normal to us now. Its a part of the day, everyday.

  4. #14
    Good question. I'm not sure if it's the same or a different gene. I just know on my report that's how it's written d110h2. I was definitely asymptomatic as a child. I was almost never sick. I got pneumonia for the first time in my mid 20s. And then I'd get sick every six months. They found the bronchiectasis in my late 20s. I still wasn't diagnosed with CF for another few years. I have almost no pancreatic issues. My sweat test was normal as well.

  5. #15
    Jeannie85
    Guest
    I will ask our cf doctor at the next visit because now I am curious about the difference with or without the "2"
    I am glad to hear that you were almost never sick as a child. My daughters sweat test was positive but not at all on the high side. She is also pancreatic sufficient.

  6. #16
    Quote Originally Posted by Jeannie85 View Post
    I will ask our cf doctor at the next visit because now I am curious about the difference with or without the "2"
    I am glad to hear that you were almost never sick as a child. My daughters sweat test was positive but not at all on the high side. She is also pancreatic sufficient.
    Yeah, I would be interested to know. I've never asked my doctor and maybe I should next time I see him. Since I was diagnosed only a few years ago, I am sort of new to all of this information.

  7. #17
    Junior Member
    Join Date
    May 2015
    Posts
    5
    My 6wk old son was diagnosed last August. He has both of these mutations. The only symptom he has is his salty skin. My two older daughters were tested after my son's sweat test came back positive. My 5 yr old(whose newborn screening showed she was a carrier) was diagnosed in Sept of last year as well. While I was devastated to learn of her diagnosis, I was also comforted. She's healthy and thriving. She's never had any serious illnesses or hospitalizations. She's never had a cough unless she's had a minor cold but she always recovers quickly without prescription meds or antibiotics. She was sent for x-rays and blood work at her first CF appt. X-rays were clear, bloodwork was perfect and her sodium levels were at 140. 135 is normal. The nurses said she looks like "a million bucks"! We are still adjusting to the reality of this diagnosis. As of now, they exhibit NO symptoms and neither one of my children are any medication. I'm hopeful for their future. I'm wondering I am of German/Armenian/Spanish Basque decent and my husband is Mexican. I'm wondering if this d110h mutation is common amongst those of Latin decent??? Just curious how many undiagnosed cases are out there because of these "mild" mutations.

  8. #18
    Jeannie85
    Guest
    Do they have to do any treatments?

  9. #19
    Junior Member
    Join Date
    May 2015
    Posts
    5
    The Dr. Prescribed a vest for my 5 yr old(diagnosed at 4) ....who has no cough, wheezing, breathing troubles, oxygen is always 100%, x-rays are clear. Because I'm very skeptical about the treatment that has been suggested. I asked if it was necessary for us to fill that rx at this point in time. My Dr. Told me that she has to prescribe the vest because that is a standard treatment for CF patients and she could get in trouble for not following CFF guidelines. I was also told by the Dr. that we don't have to fill the rx unless my daughter starts exhibiting symptoms. My concern was that my children weren't receiving individualized treatment/care. She was agreement and said that "Unfortunately, we have to live with this diagnosis" and admitted that this is one of the downfalls of the CF newborn screening. The CF foundation has standard guidelines for treatment and because this disease has such a broad spectrum of symptoms/mutations, I don't believe that treatment should be the same for every child. These are NOT cookie cutter cases. We've been told by the staff at our clinic that we are very lucky and that if children aren't presenting symptoms by the age of two, they tend to be "generally healthy". It's a waiting game for us. We go to our clinic appointments, we wait for two hours for the Dr. To listen to their chests, ask a million questions and then we're sent home with a clean bill of health...."for now." I realize we are extremely fortunate but it's frustrating when I'm told that my CF children are "healthier than 90% of the healthy children" they see. have to be an advocate and question every treatment and prescription on their behalf. What also worries me is that I was told that they don't know a whole lot about this mutation so their plan of action is continued "monitoring". My son and daughter were both prescribed ADEKS and Albuterol(as needed). So far, they are pancreatic sufficient and have had NO issues with vitamin/nutrient absorption. When I asked why they would need ADEKS, I was told that most CFers have trouble vitamin absorption. My CFers do not fall into that category so why would they need ADEKS? I was told that, that is a standard for CF patients...with classic symptoms. My children do not fall into that category. Same thing with the Albuterol. Why would that medication be prescribed to a child that had no breathing problems? I was told that it wasn't a preventative treatment but a "standard treatment" for classic CF. We have another appointment on Friday. CF clinic days are on Thursdays but I told the Drs. that I was sick of being charged for a nutritionist to come into the room and tell me he has no suggestions and they agreed. I have to remind the healthcare professionals that no one cares for the well being of my children more than I do so prepare to be questioned. To me, my kids aren't just some diagnosis with a standardized treatment plan.

  10. #20
    Junior Member
    Join Date
    May 2015
    Posts
    5
    I realize that I rambled on but I also felt that I should mention that I had to push for my 5 yr old to be tested. The head pulmonologist basically told me that it it was all in my head when I told him my daughter had very salty skin. "You probably just think she's salty", is what he said to me. He asked how old she was and if she had any symptoms. When I said she didn't have any symptoms besides the salty skin, he said she was fine. I set up a sweat test myself and found out she had it too. That is why I don't always take the Dr.'s word for it and question everything. My 5 yr old would have remained undiagnosed if had listened to him.

Posting Permissions

  • You may not post new threads
  • You may not post replies
  • You may not post attachments
  • You may not edit your posts
  •