F508 & d110h

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Jeannie85

Guest
Hi, I am new to this site. Curious if anyone has f508 & d110h? My daughter is 15 months and was diagnosed on newborn screening. My husband and I have dealt with this for over a year, but still cannot accept it. We feel as though she has not one symptom.....which is a good thing.....but makes it hard to accept something we dont see. We were told that from what they know it should be mild. Wish we could see into the future!
 

Aboveallislove

Super Moderator
Dear mom,
welcome! I just did a quick google and it looks like your precious daughter is one of the "lucky" ones because the d110h is a mild conducive mutation which studies show might be helped with kalydeco. Not sure if you follow the research, but that is a drug that fixes in part the mutation defect. And there are drugs in the pipeline that within five years could get your daughter cftr gene function to close to 80%. So by the times she's ready for school, she'll have near normal functioning genes! That she's been so healthy is great be sure if she doesn't have any damage then the drugs can keep it that way. I know how hard this is but there is so much hope so close for her. Hugs and prayers,
Love
 
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Jeannie85

Guest
Wow! Thank you for a quick response! That is great to hear! I wonder why her team never has mentioned kalydeco?! I pray with her every night that they find a cure and until they do, that God keep his healing hands around her!
 

Aboveallislove

Super Moderator
They haven't tested it yet but in vitro indicates it works. Do a search on here for the d110h and sixtyfiveroses has a great summary and link to the article on it.
 
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Jeannie85

Guest
Is the combination that my daughter has rare? I'm surprised nobody else has read this and has D110H......good thing or bad thing?
 

Printer

Active member
Like your daughter, I have Delta F508 and another milder/rare mutation. I will be 75 in January and have been married for more than 50 years. I have a college education. I played varsity basketball (poorly but I played) in college. I was a lifeguard for 5 years on an Atlantic Ocean Beach.

Cystic Fibrosis is NOT a death sentence. Your daughter will go on to live a long and relatively healthy life and in time you will likely become a Grandmother.

Let me add, it is crucial that she be regularly seen at an APPROVED CYSTIC FIBROSIS CLINIC by a CYSTIC FIBROSIS SPECIALIST. Your local Doctor may be a great person & Doctor but is unqualified to treat CF.

Bill
 
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Jeannie85

Guest
That is great to hear! I'm excited to know your accomplishments and it gives me great hope! :)
 

Printer

Active member
Jeannie85:

I am not the oldest CF Patient. There is a women out here who is 76 and someone in the CFF Register in the mid 80's.

Bill
 

BreeAlysia

New member
Just to echo what others have said, make sure you take your daughter to a CF clinic. I have F508 & d110h2 and I was never sick as a child. I was diagnosed when I was 30 after years of chronic infections in my lungs. While I was healthy for most of my life, I can't help but think earlier detection would've helped me. I am now 38 and my PFTs are in the 35 range and I have started working with a transplant center because of thde damage to my lungs. I feel okay and I am lucky to have the health that I have, however, I sometimes think my lungs would be in much better shape had I known the root cause of my issues from birth. I certainly would not have smoked in college.
 
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Jeannie85

Guest
Oh yes, she had been going to the cf clinic since birth, every 3 months. BREEALYSIA- is d110h2 different from d110h? Would you say you were asymptomatic as a child?
 
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Jeannie85

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

Ratatosk

Administrator
Staff member
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.
 
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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.
 

BreeAlysia

New member
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.
 
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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.
 

BreeAlysia

New member
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.
 

Cdodd0110

New member
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.
 

Cdodd0110

New member
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.
 

Cdodd0110

New member
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.
 
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