The receptionist called this morning because I had called twice I guess the doc gave her the ok, she asked if I wanted her to give me the results over the phone even though she couldn't answer any questions. I said yes. So, all I know is the genetic came back and I have 'mild' cf. The cf nurse is also away this week so I need to call next week and make an appointment. I asked for the paperwork to be faxed to my family doctor so hopefully today I can pick up a copy and find out what the mutations are. Thanks for all the suggestions and support. I am a little shell-shocked. I didn't actually think this would be the end result.
Ok, I have Cystic fibrosis
- Thread starter meech
- Start date
Aboveallislove
Super Moderator
Big hugs to you! I am so sorry. This has to be so hard on you, but now you'll be able to get good treatment. Also, the goodnews is that if she said "mild CF" most likely that means mild mutations. Please do post those asap because there is a drug already approved by the FDA which can help immensely for some mutations and more trials are starting in the new year for others with "mild" mutations (as well as ones that aren't). Post and I'll try to guide you with the meds etc. Also, when you find out the mutations, ask if what class mutations they are if you could. Please know of thoughts and prayers.
I called my doctors office, it maybe tomorrow or Thursday before I can pick up the paperwork, my dr is not in today and he needs to sign it first. I will post it as soon as I get my hands on it. Thanks. I am also starting a list of questions for when I have my clinic appointment.
Aboveallislove
Super Moderator
Great idea! If you want to post I'm sure folks would chime in. If you do, maybe remind us of your current issues (illnesses, cultures, meds, GI) and where generally (i.e. Canada, u.s., eu, au) you are located, as there are generally different protocals.
I'm in Ontario, Canada. I was first diagnosed in 74 at 7 months old when I had staph pnemonia. At that time sweat tests were mid 60's to mid 90's. Also had pancreatic stimulation test which showed no bicarbonate or enzymes. After about age 5 I seemed to really improve with little problems. By age 7 or so my mom was questioning diagnosis so doctors repeated sweat tests over the next year or so they came back between 56-69 ( I believe) they then tried a trial of discontinuing enzymes. I did ok. About age 9 they start seeing me only once a year and I think stopped all together when I was 11 or 12 I was undiagnosed.
In my teen years I developed asthma and epilepsy.
In my 30's I started having episodes of swelling randomly ( tongue, lips, hand, foot, stomach ) these can last for 12 hours up to 2 days, it is called hereditary angioedema with normal c1. I have to give myself I.v. Infusions for this.
From the tests that have been done recently, my lung function seems ok still. I do have a daily cough. I do cough up a lot of mucus. I have chronic sinusitis. I have some bowel issues, mostly constipation with a lot of mucus. Also stomach pain, some of which is my angioedema ( not sure how much) I am a little overweight, partly from medication from the angioedema, but it has never really been a problem. I have type 2 diabetes, but it seems to come and go???? No medication for it. So now am wondering if it is related to the cf? I have not had cultures done since I was a child.
I don't know how I could have been pancreatic insufficient as a baby and then became pancreatic sufficient....that is a big question I have for them.
Another question for them is about the diabetes.
In my teen years I developed asthma and epilepsy.
In my 30's I started having episodes of swelling randomly ( tongue, lips, hand, foot, stomach ) these can last for 12 hours up to 2 days, it is called hereditary angioedema with normal c1. I have to give myself I.v. Infusions for this.
From the tests that have been done recently, my lung function seems ok still. I do have a daily cough. I do cough up a lot of mucus. I have chronic sinusitis. I have some bowel issues, mostly constipation with a lot of mucus. Also stomach pain, some of which is my angioedema ( not sure how much) I am a little overweight, partly from medication from the angioedema, but it has never really been a problem. I have type 2 diabetes, but it seems to come and go???? No medication for it. So now am wondering if it is related to the cf? I have not had cultures done since I was a child.
I don't know how I could have been pancreatic insufficient as a baby and then became pancreatic sufficient....that is a big question I have for them.
Another question for them is about the diabetes.
While I'm not glad you have CF, I am so glad you finally have a definitive answer! Sounds like you are on the right track with the question gathering and I'm positive with starting treatments you'll start to gain better control over the symptoms you've been experiencing. Keep us posted 
Hi Meech.
I'm happy for you regarding your recent diagnosis. At age 47 I was, pretty much, where you are now. You are on the road to feeling much better.
I would suggest that you are still pancreatic insufficient, I base this upon your constant stomach pain.
Would suggest that you be checked for Cystic Related Diabetes, it is neither Type 1 or Type 2 but a combination of both.
When we swallow mucus and we all do, it mixes with our food and becomes a glue like substance, sticking to the colon walls. This may be the cause of your constipation. I handle this issue with a cap full of Miralax daily.
There are almost 2000 known mutations any 2 will cause CF. 2000 X 2000= 4,000,000 possible combinations. You add to this that fraternal twins, both having the same mutations, each having had a different severity of CF. Local Doctors can't even tell you how many known mutations exist much less the severity of each combination.
Find a CF Specialist that you like, he/she will become your "best friend"
Good luck,
Bill
I'm happy for you regarding your recent diagnosis. At age 47 I was, pretty much, where you are now. You are on the road to feeling much better.
I would suggest that you are still pancreatic insufficient, I base this upon your constant stomach pain.
Would suggest that you be checked for Cystic Related Diabetes, it is neither Type 1 or Type 2 but a combination of both.
When we swallow mucus and we all do, it mixes with our food and becomes a glue like substance, sticking to the colon walls. This may be the cause of your constipation. I handle this issue with a cap full of Miralax daily.
There are almost 2000 known mutations any 2 will cause CF. 2000 X 2000= 4,000,000 possible combinations. You add to this that fraternal twins, both having the same mutations, each having had a different severity of CF. Local Doctors can't even tell you how many known mutations exist much less the severity of each combination.
Find a CF Specialist that you like, he/she will become your "best friend"
Good luck,
Bill
LittleLab4CF
Super Moderator
I doubt that the genetic testing showed anything that does more than confirm your existing "mild" CF diagnosis. On the flip side, having a genetic confirmation behind your presentation of CF can be a reaffirmation that quiets a lot of concerns.
One drawback of a late diagnosis, as in my case, was a constant worry that my health issues were imaginary at worst and self induced at best. My suspicion is this is not uncommon amongst most CFers. Illnesses like CF are more syndrome in effect. CF is pure and simply an error in the production and function of chloride ion channels on mucus cells. The problems arising from this malfunction are traditionally infections and organ dysfunctions that encourage infections and considerable stress on most organs and systems.
As Printer pointed out, CF's diagnosis from a genetic test has become a matrix of possibilities that exceed the total population of CFers worldwide. Companies like Vertex quickly realized that a specific genetic drug per mutation set is a great proof of concept but the general CF population needs something akin to a small group of panacea drugs that can moderate or improve the CFTR gene function for the few types of gene errors. Kalydeco is strips "D's" (aspartic acid) and surplants "G's" or guanine, a proper building block that corrects G551D. As part if acid shows in other CF mutations and is an effective CF moderator for three groups of mutations.
A number of clinically CF patients don't have any known CFTR mutations and their frustration over the lack of a confirming genetics looms large. Half a century of watching the science of genetics growing at light speed constantly superseding the last theory and unceremoniously discarding what was an absolute, last month.
Looks like a duck, coughs like a duck... Its a CF duck.
Best Luck,
LL
One drawback of a late diagnosis, as in my case, was a constant worry that my health issues were imaginary at worst and self induced at best. My suspicion is this is not uncommon amongst most CFers. Illnesses like CF are more syndrome in effect. CF is pure and simply an error in the production and function of chloride ion channels on mucus cells. The problems arising from this malfunction are traditionally infections and organ dysfunctions that encourage infections and considerable stress on most organs and systems.
As Printer pointed out, CF's diagnosis from a genetic test has become a matrix of possibilities that exceed the total population of CFers worldwide. Companies like Vertex quickly realized that a specific genetic drug per mutation set is a great proof of concept but the general CF population needs something akin to a small group of panacea drugs that can moderate or improve the CFTR gene function for the few types of gene errors. Kalydeco is strips "D's" (aspartic acid) and surplants "G's" or guanine, a proper building block that corrects G551D. As part if acid shows in other CF mutations and is an effective CF moderator for three groups of mutations.
A number of clinically CF patients don't have any known CFTR mutations and their frustration over the lack of a confirming genetics looms large. Half a century of watching the science of genetics growing at light speed constantly superseding the last theory and unceremoniously discarding what was an absolute, last month.
Looks like a duck, coughs like a duck... Its a CF duck.
Best Luck,
LL
Before results started coming back I was starting to wonder if I was grasping at straws and trying to make pieces fit into an old diagnosis. As someone who has dealt with depression, I have a family Doctor who likes to blame that for all my troubles, no matter how far fetched.
I now have the genetic results (1717-1G>A and R117H 7T ) and have spent some time reading up on them. They do seem to have just confused the matter more for me and bring up more questions. The R117H seems associated with little to very mild disease. I hope that is the case. However it does make me wonder how I ended up in the hospital for a month at 7 months of age with staphylococcal pneumonia and my lung collapsing twice, leading to my original diagnosis. So maybe I'm not understanding the 'mild' part. Or mild is relative when it comes to cystic fibrosis. With all the reading I've done on cf, I thank my lucky stars I don't present as classic cf and my heart goes out to those who deal with it day in and day out. I just was hoping for an idea of what my future holds, but am understanding what you are all saying about the variability. Thanks again.
I now have the genetic results (1717-1G>A and R117H 7T ) and have spent some time reading up on them. They do seem to have just confused the matter more for me and bring up more questions. The R117H seems associated with little to very mild disease. I hope that is the case. However it does make me wonder how I ended up in the hospital for a month at 7 months of age with staphylococcal pneumonia and my lung collapsing twice, leading to my original diagnosis. So maybe I'm not understanding the 'mild' part. Or mild is relative when it comes to cystic fibrosis. With all the reading I've done on cf, I thank my lucky stars I don't present as classic cf and my heart goes out to those who deal with it day in and day out. I just was hoping for an idea of what my future holds, but am understanding what you are all saying about the variability. Thanks again.
kittenface
Member
I was diagnosed as mild CF - 12 years ago in Toronto, Ontario. I'm now 49 years old. Diagnosed when I was pregnant. Are you going to St. Mike's or Sick Kids for your appointments? I went to Sick Kids and am now treated at St. Mike's Downtown Toronto. Great group of doctors there. If you would like to chat further you can send me a private message. I'm also on Facebook.
Being diagnosed is shocking but as everyone else mentioned - the best solution to a much needed question on why you've been sick. Take care,
Being diagnosed is shocking but as everyone else mentioned - the best solution to a much needed question on why you've been sick. Take care,
Oh my goodness LL, this honestly made me laugh out loud. So true!!!
Meech, I'm really glad you finally have a diagnosis. As many have said, it's good in the respect that now you will finally get the treatment you need and should hopefully feel better!! Also, as Love mentioned, it is awesome that we know Kalydeco alone works for R117H and there are more correctors in the pipeline. I know you are in Canada so probably won't be able to get it right away, but shouldn't be terribly far down the road, and hopefully with proper CF treatment you can get, and stay healthy until those drugs are available!
Take Care, and thanks so much for keeping us posted! So many times people come around and post once or twice and we are left wondering.
Autumn 34 w/CF
PS. I wonder what your family doc that thought some of this was in your head has to say now??!! Lol..
Thank you. This forum has been an incredible help to me. It was back in June when I first posted here asking for ideas that it was suggested I get the genetic testing. While I thought I was 99% more likely to be ruling cf out then to to be diagnosed, people here helped set me on a path to answers. I want to keep people updated who have taken the time to respond and help answer my questions and also anyone who maybe browsing and in the same position I was in a few months back. Again, thank you all.
G
GoryLori
Guest
Meech,
The CF confirmation was a surprise for you to hear, but deep down, you knew it MIGHT be CF.
So now you have an answer and the best part is that there is treatment!
As you live in Ontario, you have EXCELLENT CF clinics open to you.
If you can travel to Toronto, you MUST go to St. Michael's Hospital (St. Mikes) for care at their Adult CF Clinic.
If you are in Hamilton, McMaster has one as does the London, Ontario clinic.
You are blessed to be in Ontario where there are 16 CF Clinics .
Here is the link to that list:
http://www.cysticfibrosis.ca/cf-care/how-cf-care-is-delivered-in-canada/cf-clinics-in-canada/
Ask lots of questions and bring your small cell phone so you can record the conversation.
I use my iPhone to tape (digitally) my clinic appts so I can go over it later and pay closer attention to what was said and suggested.
Please post your journey along the way.....
GoryLori
The CF confirmation was a surprise for you to hear, but deep down, you knew it MIGHT be CF.
So now you have an answer and the best part is that there is treatment!
As you live in Ontario, you have EXCELLENT CF clinics open to you.
If you can travel to Toronto, you MUST go to St. Michael's Hospital (St. Mikes) for care at their Adult CF Clinic.
If you are in Hamilton, McMaster has one as does the London, Ontario clinic.
You are blessed to be in Ontario where there are 16 CF Clinics .
Here is the link to that list:
http://www.cysticfibrosis.ca/cf-care/how-cf-care-is-delivered-in-canada/cf-clinics-in-canada/
Ask lots of questions and bring your small cell phone so you can record the conversation.
I use my iPhone to tape (digitally) my clinic appts so I can go over it later and pay closer attention to what was said and suggested.
Please post your journey along the way.....
GoryLori