New Adult CF Diagnosis

[randford]

I am 43 and was recently diagnosed with CF. My Nephew died last
year at age 15 from CF. He was Homogygous, or had two copies of
Delta F-508. I have one copy of Delta F-508 and one copy of P-140S,
a rare mutation. So rare that there is only one other person on the
30,000 CF patient database that has my combination. My
Nephew and I have had similar problems for years but he had it
much worse than I. He died from a brain abscess. Pseudomonas found
a path from the lung to the brain. For a CF patient, he was in
relatively good shape. He had headaches every time blood was drawn.
The doctor just thought his blood sugar was low or that he might be
dehydrated. The last headache took him rather quickly.<br>
<br>
I'm not sure what to expect as an adult. I'm confused. I thought
you either had CF or you didn't. It seems there are milder forms of
the disease. I have sinus and digestive problems but my lungs
appear to test well for the moment.<br>
<br>
During my investigation, I've discovered that different gene
combinations bring about different health problems. Plus I learned
new information from the CF doctor that there is a gene that
regulates the severity of CF. It's called the Transforming Growth
Factor Beta-1 gene. I found a study on the www.cff.org site that
shows discovery of TGF-B-1 expression. The study was released in
October of 2005. I was told that environment, genetics and even
androgen levels can affect TGF-B1expression. Plus the gene can
alter its expression and make things much worse. For some strange
reason, my testosterone levels are abnormally low for my age. The
CF doctor said that it's possible that CF has something to do with
it. Based on what I've read, I could only assume that low T-level
output can increase TGF-B1expression and prevent more serious
symptoms of CF. Does anyone know anything about
TGF-B1expression?<br>
<br>
Also, if you are an adult with CF, tell me your experience. I know
we are all biochemically different. I also know that as we age, CF
blossoms. I have not stared Pulmozyme due to costs that is
$1700/month. I'm on an individual PPO and feel certain that they
will increase my premium to the point in which I cannot afford the
medication. Are there alternatives? I have so many questions.<br>
<br>
Thanks.<br>

 

[thelizardqueen]

Hi randford - welcome to the site. I'm sorry to hear about your nephew, I can't imagine what it must have been like to go through with such a quick and unexpected passing. Like your nephew I'm a double delta f508 - diagnosed at 6 weeks of age. My lungs up until the age of 14 weren't very involved - I only had digestive issues. At 14 I cultured Pseudo and developed CF related diabetes. Up until this year I've been lucky to have only had still minor lung involvement (hospitalized 2x in 10 years for IVs). Its amazing that while we all share this horrible disease, that many of us are very different when it comes to how progressed our CF is, when we were diagnosed, etc. Some of us with no lung involvement, but have digestive problems, some the other way around. Some of us diagnosed at birth, some not until their 30s or 40s.

 

[Jem]

First off welcome to this cf forum.  I am relatively new to
this sight too but soon enough you will see that many here
will embrace you with their support and knowledge.  You can
learn a lot from their experience.  You can also use the
search feature to research past posts which might answer many of
your questions.<br>
<br>
I am sorry about your nephews passing from cf complications.
 It must have come as quite a shock to find out that you too
have cf.  There are many people who have been diagnosed as
adults and with the new more expansive genetic testing available
this trend will continue.   In fact my brother, who will
be 52 shortly, was diagnosed only 4 years ago.  He has
experienced asthma like symptoms for many years and just couldn't
believe when the gene test came back positive.  By that time
though, when this was discovered he also had a sputum culture
showing he had micro avium abscessus. Early diagnosis is vital to
maintaining good health, at least it helps to slow down the
progression of lung disease.  He lost 1/2 lung to this disease
but is doing much better now.<br>
<br>
I do not  know anything about TGF-B1expression but you seem to
be doing a good job with becoming as informed as possible. Being
proactive with your health will help you greatly.  Are you
going to an accredited cf center?  Have you had sputum
cultures done to check for pseudomonas and other bugs?<br>
<br>
Certainly everyone progresses at a different rate and with new
therapies available today that rate has slowed dramatically in the
years since you  or I have been born.<br>
<br>
You mentioned not starting Pulmozyme because of insurance.
 How about nebulizing 7% Hypertonic Saline?  Have you
heard of that?  It is an extremely cheap drug to use that will
help thin mucus so that it is easier to cough out.  I have
been using it for 2 months now and am very pleased with how it is
helping me to get more mucus up.  There are a lot of posts on
Hypertonic Saline (HS) that you can do a search on and read up on.
 Certainly your CF doctor, and I hope you have one, is up on
this and can get you going on this.  I pay $36 dollars a
month, which includes free shipping to have my doses (I take two a
day) compounded.  The pharmacy is:  www.foundcare.com
   You can also buy the vials  from your local
pharmacy and mix them yourself (you mix a certain amount of 3% and
10% to get 7%).  Others that do it say it is not difficult and
I believe they have said it is even cheaper that way.<br>
<br>
As far as how I am doing...well, I think I am doing pretty darn
good for a one lung gal who's FEV 1 is 45%.  How is yours?
 I live what I consider a very good life with my husband and 3
kids.  My medications are:  Advair 100/50 - 2x a day---
 Albuteral  2 puffs before the 7% HS --2x a
day--pulmozyme at night before the HS.<br>
<br>
Periodically I go on oral antibiotics for chest infections (two
times this past year) but the last time I had IV's was before
I had the rest of my lung removed 7 years ago due to chronic
hemoptysis.  I have not had a major bleed since.  Only a
few times these past years...less than a teaspoon.<br>
<br>
Certainly exercise ( cardiovascular workout) is very important for
airway clearances and when you get your insurance straighten out
you might like to look into acquiring The "Vest" or at
 the very least a "flutter" or "acapella
choice" for airway clearance too. You can do a search on
these to read about them.<br>
<br>
Please feel free to ask me any questions you might have.  Good
luck to you and hope to be reading more from you on this forum.<br>
<br>
<br>

 

[randford]

TLQ,<br>
<br>
August 15th will be a year. He was such a bright child. He was like
a son to me. He was diagnosed a age 3. A friend and nurse kissed
him and noticed that his skin tasted very salty. She immediately
new what it was.<br>
<br>
You seem to be a strong and willing person to fight this disease
and it sounds as though you are doing well. Perhaps the TGF-B1 gene
is regulating the desease for you. 2 lung issues in 10 years is
pretty good. Hang in there. I believe that I will develop
CF-related diabetes as you have. I just don't know when. It's like
time bomb. But I do not fear or complain. My Nephew had it much
worse than I.<br>
<br>
I had to change my lifestyle a bit. Friends are confused but
understanding. The diagnosis certainly changes your perspective in
life...and your priorities.<br>
<br>
Recently, I almost overheated after being with friends out in the
hot sun for most of the day. I turned red and started breathing
heavily and couldn't keep my balance. That has <span style=
" text-decoration: underline;">never happened. One that day,
 all the electrolytes were gone and it was a little
embarrassing around all my buddies. They rushed me into the house.
After that I was OK. That's when I told them about my diagnosis.
They were stunned. I've always been the strong and cocky one but
it's been a facade for years. It just caught up to me. I've had
problems for years but never told friends. I just made it look
good. I never sweat much, though. My buddies always teased me about
that when we played football in high school. They reminded me that
they used to called me "Mr. Cool". I didn't know that was
one of the symptoms of CF. We all had a good laugh. They were
pretty cool about the whole thing.<br>
<br>
Thanks for your kind words. There are always new treatments for CF
so there is always hope for all of us.<br>
<br>
Randford<br>

 

[randford]

Jem,<br>
<br>
Thanks for the information. I'm learning that CF is very
complicated. I'm glad you are doing well. I'm sure your family
offers much love and support. Thanks for telling me about
Hypertonic Saline. $36/month is better than $1700/month. I think
the CF people mean well but each clinic makes sure that patient
results are high so they will offer the best medication.<br>
<br>
I have to do Advair and Albuteral as well. My lung function is
pretty good for the moment but that could change with one pulmonary
event.<br>
<br>
I'm sorry that your bother was diagnosed. What is micro avium
abscessus? I'm glad he is managing his health. I'm sure that I will
be faced with more issues. But like your brother, I caught it early
enough to fight it.<br>
<br>
Thank you for your kind thoughts and all of the information. Thank
God for the internet and discussion boards. I've never been a
member of one. But it is good to share thoughts with others.<br>
<br>
Randford

 

[illbehaved]

Hi Ranford- Like you I'm new to the site, and while I was diagnosed
at 3 I was always the "healthy " CF kid! The last couple
of years have added a few challenges but I am still in
"good" health. I have, however had to spend considerable
in the middle of this quagmire we call insurance. In the state of
CA insurance companies CANNOT arbitrarily raise your rates. Even if
you have certain meds, hospital stays etc, they cannot change the
policy during the contract term. Now a lot of policies have caps on
stays, meds,  coverages etc, and they can impose a set premium
if you are uninsurable. To raise your actual rates the company must
have a universal class raise. Our company (we own a small business)
pays a 10% higher premium for all health policies (because they can
no longer flat out refuse to insure the "uninsurable")
but the only time the rate went up was when the company raised all
of it's rates. My husband is just finishing his insurance
certification and was pretty sure that most of those
"rules" were national.<br>
Unfortunately you will now have to be your own strong advocate, not
only in your health care, but also in the annoying fine print it
adds to your life!<br>
Having written this long book, there is another option for your
pulmozyne If you can establish financial need, Genentech, the
manufacturer of the drug has a program for CF patients.
genentechcfendowment.com is a sponsored fund for occasions like
these.<br>
Good Luck!

 

[JazzysMom]

Welcome to the site. I am sorry to hear of your nephews passing. I can only imagine what it is to be an adult & be thrown such a dx & then have to alter your life accordingly. My basic info is in my signature. Keep coming back for any ??? you might have because I guarantee that someone on here will have an answer or an experience associated with it!

 

[randford]

Heather,<br>
<br>
Maybe I should move to Los Angeles! BCBS sucks. Once diagnosed, the
info goes on the MIB (Medical Insurance Bureau) database. So no
matter what you do or where you go, it's there. Oh well, such is
life. My fear is being uninsurable and at some point, unemployable.
I know they can't prevent you from being hired but they can use
excuses to get rid of you if the group plan gets rated up. But
there is only one way to find out.<br>
<br>
Thanks for the Genentech info. I'll look into it.<br>
<br>
Thanks,<br>
<br>
Randford

 

[NoExcuses]

don't move to LA. the air here is the worst in the country and its overrun by illegal immigrants. ER's are closing left and right. i'm counting down the days until I can leave.

 

[randford]

I love the web site! I really like the t-shirt message, "Blew
my 401K on Pulmozyme and liquor." That's classic! Or
"Excuse me while I beat my son." Very good. It gets
people's attention.<br>
<br>
Thanks for the kind word about my Nephew. I created a site in his
memory. www.randysnider.com He was my only purpose. Now helping
others with CF is my purpose. I new that I carried one gene before
he died. He knew it to. But I was not officially diagnosed until
after he died. I could have shared the burden and fought the battle
with him had I known. I blame myself for not doing it sooner.<br>
<br>
You have quite a resume and a lot to live for. I'm proud for you
and your family. You sound like a strong person.<br>
<br>
Thanks again!<br>
<br>
Randford