I am the mother of a 2-year-old boy with a fatal lung disease, cystic fibrosis, AMA!

I'm hoping he will turn out ok but on another note that is fascinating me at this time, How is the health insurance company acting right now? are they trying to steal all of your prized possesions for a saline iv? or are they covering the costs of medicine or refuse because the treatment is a rare one? thank you.

Hey just wanted to send a note that I love this question and want to answer it- I'm at work and started this string on my lunch break, so I will answer right when I get home. Thank you for being thoughtful and awesome-j

Hi! OK - My son's diagnosis has given me a new perspective on health insurance. He needed two life-saving surgeries to correct CF complications in his gut. I don't know the final tally, but my insurer paid the hospital hundreds of thousands for about 30 days in the hospital, mostly neonatal intensive care, two surgeries, etc. Of that, we paid about $9K, including $500 deposits and $3500 out of pocket limits x 2, as his surgeries took place end of 2012 and beginning 2013. I'd say it was about $1,000 more in random expenses. The insurer also beat the hospital's price down -- by $90,000. I know I will spend time fighting with my insurance company and already have. My son was denied a medicine for a severe type of cold called RSV, which can lead to pneumonia and serious complications in people with CF. The out-of-pocket cost for five shots over five months was $5K. We could not afford this as we were paying down the cost of medical events. I took them to task, going so far as to Twitter war -- all for nothing. Medicine was denied. That was so disappointing and stressful I sadly haven't even requested the medicine this year.

Medicine was denied. That was so disappointing and stressful I sadly haven't even requested the medicine this year

Besides trying to work it out with your insurance provider did you contact the drug company at all? Some have programs available that facilitate free drug distribution to uncovered patients in the U.S.?

BTW, did you know that there's a CF sub-reddit: r/cysticfibrosis. I'm a little surprised it wasn't called r/65roses.

Yes but I had exhausted a grant program the prior year, apparently. Who knows, I might give it another try. I'm new to Reddit as of today, thx for the advice. I wanted to reach an audience outside of the CF community for this string, so I thought this would be the best venue.

ALSO - my insurance just today approved a 9K/ month medicine Eli will start taking this month. I am so relieved.

American health care is appalling. His can the American people stand for this kind of system?

A little boy's life is at stake and they play their stupid games. Despicable.

I've had that thought, yes. On the other hand, he received excellent life-saving care that was fully paid for by my insurer. There are definite perks, and pitfalls, in our system. I'm trying to understand it all. It's tough. Learning as I go.

My son was denied a medicine for a severe type of cold called RSV, which can lead to pneumonia and serious complications in people with CF. The out-of-pocket cost for five shots over five months was $5K.

This is what makes me sick with US health system

No doubt. If a medicine is available to keep someone healthy, it's a dirty dirty trick to tell that person (a baby no less) "No!" It doesn't make sense. It's inhumane.

I'm a fellow CF patient, (19yo and diagnosed age 2) and I can't speak for all sufferers but personally as I've gotten older I've become very healthy and lead a normal life. I take medications but other than that I hardly notice it. So, I just wanted to let you know that there is hope- CF isn't always a death sentence or even a disability. So keep your chin up.

Now my question: what kind of treatments does he receive at the moment, being so young? I'm actually curious because I don't remember a whole lot about when I was that age.

I guess it is not that severe for some people. My mother had CF. She lived until age 54. She did almost everything normal people could do. The worst is that doctors were saying she won't last till 6 months old, then that she won't last till 1 year old, then 2 years old, then 5 years old, then 10 years old, etc. Then that she won't have any children (she had 2!). Now she is dead but she had a wonderful life!

OH-also- I am sorry for your loss. Yeah, you just can't listen to anyone who tries to act like you're some kind of ticking time bomb. Just live well. Sounds like your sister had it right.

Hi! Great to hear. We feel really hopeful! Day to day we are so happy and just have lots of fun and act like anyone else. He does a shaking vest 1 hr/day, Pertzye enzymes, ADK vitamin, vitamin D supplements and is about to start Pulmozyme.

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Yes! It is so good to know people are living into their 20s, 30s and beyond. I would have to check that average, though. Let me get to that in a moment.

A good friend of mine has CF as well, and constantly has this pretty rough cough. Do you have this as well?

Hey! My son doesn't cough all the time yet. He probably, at some point, will unless an advancement in medicine puts a halt to the illness.

Medicine is getting there. All the best wishes for you and your son! A friend of mine also has CF, and even though hers is pretty severe, she leads a relatively normal life. There's hope! Thanks for the AMA :)

Thanks for the note and for participating!

God be with you.

If you do not care for that statement. then:

Good luck to you and your family!

Thank you.

I'm graduating nursing school soon. As a nurse, what can I do make appointments/hospital stays smoother for kids like Eli?

Hi! Congrats! My sister is a nurse anesthetist. I respect the nursing profession so much. My tips would be: -Wash hands after you enter the room of each patient -Wash hands after you touch a common surface w/i patients room before you touch patient -Be attentive and detail-oriented. Nurses can catch hospital mistakes and be great advocates for patients. -Don't be offended if I request a new nurse or ask to talk to the charge nurse; I'm always looking out for my child's best interest. -Even though every day is just another day at work for you, remember, always, that families can be in a state of trauma during a medical event. Be sensitive to that. -I've had majority good experience with nurses so far for sure, but in the hospital I am watching every move with eagle eyes. -If you are to deliver alarming news or bad news, make sure someone is available right then and there to answer in-depth questions. Or, don'ot deliver the news until someone is.

Those are the first few that pop into my head. Thanks and congrats again.

Cystic fibrosis seems to be one of the diseases that we all know the name of but little else. It doesn't get much media attention. If you agree, why do you think that is?

How does CF impact Eli at this point?

What's the best thing, so far, about being a Mommy?

Thank you for sharing Eli's story. And yours!

Great question about daily life, thanks for asking.

My son wears a shaking vest for 1 hour a day to break apart the thick-sticky mucus that would otherwise pool in his lungs and invite infections.

He takes digestive enzymes coated in bicarbonate because he can't naturally absorb fat. W/o enzymes he wouldn't grow and would succumb to threats on his health or starve to death. He would basically poo out fat if he didn't take these. The bicarbonate helps with enzyme absorption and his acidic gut system.

He needs almost 2,000 calories a day to grow adequately, because even w/ enzymes, he won't absorb all the nutrients he needs.

Currently vitamin D deficient, which we will correct with over-the-counter vitamins.

Takes a special mix of vitamins A,D,K daily due to special absorption problems faced by Cf.

After 2, he'll started an inhaled treatment called Pulmozyme to thin the mucus in his lungs and get it moving. It's great to have a good insurance plan. This drug will cost my insurance co. $9K/ month, and myself hopefully a $30 co-pay or less with additional support or programs.

Since Sept., when his sis started school, he's been on 3 21-day rounds of antibiotics, none inhaled. He's begun to cough again as of two days ago. His baseline is not to cough, so we try to keep him there.

All of that being said, the majority of our days are spent playing, reading books, and talking about his favorite things: trains and trucks. He's strong, agile, happy, loves to laugh.

These treatments feel normal to us -- you brush your teeth every day?

So does Eli. These treatments are daily norms like brushing teeth. That's how we view them, any way! Our lives are just busier and a little more complicated than other peoples', but we are always working on better organization strategies to keep him healthy and all of us on the same page.

I will say we wash our hands so much during cold/flu season our knuckles crack and bleed. Lotion recommendations?

Aveeno. The blue one with the dimethicone :) I'm an RN and that's the one I've had the most success with for the cracky bleedy knuckles from handwashing and Purell. After washing and a nice big layer before bed. If you want to get super aggressive hemp lotion (the body shop) works wonders but stinks to high heaven. Even after you try to scrub it off.

Working with so so many kids with CF, I'm so glad to hear you have a solid routine :) it makes all the difference in the world.

THX! Purchasing some today!

Another nurse here - Bag Balm is good for severe dry skin, i.e. overwashed winter hands. It's made with lanolin. I've had a tin of it in my bathroom for like 10 years and it's still going strong. They sell it in the lotion section of CVS or Walgreens.

If Bag Balm doesn't work, you can seal the cracks with New Skin or superglue in addition to that. Beyond that, a paraffin wax dip appliance is as little as ~$30 at ULTA plus more for materials. You dip your hands in the healing warm wax in thin coats, then cover with a plastic bag, let it sink in, then peel off the wax and moisturize your skin. (Many nail salons will do this for $1 per hand with a manicure.)

excellent rec. I really appreciate these. Will put in use!

Wow, great questions, thank you. To answer No. 1 - why few people know much about it: It remains a rare disease, with 30,000 in the U.S. and 70,000 worldwide. That would be my guess as to why. It is getting more media attention lately due to a multi-billion dollar royalty purchase involving one of the disease's most innovative and promising drugs. http://online.wsj.com/articles/cystic-fibrosis-foundation-sells-drugs-rights-for-3-3-billion-1416414300

Oooh I love this question: What's the best thing about being a Mommy?

I have Eli, who is 2 tomorrow, and my daughter Laila, 4.

With my son, it's watching him grow and change, learn to talk, observing his fascination with even common, every-day things, because everything is new when you're a little person. I love waking him up in the morning, giving hugs, cuddling and reading stories at night. I love that when I come home he runs to the door yelling "Mommy!" with his arms outstretched.

Much is the same regarding my daughter. Admittedly, she's not as cuddly! But she is so funny, and smart, and fun to travel with and take everywhere, and asks some of the most logical, hilarious questions I've ever heard. Just last night: "Mommy, why doesn't Santa give presents to the naughty children? Do they get to start over?" She also tells dramatic, scary stories that usually end with someone being "dead-ed." She's quite intense. I love my kids so much.

Knowing you and your husband (guessing) are CF carriers, do you think you'll have more kids? Would you get a prenatal CF screen?

I want more children, but we would be more likely to look toward adoption when we're more financially stable. I've always wanted to adopt; my cousin is adopted. Every child we have has a 1/4 chance of having cystic fibrosis.

Did you have a prenatal screen with Eli and know that he was going to have CF?

Also, your user name is way funnier if you read it "Hit His [Eye]s Eli."

No, we didn't .I skipped the screens. I remember picking up the long-ago tossed brochure after Eli was born and was in the hospital. We had no reason to expect we were carriers -- that being said -- one in 20 people carry a CF gene.

You sound like a great person. I know it won't be easy, but hopefully you cherish all the moments you have. Good luck with everything.

Wow, thx.

I picked the right IAMA to ask questions in. Each of your replies is better than the last. Your positive outlook is infectious!

Thank you for all the information, insight, and making my day brighter!

All my best! Take care.

Wow, thanks. Everyone is being really cool. I'm brand new to Reddit today but have been a reporter for eight years and blogged pretty steadily for the last two years. Hopefully my writing has translated to Reddit-ing. Generally, Eli has made our outlook on life much more positive than ever before. I just try to keep things real.

damn, I'm sorry. How long does he have?

Hi! Great news - disease care has changed so fast in recent decades, and continues to advance at an accelerated rate. My son, ideally, with outlive me. People today do live into their 40s and beyond. There is a man locally in Oklahoma City who has CF and is 70! However - his case is very rare, and I believe he has something called corrector genes, which I wouldn't want to comment on as I don't know much about. As far as how long he (my son) has? Don't know. We're all gonna die some day.

That's good to hear! I think fatal in the title had us all thinking a much shorter timeline.

Fatal is a shocking word when describing a child's health condition, to be sure. Another term might be life-threatening. Both are accurate. It's a strange disease. Eli had a blocked bowel at birth caused by CF complications and required emergency surgery 14 hours into the world. At any moment, it could have ruptured and sent bacteria throughout his body. He could have gone septic and died of the resulting infection. He could have gotten a hospital-grade bug and died. Those things didn't happen. Regarding lung infections, some children get really sick really young, others don't. There's almost no rhyme or reason to it, it seems. All we can do is the care, wash our hands and hope for the best. Key is to live life, be happy, make plans and carry on as normal. Fretting over "fatal" doesn't do anyone any good. We try to make the most of our time together, if that makes sense.

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Hi! Thanks so much for the tip! Actually, that's a great idea as I'm trying to save for Disney, but with the extra expense of home childcare, which is done for my son's disease care etc., it's really tough.

We're all gonna die some day.

That's the right attitude. Life itself is a terminal condition is it not? You're right about the improvement in available therapies. There have been major symptomatic treatment advances over the past 20 years or so that has improved the life expectancy to a mean of 37 and a median in low 40's. There's still a slight skew to more patients passing at younger age but compared to 50 years ago when most patients didn't make into adulthood it is an astounding improvement.

The real break-through in the disease area is very recent when Kalydeco, the first CFTR potentiator drug, was introduced in 2012. It was the first of its kind to treat the underlying cause of the disease (incorrectly folded CFTR proteins) instead of offering strictly symptomatic treatment. In addition, very positive Phase 3 clinical data earlier this year has provided strong support for the possible introduction of a CFTR corrector drug as early as sometime next year.

There's also tons of research going on in the disease space by multiple companies which may be able to produce next generation CFTR correctors and potentiators by the time Eli is in elementary school.

Yes, thank you. The news about Kalydeco came out when Eli was in the NICU. At the time, of course, I did not understand what it meant in the scheme of things. It was a game-changer of a medicine, not just for CF, but for all disease. It addresses a genetic problem at the cellular level. If I'm correct, that's not been done before. I'm following the advancements closely and have much more to learn.

Have you reached out to boomer esiasons foundation for help for your son? They have done great things through the organization for helping children like yours.

Hi and thanks for asking a question! I was certain my string would disappear into the wilds and felt rather bashful for posting it! I have not yet reached out to that foundation, but am gearing up to. The main foundation I'm involved in is the Cystic Fibrosis Foundation, which was essentially formed decades ago when parents of children with CF were sick of them dying by age 5. Now there are great advancements and people with CF can live to their 20s, 30s, 40s and beyond. However, it remains a fatal disease, and far too many die far too young. I definitely want to reach out to the foundation you mentioned to interview the gentleman who started it and his son for my blog.

Boomer is a great guy (I used to work with him at the NFLPA). Very likely that he would help, or at least point you in the right direction, if you were to contact him.

http://www.esiason.org/

Good luck to you and your Son.

Thank you so much! There are some really cool people involved in supporting the disease community. Thus far I've interviewed rising country stars Branch & Dean and Joe Flacco from the B-more Ravens. They really help bring attention to the cause.

Is Eli allowed to play with other kids or do you avoid them so he does not catch illnesses from them?

Hi! Yes! To be honest, we've kept him pretty well isolated outside of family and close friends up until the past 6 months. It's important we put childhood first. So long as a child is well and not sniffly, Eli can play with them. We have play dates at our house with friends, go to the park, the book store, etc. During cold and flu season we take extra precautions while we are out. I'm the coo coo at the book store train table Cloroxing the entire deal. I Clorox wipe shared crayons. I Clorox wipe restaurant tables, shopping cart handles, etc. and physically avoid people who are coughing, snotty or sneezy. I don't take Eli to places like the play area at the mall during cold/flu season, though.

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Oh, gosh, yes! Totally know that but forgot to mention it. Odd and kinda crappy thing about this disease is that you can't be around another CFer due to cross-infection risk!

I remember being at a Cure CF walk years ago (my goddaughter also has CF) and they had a bouncy house...which was ridiculous because that was one of the worst places for a bunch of kids with CF!

Indeed - way too much togetherness from an infectious disease standpoint!

Do y'all have any particular religious beliefs?

I pray to God but have no religion if that makes any sense. My husband is Catholic, loves the tradition but hasn't gone to church in the 11 years I've known him outside of holidays. I feel closest to God in nature. I get a lot of fresh air. My only experiences I'd qualify as being close to God happened after my mom died of cancer 4 years ago. Since then I've had three oddly real dreams with her. In one, I asked her if it hurt to die and she didn't answer. A month later she answered the question in my sister's dream. Her answer: "No, not really." I had never told my sister about my initial dream. Death is a great mystery to me.

I understand. Thank you for taking the time to answer my question and for taking the time to put on this AMA. I do hope and pray that your son finds healing and comfort by whatever means possible and that your family would find strength and comfort to endure this difficult situation.

Thank you very much. We never turn away hope, good vibes or prayer.

Not trying to sound offensive towards you, but what does that have to do with her son's condition?

Well, I was going to ask in a follow-up how their religious beliefs factor into his treatment if at all.

It's really OK. A lot of people with CF are deeply religious or have families that are.

Very sorry. A girl I went to high school with passed away this summer of CF, at age 27. I sincerely hope that by the time Eli reaches adulthood, medicine has advanced even more!

My question - even knowing there is medical intervention these days to allow CF patients to reach adulthood, do you find yourself afraid to dream of his future and the things he might be and do someday?

A side question - how do YOU, the parent, cope? I don't have kids and one thing that makes me think I could never have one is that I don't think I am strong enough to handle a major complication or illness in my child.

Hi - just wanted to send a note to say thanks for the question - I'll answer later tonight when I'm home from work.

Hi, am back!

To answer your questions: No, I am not afraid to dream of the future. The trick is not to fear the future. Why worry about what we can't predict or control? We can only do the best we can and have a grand 'ol time along the way.

I am actively planning for the future, especially working on finances so my family will be able to save, travel, afford college, retire. Having adventures big and small is really important to us.

I feel like we need to be thoughtful and careful with spending and saving because our savings plan could include a lung or liver transplant at some point in Eli's life. I don't dwell on it. I just try to organize and be more "on it" than I was in my previous life, the one w/o chronic disease.

Regarding how I cope -- what I've learned in the last two years is that I am stronger than I ever thought possible. When we learned Eli had a fatal illness, I hit levels of emotional pain I did not know existed. But that's because I have love for my children. Sometimes love is struggle, and pain. But overwhelmingly, it's a good, good emotion.

I do my best to stay healthy and well. I consider healthy and well to be physical and mental. I treat the mind and body the same. If something is wrong, I go to the doctor and fix it. I need to stay mentally and physically well in order to care for myself and my family. I'd like to reduce the odds that I will have chronic disease.

Eli has enriched our lives in every way.

Good luck to y'all, as a side project I help one of my lab mates work on cftr (not my main focus, but it is hers) and it doesnt get anywhere near the press it deserves, so I just wanted to say thank you for doing this ama, hopefully it will raise some awareness.

Now on to my question, not sure how to phase it without sounding crass, but do you know which cftr mutation your son has?

Not crass at all. He has double Delta F508. There are 1,000 mutations but 90 percent of those w/ CF have at least one copy of D4508. Eli has 2.

If your sons is homozygous 508delta there are a lot of things to be hopeful for. As early as sometime next year the FDA may approve a new treatment for homoz508del (Kalydeco+lumacaftor). If approved, it will likely be for either patients of ages 12+ or 18+ initially, but there's a good chance it will be followed by a supplemental new drug application that would lower the prescription rate to peds (2-6) years. So there's a good chance Eli could be on a drug regimen in the very near future that improves lung functionality and significantly reduces pulmonary exacerbations.

Yes, one of the many reasons we are so excited and hopeful for the research and drug development in the pipeline now.

Hi, I have a best friend (18) who has CF and she is the bravest person I know. I hope one day your son will turn out like her, fearless and strong.

I'm curious about the treatments nowadays with babies and toddlers. My friend has to take a lot of pills daily, do you give your son pills? How does that work? Is it a shot until they are old enough to swallow the pills?

Thanks for doing this!

Hi! We break open the pills and feed them to Eli in applesauce. It was really cute to see this process when he was a newborn. Babies don't eat people food for a long time after birth, but here we were giving him applesauce. The look on his face was priceless. Of course I captured his newborn applesauce faces here

Good God, what a beautiful child!

You just won my heart. :) OK here is a post w/ pics of him at birth, one year ago and today

What encouraged you to do this AMA?

My son's 2nd birthday. And, it's a misunderstood disease, with care options changing fast and outlooks improving, so I'm up for raising awareness 24/7. The disease could be cured in my son's lifetime.

Glad to hear your intentions are good. As a smoker who's familiar with the disease, I support what you're doing.

Thanks

I would like to ask about your relationship with your husband. Has it changed since you've found out about Eli's illness? I really do hope that your relationship deepened with him, but also, i hear a lot about marriages that end or get worse due to a crisis with a family member...

I wish you and your family all the best! Happy new year!

Hi! I would say that at first, it was such utter turmoil across the board that our relationship took a back seat. The first year in particular was exceedingly hard on our relationship as we worked out our feelings about a fatal diagnosis in our infant, his day-to-day disease care, the stress of my return to work and finding adequate childcare, the stress and fatigue that comes along with having a new infant, dealing with unexpected medical expense, etc. There were also moments of mutual support, strength and the shared feeling that no one can understand what we are going through or what we face, that we are each others' best source of support. There was lots of joy and humor between us, even in really dark moments. In a tough situation all of your worst and best qualities are amplified. I found the hardest and easiest thing in the world is to be kind to each other, and that's what we have tried to work on during Eli's first several years of life. Still working on it! Mark remains my best friend who I love and admire for his kindness, patience, quiet strength, humor, life outlook etc. We stuck it out together and are stronger for it all, in conclusion.

Have your heard of rugby? If not you may want to look into it and particularly a player named Nathan Charles. He has CF and is a professional rugby player.

http://en.wikipedia.org/wiki/Nathan_Charles

Hey, that's awesome! I'm always on the lookout for inspiring CFers, thank you!

I'm always saddened to hear about another diagnosis. What genotype is your son?

Hi, he has two copies of the Delta F508. It is the most common. That's really good in a way, at least for my family, because it's where so much research is right now.

My nephew has the same condition and he's 6. Does where you're from screen every child at birth? Also how much had your use of sanitizer and washing hands increased cause mine went up a crazy amount.

Hi! Yes, Oklahoma screens every child at birth for CF. So does Michigan, where my daughter was born (who does not have CF). Every state should screen every newborn for CF, but doesn't.

We wash our hands sooo much more it's not even funny. Our knuckles crack and bleed in the winter. I look tough.

Hi! I am 20 years old and also have cystic fibrosis. It's not an easy disease, but in many ways it makes us stronger! Do you have a history of cf in the family? I am the only diagnosed case in mine! Best of luck to you and your family!

Hi and thanks for writing! No other cases of CF in my family. My little sister was tested and doesn't have the gene. My mom did not have CF but had terrible allergies throughout life and nasal polyps (a symptom of some CFers). I will say that she did lose a baby several days after birth way back in '74, and we don't know why. It's thought some kind of umbilical aneurysm. Eli's diagnosis total shock. That being said, Eli has enhanced our lives in every way.

I'm so sorry for your mother's loss. That is a wonderful attitude to have! Cf is hard on the patient, but it's also incredibly difficult for loved ones too.

Thanks. It was one of those things we never discussed in our family, except for the odd Memorial Day trip to the tiny Indiana town where Joanna is buried. She was born and died six years before I was born. I'm tempted to get her birth and death certificates from the county in which she was born.

Have you heard about this group?https://www.facebook.com/pages/CFCommunitynet-Where-people-with-Cystic-Fibrosis-meet/176854133478?pnref=lhc

My friend the girl in the cover photo helped set it up.

Also someone mentioned Rugby further down and this guy has 2 brothers with CF which is the family reason he quit playing for Australia and now plays in Japan(more money) http://en.wikipedia.org/wiki/Nick_Cummins

Good luck with Eli.

Hi! Thank you! Always looking for resources and connections in the CF community. I am definitely going to read up ,join this group, etc.!

What does it feel like to pimp out your terminally ill kid for karma?

Is that a real question? I'm new to Reddit, so I don't even know what that means.

I might add: Human spirit is impervious to disease. In my world, that's a story worth sharing. That's why I write about daily life with my son. Trust me, I don't get a cent out of it, just some free therapy. xo