IamA 30 y/o with a rare disease called Relapsing Polychondritis, AMA!

will you get better? hope you do!

There is no cure for the disease, but chemotherapy can keep it at bay, so I think I'll be having chemo for the rest of my life. As long as it works though, the sickness is a small price to pay!

The surgeon I am under has plans to carry out a reconstruction of my airways, but that can take a long time to carry out, as we need to get the disease at bay before he will do it, otherwise it will just destroy my airways again :(

Chemo?is it a form of cancer then? (Didn't read under link)

No, it's an immune disease, and chemotherapy is an immunosuppressant, so it should stop the damage, but it is all about finding the right drug and dosage that works for you.

So other immunosuppresants like transplant patients wouldn't help? Or are you already taking them?

I'm currently taking methotrexate, which another Redditor just called a 'nuke compared to other TNF blocking biologics', so hopefully this will work, and then we can work on fixing what the disease has done.

Only time and LOADS of blood tests will tell if this will work!

Good luck. I took methotrexate for Myasthenia Gravis. It didn't help me and now I am on chemo. I hope you have better luck

Thank you!

I hope things work out for you :) Just try and stay positive, and you should do just fine!

Thanks. I'm starting Rituxan soon. I saw you mentioned you were going to start it. I hear it is great it's helping so many people in my support groups. Good luck dear

Thank you!

I wish you all the best too :)

Methotrexate is rough dude, but it basically cured my RA. Amazing stuff.

Yeah, I've just had my dosage increased too, which sucks, but if it works, it's a small price to pay!

Im on methotrexate for ankylosing spondilitis.luckily had no side affects from it yet.hope you get better dude

Wow, that's good news! I hope you're responding well to the treatment!

Thank you :)

Yeh its all good at the moment.not looking forward to whats gonna happen when i get older though.

Yes, I'm in the same boat.

But technology progresses very quickly, so we never know what will happen.

Stay strong!

I hope everything works out for you. Thank you for the response.

Thank you, and you're welcome :)

A buddy of mine used to work in a lab that sampled various forms of chemotherapy on patient tumor biopsies to determine which would work best for each case. They returned a much better patient success rate than the generalization of chemo X usually works well against this condition. Medicare/Medicaid decided that the cost/benefit ratio wasn't there and pulled funding. Business dried up almost overnight.

Jesus, that's really bad!

It really gets to me that money is the deciding factor on whether someone should get the treatment they need. If the people who decide that it isn't worth it were in our situation, they would have a different view on it.

It's awful, but I'm not sure anything will ever change :(

Why don't biologics like Enbril and Humera help keep it at bay? Sounds similar to psoriatic or rheumatoid arthritis...

They haven't tried those yet, I think my rheumatologist wants to try methotrexate first, then rituximab was mentioned as well. Apart from that, it is just trial and error, because one drug may be fantastic for some, but useless for others.

MTX Is a nuke compared to other TNF blocking biologics, so it would make sense to use MTX with a top down approach. Which is what doctors usually use for autoimmune.

Yes, he did say he wanted to 'hit it hard', and then move on to other things.

Hah, I love it, nuke. I wish I would glow in the dark though, haha.

haha Its powerful stuff, I hope you get into remission quickly. Have you received a infusion yet?

Yes, I started Cyclophosphamide infusions last year, I think I had seven or eight infusions, I can't remember, this was before I had the tracheostomy.

That was really rough, I felt really weird the day of infusion, and the day after I looked and felt like death :(

Thank you!

Sounds like an uphill battle, all the best to you. Question is, on the subject of methotrexate, would some of the heavier hitting biologics used for rheumatoid arthritis like Enbrel or Humera have any effect? They're hella not cheap, mind you.

Yes, it can get quite hard sometimes, but I'm thankful that I am still around to be with my family!

Yes, most of those do work, but it all depends on the person, and how bad the disease is. It is all about finding the right combination and dosage that works for each individual, so it can take a while to find.

Try protein inhibitors like retuximab, it's much like chemo but are more managable. I have ITP (an autoimmune disease that attacks platelets) and it's one of my lines of treatment. Although I've never done it because my disease is far less serious.

I think that will be the next one to take, apparently it is amazing as a 'maintenance drug', so once the disease is actually under control, rituximab will be the one that I will take to keep it under control.

Do you take anything for ITP, or can you manage without anything?

What's your life expectancy? Are you in a lot of pain?

When I was first diagnosed, they gave me 2-4 years, which was really upsetting to hear.

After doing a lot of research online, and getting information from specialists in London, we don't actually know! Chemotherapy is used to 'treat' this, but it works differently for each person, so we will keep on trying different drugs to find the one that works for me.

If we do, I MAY have a normal life expectancy, but we won't know for sure for a long time.

Plus, my airways are so bad, the parts that the tracheostomy can't reach are at risk of collapsing completely.

But hey, I'm still alive right now! :)

Not a question, but may you live a long happy life.

Thank you!

My life may not be as long as others, but as long as I am with my family, I will always be happy :)

It's hard to imagine a "normal life" with your disease.

Yeah, my normal will be different from everyone else, but everyone can adjust to changes with time. Although it may take a bit longer for this!

Ill be praying for you man. You seem to have a positive attitude even though you got a pretty crappy deal. I hope things work out for you man.

Thank you!

Spending a lot of time in hospital really gave me time to reflect on my life, and realising I need to change my attitude to certain things to live the best life I can with my wife and kids.

I want to be able to do as much as I can with them, just in case..

:)

I know how you feel man. Im only 18 years old, and am disabled. I was in a pretty bad car accident about 6 months ago. So i learned early on that you don't know when your time is up. But no problem man, just enjoy every day like it's your last.

Wow, I'm really sorry to hear that :(

How are you coping with things? If you ever need to chat or anything, send me your email by PM.

Yes, as long as I am surrounded by the people who love me, then I am a happy man :)

Did you know that drs have 3D printed a full set of custom bronchiole braces ( all the way down to the really fine ones) for AN INFANT to support them so they wouldn't collapse? I'd get your dr's to look into it. Wish I had a link.

Wow, I have heard that someone's complete trachea was 3d printed, and had stem cells to help create new tissue around it, but I haven't heard of that, I'll have to look into it more! Thank you :)

Keeping a positive outlook is so important, I wish you the best my man

Thank you!

I couldn't do this without my wife though. She's been my rock throughout this whole ordeal!

London, as in London Ontario? Or london england? Everyone I know seems to go to London Ontario for specialists, why are all the good specialists there?!

Question: are you able to speak?

I hope you get better.

Ahh, London, England :) I wish it was Canada, it's a beautiful country!

Probably because it is the capital city. They also have the funding there :)

No, at the moment, I can't speak at all, my larynx has completely collapsed, but there are plans in the future to reconstruct using rib cartilage, so that's something to look forward to!

Thank you so much :)

I remember learning about this in medical school. It's one of those diseases you assume you'll never see in real life.

Does the disease affect primarily the cartilage in your trachea or does it affect all cartilage equally? Will you be able to have the trach removed or is this likely permanent?

Thanks for answering my questions! I hope you do well!

Yes, I get that when I'm in hospital, everyone wants to have a look.

It's quite nice, because it makes the hospital stays less boring, but it can get quite difficult if they can't read lips, because I have no voice!

It has mainly affected the trachea, but it has attacked my thumb joints, my ribs and my knees, but nowhere near as severe as the airway damage.

They have plans to carry out a reconstruction using cartilage from one of my ribs, but that won't be any time soon, as we need to get the disease under control first.

Thank you very much!

I have costochondritis due to Ehlers-Danlos Syndrome, and my ribs are pretty messed up. I can't imagine having that pain in other places. You are in my thoughts, as well as your wife and kids.

I know exactly how that feels, costochondritis is another one of my symptoms, along with rheumatoid arthritis in other places too. It's bloody awful!

I've never heard of that before. Does it affect anything else?

Thank you so much :)

Ehlers-Danlos affects all of the collagen in my body. It is basically useless. So I'm super flexible, but constantly have dislocated and broken bones. It sucks and it causes me a lot of pain. I also feel you on the weight gain, I have been advised to increase my salt intake and avoid any impactful exercise. Not that my body much feels like exercising, but I am not really allowed anyway.

Wow, that sounds awful :( I hope things work out for you!

Man, I had costochondritis once and the level of discomfort was unreal. None of the painkillers really helped.

Yeah, costochondritis is one of the symptoms I get when I have a relapse, my god, it is bloody awful!

Thanks for answering my questions. Much appreciated! Doctors really appreciate patients like you who let us learn from your case. Thanks!

No problem!

I think the next time I am in London, I think one of the doctors asked if I would be happy 'speaking'(hah) to a bunch of his understudies.

I'm quite looking forward to that!

How would you say this disease has affected your social life ?

Pretty badly!

Because of the tracheostomy, I need a suction machine and a nebuliser. The nebuliser is mains powered only, and the suction machine is heavy and has a small battery, so going out isn't really something we can do easily.

We sometimes have friends come over to visit, but most of them have kids and busy lives, so it's not so often that happens.

Hey I don't know if this is anything you're into, but games were a huge outlet for me when I couldn't go out anywhere, same with art. Painting, drawings, even sculpting. Do you have anything that keeps your mind off?

Yes, I'm a huge gamer, but not very arty. When I spent a lot of time in hospital, I discovered a love of colouring! I ended up buying some really nice prismacolor pencils, and some Marvel colouring books, which was very relaxing!

Hey my mom had tracheal cancer. We got a prescription from her doctor for a 2nd nebulizer that ran off battery power. (I think the place we bought from required the Rx but we paid for it ourselves - I want to say around $60.) Anyways, even if you don't go out, it would be useful to have around if the power goes out. Just wanted you to know there's such a thing as a battery powered nebulizer. :)

We never really had to deal with taking her out on suction as 5 days after she got that machine at home she passed away. Probably would have needed a transport ambulance.

Yes, I have seen them, specifically an Omron one, that has a rechargeable battery, or can run off mains. It is about £200, so that is one of the things I have been raising money for lately :)

I'm really sorry to hear about your mother. I hope she went peacefully.

Yes, it comforts me that I was right there with her when it happened and it was very quick. Doing CPR on someone for real sucked though. In a couple weeks, it will be 3 years.

I don't remember what brand hers was but it came with the adapter to plug into your car's power port. In case the battery ran out of charge!

Have they tried a Passy-Muir valve on your trach to allow you to speak? She had one.

Aww, I can imagine :(

Yes, the one I've seen has a car charger too, It's a high priority for that one :)

Yes, when I first had the trach, we tried lots of different valves, but because my larynx has collapsed completely, I can't pass any air over my vocal chords at all, so I am completely mute. For now anyway!

Oh man, that sucks. I'm glad you found the app for your phone. At first they gave my mom a dry erase board that was pre-printed with a ton of phrases, an image of the body (so she could point to where she had pain, or itched) and an alphabet. About two weeks later it dawned on me to buy her an iPad! I didn't find an app to speak what she said but she could write it and let whoever read it. :) It helped a lot!

Good luck to you, I hope everything goes well!

Hah, my father bought me a small dry erase board too, but I ended up just drawing penises. I'm such a child!

The app is fantastic, it's called 'Speak for Me' on Android, I'm not sure about iOS. You can get it for free, but the paid version was £1 at the time, and you can save five things for quick access.

A few other patients wanted the similar app, so I showed the nurses, and they now get the patients to use the same app if they can't speak and have an Android phone :)

How old were you when first diagnosed and what was the progression like? What first happened that clued you in something was wrong? What do you want to do MOST that you can no longer do? Thanks for the AMA, prayers for you and family.

I paid to see a private doctor about two years ago, who first diagnosed me with this, but then my local doctor didn't think it was right. Then I was diagnosed again a year ago, when I moved to a different area, and saw different doctors.

At the moment, we aren't sure how long I have had this disease for. I was diagnosed with asthma when I was 2 years old, but looking back at my history, with other things that happened, it may have been this disease all along!

The thing I would love to do most is to just take my wife and kids out on day trips, but it's impossible at the moment with the equipment that I need to keep with me.

Thank you so much :)

Noticed that you live in the UK, any idea on the cost of your medical care? With the end if Obamacare and with whatever replaces it it should be interesting. My ex is dealing with lukemia and her costs has probably been over $2 million dollars or more.

At the moment, I don't know, apart from having one consultation with a private doctor, I haven't paid for anything else because of the NHS.

Although, we aren't sure how long the NHS will be around, so we may find out sooner rather than later.

That is a crazy amount of money! Does she have insurance or Obamacare?

When she 1st got sick it was under private insurance. We were separated at the time but I kept her and the kids under my insurance. After a while she applied for Medicaid and has been covered for the past 3 years or more. Even with the Medicaid, it costs $3.00 per prescription, doctor visit and so on.

https://en.wikipedia.org/wiki/Medicaid

Wow, that's really good of you to keep them on your plan!

I live in Wales, here we don't pay for prescriptions or anything like that, but in England, you do need to pay, and it can get quite expensive. Even the smallest costs can add up to a huge amount, especially with something like leukemia.

I really hope she gets through it!

I'm sure the time and expenses add up even there with this like getting to the doctor, change in diet and other living conditions.

I just felt it was the right thing to do. As for getting through it, it's hard to say. She had a bone marrow transplant over a year ago and that seems to be failing. So we can only hope.

Well I wish you all the best :)

Typically for frequent prescriptions for things like chemotherapy treatment their is no charge.

Ahh, I didn't know that!

I only found out they charge when I was in hospital in London, and there was a poster saying that it was £8.50 per item, for up to 4/5 items, and it's capped.

Good to know that they don't charge for chemotherapy! That would be crazy expensive over the years!

Indeed it would! Still much cheaper than America though.

Yep! There are certain things that make me want to live in America, but the healthcare system is a REALLY important factor in where I live, so I think the UK will be my home forever! Unless the NHS finally goes the way of the dodo....

What was the process to get it diagnosed? This seems like something that would take a while to think of. Like an episode of House.

Do you know what, when I was rushed into hospital with what we thought was a heart attack, I saw this one doctor, I can't remember his name, and he had an entourage exactly like House!

They even stood there doing a 'differential diagnosis', which made me smile, because it reminded me of that show. He didn't have a limp or a cane though :(

Anyway, back to the question...

It took a long time, because there is no simple test for it. You have a list of symptoms, and you have to get certain ones for a diagnosis.

You can also tell with CT scans of the cartilage, but apparently it is quite rare to find.

I remember the doctor that confirmed my diagnosis mentioned something about a 'train track' pattern on the cartilage rings in my airways, which confirmed I had the disease, and it had completely obliterated my airways :(

Sounds super crappy, but I'm glad you have a positive outlook! Was this a sudden onset condition, or have you been dealing with it for a long time leading up to your diagnosis?

Yes, it is pretty crappy! But I am still breathing, so I'm very grateful for that!

We aren't exactly sure how long I have had this for, looking back at my medical history, I have shown symptoms of this since I was two years old, but it will be very hard to confirm that. The life threatening symptoms presented themselves nearly three years ago though.

I will say, if I didn't have my wife, I wouldn't have such a positive outlook! She has stuck with me through all of this, no matter how hard is has been for us all!

How are your family and friends dealing with your disease? This must very hard especially for your wife and kids,I can't imagine what they are going through. But you sure have positive attitude,it is the right mindset to have :). I truly wish you the best,sir.May all the goodness and luck be in your way.

At first, we were all incredibly upset, as we thought I wouldn't live that long. But after some reassurance from specialists, and starting treatment, we started to be a bit more positive.

It can get very difficult for my wife, we have four kids in total, two of them are very young, so she has them to look after, and me as well. I'm hoping that I won't have to wait too long for the reconstruction, so I can finally do my part!

Thank you so much!

That's reassuring to hear :).I wish your wife and kids the best through it all.

Thank you :)

What changes have occurred in your life after you were diagnosed?

Mentally, I have stopped taking things for granted, and before all of this went down, I could get quite moody with my family. Now though, I am much more 'chill', although not perfect!

Physically, I am pretty much house-bound, because of the equipment I need to keep around me. (And I've put on a LOAD of weight because I can't move around much)

So what do you do? Read, games, watch shows mostly?

I spend a lot of my time on the computer, playing games, browsing Reddit. My wife and I watch a lot of TV shows together when the kids are in bed, Gotham, Doctor Who, The Flash and Arrow.

I do a little reading too, I have a load of hardback comic books, they're good to read :)

How do you keep fit?

At the moment I can't.

Exercise is impossible, I can't even walk up the stairs in my own home, and I'm on a fairly high dose of steroids, and have been for two years, so I have put on a LOT of weight recently :(

There are some ways you could maybe get exercise. I used to help a lady who had problems walking. She would use a machine at the gym that worked like a bicycle for arms. It might be a bit cost inhibitive though. You might be able to find a cheaper version on the internet for your home.

I will have a look, although the tracheostomy is like breathing through a 7mm straw, and my lower airways still collapse because the tracheostomy doesn't reach far enough, so it may not work, but I'm willing to try anything!

Do you experience any other adverse effects from the steroids other than weight gain? Wishing you a speedy recovery.

Apart from turning me into a complete BEEFCAKE (kidding) it has affected my stomach, and I did suffer from internal bleeding at one point, so I was put on ranitidine and esomeprazole, which seems to have sorted that out!

Hopefully, if we find the right chemotherapy drug that works for me, my doctor has planned on taking me off the steroids, which will help me lose the weight that I need to.

Since nobody is asking, what were the symptoms of this and what made you realize something was seriously wrong?

The main symptoms started about three years ago. I thought it was a chest infection, because I have had a lot of them over the years, but this time, my breathing did not get any worse, and I was constantly coughing.

I also had really bad joint pain in my knees, my thumbs and right index finger, and they were all swollen badly, and my ribs were constantly in agony.

None of those symptoms responded to any normal treatment, but I was only properly diagnosed with RP after one of the doctors looked at a CT scan of my trachea very closely, and noticed that the cartilage was destroyed, and it had 'train tracks', which confirmed the disease.

We knew it was really serious when I had a coughing fit, which led to me having a hypoxia seizure, and I ended up in ICU for a few weeks. That was a really bad time :(

Thanks for answering. What was so hard about breathing?

My issue is with breathing out. I can breathe in normally, but when I breathe out, my airways collapse completely, which can be very bad, as a build up of CO2 can be fatal.

At one point I had multiple hypoxia seizures, which was frightening!

What for you has been the worst part of living with your disease?

Not being able to do the things I would like to do with my wife and children!

I have these real bulky machines, one of them being a suction machine, and they are really heavy to carry around, and the battery doesn't last very long, so we are limited on how far from the house we can go.

Also, because of the destruction of my airways, I can't walk very far either. :(

A bit curious about how your kids are dealing with this? My Mom passed when I was three and my Dad died almost 5 years ago, I'm 38. My Dad never really talked to me about death and didn't talk to me much about my Mom. I hope you live a long healthy life, but I am wondering how you are preparing your children for the eventual?

At the moment, our two little ones are too young to understand it yet. They are one and two and a half.

I'm not sure how we would explain to the older two. They were very upset when we told them I was very ill, without going into too much detail.

I'm sorry to hear that. Maybe he didn't talk about it because it hurt him to think about? I know I would be completely heartbroken if I lost my wife. I wouldn't know what to do.

That is completely understandable with kids that age. It would be too much for them to understand.

They had broken things off for a while and she drowned under very odd circumstances the day before she was supposed to come back home. I have a feeling there was foul play and retribution so it was never discussed. It was all really hard to understand at three.

Glad to see how positive you are about this and I hope the chemo goes well for you to get you prepared so the surgery. I'm not sure I would have the same attitude so it's really good to see.

God, I'm really sorry that happened :(

Thank you very much! I couldn't do this without the support and love of my wife, she's been amazing throughout this whole ordeal!

Glad to hear you're reaching out to the community to talk about what's going on with you. It shows you're ready to make some changes.

Is there anything you wish your doctors or family would do differently to handle your care? Or do you feel like everyone has handled it pretty well. Not sure if my question makes sense or not...

Yes, I want to live as normal life as I can!

I had some issues when I first had the tracheostomy. I wasn't really shown how to look after it, and I was left without a voice, so asking for help was incredibly difficult! But it all worked out in the end :)

Do you have a speaking valve?

I do, they double as a HME as well, but because my larynx has collapsed, I can't speak at all. :( We noticed my voice was changing over the past few years, but we thought it was because I couldn't pass much air over my vocal chords, not the fact that my larynx was slowly collapsing :(

Do you have any neurological symptoms? How long were you having symptoms before a diagnosis was made?

I don't think the disease itself has caused any neurological issues, but I do suffer with depression, but that is because of the drastic changes to my quality of life (or lack of).

Looking back at my medical history, I hay have had this disease for over twenty years, but it will be really difficult, maybe impossible to confirm, but the major life changing symptoms started about three years ago, and even then, it took over two years to fully confirm what it was.

Do you speak any Welsh? My family in South Wales speak very little compared to the northern ones.

How much time do you see yourself spending in hospital in 2017? Have there been any outstanding medical professionals who have made all the difference?

No, we have a reversed language house... I'm welsh and speak English, my wife is English, and speaks Welsh! Hah, most people in South Wales hardly speak any Welsh at all, it's quite funny, lots of Welsh Pride, but no language, hah.

If last year was anything to go by, probably three months, maybe more. My tracheostomy needs to be replaced every six months, and when I have surgery, there are always other complications, usually one of my lungs collapse, and I get bad pneumonia, so I'm there for a long time, for what usually is a 'simple' procedure.

Yes, two people come to mind. 1. Dr James Hull from the Royal Brompton Hospital. He is a respiratory doctor, who specialises in Relapsing Polychondritis. He knows a lot about this, and was very helpful when I saw him.

1. Mr. Guri Sandhu. He is a talented ENT surgeon, and looks after a lot of singers, using laser surgery, and other high tech stuff. He has carried out all of my surgery so far. He is the one who will be taking cartilage from one of my ribs, and making a new larynx out of it! I was very impressed with what he can do :)

So you're basically always having a relapse?

No, the disease will 'relapse' by attacking the cartilage in your body for a while, and then it will go into remission, but it will always come back unless you get it under control with chemotherapy.

Also, the damage that it does is not reversible, so a relapse can be life threatening!

When will you get it under control with chemo? Hopefully soon?

It's hard to tell. I'm on methotrexate at the moment, which has helped, but it appears to be affecting my liver, so my doctor is looking to change it for something else.

Hopefully we will find something that works well, without serious side effects!

Are they going to try biologics soon, like remicade or stelara?

They have mentioned remicade before, but because my symptoms were so severe, they wanted to start with an aggressive chemotherapy session first, and then see how things go from there.

People can do both. Many people with autoimmune disease take methotrexate with a biologic. It helps prevent building antibodies to the biologic itself over time and helps the biologic work better. I dont know your disease specifically but I have crohns disease and I have personally used both an immunsuppresant and a biologic at the same time. The biologic did what the immunesuppresant couldnt and saved my colon from being removed. It also closed up all my fistulas in days.

Wow, I will have to mention that to my rheumatologist!

It's very difficult, because the disease is so rare, he is getting most of his information from the internet, and from the other people looking after me, so it is hard for him to find the right thing to do.

Definitely worth asking though, thank you for the suggestion!

Is your crohn's manageable at the moment?

Well, remicade worked miracles, but it gave me drug induced lupus after about a year, which went away thankfully when I stopped the remicade. I then went on steroids and increased my immune suppressant and found remission for a few more years. Then I started flaring this summer. Currently I my disease is under control using cannabis, low dose naltrexone (another treatment for autoimmune disease but its not a an immune suppresant), and The Specific Carbohydrate Diet. I will be weaning off the imuran over the next 6 months to give my liver a break, and hopefully maintain remission with just the cannabis, LDN, and SCD diet. Should I flare terribly along the way, I wont hesitate to use a biologic again, but I am saving that for emergency measures because these drugs are great, but I noticed eventually they all stop being effective. Its a delicate balance because on one hand I dont want to run out of options, but on the other hand I have almost died from this disease a couple times a long the way.

I have friends with lupus and other rheumatoid arthritis that say the Autoimmune Protocol diet helped their pain and inflammation. Although I am not sure what you can eat with your specific condition.

ETA: Drug induced lupus is a super rare side effect, so dont take that as you shouldnt try it. Many people are given their lives back with biologic therapy. As I said, if I got super sick again, I would try another biologic.

My diet is unchanged luckily, but I am on a seriously low calorie diet to try and lose weight, years of steroids have made me put on a load :(

The chemo seems to be affecting my liver too, but time will tell as to how severe it is.

The pain and inflammation isn't so bad at the moment, it's just the damage it caused is so severe, it could take years to get to breathe normally again.

Still, I'm alive, and I appreciate everything the doctors and surgeons have done so far!

I too am on methotrexate. I also get monthly infusions of Actemra. I have rheumatoid arthritis which is also an autoimmune disease. I have joint destruction in my wrists and feet and pain everywhere. I had to quit my job as a registered nurse. I HATE methotrexate, makes me ill! Does anyone else in your family have the same disorder you have, or any of your ancestors?

Wish you all the best! My ancestors are from Wales! I would love to visit but seeing as I don't have a job I don't think that will happen!

Urgh, me too, I feel so sick afterwards! I have just had my dosage increased too, and it made me feel worse, so I think they are going to give me injections instead, to see if that helps with the sickness.

Yes, I know the feeling, I have rheumatoid arthritis in both my thumbs and right index finger because of this disease. It has also caused costochondritis too, which is awful!

No, I am the only one, and apparently it isn't genetic, which is good, because I would be devastated if any of our children have this. I wouldn't wish this on my worst enemies!

I'm sorry to hear you had to quit your job. I had to leave mine too. :(

Wales is a beautiful country! You never know what the future holds, so you may be able to visit :)

Would it be possible to replace your damaged cartilage with 3D bioprinted materials? I know the technology is still in the beginning phases but there are FDA approved materials. Also would it be possible to receive gene therapy.

Good luck. I wish you the best.

It can be possible, as long as the disease is under control, which it isn't yet.

I'm not actually sure about gene therapy! Because my disease is so rare, my doctors need to research treatments and things, so it can be a slow process.

Thank you :)

do you have arthritis as well?

Yes, in both thumbs, and right index finger :(

Do you research what chemicals they use for your chemo or is that knowing too much?

I've heard like aqueous platinum and things like that? Scary. You're very courageous.

Yes, I research some things, but my wife looks at everything in full detail. I think it's because I want to put my 'head in the sand' and be ignorant as to how bad things can get.

But sometimes I do like to know what side effects I could possibly have, just to be prepared.

I suffer from Polymyositis, an autoimmune disease that effects my muscles. I've having to take immunosuppressant meds but also combine it with immunoglobulin/IVIG infusions. Have you tried IVIG also?

I'm sorry to hear that :(

No, I am on my second round of chemo, and they have been talking about changing it again, but it is all trial and error.

I've never heard of IVIG, I'll have to look it up and discuss with my rheumatologist.

Does it work for you?

It does!! Like you said previously, treatment works for different people. IVIG is used to basically add some healthy antibodies into my immune system to fight off my dumb ones. It's expensive but it works for me out of all of my treatments (so far). Definitely talk to your rheumy about it!

Amazing!

It's definitely worth a shot, a few people have suggested a few things, so this AMA has worked out quite well!

Awesome! In glad to help in any way. It's so cool that your disease and mine sound so similar in name too! I'm barely 29 so I understand what it's like to be young and dealing with all of this. Just remember to stay positive and enjoy life!

Yes, it is kinda cool :)

Staying positive is a must; no one knows how long they will be here for, so we should take each day as they come, and be as happy as you can be!

Has being diagnosed changed your view on what's most important and valuable in your life?

Definitely.

At first, I was told I only had 2-4 years left to live, and I had been really ill for two years, so we thought I wouldn't be around for very long.

Luckily, it isn't the death sentence that we were told, and as long as the chemo works, then we can start rebuilding me!

But I spent a quarter of last year in hospital, and I had a lot of time to think about life in general, and I realised that I wasn't the best husband or father I could be, so I decided that when I come home, I need to be a better person, not just for me, but for my family too. Nobody wants to be around a grumpy person. Life is too short to upset the ones you love!

Were you a smoker ?

I smoked when I was very young, 14 I started. But as I got older, I stopped and started, and then finally quit for real about six years ago.

Have you tried ingesting Cannabis oil as an edible? It seems to be highly beneficial for those suffering with autoimmune diseases.

https://www.hellomd.com/health-wellness/can-cannabis-help-autoimmune-disease-sufferers

I am a member of some tracheal stenosis support groups, even though the cause of my stenosis is completely different, the symptoms are the same, so is the treatment.

Some of the members there use CBD oil, and it helps them breathe easier, as they say it is a bronchodilator.

It is illegal here in the UK for now, so I think I may have to wait a while to be able to try it out :(

How does this impact your ability to swallow? Are you seeing a speech therapist for swallowing/voice with speaking valve? Thank you for sharing with us! I wish you the best with treatment and hate that this is happening to you.

When I had my trach, I found it nearly impossible to swallow, so I had to be taught a new technique, which took some getting used to.

I can eat and drink normally now, but I burp a lot because of the way I swallow now.

I have tried a speaking valve, but because of the collapsed larynx, I can't pass any air over my vocal chords, so I am completely mute for now.

My surgeon has plans to reconstruct my larynx using cartilage from one of my ribs, but we need to control the disease first.

Thank you!

I am soon to see an immunologist regarding a recent discovery of low IgA. I highly doubt I have what you do or anything close, but out of paranoia and curiosity, what was it that made the diagnosis confirmed?

Normally, you need to have a bunch of symptoms that match a list, but one specialist I saw looked very closely at a CT scan of my airways, and noticed 'train tracks' in my cartilage rings that were damaged. That is what confirmed the disease properly for me.

Hopefully, you won't have anything serious! I hope all goes well for you :)

Hey Dan. I don't really have any questions for you, but I'd still like you to see this. I'm just a teenager and in no way have I ever been in a situation that comes close to this, so I don't mean to come off as stuck-up or anything. But I just want to remind you that everything will work out in the end. In fact, this could be an opportunity, because you now know that life should be cherished as much as possible. I want to encourage you to have fun and make memories just for the hell of it, and show your disease that it can't stop you from being amazing.

It seems like you've really gotten the positive attitude down already, so maybe this hasn't helped much, but I just wanted to give my two cents.

This is actually pretty inspirational to me, and I appreciate that you've kinda helped me in a way. If you're so positive at a moment in your life like this, why shouldn't I be?

Anyway. Thanks for reading this, and best wishes :)

Thank you for your kind words!

Before I had the surgeries in London, I was very grumpy, and wasn't a very happy person. Being in hospital 400 miles away from my family was an eye opener, and I realised I wasn't the husband and father I should be. So when I came home, I have been trying my best to be happier, because our lives are hard enough, without having a big grump in the house!

I'm glad that I have helped you in a way :) That's awesome!

Thank you so much :)

What is one thing that you can't do because of your condition that you have always wanted to?

Prayers and thoughts are lifted to you!

Go on a proper honeymoon with my wife!

I started to get very ill just before we got married, and I was in hospital just before our wedding day, luckily I was discharged about a week before!

Thank you so much :)

How have you adjusted to your "new" way of breathing? I work with a trach patient and she's quite incredible. It's always interesting to hear the different sensations that suctioning causes for different people. Are you a frequent suction not so often? Is the trach hard to deal with?

It took a while to adjust, as I have always had a fear of suffocating, and when I came around from having it done, I felt like I was suffocating :(

Hah, I remember the first time I suctioned, it was crazy! Now I can barely feel it from the inside, which is good.

Unfortunately, I suction all the time, because the trach can't support all of the damage, I still have some collapsing airways, which means I suction constantly :(

The only thing I find hard to deal with is the constant suctioning, it makes doing things very hard, if not impossible.

And I miss showering properly! I have to point the shower at my lower body, and my wife washes my hair, but I really miss having a proper shower :(