Hello, (for some reason there seems to be parts of this message that have been duplicated multiple times.. I have tried to fix it but it hasn't worked, apologies in advance). I have not been formally diagnosed as yet, but I suspect I may have this rare disease I had not heard of until a few days ago. I'll give you a little background to my story, any advice is appreciated! I'm 41 years of age and when I was 30 I started with dry eyes. When I was 37 my eyes were so dry they started causing corneal erosions. I had some blood tests taken to look for autoimmune disease. I had a positive ANA come back but negative ENA. A quick trip to a rheumy and I was told "wait and see what happens, come back if you develop other symptoms". Also at the age of 30 I developed what I thought was rosacea, however my rosacea was also on my chest and neck. Also starting around this age, and becoming much worse now was a wheeze. I thought this was strange as I never had asthma as a child and I am also extremely fit ( I am an exercise physiologist). However a lung x-ray was apparantly normal at the time. Years on a my wheeze is now also a cough which awakens me at night on many occasions. In the last 2 years I have also developed a low grade fever that comes on in the afternoon/evening. I've had the odd doctor comment or raise an eyebrow when taking my temp and I've always said I felt well so didn't worry.. too much. I'm scheduled for a CT to check my lymph nodes however my doctor thought my fever could be due to autoimmune disease. A few weeks ago I had some bloods taken again just to check up on the status of everything as it had been a while since the autoimmune thing had been looked at, and given my temperature and some fatigue I'd had it was worth a check. The results showed a low c3/c4, as well as anti-Jo-1 antibodies. ESR & CRP normal but I'm not a very inflammatory type of person, even when I am quite unwell those markers are low. My doctor mentioned possible dermatomyositis and/or polymyositis and I see a rheumatolgist on Tuesday. He asked me at the time if I had any muscle pain or weakness and I said no. However.. upon reflection I thought perhaps I have. I have always been very slight in frame, however have been able to build muscle if I really work at it. Four months ago I decided that as I am getting older I would start a strength training program to try and build some muscle as I do an awful lot of cardio, probably too much. However despite working extremely hard (and cutting back on cardio) I look as puny as I did before. I thought it strange that there had been no muscle growth, and if anything I struggle with my strength immensely. I know I've followed the correct protocol for muscle gain as I work in this field professionally. In terms of breathlessness I do not really experience this. As I said the only respiratory symptoms I have are a wheeze and cough, albeit worsening in the last 12 months. My skin however is very red. I do not have mechanic hands, although my fingers itch on the top daily and sometimes develop red bumps, but these go away. I suppose my main questions are would a rheumatologist start me on medication without being as ill as some of you on here are? I"m not really sure if there is anything to do as yet, mind you my fever isn't normal that's for sure. Also, is it possible to have anti-Jo-1 antibodies and not have this disease? Although I think I may have it but be in the early stages. My skin is very characteristic of the DM rash in my opinion. If you've read this far thank you, I will keep you posted with my upcoming appointments :) Monika

Hi Monika, I think if you have the antibodies, then it's pretty certain you have anti synthetase, I think quite a few people have symptoms and know they don't feel right but it takes a long time to get a diagnosis. I had a thunderclap of several symptoms and was diagnosed within 4 months of onset, lucky to get a quick diagnosis, not so lucky with the damage to my lungs. I wonder if we have the genetics for this disease, but it takes an environmental trigger to set it off? I don't know what your rheum would suggest, maybe regular monitoring especially of your lungs, and hold off the toxic meds until they're really needed (hopefully never?) good luck and stay well :0)

Hi Alison, That's awful to have it happen so quickly, I hope you are managing well now. I've done some research and it seems that several genes are involved with the antibodies, one of them being the HLA DQA1 05 gene. I know I have this gene as they found it when I had a genetic test for coeliac disease (I don't have coeliac disease). Yes for sure there must be environmental triggers that then set this all off, or even viruses. At what age did your symptoms start? From all that I've read it seems to start around age 50, but some people on the forums are much younger.

Hi Monika, I was 42 when I was diagnosed., I've been lucky with my response to medication, and am doing well. I also have coeliac disease diagnosed when I was 36, my family has lots of type 1 diabetics & coeliacs so I know we have the genetics for auto immune disease in the family, trust me to be different and get a really rare one!

So glad to hear you are doing well! With regard to CD it is rare (but not impossible) to have it with my gene as I only have half of a full gene. So here I was thinking I got lucky, just to read yesterday that the gene I have gives me this disease! However you have both CD and ASS, my heart goes out to you. Thank you for your replies. I see the specialist on Tuesday, I will update for sure!

Hi Monika, I was like Alison with an acute onset of 2 or 3 months but was lucky to have requested a specialist opinion which started as a two hospital investigation which turned into a 9 month life and death hospital struggle. You talked about muscle and joint pain - I could not stand or walk for more than a minute or so by the time I entered hospital. My lung capacity in ICU on BiPap was under 20% and I did have red swollen hands, Raynauds and Mechanic hands. I believe that with the antibody in your system you will be diagnosed With Anti Synthetase Syndrome but I would definitely be cautious of the breathing issues as it can turn and develop very quickly. I was unlucky that the chemo did not stop the lung invasion immediately, hence my month in ICU on a BiPap. I am extremely lucky to have survived and am thankful to my hospital team. Just be aware also that many extra difficulties arise from this disease and the medication. I now have severe Osteoporios having had 6 fractures because of the Prednisone which saved my life. I have nerve damage in my leg, suffered 2 DVT and have to stay on medication for a very rare infection that gave me 5 skin lesions that took 12 months to heal plus travel to your lungs and brain. Monika I hope your investigations travel a smooth course and if on medication it stops any progress and gets everything under control . Good Luck on Tuesday. Lisa

Hi Lisa, Reading your story sent shivers down my spine. I feel so grateful on one hand that this has not happened to me however am also worried that this may also happen to me like it has to a few of you. I wonder if my doctor will even put me on steroids at this point given I am very fit and not breathless. The only symptoms I have in terms of possible lung involvement are wheezing and a cough which has increased in the last 12 months (and were never present before). Having said this I wonder if a wheeze is even common in ILD, I have read that only a cough and breathlessness is. Did you experience a wheeze at all? In any case I suspect the doctor will order some kind of lung function test or ct scan perhaps to see if I have any lung involvement. It seems that some of you had your lung issues first and then found out about your anti-Jo antibodies, perhaps you had them for a while and did not know. I wonder if I have found them early and could still be in danger down the track, I am 41 years of age now. As I said my main issue has been fevers, dry eyes and mouth (sjogren's disease) with muscle fatigue, but nowhere near as advanced as some of you. I am concerned about steroid treatment as I have already sustained a fracture from my running 18 months ago. I am due to have a DEXA scan to investigate my bone density, steroid treatment will only make my bone density worse. Hopefully I can stay off meds for as long as possible. Thank you for sharing, I wish you all the best and I will keep you informed of my outcome this week :) Monika

Hi Lisa, I can also see that you are in Australia, so am I. I live in Melbourne :)

Have your CK (checked which is one of the main markers for this disease. My CK was around 8000 at dignosis, I too went to the gym quite often before being struck down.

Fortunately my CK levels were normal when they were tested 2 months ago. I just read your profile lil dreamer and am amazed yet again how quickly this disease can strike. You mention you had lung scarring at base, did you have any breathlessness or cough, or just muscular symtoms?

Diagnosed only 18 months ago with antisynthetase I wish you well in your quest to get to the bottom of your health problems Monika. So far I am very well and my advice would be to do what your doctor says to the letter (that is if you have faith in them), exercise and eat healthily. Sorry to sound like a mum. Good luck. y

Had next to no breathlessness except for one particular occasion when running about 100 meters which was strange for me as I have always been relatively fit. No cough until about 8 months into the disease which could have been nothing more than a cough, who knows, the disease plays trick on your minds. This lasted a couple of months. As the prednisone doses reduced I didn't know if was in my head or I was just very conscious of my breathing but I do feel breathlessness from time to time. We have a facebook page mate, where there are sufferers with a wealth of information.

Monika, Sorry you've been going through so much. Glad you found us. The one thing I've learned about autoimmune disorders is that there is no typical presentation. That yours has been gradual is good. The key to reducing the damage is to treat it early and aggressively - before things become exponential. Request a pulmonary function test to get a baseline as ASS does like to go towards the lungs. And then yes, your doctor should treat your symptoms as they are a sign that your immune system is in dysfunction. If you shut it down now, hopefully you will never experience any of the other manifestations of ASS.

Hi everyone, I visited the rheumatologist today and he has diagnosed me with sjogren's syndrome and mixed tissue connective disease. This was based upon my dry eyes and mouth, rash, chronic fever, raynauds, and muscle fatigue and weakness. He has ordered a CT for my lungs as well as a lung function test to assess whether my wheeze and cough are due to asthma or possible ILD, however he felt this should be clear due to not hearing any sounds on my chest with his stethoscope today upon examination. I asked about the Jo-1 antibody, and whether this meant I had antisynthetase syndrome and he was vague on this, almost like his wasn't sure, or maybe he was and didn't want to share any further, who knows! Does anyone here know what you need to have to be diagnosed with ASS? Do I assume I have it just from having the Jo-1 antibody and my presenting symptoms? The literature is also very vague on what the diagnostic criteria are. Thank you all for your comments, I managed to get a CT scan tomorrow thank goodness :) It has been very reassuring coming here and seeing all your comments. I will join the facebook group for sure and yes I do look after myself but is is very good advice so thank you zione! :) Monika

Jo 1 is a pretty good indication and you will find that because this disease is so rare, you will get a lot of ummm answers from the Dr's as they know probably as much as we do. Good luck with your scan and hope you get some answers.

Thank you, lucky I won't have to wait long for answers, I'm not good at waiting! Great to know about the Jo-1 and ASS, thanks for getting back to me.

Hi Monika, I'm so sorry about you getting to this stage and finding this gene, hopefully, your journey will be a nice gentle one. My husband has Antisynthetase and then was diagnosed with Lupus and Sjorgen's (which is why his eyes were super dry). He had what we thought was just a mild chest infection, that's all that showed on x-rays initially. Just over a month later x-rays showed severe interstitial lung disease and his lungs had lost just over 70% of their ability to exchange oxygen. We were told he wouldn't make it through the next few days. Until then he had only been sick twice-ish in our 18 years together. He was 46 when this started. 16 months later we've just had him home for a month now after spending 4 weeks in hospital, some of that in an induced coma on life support. He just picked up a minor bug and his immune system went nuts. Again, I was told to tell our kids he would likely not last the 24 hours out. But he's a fighter and loves to be right. So he proved them all wrong :) I don't mean to scare you, my hugest apologies if I do. Just please be so incredibly careful if you start to get chest symptoms. The lung side of things can be so well controlled and even halted in most cases. IF it is discovered and treated early. Don't be afraid to be pushy if you need to. This is your life and wellbeing. I hope you get to the bottom of all this quickly, I will keep you in my thoughts and prayers. xoxoxo

Hello Ellie, What a fighter your husband is. How frightening for all of you. I hope he continues to fight and get stronger everyday. I am a fairly pushy person when it comes to my health so I intend not to let anything go that's for sure. It is very helpful having people let me know what to look out for, doctors are not very communicative at the best of times. Thank you for your well wishes, I will let you all know how my CT lung scan goes, I am hoping all is clear. It's tomorrow so I don't have long to wait. Monika xx