First Rheumatologist Appointment - Looking for a Diagnosis

WorriedMom

Hi Everyone

My 23 year old daughter has been waiting for almost 6 months (even though her GP asked for an emergency appointment) for her first rheumatology appointment which is this Tuesday.

We were worried that it would be cancelled altogether because of the coronavirus. However, she was called last week and told that the consultant will call her on the phone instead of a face to face appointment.

She is desperate for a diagnosis, with the hope that she can start the correct treatment. She is prepared for the prospect that she may not be cured.

Has anyone got any advice about preparing for the consultation? Should she be asking for specific tests?

She has waited so long for the appointment that she feels that her quality of life really depends on the outcome of a 10 minute telephone conversation.

She is a professional netball coach and a very keen player, so her whole life will be turned upside down if her symptoms get progressively worse due to a lack of the correct diagnosis.

Her symptoms are;

Unable to take a full breath of air without pain (not coronavirus - she's had this for about 6 months)

Sporadic racing heart rate - at rest her heart rate will just jump to 160plus

Excruciating pain in her upper right side (been to A&E 3 times over last 6 months - nothing found)

Extreme Fatigue (she can fall a sleep in a chair as soon as she sits in it - fights to stay awake)

Bone growths on the end and middle joints of fingers 9progressing down to her knuckles now)

Painful crushing feeling in hands

Hot painful wrists

Hot painful knees (very painful to walk up stairs)

Painful Hips

Itchy Rash (seems like it is caused by sun - but not sure)

Itchy Scalp

Hair falling out (thinning - rather than bald patches)

Sporadic ringing in her ear

Coiled rash (just once about 18 months ago)

The above symptoms gradually started when she left university 2/3 years ago

Medical History

Always been a well child.

Vegetarian (since the age of 7) - recently diagnosed B12 deficient and vitamin D insufficient (just start supplementing).

Family History

Her Dad's Thyroid stopped working in his early 20s (don't know why - he takes levothyroxine). Also in his twenties he had a blood clot in his portal vein (which was stented) and a few years later he had multiple Pulmonary Embolisms (reason for clotting not known). He has arthritis in his big toe, which he has just had a cheilectomy done - he hasn't had any other arthritis diagnosed.

Her grandad has coeliac decease, which he was diagnosed for 2 years ago (spent months in hospital very poorly - but now recovering with a gluten free diet). He also has gout.

Any advice would be very much appreciated - do you think it is worth my daughter mentioning the family history?

Does anyone know if the consultant will look for any underlying causes other than arthritis that may be causing the above? We are hoping that they will find she has something that can be treated and that the above symptoms disappear! Or will the consultant just medicate her for arthritis?

We are totally new and green to this - and my daughter's biggest concern and worry is that this is just going to get worse 🙁, as her symptoms are definitely becoming more painful and severe.

Sorry for the long post.

Worried Mom

YvonneH

Hi WorriedMum,

Don't worry about the long post, it’s comprehensive and all there ready for any questions the consultant might have. Here is our booklet regarding arthritis

https://www.versusarthritis.org/about-arthritis/conditions/arthritis/

I think putting your daughters symptoms in order with the latest first and for those that have stopped try and work out how long they lasted. It’s possible not all symptoms are linked to her condition. Has she had any blood tests as yet? They can help with diagnosis so if not the consultant may ask for specific tests.

If you can take photos of swelling in joints or any rash they can be sent to the hospital.

It could be helpful if your daughter kept a pain/work diary to see if there are any links between them, you could also link what she does about it eg apply heat or cold to a joint, take pain relief, relaxation, distraction.

I hope that helps, the consultant will be trying to diagnose what’s wrong rather than trying to fit her into a particular arthritis group. Please don’t worry on that issue.

Let us know how you get on

Yvonne x

WorriedMom

Thanks for your time Yvonne.

So nervous for the consultation tomorrow - really hoping that we get a consultant who will take the time to listen.

felicityh

How did the consultation go? xx

louisealice

I first started symptoms out of the blue almost exactly three years ago as of last week, when I was 49.

I had no history and rapid onset.

Trust in your consultant - mine was brilliant. He asked me so many questions many of which I couldn't understand the relevance of! Don't be worried: they'll not just go with the first diagnosis. Because my "presentation was unusual" I had so many tests I can't even remember them all. And as I reacted or didn't respond to various medications, my consultant did more to ensure he was on the right track.

obviously the Corona pressure will cause disruption to the rheumatology service along with every other. But my experience was that once you are with the consultant he/she will refer you for anything they think relevant.so even if you are delayed there will be follow up

I'm very much a newbie in comparison to others on the forum, but maybe that makes me identify with your daughter. I can remember the feelings your describing like yesterday. I kept waiting for the next week or month when I would return to "normal". All I did by doing this was bring myself down every time I had a set back or had to move to other drugs because of side effects. I'm doing comparatively well now and stabilised for the last 4 months on a new biological treatment. Best advice I got was - take it a day at a time, celebrate the good days and don't ever not ask a question because you think it's stupid or foolish - if you don't understand it's the professionals' job to explain it.

I hope it went well today for your daughter.

Louise