Path To Diagnosis: Can anybody offer some advice?

[Rachblack1972]

Hi My name is Rach. After 35 years of dragging myself through life every day in agony and exhaustion, I was finally diagnosed with Ehlers Danlos Hypermobility Type and Fibromyalgia. All three of my daughters have since been diagnosed by Professor Rodney Graham. Postural Orthostatic Tachycardia has also been thrown into the mix. My diagnosis came about after having three early stage {A positive test turning negative within two weeks} and a further miscarriage at 11 weeks of pregnancy. The following month I fell pregnant again, this time succeeding to carry my child full term. After three months the pain and exhaustion got so bad I begged my GP to find answers, which got the ball rolling to the diagnosis above.

Now, I started to have some extra symptoms... Constnant sweating from my face where I’d be totally drenched. A rash across my cheeks which brought me to a dermatologist who gave me an anti-biotic {which doesn’t work} fits of daytime sleepiness where I’d be conscious enough to hold conversations in gibberish, which led me to a diagnosis of Sleep Apneoa. Sudden Vitamin D Deficiency which caused my left leg to balloon in size. Though the treatment worked, within months the leg ballooned again. The doctor wanted to fob me off with compression garments. But I began taking pictures and a detailed log of my symptoms and when I showed a different GP, she agreed a trip back to Rheumatology was probably needed.

As I said, I was taking pictures and in every image of my face, I began to see what looked like a bone white moth with its wings half open imprinted across my cheeks. I’d heard of Lupus so I started to do a little digging. You see the rash that spreads on my cheeks happens when I have a hot bath. And I didn’t think that the Malar Rash could be caused by a hot bath. Next time I got in the tub, I had my daughter photograph my face at intervals and lo and behold, a red rash became visible across my cheeks and the bridge of my nose.

Flash forward to the Specialist appointment; I read out all of the new symptoms and showed him dozens of pics I’d taken determined to prove something is wrong. I’d been dismissed by Doctors all of my life. He listened, ordered tests; Serum Protein Electrophoresis, ANA by Eliza and Immunoflourescence, Complement Levels, Direct Anti-globulin Test, Antiphospholipid Antibody Test and Urine PCR.

The results have come back to me drip fed by addendum to his original letter. This is where all the confusion is for me and why I’m asking for your help and expertise.

The Urine PCR was normal. The Complement and Immunoglobulin levels were normal. The Direct Coombes Test was negative. This I understand. But then, my blood was positive for Ro Antibodies. The Specialist went on to say how interesting the results of the ANA IIF would be. The ANA came back Nucleolar. The Specialist went on to say that if the APLA is positive, this may still be a. CTD even without the other immunological markers. And of course the APLA showed the presence of Anti-Cardiolipin Antibody, though he states it’s at a ‘Low Titre’.

I’ve long realised that fellow patients often provide the very best advice. I’d be thrilled if any of you would take the time to chat with me about all of this. I thought that getting the EDS diagnosis in 2010 would open doors to treatments and therapies to help me to bear the constant pain and maybe give me back a little quality of life. Instead, I have been yanked up with pain medication and left to get on with it all. And I’ve had to fight the system tooth and nail to get that. I want to make sure that when I go back to the Specialist next month, I know what I’m talking about and what to expect in return.

I am so, so sorry for this long and boring post. I apologise Mods and I hope I’m posting it in the right place. If I have left anything out, please feel free to ask. I am grateful for any help you guys can give.

Have a good day everybody🙂

Rachblack1972

[baba]

History of miscarriage and positive anticardiolipin antibody,could be Hughes Syndrome.

For information on Antiphospholipid/Hughes Syndrome/sticky blood see the following, very informative, helpful sites:

healthunlocked.com/hughes-s...

ghic.world

Best wishes

[Rachblack1972 in reply to baba]

Thank you baba. This information is very helpful🙂

[whisperit]

Hello Rachblack92

My understanding is a bit too simplistic to deal with the tests/results you mention, and I'm not clear what your ANA test result is - does it show a high titre?

You have probably seen the LUK leaflet on symptoms and diagnosis? It's a good way of organising ones thoughts about the key markers. lupusuk.org.uk/wp-content/u...

Otherwise, I can only suggest some general things for when you next see your rheumy. First, try and get hold of all the results you do have beforehand, so that you have some idea of what you do and don't understand. Second, try to pin him/her down to explaining exactly what s/he thinks is the explanation for your symptoms, and what the options are for treatment. Third, try to be very clear about who is going to take things forward, and what you should be looking out for in case things seem to be going wrong.

Hope all goes well x

[Rachblack1972 in reply to whisperit]

Thank you whisperit for your kind reply. I have yet to see any information regarding Lupus and other CTD’s. I try not to rely too much on the internet because you can’t be sure where it’s coming from or whether it’s accurate. I’ve felt so badly I’ll for so long. I’m just hoping that there is treatment available that will make my life a little more bearable.

[whisperit in reply to Rachblack1972]

Well there are certainly treatments for most autoimmune conditions that can work really well for many people. You are right to be wary of random internet sites, of course - but all the leaflets on the "home" page of the LupusUK site here are excellent x