Struggling with Diagnosis

[StormLeah]

I'd like to apologise in advance for maybe a bit of a long ranty post, this seems like a wonderful community and I could really use some third party opinions on my situation. And for some context I'm a 26 year old, caucasian South African woman.

I'm currently suspecting having an autoimmune disease or having lupus more specifically - it's a bit of a long varied medical history so hard to know where to start.

I started with my first symptoms at 15 years old I started getting severe kidney infections, about 3-5 a year with at least two hospitalisations a year which continued on for three years. I started carefully managing diet, liquid intake and multiple supplements to control it and managed to bring it down to about two kidney infections a year which I treat very quickly now I'm so familiar with them.

It's about this time I started to develop a lot of pain in my hands and my wrists. My hands would always seize up if over used and they were incredibly weak - have been ever since then.

About four years ago now I started to develop chest issues, the first flare up of this started two days after a very stressful breakup. I was hospitalised with chest pains and diagnosed with Costochrondritis - the doctor said she had never seen someone so young with it and that flare up lasted over a month. I've then had regular and ongoing flare ups since.

A year later I started getting even sicker, beyond fatigued. I was coughing up blood daily, doing daily peak flow readings of 400 at this time and my lung function was very poor. With decreasing health and all the doctor's unsure with what was wrong I left my job and rested for a couple of months before going to work again.

Still with ongoing shortness of breath, chest pains and poor lungs function I kept doing tests and visiting respiratory specialists. I've completed four full lung function tests for asthma and each one has come back inconclusive.

I have been told over and over that they're unsure what is wrong and given asthma treatments anyway to see if there might be any improvement.

At this point the amount of symptoms started to skyrocket.

- X-rays showing a lot of inflammation all over my lungs

- Costochrondritis at almost a constant, the worst it's ever been

- Severe fatigue and tiredness

- Insomnia, only managing about four hours sleep a day with scattered naps

- Headaches and intense migraines

- Started to develop frequent dizziness and regularly falling because of this

- Intense fevers and temperature irregularities, I get so cold multiple duvets and blankets still leave me shivering

- Joint pain - specifically in hands/wrists and now experiencing in knees and ankles

- Swelling in those areas, most noticeable swelling in my feet and ankles

- Severe rashes on my neck and face, but dark spotty rashes

- Light sensitivity to sunlight and bright fluorescent lights

- The continued kidney issues I've had for ten years

- Tingling sensations and pains in my legs regularly

- Constant nausea and reflux

- Then very recently developed shaking in my hands which used to be unbelievably steady.

- On top of all of this my biological father did have MS which I understand can have genetic links to certain diseases.

So come September, while having all these symptoms my health took a very steep turn for the worse. I was rushed to A&E unable to breathe. Spent the whole day on breathalysers until they could make me stable.

At this point my peak flow was measured to be 100-200, with the amount of inflammation in my lungs along with how much liquid they said they would be unable to determine cause. So I went on treatment for chest infection.

Note at this point my heart rate is first noted as being at 100bpm at resting, 130bpm at walking. Which it has stayed at since, most recently recorded two days ago. My blood oxygen levels completely normal though, just difficultly actually breathing and so much chest pain.

Since this hospital visit, I have been to doctors weekly. No improvement on peak flow or lung function, heart rate staying extremely high. Two chest infections back to back. All symptoms previously mentioned worsening.

Blood work shows high Platelets at 400+ which has been tested three times.

White blood cells elevated but still under normal range.

IgM high at 2.20

Eosinophil high at 0.63

My respiratory doctor who I saw last week dismissed all my other symptoms and told me that I am this sick due to allergies. He said to remover allergen cause from my contact and I should start to get better in up to a year's time.

I went back to my GP and we discussed further all my other symptoms that couldn't have anything to do with allergies. We went over the possibility of Lupus and as my symptoms have been worsening- a lot of my blood results reflect risk of blood clot so with me coughing up blood and my legs being swollen; she sent me straight to hospital to screen for a blood clot and to also do immediate testing for lupus.

I just received my ANA blood test result last night and it came back negative. And in all honesty I've been absolutely devastated about it, I finally felt like a doctor was listening, had sent me for new tests and that we were getting somewhere and after that negative I'm feeling very unsure. I know a negative result can still result in diagnosis but my already low odds have decreased further.

Having exhausted all routes of NHS diagnosis of what's wrong with me I'm turning private to attempt to make sense of it all. Having been dismissed so frequently and turned away by so many doctors unsure what's wrong with me I'm really struggling to remain hopeful for any kind of answers or diagnosis.

I was really hoping by writing out everything someone with similar experiences would be able to offer some advice and reassurances. Or at least be able to make sense of my symptoms and help point me in the right direction.

Thank you for anyone who took the time to read, I am desperate at this point. Having been basically bedridden by everything, having lost my dream job and had my whole life put on hold - I'm just desperate for a diagnosis so I can start to get better and get my life back.

[KayHimm]

StormLeah -

You have been struggling for a long time. My thought would be that the lung doctor knows you have asthma and is not seeing signs that make him concerned about autoimmune disease affecting your lungs. They get frequent referrals for patients with autoimmune disease and have to know a lot about diagnosis and treatment.

Have you had allergy testing? This could help you to avoid triggers.

If your GP sees other signs of autoimmune disease. they can refer you to a rheumatologist and continue to do blood tests. From what you listed I don’t see any abnormal tests that point to lupus. Your GP may have done other tests. Ask them about the high platelets. The ANA can become positive years later.

Best of luck

K

[KayHimm]

Lookinb at your post again, I think the best think to do is go over all of your blood tests and other symptoms with your GP. Ask about the high platelets and other abnormal tests. Ask why they think you get fevers.

Has your GP documented swelling and tenderness in your joints? Do they think you should see a rheumatologist?

It seems that a young woman with fever and swollen joints would be referred to a rheumatologist if they can’t find another explanation.

So have a talk.

[Pastel63]

Hello,Your message really moved me, and I deeply sympathize with what you’re going through—there’s nothing worse than being stuck in medical uncertainty. I’m French and share many of your symptoms: joint pain, fatigue, inflammatory flares… It took a long time to get a diagnosis for me too, but eventually, it was identified as mixed connective tissue disease, also known as Sharp’s syndrome. This condition combines symptoms of several autoimmune diseases, including lupus.

I strongly recommend consulting a specialist in internal medicine. In France, they are often the ones who can connect complex and varied symptoms. Perhaps you can find similar experts in South Africa or through private healthcare.

Internal medicine specialists are trained to piece together symptoms like yours and may order more advanced tests, such as specific auto-antibody screenings that are not always detected by standard ANA tests. They might also consider a biopsy of an affected tissue if it could help establish a clearer diagnosis.

You are not alone in this, and I encourage you to stay hopeful, even though it’s challenging. Autoimmune diseases can be incredibly complex, but with persistence, you’ll eventually get answers. Stay strong and take care!

Véronique

[RAD120]

Sending big hugs

[Balahanda]

So sad to hear about all the problems you have going through ♥️❤️.all my love to you . I hope you will be better one day