Diagnostic process- Hanna's story

Despite the fact that medicine has been rapidly developing for the last decades there’s still a lot that’s unknown or unattainable. Many new conditions and new treatments are being discovered yet for many it’s still not enough. People with chronic/rare illnesses very often struggle to get a diagnosis or even to be taken seriously by medical professionals. I’ve been greatly struggling with my health for 4 years now and only a few weeks ago I got an almost-certain diagnosis of what my condition may be. ALMOST CERTAIN. 

   As a 11-year old girl I got admitted to the local pediatric hospital in my town because after a month and a half of feeling very sick and being told that it’s just a flu, I couldn't hold anything in my hands because of hand tremors. In this local hospital they did some basic blood work and MRI. Everything came back within normal range. They didn’t really know what to do with me so the head of the pediatric department sent me to a hospital in Kraków (83 km from my hometown) to the neurology unit where I had some tests, which didn’t find anything that would explain what was going on so... I was told to STOP PRETENDING! If not, they were going to keep me there for many weeks and perform the lumbar puncture. When my mum confronted them about it, they admitted that they said so to SCARE ME OFF because they thought I was faking everything. Eventually they did perform lumbar puncture and yet again everything came back within normal range. I was sent home and referred to a psychiatrist even though a psychologist consulted me in that hospital and clearly said after a few chats with me that she didn’t think that what was happening to me was connected to my mental health. They didn’t care about that. They didn’t know what was going on and they didn't want to admit that so they decided to do the easiest thing they could: send me to the psychiatrist. 

  And that’s when all the real problems began. I’ve been sent from pillar to post…All abnormal medical results were called „false positive”.. Whenever I saw another doctor they would look at my medical records, read what doctors in Kraków said and kept copying the same conclusions. It’s like I had this huge sign on my forehead saying “Don’t be trying to help her, it’s because she’s crazy” at least that’s what it felt like. The thing is, why would I want to be sick? Why would I want to miss out on normal teenage life? Why would I want all of the suffering, hours spent in doctor’s offices and weeks spent in hospitals? That’s something I just can’t wrap my head around. 

Some doctors did believe me and they really tried to help me but my medical results were so bizarre that they just couldn’t put it all together. 

I know that many people suffering from a variety of chronic/ rare illnesses have been through the same thing. Usually every appointment ends with either:

1. being told that you’re a hypochondriac, that you’re faking it, you’re exaggerating, that’s all in your head or you're too young to be sick

2. being told by doctors that one’s case is complicated and nothing seems to fit, that they’ve never seen something like this before, that what’s going on is impossible because they’ve never seen something like this before or that they are sorry but they don’t know how to help 

3. If you’re lucky, after many months or years a doctor finally has an idea what might be the cause of all your symptoms and propose you a treatment trial

 

  Since October 2018 I’ve been bedridden, unable to sit or walk, each time I try to sit or at least raise my head up I lose consciousness (seem to be „sleeping”, but not reacting). 

It’s probably caused by a large increase in heart beat rate. The condition is called Postural Orthostatic Tachycardia Syndrome (POTS) and is one of the symptoms of dysautonomia. Functioning of my heart, bladder, intestines, muscles and joints is affected, I suffer from chronic pain and recurrent infections. Due to joint hypermobility I’m more prone to joint and back pain and dislocations.

I also have a rare PHIP gene mutation (to date only 100 patients diagnosed but no one with exactly the same variant!) that explains a lot of my medical issues, although it is not possible to determine if every symptom is related to the PHIP pathogenic gene mutation. The treatment for PHIP is symptomatic, there's no one-size-fits-all cure for it.

Everything that’s happening to me and all the weird lab results are like a puzzle. I have two pieces but those two conditions don’t really explain everything that’s going on with me. Doctors say there must be something else but for now that’s all they were able to find out so there’s still a long way to go until we’ll be able to solve this puzzle but knowing this piece of a puzzle gives me comfort and hope that after all these years I finally won’t have to keep wondering and waiting for answers. My patience has been put to test but I'm a stubborn person and in this case my persistence was a great asset. One thing that also played a crucial part in all of this is support and unconditional faith from my parents and people close to me. They never gave up on me and they fought alongside me. I’ll be forever grateful for that. I’d like you all to know that showing your support and understanding for people who are going through an illness or diagnostic process is really important and I can't stress this enough. Empathy, that’s all we need to keep going.