Rare Disease Day 2019

Today is Rare Disease Day ® and my rare illnesses are Functional Neurological Disorder and Hemiplegic Migraines. 

The aim of Rare Disease Day ® is to raise awareness of rare illnesses and the impact it has on individual's lives and the need for research to help those living with rare conditions and to eventually one day find a cure.

1 in 20 people will live with a rare disease at some point in their live (Rare Disease Day ®) and despite that statistic there is no cure for most rare illnesses and many people also go undiagnosed or it will take them years of difficulty as well as delays to get the right diagnosis often leaving individual's feeling isolated and confused.

The first Rare Disease Day ® took place on the 29th February 2007 a 'rare' date and since then Rare Disease Day ® has taken place on the last day of February - a month which has a 'rare' amount of days.

So, what is a 'rare' illness?

In Europe the definition of a rare disease is that it affects less and 1 in 2,000 people.
There are 6,00 existing rare illnesses.
80% of rare illnesses have an identified genetic origin. Other rarer illness may come as a result of infection, allergies or be environmental. There are also rare cancers, disorders of the immune system and birth defects.
25% of rare diseases have a molecular basis.
50-75% of rare illnesses affect children.
- Rare Disease Day ® 
- Great Ormond Street Hospital

Some well known rare illnesses include Cystic Fibrosis and Muscular Dystrophy.

The term 'medical zebra' is given to those with a rare illness as doctor's are taught "when you hear hoofbeats, think horses not zebra's"; so to look for the most common cause first behind a person's symptoms. But just like zebra's, rare illnesses do exist, and just like a zebra's stripes we are each unique and no two people, even with the same illness will be the same.

Links

• Rare Disease UK
• Rare Disease Day ®
• List of Rare Diseases 

National Love your Pet Day 2019

Today is 'National Love Your Pet Day' (according to the internet). So I thought I'd send you some love from my guinea pig Flop.

Flop loves his food and having a mad run around his cage, especially after you've cleaned him out, he's all very chatty and will run up to the cage door when you go into the room and he loves cuddles and when you go in his cage to feed him will nudge your hand for a stroke. The only thing he doesn't like is his claws being clipped.

We used to look after Flop and his brother Flip (though Flip is no longer with us) when his owners went away. His owners then got a dog who wasn't too keen on Flop so we got asked if we wanted to have him on a permeant basis.
When we first got him if you put him on the floor he'd just stand there; no he'll happily run around and he's getting more adventurous each day.

[Image description: pink heart background with a photo of a black, tan and white guinea pig. The word 'Flop' and decoration stickers dotted around]

UCLH Gastro appointment 8.2.19

So last Friday (8th Feb) I went to a follow up appointment with the gastro team at UCLH. This time I saw a different Dr. She was lovely and easy to talk to; she has EDS herself and we both had Diet Coke and we both agreed its a good cure for nausea and dysautonomia.

Based on my symptoms she diagnosed me with POTS (Postural Orthostatic Tachycardia Syndrome). She explained to me that my gastro symptoms where a mixture of all of my different illnesses - connective tissue problems causing my guts to be stretchier and move much slower; FND not sending messages to my digestive system properly; dysautonomia and POTS and M.E. too as well as the effects some of my medication.

She's going to refer me to pain management to look at options to manage my chronic pain (caused b all my different illness) as it would be impossible to function without medication but to look past help in managing pain and different pain management options and medication.

Having some basic medical knowledge both from when I was studying nursing, but also being a expert by experience (aka being a person living with a disability) she spoke to me in a clinal way and I felt that she treated me at an equal level, unlike some Drs who look down on you because you're the patient and they're the Dr.

She was really happy with what I'm doing with seeing Dr Sally (private Integrative Medicine Dr - I keep meaning to make a post about that!) as one of the things Dr Sally is working on is improving my gut health and intestinal permeability which in turn can help with things like improving my immune system. Anyway, the Dr I saw complemented me on how nice it was to meet such a proactive patient.

In my last appointment I was started on a medication called Prucalopride which helps my digestive system to work more normally; my GP was supposed to do a follow up ECG as it can affect the long QT heart rhythm, but my GP who's as helpful as a chocolate teapot failed to do this so I had a ECG after my appointment. On the way home I got a call from her to sat that I had developed long QT syndrome fro the medication so she's going to switch me onto an alternative which will do a similar job as the Prucalopride but will also allow my pain meds to work but stop them affecting my digestive system. She also said that some of my other medications can affect my long QT but I said I've been on them a while and I've had other ECG since and nothing has been flagged up. As well as my ECG I also has some bloods as my vomiting can affect my potassium and iron levels (though I'm on supplements for that so they should come back normal) and she redid my coeliac blood test and she's going to call me on Monday. She also suggested the idea of having an updated endoscopy.

For now the main things in terms of managing my gastro issue are increasing my salt intake and having smaller meals (which I'm already doing) which can help with the POTS, avoiding trigger foods, keeping up with my Low FODMAP diet. There's also a few other things which she's going to write and requesting my GP to do (and at least I now have my independent advocate to get my GP to do those things). Hopefully doing those things will keep me going and will slow down to possible progression of my symptoms.

During the appointment my cramps and nausea started up - talk about irony!

I've got a 6 month follow-up appointment but she said if things get worse they can bring that appointment forward.

Even though travelling is really difficult I'm thankful to now be under such good specialists (the local gastro Dr I saw was very lacking on knowledge on how to treat me) and I'm also grateful to the patient transport crew that get me to all my appointments and take such good care of me.