Today it Begins

World PI Week 2019 began today. This awareness week may not mean much to so many of you but to those of us with primary immunodeficiencies it is an important week of the year; a chance to raise awareness of a condition we live with everyday.

As it happens today was the day I had to do my infusion. This occurs once a week and is an infusion of other people’s antibodies to keep me healthy. For me and so many others this product is our “liquid gold” keeping us well and healthy.

Each week I infuse 80ml/12grams via two needles over 1 hour.

My product is Subgam and I infuse subcutaneously into my stomach

Some patients choose to infuse every few weeks into a vein more often in a hospital.

I hope that explains my weekly treatment and please do spread the word about primary immunodefiencies both this important week and the rest of time.

Happy Easter

I hope you’re all having a lovely relaxing time.

Having had my niece and nephew for an egg hunt yesterday today I am relaxing.

Everyone expects Easter weekend to be fully packed but those of us with chronic diseases need to prioritise self care and resting so taking it easy is the main thing.

Having given up work at the end of March I sleep most days so a four day weekend isn’t really any different but the temptation to overdo it is present and something I have to resist. If I had a busy weekend I know I would suffer for it.

I’m celebrating today in my own relaxed way with my dog who is running in and out from living room to garden and back again.

So my main message today is to let people celebrate in their own way.

Tomorrow marks the 1st day of world primary immunodeficiency week 2019!!

People can be exhausting

So this is something “healthy” people don’t always understand. Being sociable and surrounded by people can be exhausting.

I live on my own with my dog. I spend 75% of my time sleeping and resting. More than handful of people currently tires me out so I’ve had to start saying no to things.

For me it’s not just a matter of being tired but that when I’m tired my ataxia gets a lot worse to the point I can barely walk or talk, eat or drink without choking.

This will resound for many people with rare and chronic illness, generally we are not good with crowds, we get tired easily and cannot be as outgoing as we would like. We are not being antisocial, we would love to join in lots of activities but can’t.

I know each weekend I can only do one thing and if it’s an evening event I need to nap before it to get through it. It sucks but I’ve learnt pushing myself through several things is not worth it.

If several things are happening over several days that I really don’t want to miss I’ll make sure that the following few days are empty so my body can recover as I sleep.

I guess this comes back to the “spoon theory” and not having enough energy for everything. Personally I don’t like the spoon theory as I find it too simplistic as you never know how much energy you are going to have to begin with or how much energy an activity will use up but in getting people to realise that you don’t have limitless energy it’s a good idea.

So if we pass up on a fun day out, or any chance to be social don’t take it personally we’re just saving ourselves.

Being Rare for Rare Disease Day

Thursday 28th February is Rare Disease Day so in celebration I thought I’d tell you all about my recent diagnosis of a 3rd rare disease.

On Thursday 14th February I was diagnosed with Myelodusplasia Syndrome. A wonderful Valentine’s present.

In all honesty 2019 had been pretty rubbish up to this point with my platelets dropping horribly low and not being to fly to South Africa, being admitted to hospital and having to go for a bone marrow biopsy (not nice to have, I wouldn’t advise it)

The bright side of this diagnosis is that I’m currently low risk so will just be monitored at the moment with regular blood tests.

If you want to learn more about MDS there are two organisations that offer brilliant information; MDS Support Organisation and MDS Foundation.

Rare Disease Day is an important day day for us rare patients to bring a spotlight to rare diseases.

This year Rare Disease UK have created a campaign “illuminating rare diseases” a great chance for patients to share their stories and rare diseases.

EURODIS the voice of rare disease patients is also marking Rare Disease Day encouraging social media participation among patients.

With 3 days to go please support Rare Disease Day and the patients who cope every day with issues you can never fully understand.

Hickam’s Dictum

Hickam’s dictum is a counterargument to the use of Occam’s razor in the medical profession. While Occam’s razor suggests that the simplest explanation is the most likely, implying in medicine that diagnostician should assume a single cause for multiple symptoms, one form of Hickam’s dictum states: “A man can have as many diseases as he damn well pleases”

This definitely applies to me as I go for more testing but it also applies to so many rare patients.

The rare community of patients often refer to themselves as ‘zebras’. This is because when doctors are learning they are told to look for the most obvious reason “when you hear hoofbeats think horses” but rare patients aren’t horses; we require more thought, testing and thinking outside the box which is why it can take so long to diagnose a rare disease patient. It may be frustrating for the doctor but it’s even more frustrating for the patient.

An organisation has been created producing a quarterly magazine discussing rare conditions. Rare Revolution Magazine brings together all the rare conditions allowing patients to talk and support each other. Whilst each rare disease does not affect many people, collectively rare diseases affect 1 in 17 so having several “rare” people in your life is actually quite common.

So always think of us “Zebras” and bear in mind the most obvious answer is not always correct.

99.9%

Back in November I had a hospital appointment where it was confirmed the John Radcliffe had tested my genes and twice they had confirmed mutations to the SAMD9L gene.

These results basically confirm what we thought which is that I do have Ataxia-Pancytopaenia syndrome.

The problem is that it’s so rare the doctors can’t predict how it will progress so it’s a day by day, week by week discovery of wait and see. So far all reported cases have been in families confirming the autosomnal dominant inheritance pattern, I however like to be unique and my mutation is a de-novo mutation so neither of my parents have the mutation.

My genes have also gone to Bristol to be tested hence the 99.9% sureness, it won’t be 100% until they come back with the same answer.

So we shall wait and see what happens and hope the Bristol results are back before I see the ataxia specialist in May.

Be Prepared

A few years I completed some important documents.

These were my will, my living will power of attorney documents for both health and finance.

It was important to me to do these documents so I get a say in whether my life is extended in certain situations.

My incredible sister is the executor of these documents and a living will means my end of life decisions are already made so she doesn’t have to make hard decisions.

The living will is the most important of these documents and lays out my wishes in certain situations. My independence means the world to me so for me it is important so being unable to care for myself in any situation is not one I want to be in and so I have laid this out in the document. I have also stated that I do not want any medical intervention if they will only extend my life and not lead to full recovery.

A copy of this is with each of my hospitals and my GP who when I gave it to her said she wished more people did them to reduce the hard decisions when they’re older.

I’ve appointed my sister and oldest friend to ensure my views are respected as I trust them not to fight against my decisions and do as I wish.

These 2 amazing people are listed as attorneys for my financial and heath matters in my power of attorneys and also as executors or my will which lays out who I wish to gift my estate etc to.

As my three favourite people Olivia, Zac and Becca are the main recipients with small gifts to other people.

It’s not nice to think about these things but in my eyes it’s necessary and something I would ask you all to consider, even if it’s just doing a will. A living will means your family doesn’t have to make difficult decisions.

So now I can focus on being a good daughter, great sister and awesome aunt knowing the important things are taken care of.

I may have Ataxia but it doesn’t have me

When I was diagnosed with Ataxia 4/5 years ago I didn’t quite know how to handle it and losing my independence was my greatest fear but with my incredible friends and family I’m still able to do most things.

I still have days when it all seems impossible such as when I lose my balance, fall over and bruise my butt (it’s happened a few times)

I had one thing that I still wanted to do and as we can’t predict the progression of my Ataxia I thought it might be best to do it sooner rather than later while I can still do stairs. That thing was to go to a gig performed by my favourite band who I’ve already seen 7ish times (now 8). However the venues they perform in aren’t always the most accessible so when I bought tickets several month ago I realised it needed serious planning.

First thing: email the venue to let them know and ask about wheelchair accessibility. Patterns in Brighton were incredibly helpful listing the number of steps and where they were and letting me sit at the front in my chair which they carried down for me. (Being in a wheelchair gets you a prime position as well :-))

Second thing: Invite a friend who loves the band and doesn’t mind being my carer. Enter the awesome Siobhan Eyley with whom I have an absolute blast whatever we do.

We napped, shopped, went up the i360 , ate lots (but no donuts :-(), got drunk and watched the best band ever.

Third thing: book a hotel room. Turns out cheap hotels don’t have lifts or accessible bathrooms so we found a room with a very small bed for us to share

The bed came in useful especially after getting home at 2.30am Sunday morning so needing a nap Sunday afternoon.

Then it was booking fun stuff.

Thank you to everyone for making the weekend such a blast, especially Siobhan and I am so glad I woke up with no hangover on Sunday.

Oh and we got a sword.

Can I Pray For You?

So I’m at the conference in Lisbon and one of the aims is to network so I started chatting to this guy. Just my luck it turns out he had nothing to do with Immunology but was a computer programmer there to make sure all the computers worked properly.

Anyway we were chatting away and I was telling him about my immunodeficieny and he interrupts and says “can I pray for you?” I wish I’d said no but in the shock of it I said “yes”, he followed it up with “can I touch your shoulder whilst I pray?” Major shock still playing a role I said yes again so he put his hand on my shoulder, shut his eyes and started praying out loud for me. Mum was gone getting coffee at this point and couldn’t return soon enough.

I have no problem if people want to pray and turn to religion for help with illness etc and at least he asked me but I so wish I’d said “NO”

After the prayer I told him I wasn’t religious and believed more in science and genetics. He told me I should give God another chance to which I replied “if God can fix my genes and DNA then brilliant”

If prayer gets you through things then brilliant but the next time someone asks me if they can pray for me I will be saying NO.

Lisbon done My Way

Last Tuesday I flew to Lisbon with my mum as my carer for a work conference for 3 days and 4 days to relax after.

Lisbon airport is part of an amazing service called MyWay. https://www.flytap.com/en-gb/special-needs/my-way

This amazing service meant that when we arrived on the tarmac and all other passengers disembarked down steps and onto buses an enclosed cabin lift took me from the aircraft door and down to a waiting mini bus. I was then pushed all the way through the airport where were got our luggage and a MyWay person continued to get us all the way to a taxi. This service meant from the moment we landed to getting in a taxi we were escorted. This took a massive weight off our minds and with the same thing going home it meant the journeys were easy.

Travelling around Lisbon though was not. There are many blogs about wheelchair travel and how difficult it is but we still gave it a go.

The hotel that we stayed at was found by the conference organisers with a reduced mobility bathroom which had a shower seat and rails which was brilliant. The Pestana CR7 was brilliant with great food and the staff were so helpful getting me into taxis each day.

The conference was brilliant, meeting people I’ve been emailing for years and hearing some really interesting talks.

Our 4 days relaxing involved an unsuccessful visit to the castle (uneven cobbles on a hill) a trip to a panoramic view 18 floors up (amazingly windy), Lisbon zoo, (lots of animals but they needed more enrichment), Jeronimos monestry (from the outside) and Belem and some shopping.

If you’re going to Lisbon in a wheelchair I would advise booking some wheelchair friendly tours so that each day you see what you want to see with the assistance you need.

Also the wind can be incredible so wrap up warm with a scarf especially.

Staying near Praco de Comercio means it’ll be flat where your hotel is (important so you don’t roll away when leaving the hotel)

So in summary I would say travelling round Lisbon in a wheelchair is difficult but if you plan ahead then possible.