It’s been a month

A month ago today was my last day employed. The fatigue got to much for me to manage to work even a little bit so I had to stop.

Those closest to me have been so supportive of my decision knowing how much I have struggled the last few months and how stopping work goes against all my beliefs and independence issues.

Others have tried to be supportive but missed the mark a bit with their comments.

So here’s something to remember. If those of us with chronic illness have to give up work it is not something we are choosing but is something we have to do to look after ourselves. We do not enjoy not having something to occupy our brains or distract us from how we are feeling.

IT IS A NECESSITY NOT A CHOICE

I was lucky to work for an organisation that let me work the hours I did but many part time jobs still require 20 or so hours a week which for a lot of people with chronic illness is too many. So before you judge us for not working or say how lucky we are, think about our entire situation.

Last day

Today marks the last day of world primary immunodeficiency week an official week to raise awareness of primary immunodeficiency but in reality those of us affected should never stop raising awareness amongst family, friends, healthcare workers and the public.

I have learnt quite a lot this week in that the anger some patients feel at having this condition outweighs the fact that we can receive treatments for many of the conditions and the benefits this treatment gives us.

I will always be thankful because i know without this treatment and the NHS I would probably not be here today.

Yes to be diagnosed with a rare condition (or 3) sucks but we are so lucky to live in the UK where we receive treatment for it and have access to specialists in the condition we have. Many countries have limited if any access to treatment and do not have Immunologists patients can see and therefore have to travel abroad just for an appointment.

When it comes to treatment and receiving infusions we are lucky to have the option to infuse at home. Until I was 7 or 8 my mum and I had to travel to Oxford every 3 weeks for my infusion meaning i had to take time out of school and mum work. Now I infuse at home once a week when suits me in a time window.

So what I’m trying to say is that yes it can be s**t but we are lucky to live where we live in the time we live.

Day 4

Today is the 4th day of World PI Week and it has been a little stressful.

Although I gave up work at the end of March I always said I would do the facebook for PID UK and unfortunately some patients took against one of the pictures provided by World PI Week.

The picture was of a patients personal quote about how much their life had improved on Immunoglobulin Therapy. Whilst I do not refute that many patients lives are not perfect health wise once they have started treatment I do not accept that no ones life is even slightly better on Ig replacement therapy once they have been diagnosed.

For a recap I have

Primary Immunodeficiency
Crohns Disease
Psoriasis
Arthritis
An exceedingly rare form of ataxia
Myelodysplasia Syndrome

and yet even with these conditions I feel lucky 90% of the time.

If I had been diagnosed with several of these disorders even 80 years ago I would probably be dead.

I could of caught several severe infections that could of killed me or bled to death from my Crohns.

Luckily I have an incredible team of doctors around me wonderful family headed up by my mum, dad and sister and amazing friends.

In my 31 years I have been taken off my infusions several times to see if my immunedeficiency had sorted itself out. Each of those times I was so ill and ended up in hospital and would have died had I not restarted treatment.

So no Ig treatment may not turn your life around if you are a PID patient but it definitely makes it better than if you weren’t to have it.

Day Two

Today marks the end of day two of world pi week so I thought I’d give you some facts and answer some questions.

There are nearly 400 primary immundeficiencies (PIDs).

They are genetic disorders and are NOT contagious (you cannot catch a PID from a patient whether you hug, kiss or sleep with them)

My particular PID has changed names over the years as science and medicine has evolved, when I was young it was just Hypogammaglobulanaemia, then it was Common Variable Immunodeficiency and then Primary Immune Dysregulatory Disorder and now since my Ataxia Pancytopaenia gene mutation was discovered the doctors don’t seem to know exactly what to call it.

I was lucky to be diagnosed as a baby to avoid some of the non diagnosed illnesses that late-diagnosed patients are affected by.

As the image above shows misdiagnosis and un-diagnosis are still massive issues and un-diagnosis can lead to serious health problems affecting a patients entire life.

PID patients are not currently covered by Medical Exemption so we pay for each of our prescriptions, although most PID patients have a pre-payment card to stop our prescription costs spiralling.

I do my infusions into my stomach (subcutaneously) whilst others do theirs into a vein (intravenously). I did infuse into a vein until I went to University and wanted the freedom to infuse at a time suited to me. During 13 years of infusing subcutaneously I have only had one reaction that caused concern and although it means if I go on a holiday for more than 13 days I have to take my infusion gear with me I do find it a lot easier.

So 8 bottles, 4 syringes, 2 needles keep me healthy(ish) each week and long may it continue!!

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.