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.

International Ataxia Awareness Day.

Psychologically dealing with a diagnosis and the progression of ataxia is hard. Coming to terms with the fact that your legs, arms and other factors like speech and swallowing don’t do what you want is difficult.

At the beginning of the year I did some filming for a patient video and watching it I was horrified to hear how much I slurred my speech when talking.

Whilst I used a stick when my arthritis was bad, mentally accepting that I needed a mobility scooter to get around was difficult and took time to accept but now I don’t know how I ever managed without it.

All my conditions cause fatigue and the tireder I get the worse my balance and co ordination is to the point that I can be constantly dragging my feet and falling over when I’m tired.

My ataxia has also led to hand jerks spilling squash all over the place, swallowing air resulting in coughing and vomiting and falling over whilst kneeling.

Ataxia is rare and the type they think I have is even rarer so it cannot be predicted how my condition will progress which is terrifying but luckily I have amazing friends and family who help me. Even though my niece and nephew don’t understand it they love sitting on my lap on the scooter and going 4mph down the road.

Yes ataxia sucks but those of us affected are extremely lucky to live in a time when there are so many aids to help us in our day to day life. A friend recently sent me the following and it is so true

I saw this and thought it was so incredibly positive. Thought I would share

“I met a person who was in a wheelchair. He told a story about how a person once asked if it was difficult to be confined to a wheelchair. He responded, “I’m not confined to my wheelchair — I am liberated by it. My wheelchair is the reason why I am able to move about freely and go anywhere I want to. Otherwise, I would be bed-bound and It would have been really hard for me to even leave the room or this house.”

It’s Jeans for Genes day

Today is Jeans for Genes day. Will you be doing your part to help children with genetic disorders?

It is estimated that one in 25 children is affected by a genetic disorder. 30,000 babies and children are newly diagnosed in the UK each year.

Some genetic disorders are apparent at birth while others are diagnosed at different stages throughout childhood, and sometimes into adolescence.

Money raised each year helps organisations carry out activities for children with genetic disorders. You can read about how Genetic Disorders UK/Jeans for Genes grant programme here.

The most common genetic disorder everyone has heard of is Down Syndrome, but less common is Fibrodysplasia Ossificans Progressiva (FOP). FOP is one of the rarest and most disabling genetic conditions known to medicine, causing bone to form in muscles and other connective tissues such as tendons and ligaments. Bridges of extra bone develop, in many cases, across the joints, progressively restricting movement and forming a second skeleton that imprisons the body in bone. You can learn more about FOP here.

Another rare condition is Xeroderma Pigmentosum (XP). One of the co-founders of Teddington Trust is the mother to a boy affected by this condition. Teddington Trust provides UV blocking film, hats and protective gloves for those affected as well as support and guidance.

XP is characterised by an extreme sensitivity to ultraviolet radiation (UVR) which affects less than 100 patients in the United Kingdom and equally low numbers around the world.Ultraviolet Radiation (UVR) is present during all daylight hours, found in many types of artificial lighting and even lightning. Unless patients with XP are protected from UVR, their skin and eyes will be severely damaged and this can lead to skin cancer. XP patients are at a 10,000 fold increased risk of developing skin cancer than the general population and often this starts at a very young age.

About 30% of people with XP also develop neurological abnormalities which can range from learning difficulties, hearing loss and eye sight problems to loss of gross motor skills and mobility.

There is no cure for XP, but much can be done to prevent and treat some of the problems it causes.

Protection from all sources of UVR is required, including total daylight avoidance via specialised clothing and sunscreens. A significant commitment to lifestyle changes is also required to mitigate against the risk of exposure and combat its effects. People with XP must also undergo frequent skin, eye and neurological examinations and have prompt removal of cancerous tissue.

Thousands of these genetic disorders affect as few children in the UK as FOP & XP and it is for this reason that it is so important to support this day.

If you haven’t been able to do your part today you can host a Jeans for Genes day anytime to help children with a genetic disorder.

Jeans for Genes is coming

Jeans for Genes occurs each year and raises money for children and awareness of genetic disorders.

Individually genetic disorders are rare but combined they are common.

As several of my conditions are caused by genetic mutations and having seen how genetic disorders affect children growing up this is a cause I support.

Some genetic disorders are so rare there is only a couple of children affected by certain disorders in the UK so it is hard for the organisation’s to get any support.

Jeans for Genes helps organisations host family days, symposiums, learning opportunities for families and carers giving families a chance to meet others that are also affected.

So on the 21st September don your jeans and help children with genetic disorders.