2021 drama

So 2021 has been interesting so far, apologies for not blogging for so long but infections galore have prevented me doing anything.

Due to my ataxia I regularly aspirate and because of my immunodeficiency it often turns into a chest infection. Due to the regularity I’ve been aspirating I’ve had a chest infection for months, every time it seems to get a bit better I aspirate again and a new infection starts.

On top of all that at the beginning of July I found out I was in the 40% of immuno comprised people not making an antibody response to the Covid vaccines.

This was followed by my chest infection getting so bad I was admitted to hospital with a diagnosis of aspiration pneumonia. So IV antibiotics and finally a chest CT showed a weird infection they’d never seen before.

There was also a small matter of a heatwave at that time and my side room was like a sauna. I’d nicked dad’s Dyson fan and even that was struggling in the heat and the average temperature in my room was 26 and really humid.

The other issue I had been admitted with was an incredibly sore throat hurting to swallow etc but the soreness was too far down my throat for a normal look to see the problem. I’d even rung my GP on the Friday before I was admitted to ask for liquid paracetamol and the guy I spoke with ended up providing me TABLETS which I could NOT SWALLOW. An emergency referral to ENT and a camera down my throat saw me diagnosed with Supraglotitis which can be life threatening so a jab of dexamethosone and different IV antibiotics fixed that.

Months of antibiotics has left me with oral thrush as well so a mouth wash and a 2 week course of Fluconazole sorted that.

Finally I was discharged and went to my parents to recuperate and a week later I stopped antibiotics and within days the infection was back.

On top of that I managed to develop a foot infection which has not gone despite 3 weeks of antibiotics so I’m now waiting on a referral incase its osteomyelitis. My GP surgery excelled once again last week when I sent another photo of my infected foot and they replied to say they’d ring me in 2 weeks!! So my awesome Immunology team took charge and kicked my GP surgery up the backside resulting in an appointment yesterday and a referral to Orthopedics.

So July and August have not been great but hopefully everything will improve in September.

Minnie has of course enjoyed me reecuperating and the instructions for my foot to sit on the sofa with it up.

International Ataxia Awareness Day

It feels like a life time ago I was finally told they thought they had a diagnosis for me; Ataxia Pancytopaenia. My amazing Immunologist thought the symptoms sounded exactly like me but the trouble was that nowhere at the time was able to do the test to confirm it. At the time there was only about 25 people in the world with the condition. This was 5 or so years ago.

Finally the gene mutation was identified, a mutation of SAMD9L and a new diagnosis which explained so much. Unfortunately due to the rareness of this type of Ataxia no progression predictions can be made and it really is one day at a time.

To walk a short distance now I need my stick on one side and someone offering me an arm on the other whilst for long distances I need a wheelchair. If I’m going from my house I use my mobility scooter, which the dog runs along side on walks.

The other day I was picking up dog poo in the garden, lost my balance and ended up sitting on the grass. I nearly sat in dog sh!t and if that doesn’t sum up life with ataxia I don’t know what does!!

Today is about raising awareness of this super rare condition. Ataxia affects only 10,000 people in the UK but for those of us with it it rules our life. Due to my various conditions I’ve always suffered from fatigue but it’s nowhere close to the fatigue from ataxia. I can generally be awake 2 hours before I need to sleep for 2 hours and by 7pm I’m in bed as my balance is too bad to stay up so my life has definitely changed since my diagnosis and progression.

So raise awareness, support anyone affected and try to understand what they are going through even if you can’t.

Don’t Rush

This is something I’ve learnt over the last few years. Trying to rush when you have ataxia does not work, it will lead to further loss of balance, tripping up and falling over. Once when the lovely dog walker came the dog rushed back to the sofa so I went to rush and get her. This resulted in me tripping, hitting a cupboard and falling to the floor where I just sat in shock.

So physically I can’t rush, I have to move slowly, take my time and think about what I’m doing.

Last Friday the dog threw up on my lap and in the sofa. In the old days I would have freaked out and rushed to clean it up but nowadays I think about how to handle things so I just sat with vomit on my lap with the following thought process and action

Eww the dog just threw up on me
Ok it’s on my jeans and the sofa blanket
I need to get off the sofa without touching the vomit or spreading it as well as getting the dog off without her trying to eat it.
Get the dog outside whilst stripping the blanket off the sofa and putting it in the garden as my balance was not good enough to deal with it that evening
Get the dog inside, remove my slippers.
Get upstairs and into pyjamas taking care not to get vomit on anything else.
Put jeans in washing machine to get clean.
Put a new blanket on the sofa.

These thoughts and actions may only take the average person a couple of minutes but it took me 15; doing everything slowly and carefully and not rushing.

If I go down the stairs slowly and am not hurrying it really p****s me off when the person I am with tells me not to rush. I can’t rush. If I try to chances are I will fall and injure myself.

So I take my time, do things at my speed and DO NOT RUSH!!

Things it could be…

MS, Lupus, Parkinsons, Motor Neurone disease.

6 years ago today a Neurologist came into my room to tell me the head MRI that had been ordered by an Endocrinologist who had noticed I had Nystagmas was abnormal. She gave me a list of conditions it could be but said she didn’t really know and that they’d send me for a second MRI with contrast to check all the vessels etc and that she’d be back the following day to discuss it with me.

I never saw her again and it was my Immunologist who finally diagnosed my ataxia and the genetic abnormality causing it.

Growing up I could never hop on one leg, ride a bike or catch a ball. My ex pointed out when walking up curbs I always lifted my foot double the height of the curb to make sure I didn’t trip up it. When I was 21 I could feel my balance worsening and joked with my flatmate at the time that it was because I was going out clubbing and dancing less than I use to.

As I got older I attempted dance classes with ballroom, latin american and specifically Salsa and found them to be more and more difficult so the ataxia does make sense looking back.

I refused to see Basingstoke neurology again and instead saw a wonderful Neurologist in Oxford who eventually referred me to my current Professor after my amazing Immunologist read a paper on Ataxia-Pancytopaenia and thought it fitted me completely.

So after exome sequencing, the mutation SAM9D-L was found. Unfortunately it’s so rare it can’t be predicted how I will progress but losing my balance sideways is totally boring and irritating.

I see my professor once a year although I can get in touch with him as needed. I’ve joined a load of Ataxia groups on facebook and groups regarding wheelchair holidays and accessibility.

So six years ago my ataxia journey started properly and having a name for the stumbling, losing balance, choking, speech slurring and inability to walk makes it easier to handle but walking normally would be even better as my body had made too good a friends with the floor and walls.

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.

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.

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.

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.”

Happy Birthday NHS

(Apologies in the delay since my last post, fatigue has made me sleep a lot)

Today I’ve seen many posts about how much the NHS has helped people and how some people wouldn’t be here without it and I’m definitely one of them.

During my 30 years the NHS has been my rock, growing up I called it my second home. For the first few months of my life our local doctor didn’t believe there was anything wrong with me (an issue with rare patients) but my parents knew they were wrong and pushed for a diagnosis. From diagnosis day I had an amazing Immunology team looking after me and trying to keep me well with infusions of what we call “liquid gold”

Development of Crohns Disease aged 7/8 led me to having a second NHS team. This time in Gastroenterology. Countless procedures to monitor my Crohns and an array of different medications didn’t work and I had my first surgery when I was 12 as an emergency and was in hospital recovering for a long time. During my hours lying in my bed in a side room I made good friends with all the doctors and nurses with many of the nurses coming and keeping me company when they weren’t needed during the night and I was awake. One in particular was named Cordelia and loved jokes so a present to me of a joke book from one of my friends went down really well with her.

My second operation when I was 14 was the same although I wasn’t in for as long due to me being healthy when admitted for my planned op.

These teams supported me through many years, moving schools and eventually to uni. My Immunology team taught me how to infuse subcutaneously so I could do it myself in university halls and student homes and I carried on.

Age 21 I had a weird side effect to ‘Humira’ and Gastroenterology referred me to Dermatology who quickly diagnosed Psoriasis which had become infected. A mixture of creams and potent tables soon settled down and was manageable.

A few years later I woke up on a Wednesday morning and my knee had swollen and I could barely stand on it . A trip to minor injuries led to a trip to A&E when they stuck a needle in my knee and sucked out excess fluid. There was so much they had to undo the syringe which was full and attach a new one whilst leaving the needle poking out of my knee. After some testing of the fluids, blood tests, x-rays Rheumatology diagnosed me with arthritis. After a year or so I was on some amazing meds and now just get a flare up of it from time to time and a bit of aching but am generally fine.

Then finally about 4 years back I was admitted to hospital because of my Crohns and developed postural hypotension so was in for quite a while. An Endocrinologist was sen to look at me and noticed I had bad nystagmus which explains why I had said my vision was “shimmery” for a few years. A head MRI discovered cerebellar atrophy and white matter on the brain. I was referred to a Neurologist and now see a Neurologist with great knowledge on ataxia.

Meanwhile my Immunology team are doing genetic testing on me to confirm which type of ataxia I have although they’re 99% sure it’s Ataxia Pancytopaenia. They’re working with a Clinical Geneticist to look at my highly interesting DNA.

The NHS also provided me with hydrotherapy to help my joints (hated it) a physiotherapist when I was diagnosed with arthritis, a physiotherapist who came to my house when I developed ataxia properly and now every six weeks I speak to an NHS Clinical Psychologist who helps me overcome the emotional impact of being unable to walk properly.

I am also now under Endocrinology for a new issue.

Through out all this, from the age of 18 I have had amazing GPs and I absolutely adore the one I have now. She liaises with all my specialists, listens to me and accepts that I know what I’m talking about helping me where needed.

So for me the NHS has quite literally been a life saver and continues to be so.

Happy Birthday NHS! NHS_70_logo

Neurogenetics

Today I had an appointment with Dr Tofaris at the Neurogenetics clinic at the John Radcliffe hospital.

Honestly I was apprehensive. There is no cure for ataxia so the main thing is altering your lifestyle and if needed treating the symptoms which works to a point.

My other concern was that the type of ataxia they believe I have is so rare they cannot predict how it will develop.

My immunology team are currently looking at my DNA, genes and mutations to see whether they can give me some more answers and have so far identified two variants in the gene called SAM9L Patients with mutations in this gene have been reported to have ataxia pancytopaenia syndrome.

It ended up being a brilliant and really useful appointment, I will see Dr. Tofaris once a year unless I request to see him more often. The thing with ataxia is there is no cure so only managing of the condition and treating some of the symptoms.

I did lots of tests and even discussed things that may or may not be attributed to the ataxia such as my toes.

What has been confirmed is that the ataxia was the reason i could never hop, ride a bike or play games involving catching or hitting a ball.

I also saw Prof Nemeth who is a clinical geneticist with a special interest in ataxia. She has suggested getting all my consultants together to discuss me as I am such a rare case.

We talked about how my symptoms are developing, what I have in place to help me and future plans.

So whilst it might not seem to you much was achieved for me it was a really good appointment and reassures me the doctors are on track to keep getting me the best care possible.