World PI Week

22nd-29th April is World Primary Immunodeficiency Week raising awareness amongst the general public of primary immunodeficiencies.

Primary immunodeficiencies are disorders in which part of the body’s immune system is missing or does not function properly. When a defect in the immune system is inherited (carried through the genes), it is called primary, or inherited, immune deficiency. There are over 200 forms of Primary Immunodeficiency (PI), ranging widely in severity. PI often presents itself in the form of “ordinary” infections.

Physicians sometimes treat the infections while missing the underlying cause, allowing the illnesses to recur, and leaving the patient vulnerable to vital organ damage, physical disability, and even death.

I was lucky in that mum knew something was wrong with me and pushed for me to see a specialist which led to my diagnosis.

The Objectives of World PI Week are:

To drive recognition of primary immunodeficiencies (PI) as an increasingly important group of diseases
To increase recognition of PI amongst the medical profession as well as parents, school teachers, day care centre employees, researchers and nurses to increase the understanding of these diseases and promote early diagnosis
To encourage health authorities to use existing awareness materials produced by JMF, IPOPI, PID UK and other stakeholders to promote the timely diagnosis and treatment of people living with PI
To promote the model of combining physician education and global awareness with the infrastructure to diagnose and treat PI worldwide
To stimulate efforts to improve the recognition, diagnosis, treatment and quality of life of people with PI world-wide

Living with a PID

Yesterday I gave a speech to a home delivery company so they could understand more about what living with a PID is like.

It was a brilliant day and as I am all for raising raising awareness of what it is like to live with an immunodeficiency I was happy to do it.

Whilst I varied my speech as it went below is the basis of what I said. I didn’t want it to be too long as I felt it was better for the attendees to ask me questions at the end so they learnt what was important to them

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Living with a PID

From my birth I was always ill to the point where social services were called but eventually I was diagnosed with Hypogammaglobulanaemia as a baby. I was the only child at the clinic until I was 6 or so. At the time there was no paediatric centre at my hospital so I had my infusion surrounded by older women and men in their 80s although looking back now they probably weren’t that old. The fellow patients would help mum keep me amused during my infusion with challenges like “eat a packet of crisps without making a sound.

I received intraveous infusions of immunoglobulin at the John Radcliffe until I was 7 or 8 when mum learnt to do them a home. The John Radcliffe was one of the first hospitals to offer the chance to infuse at home which meant mum and I didn’t have to travel to Oxford every few weeks. Aged 18 I then learnt to do subcutaneous so I could do it easily myself at home and then at university.

I’ve been with Calea for over 20 years on and off having my immunoglobulin and ancillaries delivered to home. I currently infuse 80ml of subgam each week into my stomach, although with the change to cuvitru this will reduce to 60ml.

I know a lot of people continue with the normal activities when they infuse but for me it’s a proper excuse to sit and relax at home on the sofa. However when I was younger I didn’t let infusions stop me from enjoying life, in fact there is a photo of me lying on a lilo in a gorgeous blue pool with my infusion dripping in to me whilst I floated.

The nurses who look after me would hate to know that I regularly infuse with my little dog lying asleep on the sofa next to me. For hygiene reasons pets are meant to be in a separate room whilst you infuse but mine hates to be apart from me so doing that would mean an hour of listening to her crying which would probably make me more ill from stress.

Understandably a new diagnosis of a primary immunodeficiency can be daunting but I work part time for Primary Immunodeficiency UK answering enquiries and helping newly diagnosed patients with questions they may have and hopefully easing some of their worries.

I think it is especially worrying for parents of newly diagnosed children but I hope through PID UK and mine and Susan’s work, the facebook groups UK PID Patients and UK PID Carers which I set up these parents can see how others are thriving since their diagnosis and with appropriate treatment and this hopefully allays their fears a bit.

Pain relief

I know there are several things patients can now use to help make their infusion easier and it less painful when putting in the needles but for me it will always be about EMLA cream, a topical anaesthetic cream I used until I was about 22 on my stomach when I started infusing subcutaneously and again aged 27 when I started trying to infuse into my thighs which I finally realised wasn’t ever going to be successful.

When I infused intravenously from when I was diagnosed, I used EMLA until I was about 14. I now go through phases of having to watch a cannula go in if I’m ever at the hospital and purposefully not watching. If the person inserting the cannula hasn’t listened to me about where to stick the needle I am going to watch as I know they will mess up. I know my body and my veins so if you stick a needle somewhere new then chances are it won’t work. I ABSOLUTELY CANNOT watch other people have needles stuck into them and although I am an avid fan of hospital programmes I will use the dog as a shield if anyone requires an injection or anything like it.

The other product I have heard a lot about aside from topical anaesthetic creams is Buzzy. Buzzy is a reusable device that confuses your body’s own nerves and distracting attention away from the needle pain, dulling or eliminating it. I think this is a brilliant idea for adults and children alike, especially those who dislike needles. A lot of parents of PID children use Buzzy each week to start their infusions without it being a problem and I definitely wish it had been around when I was younger as I think it would have saved the bucketloads of tears I used to cry.

As with most thing the thought it always worse than the actual process.

How I’m Affected

When you tell people that you have a PID the first thing they wonder is whether it’s related to HIV so you have to explain that it is caused by changes to your genes and is not contagious.

The next biggest issue is people not realising how even with infusions it is important for patients to not be near or even in the same room as those with contagious illnesses and that even colds can have a major effect. I have a friend who has CVID as the end of January has had rhinovirus for three months. So she had a cold for three months and the antiviral drugs made her feel horrendous on top of this.

In January I developed a cold and having seen my Immunologist a week ago she told me I shouldn’t have left it to just go away after 4 weeks but been on antibiotics rather than risk it.

If someone has a virus or has had one I will ask them to stay away from me so I don’t catch it and I will be unapologetic about it when I do.

A lot of people also don’t realise that being immune deficient can open you up to a lot of other illnesses which can cause you major issues more than just getting ill. My biggest issue (aside from not being able to walk properly) is fatigue and I know this is something that affects a lot of patients with lifelong chronic illnesses. I generally need to sleep about 11 or 12 hours a night (which is why I stayed here last night) and if I don’t I can often not get through the day without a sleep.

I have to plan my days and if I know I am going to have a busy day one day then the next one needs to be empty so I can sleep if and when I need to.

Luckily I have some amazing friends who will happily adjust their plans if I’m tired and it definitely proves that the most important thing for me coping with a PID is to have brilliant friends and family.

Whilst I could go on and talk further about being a PID patient I think the best thing for everyone would be if I attempt to answer your questions so you learn about what you want to know about so please ask away.”

Huge thank you to Calea for inviting me.

If you have any questions from reading this please do drop me a line and ask me, I would rather people ask me questions than make their own, often wrong assumptions. I hope the above gives you a bit of an idea of my life.

Visible versus Invisble

I lived most of my live with invisible disability but with the appearance of arthritis and ataxia I now live with visible disability. So which is better?

The issue with invisible disability is exactly as the name suggests: you can’t see it. Many people then don’t accept that you have anything wrong with you because they can’t see it. I always looked young and pale but you couldn’t ever see the immense fatigue I felt day to day, the lack of strength that made standing for any period of time so difficult and that pushing myself would not only tire me out that day but also wipe me out for several days after it.

I would regularly get dirty looks from other people when I took seats on buses and trains and then someone would get on with a visible disability and I wouldn’t leap to my feet to give up my seat.

I once got on the train at Clapham Junction for the short journey to London Victoria and asked for a gentleman to step aside to let me sit down in one of the empty seats in the carriage (there was about 8 of them, an entire section). He let out a massive sigh and eventually stood to one side making a massive deal of it and let me sit down. He then proceeded to ask another girl who was standing if she would also like to sit down in the (near empty carriage). Her response was “no it’s not far”.They then proceeded to talk loudly about lazy people who wanted to sit down for short journeys and how they should just stand. Luckily as my arthritis was flaring up I had a foldup walking stick in my bag so got it out and as the train pulled in to our stop I made a massive effort of standing up with difficulty and started moving forward. The man and the woman did at least have the decency to look sheepish when they saw me walking with a stick, but the question is should I have had to get it out?

I get it, it’s difficult to know if someone has mobility issues due to an illness or disability of whether they are just lazy. The same as whether you don’t know if someone is overweight due to a medical problem or just because they eat far too much and don’t exercise enough. In the UK it’s estimated that 1 in 4 adults are affected by obesity and 1 in 5 children aged 10 to 11. For me obesity with no reason fits in with the topic of smoking which is a post for another day.

So I spent 24/25 years of my live with invisible disability and then the arthritis started leading me to carry a fold up walking stick in my bag for bad moments (although I still had some ‘interesting’ encounters which are again stories for another day).

Nowadays due to the Ataxia I cannot leave the house without a walking stick for short journeys and a scooter or wheelchair for longer journeys and I can definitely conclude this:

YOU ARE TREATED BETTER IF OTHERS CAN SEE YOUR DISABILITY

If you are in a wheelchair or use a stick everyone is generally a lot more understanding as they can see that you have problems with mobility and are also more open to the possibility that your disability affects more than just your legs not working properly.

I’ve only lived with ataxia for a few years so I guess time will tell but the truth is visibility is easier to live with as other people can see when you’re really struggling. The more tired I get, the worse my balance and coordination is making it even more visible than before to other people and day to day life is just easier. People will get out of your way and try to help if they can.