Although individual rare diseases may not affect many individuals in each country, there are 3.5 million people in the UK alone who have a rare condition. This week sees International Rare Disease Day which aims to raise awareness of rare diseases and to help improve diagnosis, care and communication for sufferers.
To mark the day, we spoke to Jill Prawer who has a condition called LPLD, and we began by asking her what LPLD is.
Lipoprotein Lipase Deficiency is a very rare condition that affects about one per million of the population. People who have it are unable to produce enough, or any, lipoprotein lipase, the enzyme which breaks down the fats that enter the bloodstream after a meal. To stay well, people with this condition need to eat very little fat. The amount of fat a person with LPLD can tolerate varies from individual to individual, but ranges from 5g to 20g a day. A healthy daily fat intake for the average person in the UK is considered to be around 70g for women and 95g for men.
LPLD affects each person differently, and some people are more badly affected than others. When I eat too much fat I get painful stomach aches, yellow spots (xanthomata) and pancreatitis. I also have trouble concentrating and have poor memory. To keep well I eat between 5g and 10g of fat per day
How did you discover you had it?
My mum reports that I had stomach aches from birth, and when I was two she gave me chocolate buttons to stop my 'incessant crying'. I then came out in yellow spots and was taken into Great Ormond Street Hospital where I stayed for three months until a diagnosis was made. My siblings were then tested and it was found that my eldest brother also had the condition. My other brother and my sister do not have it.
What was it like growing up with it?
Growing up in the 1960s with such a rare condition was very difficult (I was diagnosed in 1964 aged 2). There was no nutritional labelling on food, and skimmed milk had to be ordered specially from the milkman. There was a complete lack of awareness or understanding of the need for special diets, so I was frequently ill with stomach aches. My way of dealing with this was to withdraw from other people, which had a big impact on me psychologically. By my late twenties I had had enough of being ill and feeling guilty about food and started the slow process of coming to terms with the restrictions the condition imposes on me. Around this time I met and married my husband of eighteen years (and counting), who, probably not unrelatedly, is a very good cook and who took on the challenge of preparing food for me that was both delicious and very low-fat.
Is it difficult suffering from a condition that is so rare?
I find it very isolating to have LPLD. Much of life revolves around food and drink, which instantly creates a stress for me. It is fine if I am managing my own food, but as soon as I am reliant on someone else to feed me it becomes problematic. It is always an effort to ensure that I will be able to eat what is provided for me, and I often either take my own food or make sure I have eaten before I go out. Holidays always need to be self-catered, and I need to be near a big supermarket to ensure there is a selection of foodstuffs I can eat. Spontaneity is difficult. To eat out in a restaurant or at a friend's requires a conversation beforehand about what can be provided for me. Not everyone is willing to do this. The only kind of restaurant I can eat out at without organising things first is a genuine sushi restaurant, but even there I will only be able to eat about three of the sushi toppings without worrying, which is very limiting and I never have an opportunity to decide what I would like to eat, as I always have to look for what I can eat.
Being pregnant is problematic with this condition, as fat levels rise in pregnancy, putting the LPLD mother at greater risk of pancreatitis, which is life-threatening for both mother and unborn baby. There is a raised risk of gestational diabetes, which I had in two of my three pregnancies (at six months from my second pregnancy and from the beginning with my third. High sugar levels are turned to fat, which exacerbates the LPLD problem. Having a very rare condition means that it is unlikely that anyone but the lipid expert will have heard of it, so there is a constant need to explain the condition to any doctor other than the specialist. Not much is known about how ageing affects LPLD, and I live in fear of losing my mental faculties and not being able to explain what I need to be fed to keep healthy.
You have set up a website for LPLD sufferers - what led you to get involved in this?
Having felt very isolated for much of my life, I began to contact organisations for rare diseases in the hope of finding others with the condition. It was through this that I became aware of RareConnect, which organises online communities for rare diseases. When I contacted them regarding setting up an LPLD website they initially thought they wouldn't be able to help as I wasn't backed up by a patient organisation, but I argued that I would never find patients unless they offered me a forum. Fortunately, they decided it was time to help very rare conditions like mine and the website was set up in October 2012. I am keen to share my experience of pregnancy with other potential mothers with the condition, as we are often advised it's too risky to have children. It takes a lot of discipline, but my three children are living proof that it is possible with the right knowledge and support.
What difference has it made to your life being in touch with others?
It has made quite a bit of difference. Firstly I no longer feel isolated. I now know of others who are experiencing the same restrictions as me, which somehow makes those restrictions easier to manage. It helps me to be more assertive about my needs, which in turn makes life easier and less restrictive. I also get a real thrill when someone new joins the online community, especially when it is the parent of a child with the condition, knowing the child will grow up with a community of others 'out there' who face the same issues as them.
What is the aim of Rare Disease Day?
Rare Disease Day aims to raise awareness of the fact that there are over 6,000 identified rare diseases that affect small numbers individually but together affect around 60 million people in Europe and the US alone. The theme this year is 'disorders without borders'. Cross-border collaboration can help people find common solutions and remind them they are not alone.
What advice would you give to parents who have a child with a rare condition?
It is hard to generalise, because there's such a variety of rare conditions. My advice would be to try and see life through the child's eyes and, if possible, to talk to them about what they find difficult about having their condition. Sometimes what a parent thinks may be problematic doesn't seem so to the child, and vice versa. Be aware that what feels difficult may change as they grow older. Try to find others with the same condition in order to share experiences, but don't expect that this will create instant friendships. It helps to know that many disabilities are hidden and many people are walking around with all sorts of conditions whilst looking perfectly healthy. Awareness-raising amongst friends, family, teachers, etc. is also vitally important. Try to keep healthy siblings aware of the difficulties that the condition imposes on the family but try to be understanding of the siblings' frustrations at living with the affected child. Try to strike the balance of not devoting all energies and attention to the child with the condition but balance their needs with those of the other members of the family.
You can find Jill's website through www.rareconnect.org
You can find more information about rare diseases at Rare Disease UK, the national alliance for people with rare diseases and all who support them.