Hello everyone, my name is Clair Willcocks, I am 27 years old and I am Galen Medical Nutrition’s new PKU blogger. I am an adult with PKU and I was diagnosed with Classical PKU 8 days after birth. I am on 5 exchanges of protein a day and currently taking the PKU EASY Microtabs substitute 6 times a day.
The blood testing process is an amazing invention, as said before, it means that PKU can be diagnosed and treated from birth, so anyone born with it has the best chance at a normal life. The only issue now is that there really has been no update as to how blood testing has been done since 1960. There are no home testing kits (thinking of the Covid-19 test kits, now readily available to the whole UK population!) home machines or local appointments we can go to. The blood spot must be taken at home once a month, sent via post to the lab to be tested and then result is given to the patient/parents via telephone call or email a few days or a week later.
The biggest issue with this, is that blood test result, which we’ve determined is really the only way how we can tell how well we are doing with our diet, is always just a reaction to how we’ve done. This means we can only ever review and reflect, so if the blood levels do come back unexpectedly high, I sit there and wonder “Why were my levels high, did I have a cold, did I eat out at a restaurant for a meal in the past few weeks, am I accidently eating something that has more protein than I thought?” There’s no chance for actual preventive action, unlike diabetics for example, who can do blood test at home and then decide what to eat based on their blood sugar level. Diabetics can also do their blood test multiple times a day, whereas adults with PKU can only do it once a month.
There are also some cases when you could have the best month in the world, but on the day that the blood test needs to be taken you might just happen to get a cold, which can also make your blood levels high or worse still, the blood test gets lost in the post, so it can put a lot of hard work to waste and you’ll never know whether your hard work was going to be rewarded with a good blood level.
Living with PKU every day, being on diet, weighing and measuring every mouthful is a big enough challenge without also then finding out your blood results come back as higher than expected despite your best efforts, it can be hugely demotivating and can push you over the edge to think “well what’s the point then!”. On the other side of it, getting a positive result, being able to see your blood levels improving month by month is such a great feeling to know you are finally on the right track and it can give you the motivation needed to carry on with the diet. But either way, as flawed as it may be, blood tests are still the only way we can truly get tangible feedback on how we are doing. Something clearly needs to be done to change the way we monitor our blood levels.
Home testing kits have been a discussed desire in the PKU world for as long as I can remember, and honestly, they would be the innovation that could change the way people live with PKU forever. We know the awful symptoms of having high Phe but still our blood levels are the only way to determine how well we are doing, so how can we be limited to once a month for something that is so vital? If we could take our blood tests at home, even just once a day, with a home testing kit and the results can show half an hour on a piece of paper or on an app (I’m not picky!) it would mean rather than using the levels as a means of observation we can actually use them to make real effective change, for both parents of children with, young people and adults with PKU.
We could see the physical results of what going off diet does, what impact it makes on our bodies. We could see what works for us and what doesn’t work, we could make real and effective change to our diets and our lives. Never mind the impact it would make on the more vulnerable members of the community, like the children diagnosed with PKU and their parents, who need to keep a very close watch on their children’s level, so their child can develop and grow as healthy as possible. Also, maternal PKU’s who must stay on an even stricter version of the diet, to keep their baby as safe as possible from potential high Phe levels. As during pregnancy, a PKU person will have to do blood tests once a week for the whole 9 months!
So why don’t we have a home testing kit yet? It seems like such an obvious answer and it has been so long since the original technology was discovered. It clearly works as a form of treatment because other conditions do require the use of some form of blood testing procedure at home to be able to treat own conditions. However, unfortunately the reason I think we don’t have this technology yet is because testing of the Phe level specifically in our blood is an extremely complicated and expensive procedure. I can only hope that as well as all the other innovations, medications and treatments that we are fighting for, that the home blood testing kit is something that is not being forgotten, as it is such a basic need for treating PKU and would benefit everyone in their day to day lives, both parents of children with PKU, young people with PKU and adults with PKU.
Date of preparation: August 2021