DIY Diagnostic: A Life-Changing Test for PKU Patients | Nathan Kuehne | TEDxVictoria
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DIY Diagnostic: A Life-Changing Test for PKU Patients | Nathan Kuehne | TEDxVictoria

Translator: Amber Rignell
Reviewer: Jeonggyu Kang “Dear Nathan, Thank you so much for your note. I was born and raised in Victoria, and I’m an advocate for
Phenylketonuria, or PKU for short and very active in the community. This post is gathering so much
attention in our PKU world. It truly feels like a dream. Right now, I test my blood at home,
place the blood on filter paper, and mail it to the newborn screening
laboratory in Vancouver. It takes ten days to get my results back. If my levels are high,
damage is already being done. This device will change that. The reason why this is so important
to me in particular is that, as a woman living with PKU, I have to be very careful
about my maternal PKU diet. I have to keep my levels down
for 3 to 6 months prior to conceiving, as well as during the pregnancy as a baby that is born with
high maternal PKU levels can be born disabled, handicapped,
or even deformed. For this reason, my husband and I
have put off having a child until I could test my levels
at home with a device. This has been my dream: to have a
healthy pregnancy and baby. I want nothing more than to be a mother,
and this device helps me do that. I am so excited for the future,
so thank you again. ” I received this email in late may of
the last school year from a PKU patient here in BC
named Amanda. This was after she learned about my work
into PKU management and my development of an at-home test that helps PKU patients
stay on top of their condition. Now you may be wondering
“What in the world is PKU?” Well PKU is short for Phenylketonuria
a genetically inherited disorder where the body cannot process
the amino acid, phenylalanine. It is farely rare, affecting only
1 in every 50 thousand people worldwide. In a healthy individual, an enzyme
converts the amino acid phenylalanine into another amino acid called tyrosine. But if you have PKU, your body
can’t make that conversion happen and instead phenylalanine builds up. If left untreated, it can have a huge
impact, that is cause huge damage
to a person’s body, potentially leading to severe neurological
defects and motor degradation: loss of IQ, loss of memories, mental retardation, confinement
to a wheelchair, loss of limb function. The list goes on and on,
just like Amanda said. There is no cure for PKU, and no way to
treat symptoms once they develop. The only way a patient can
deal with their condition is by preventing symptoms from
developing in the first place. Phenylalanine is commonly found
in high-protein foods so a low-protein or a low-phenylalanine
diet is the only way PKU patients can try to stay on top of their condition. But, with any diet,
it’s hard to know whether you’re following it strictly enough or not, or in the case of PKU patients, how much phenylalanine is in their body. This is a problem that they deal with
on a daily basis for their entire lives. Amanda accurately described the only way PKU patients can currently test their
levels at home by sending a blood sample to a lab, and waiting up to 2 weeks for results. In that 2-week period, high levels of phenylalanine could already be doing
damage to their body. As well, a 2-week wait time makes
self-correcting a diet a huge challenge, something that is critical to
PKU patient’s health. This problem in current PKU management was also identified by
the company Innocentive, which issued a global challenge on behalf of the
National PKU Alliance of the US for developing an at-home test for
phenylalanine. Upon hearing about this void in current PKU management techniques, I decided I would try to fill this gap and produce
an at-home test. My goal was for it to be rapid, reusable, inexpensive, and run off a urine sample,
not a blood sample. If successful, I would have a huge impact
on PKU patients, maybe even around the world. Now you’re asking, “Well how does
a grade 11 student even think about tackling a real world problem
such as this?” And I’ll admit it’s unusual. And the answer to this is science fair. My science fair journey started in
a science 9 classroom at glenlyon norfolk school where
as part of the course I was required to produce
a science fair project. I took that project to the Vancouver
Island regional science fair held annually here at
the University of Victoria and then onto the Canada wide science fair or the National Science Fair
which was that year, held in Lethbrige, Elbreda. Now, I did win a silver medal,
but that’s not the important part. What was important were the awe-inspiring
projects I saw other students producing. Possible treatments for cancer,
new types of batteries, fundamental theorems for physics. It was truly mind-blowing work, and when I returned home, I asked myself “What is stopping me from doing this kind
of work here in Victoria ?” I went back to the National Science fair
the following year, with a slightly different project: one of detecting multiple types of
tumor-based cancer through a urine sample. Now I had graciously
been allowed to work at a University of Victoria chemistry lab under the supervision of Dr Fraser Hof and the mentorship of my science teacher from school, Aaron Dallin. But I wasn’t satisfied. My ultimate goal was to create something like a pregnancy test, but instead for cancer, where
from a urine sample, a simple color change, would indicate the presence of tumors in the body. In trying to make this work, I tried to do a color-change test because it was the easiest way to do it and, in doing
these experiments I randomly tried phenylalanine, one of the 20 essential amino acids. I had no idea at the time that it was a biomarker for a huge and awful condition that needed worldwide attention. When my color-change tests
started working better for phenylalanine, than they did for cancer this started me on
a path toward developing a management system for PKU patients. Now to tackle this challenge I broke it down into two key parts: First I had to develop a chemical protocol to identify the presence of phenylalanine from a urine sample. Ideally this would be a color change because it is perhaps the easiest way to determine the outcome of a chemical test, especially for the untrained eye. Then because my goal was for this to be used as an at-home test, I would have to devise a device or somehow house my chemical protocol in something so the average PKU patient, who may or may not
have motor difficulties, could run the test on their own. So first, the color change. Recent studies had pointed toward gold nano-particles, as an easy way of producing color changes because they appear purple in water, but initial tests produced no good results as phenylalanine had
no effect on the color. I then read a scientific article about how you can synthesise or produce gold
nano-particles from scratch, using gold chloride in a base. Fortunately for me,
this worked perfectly with phenylalanine, as the addition of phenylalanine to gold chloride in a base, made a solution go from clear
to dark purple. This was exactly the color-change I had in mind, but there was a problem. I had to make sure it worked in
a complex biological medium like urine, and it didn’t. A common compound in all of our urine called creatinine actually blocked
the color change. So even though there was plenty of
phenylalanine in the sample, the solution would remain colorless. This was a huge problem because a PKU patient might have life-threatening levels of phenylalanine in their body, but the test would still produce a negative result. This meant I had to
filter my urine sample. And to do this I used a process called SPE or “Solid Phase Extraction”. How this works is you push urine through
a solid filter and all the compounds and urine will stick to the filter and then you push through different solutions afterwards. In each solution, different compounds in that filter unstick themselves and are washed away. After six different solutions all that was left of my filter was phenylalanine. Now I’m sorry, and bear
with me here, but let’s say that all of you are parts of human urine,
and this hall is the filter. With the first push of solution, let’s say I say “All people with the brown hair, stand up and leave. You can’t come back.” The with the next push, it’s
“All people with blue eyes”. Until at the end of 6 steps, there’s only one person left in the audience. In my case, that was phenylalanine. I’ve even added my gold chloride base to my filter and the filter itself
changed color. At this point I was really happy with
the chemistry as I had identified the presence of
phenylalanine and also made it work in a urine sample. But the problem was is that this SPE or
solid phase extraction process was very complicated and not at all suited to an at-home test run by a patient. This made the device I was going to house my protocol in even more vital. So I turned my attention to
designing the device, and I chose to 3D print it because 3D printing allows for easy changes
to design as well as a short and rapid
production cycle. I was very fortunate to have the support
of Warren Strome of Revolution 3D printers to aid me in this process. Over the course of 5 months, 5 different
prototypes were built, analysed and improved upon until we arrived at the final design. So this is the device that I designed. As you’ll see, there’s a center column and
seven outer syringes. The seven are for each step in the
SPE process. The patient would put their urine into the center column which is where
this filter is. In the lid there are 2 rollers
at different heights. One, two. On the top of the syringes, is a slanted wedge so as the patient turns the cap,
it pushes that syringe down. Underneath the liquid in that syringe would go through a tube,
through a one-way valve, and with the same pressure, through the filter. The patient does this seven times, and after 7 steps, they look inside and see what the color of the filter is. The more purple, the more phenylalanine
in their body. I also designed the device to be reusable as PKU varies from patient to patient. Some may have to test every week, some every 2 weeks.
In severe cases, some every 3 days. So I’ve designed it with a disposable insert, so each time that a PKU patient wants to run a test, they’d purchase a new filter and all the required chemicals at once. This means that they only have to buy the overall device once and each time they run a test, it’s
a new insert. As you can see, this device excessively fulfills the goals I had for this project. It’s rapid, takes about 10 minutes to run, reusable-there’s an insert that can be taken in and out- it’s inexpensive-production costs are very very small-and it runs off a urine sample, not a blood sample. But this is just one more step
in a long journey, and it is by no means a finished product. There are a plethora of potential improvements to be made, whether that’s the device itself or the underlying
chemistry. Either way, my end goal and
dream is for this to be used in the homes of PKU patients around the world, making a concrete difference in their lives. Last spring, I filed a provisional patent on my device, and this last summer have spent it in the lab working on PKU
management. What my final product will look like I have no idea, but like Amanda, I am very excited for the future. A favorite quote of mine is one by George Bernard Shaw, and it reads “People who say it cannot be done should not interrupt
those who are doing it” (Applause.) And this just doesn’t apply to one fairly ambitious high school student. It really applies to us all. There will always be people who say “It cannot be done” for a variety
of reasons. There’s not enough time, not enough
resources, or it’s simply not possible. Persevering through these challenges can not only help ourselves, but can also help people we don’t even
know we are impacting. People like Amanda, who have new hope that a management system
is being developed so she, and people like her,
can live their lives to the absolute fullest. So I challenge all of you : don’t be one of the people who say it cannot be done. Instead, be one of the doers and if not, well then please step aside because we, have work to do. Thank you very much.

16 thoughts on “DIY Diagnostic: A Life-Changing Test for PKU Patients | Nathan Kuehne | TEDxVictoria

  1. wow what an amazing contribution to the pku community, I hope this student gets all the funding and support he needs to achieve all his goles pku and others

  2. I so ridiculously proud of you Nathan. Thank you again so very much . I still look foward to meeting you when I'm home next in Victoria. Hearing you read my email at the beginning of your speach gave me chills ! I'll be watching you and expect greatness for your future !

  3. What you are doing is absolutely amazing and it gives me so much hope for my sons future with PKU and a life with stable levels. Thank you, thank you, thank you!

  4. Nathan this is just so fantastic and I so hope to see the end result of your device world wide in every chemist/pharmacy and doctors surgery!! Great public speaking to WELL DONE!! And THANK YOU!!

  5. I quick google search shows that this "DIY Test" isn't available, or at least available to the public. It is now 2017, how is this helping ?

  6. Вот это да! Какой молодец! У нас путь 2 недели занимает…тоже ждать приходится. Будем очень ждать новостей!

  7. Oh my you are one brilliant guy!! My daughter has pku and this would be a life saver. How can we help you in making this happen?

  8. Hi Nathan,

    This is absolutely fantastic! This would be such a game changer in my everyday life… By far the most exciting development in PKU research (in my opinion). Are you still working on this?? I'd love to know if this is any closer to market… where can I find more info??

    Thank you so so so much for your hard work!!

  9. I am so excited and I truly hope Nathan is successful with the urine test for PKU. Having PKU and see all the new products such as low pro foods, better tasting formula's and medication that can help myself as well as my fellow PKU'ers adhere their diet. Conquering PKU one step at a time. Kudos to Nathan what a accomplishment for this young man.

  10. I have classical pku and always thought about something like this. It would make monitoring levels so much easier and faster <3 awesome idea

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