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.