In 2008 Health Canada  approved the Kuvan for the use of treatment for PKU.

Kuvan is made from,  bh4 . Also known as tetrahydrobiopterin  which can be found naturally in the body .  In a Person who does not have PKU , BH4 stimulates the PAH Enzyme in the liver to breaks down phenylalanine from protein and change it into tyrosine. Tyrosine is a amino acid used by the body to produce norepinephrine which is a neurotransmitter that effects mood.  A person with PKU who has deficient or very little PAH enzyme activity cannot break down phenylalanine or make the conversion to tyrsoine. So the  phenylalanine which is toxic to the brain, builds up and accumulates . Bombarding the Blood brain barrier and can lead to severe brain damage.

For the longest time ( since the 1980s) a low protein diet and medical formula was the only treatment for PKU.  We have to follow a diet where we restrict the amount of protein we eat to keep the level of phenylalanine in our blood in a non toxic range. For every 1 gram of protein we eat, that is 50 mg of phenylalanine.  I need to keep my daily intake of food I eat under 8 grams of protein. or 400 mg of PHE.  Then along with my low protein diet, I drink a medical powder formula that I call my milk. This is how I get protein with out any phenylalanine as well as all the other important amino acids, nutrients and vitamins i miss from my diet.

Now over 30 years later with all the new research and diversity in the medical feild , researchers have discovered treatment for PKU should have more of a variety. specially since we now know, that the many forms of PKU are determined by our individual genes.  We all have different mutations.  We need a 3 pronged approach to treatment.  Diet. Formula. Pharmaceutical drugs.

This is wear Biomarin comes in. the drug company that is manufacturing medications for PKU.  Biomarin has currently made 2 different drugs for the treatment of PKU.

Kuvan a pill form medication and Palynziq an injection similar to Insulin for diabetics but for PKU.

Biomarin has synthesized KUVAN making it a medication with the BH4 as the active ingredient  to give PKU patients with some enzyme activity a  boost to try to kick start the enzyme activity into breaking down phenylalanine .

There are a few different forms of PKU ( classifications) Kuvan only works on some forms of PKU where the patient has little enzyme activity already.   I am classical PKU. The rarest and most extreme form of PKU. So I have 0 PAH activity. none. at all.

This means , Kuvan will not work for me. It may work to help me with my depression and anxiety symptoms but it will not treat my PKU.   Kuvan works best in mild and hyper classifications of PKU.

When KUVAN is used in treatment for PKU patients with hyper or mild PKU , the enzyme activity is given a boost and it is able to break down more phenylalaine.  This means the person can now eat more regular and higher protein foods. It is not a cure. IT does not make the PKU go away. We still need to monitor our levels and our diet.  Though , by being able to tolerate more PHE and protein , the person can now enjoy a more well rounded healthy, whole nutrition diet.  They are not so dependent on the low protein medical foods that are highly processed, high in carbs and refined sugars. They can have more natural proteins from food instead of our medical formula.  This also increases their intake of natural , non synthesized vitamins, minerals and amino acids.  This not only improves quality of life but also has a huge impact on ones health when they dont have to rely on such a synthesized diet.

Again Kuvan does not work for everyone with PKU.

But, the new drug ( injection) Palynziq IS suppose to work for all forms and classifications of PKU.

Chemically , it is a pegylated derivative of the enzyme phenylalanine ammonia-lyase that metabolizes phenylalanine to reduce its blood levels. It was approved by the Food and Drug Administration for use in the United States in May 2018. After completing many human trials.  I still do not know to much about it.  To learn more about Palynziq please visit : https://www.palynziq.com/hcp/

Palynziq has not been approved in canada , because it has not been developed here, or used or tested. For the longest time, Biomarin did not own the rights for it here in canada. Some German company held the rights. They did not know what it was for and did not care to develop it. Biomarin has very recently obtained the rights here in Canada. However there is still no plans to develop it or bring it into canada that I know of.

Since 2010 Canadian PKU and allied disorders , myself and our team of advocates have been fighting hard for access and coverage for the use of  KUVAN to treat PKU all through out Canada. We have faced a lot of push back from our governments across the country. I think Kuvan is only being used in 2 or 3 provinces and covered in 1. BC wont even come to the table anymore to discuss or negotiate. I myself have met with local MLAs and Terry Lake when he was the health minister.

PKU is so rare, only 1 in approx 10-15 thousand babies born are diagnosed , then out of that only a percentage with benefit from KUVAN. The people are able to use KUVAN require a large amount of pills daily. The dosage is bsaed on the persons weight. I think when I was trialing KUVAN I had 8 to 16 pills to take daily.  So this could cost upwards of 80,000 dollars or more.  For these reasons and because despite our submitted studies, documentations, research and health Canada approval the government tells us they dont see enough evidence that it beneficial enough to treatment or for them to cover.

Because of this difficulty of trying to get KUVAN covered Biomarin has little to no hope we will have any success with Palynziq. Even thought it is suppose to be usable by everyone with PKU.  Though this would make it much more costly.

My argument to the government is this. What is more expensive? Funding a drug for a percentage of an already small population of people that will change their lives and make them more healthy. Or , Paying for the consequences of PHE levels and there symptoms?

Let us not forget, untreated and unmanaged PKU can lead to many many horrific side effects.

Cognitive impairments , developmental and neurological disabilities. Brain damage, Feeling “foggy,” or a slowed processing of information , Behavioral or social problems , Problems with memory, Inattention , Difficulty in decision making, problem solving, and planning , Depression , Anxiety and Irritability. The level of severity of these side effects can leave a person to be an un-functioning member of society or a serious burden to the medical system.

Heck!! before PKU was discovered in the 1960s, people where miss diagnosed  or not diagnosed at all. Leaving them mentally handicapped by 6 months of age, and being institutionalized in group homes. some in a vegetative state.  That is an even way bigger cost to the government and our society then funding a treatment that can make people with PKU live completely normal and healthy lives. To be a contributing member of society and communities.

I know for myself, when my levels are high specially for a long amount of time, it not only impacts my mood and my brain, but my body physically too.  In the past I have struggled just to go to work and keep my job. I struggled all through out school as a youth and nearly failed out of school because I could not pay attention or retain information. My high PHE levels gave me learning disabilities and i struggled so much specially with math and science.  When I grew up, got healthy and was able to manage my diet, I went on to college 5 years after high school and became a nurse. I had great greats.

I struggle with compliance though.  Managing the diet day to day, measuring my food, tracking my intake, avoiding higher protein foods, not cheating on my diet , eating only low protein foods and doing regular blood tests on myself then mailing them in the mail to get my results 10 days later can really take a toll. Sometimes the day to day life gets in the way and the easiest thing to let go of is self care.  it is easier and quicker for me some nights to eat rice for dinner and not plan out my low protein meals or calculate and weigh. Its faster to eye ball my meals when I have a daycare to run and a child to raise as well as looking after my home and my family.  Some days its just easier to eat regular bread or potatoes instead of having to make mine from scratch from medically made baking powders. I dont always have the time to set aside to meal prep and plan and make foods from scratch. I dont have the luxury of being able to go out to the grocery store and pick out my foods. I have to order them online from Montreal and have them shipped to my house. These medical foods are so critical and are made not to have protein or phenylalainine in them , and sometimes they are just not tasty or healthy for you . because of the carbs and sugars and calories.

My battle with my PKU and beings stable is so dependent on my access to treatments available to me.  I should have the same aces as anyone else. I have the right to be healthy and to have a higher quality of life.  I just want to have aces to all the tools in the tool box so I can live my best life and be my best for my family, friends, and community.

Canada has a long way to go in the treatment of rare diseases . We need a national health care program.  Until this happens, and until we get the aces and coverage we need to keep our brains and our bodies healthy, I will not be silent. I will not stop trying to advocate and lobby to the government for all the others with PKU like me.

I strongly encourage anyone else to join our fight. Alone we are rare, together we are strong. It is my mission to educate the public on PKU and what is is and how they can help. One more person who knows what PKU is ; the less rare that it is, the higher chances we have of our governments listening to our voices.  The more people who educate themselves on our needs and our wants , is one more person who can make informed votes and decisions on whom we elect to help our cause.  We need to be voting for a movement that works for everyone.

This is our fight. Thank you for listening and being apart of it. Please feel free to share or contact me if you would like more information on how you can help and what you can do .

Thank you for reading.

Amanda C

 

Links:

PKU and the brain

https://www.pku.com/about-pku/phe-in-the-brain

Kuvan:

https://www.kuvan.com/

Palynziq

https://www.palynziq.com/approved

CanPKU

http://www.canpku.org