La situation du Palynziq au Québec: Sur les ondes avec "Lagacé le matin"

The situation of Palynziq in Quebec: On air with "Lagacé le matin" (English below)

La situation est complexe au Québec avec le Palynziq, un médicament très efficace dont l’objectif est de réduire la phenylalanine dans le sang des patients qui ont la phénylcétonurie dans le but de protéger la matière blanche de leur cerveau et d’ainsi améliorer leur cognition à long terme. Malheureusement, il n'est pas facile de trouver un assureur qui accepte de le couvrir.

Marika Laurendeau et sa fille, Gaïa Carey (qui est phénylcétonurique) en ont parlé avec Patrick Lagacé le 18 février à l’émission “Lagacé le matin”. Je vous invite à écouter l’entrevue ci-dessous.

Discussion

Il est vrai que le traitement actuel, un régime extrême pauvre en protéines, permet d’éviter le pire, mais il est imparfait. Non seulement il n’est pas infaillible (car énormément de facteurs peuvent faire augmenter le niveau de phenylalanine dans le sang, le stress, le manque de sommeil, l’exercice physique, le manque de calories, le rhume, etc.), mais en plus il est source de conséquences importantes :

• Conséquence sociales: Tout le monde veut être normal, mais nous sommes différents. Que ce soit à l’école lorsqu’on sort nos aliments faibles en protéines ou nos acides aminés ou au niveau professionnel quand doit négocier avec ses collègues pour choisir un restaurant, rien n’est facile. Cela peut entraîner des conséquence à longs termes. Ceci a d’ailleurs été étudié, par exemple ici Psychological and social findings in adolescents with phenylketonuria et ici Living With Phenylketonuria From the Point of View of Children, Adolescents, and Young Adults: A Qualitative Study.

• Conséquences psychologiques: Des taux élevés de phenylalanine peuvent cause de l’anxiété, de l’incertitude et de la dépression même en faisant les meilleurs efforts pour respecter le régime. Voici une étude qui traite du sujet: Psychiatric and Cognitive Aspects of Phenylketonuria: The Limitations of Diet and Promise of New Treatments.

Peu de personnes peuvent maintenir un contrôle alimentaire complet à vie, et même avec un bon contrôle, un risque élevé reste —en particulier— pour l’humeur, l’anxiété et les troubles d’attention tout au long de la vie. De plus en plus, les recommandations diététiques visent à maintenir un traitement continu tout au long de la vie pour optimiser les résultats psychiatriques et cognitifs, bien que l'effet des régimes protéiques à long terme sur la fonction cérébrale reste inconnu.

• Conséquences sur la santé globale: Par exemple, notre alimentation est riche en glucides, ce qui peut causer problème. J’en ai justement parlé récemment ici: Résumé d'étude | Statut des glucides chez les patients atteints de phénylcétonurie.

Le problème avec le Kuvan

Le Kuvan est un excellent médicament qui peut aider certaines personnes aux prises avec la phénylcétonurie. Il agit sur l’enzyme responsable de traiter la phenylalanine en la rendant plus efficace. C’est aussi exactement le coeur du problème, car il existe différents types de phénylcétonurie. Certaines personnes avec la PCU ont une enzyme défficiente, mais qui fonctionne suffisamment pour lui donner un coup de fouet avec le Kuvan. C’est pour eux que le médicament fonctionne bien. Mais il existe certains patients qui n’ont carrément pas l’enzyme ou bien qui l’ont, mais qui est tellement inefficace que même le Kuvan ne peut la faire fonctionner.

Ce qui est mon cas, ce médicament ne peut m’aider.

Actuellement, le Palynziq est le seul traitement disponible approuver par Santé Canada qui pourrait avoir un impact positif sur ma santé.

Les membres de la communauté PCU veulent la même chose que tout le monde. Une vie normale et contribuer à la société avec leur plein potentiel. L’accès aux traitements les plus efficaces et récents est une priorité pour y arriver.

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The situation of Palynziq in Quebec: On air with "Lagacé le matin"

The situation is complex in Quebec with Palynziq, a very effective medication whose objective is to reduce phenylalanine in the blood of patients who have phenylketonuria in order to protect the white matter of their brain and thus improve their cognition in the long term. Unfortunately, it is not easy to find an insurer who agrees to cover it.

Marika Laurendeau and her daughter, Gaïa Carey (who is phenylketonuric) spoke about it with Patrick Lagacé on February 18 on the show "Lagacé le matin". Since the interview was in French, here is the English transcript.

Patrick (P): I want to talk to you this morning about a young woman who doesn't have it easy and who hopes for a drug to improve her quality of life. Gaïa Carey has lived for 18 years with a genetic disease that severely limits the amount of protein she can eat and without it, she risks damaging her brain cells. It's a very, rare orphan disease and you know it, eating protein, it's essential to life. I welcome to the studio Gaïa Carey and Marika Laurendeau, Gaïa's mother. Hello to both of you.

Marika (M): Hello.

P: Gaïa, we're going to start with you. First, thank you for being here. What is it that causes a genetic disease that prevents us from eating protein?

Gaïa (G): Basically, when I take too much protein, it goes into my blood and therefore it goes to my brain. Then after that, celebratory, I have a lot of consequences. I have trouble concentrating. My grades at school drop drastically. My emotions, I am very, very, very bitter or sad. Then, there are not many happy emotions.

P: So proteins, vegetable proteins and also animal proteins, it's the same thing. There is no change.

G: Exactly.

P: I turn to your mother whose name is Marika Laurendeau. Marika, you wrote to us because Gaïa just described her problem.vIt's a very, very rare problem. I'd never heard of it. There's apparently a drug that could change her life.

Marika (M): Completely. It's called palynziq. It's a drug that's been available in the United States for about five years. It's a drug that causes the levels of Phe in her blood to drop. That is to say that Gaïa, it’s phenylketonuria. Her body is not able to metabolize part of the protein, one of the amino acids which is phenylananine. So, we'll say “Phe”, the diminutive is simpler. So, her body is not able to metabolize the Phe, which means that it builds up in her blood and affects the brain. And just to understand the seriousness, before 1969 in Quebec, before newborn screening, the heel prick at the hospital, people developed profound mental retardation.

P: Ok! Because… by eating protein, it caused brain retardation. It affected the brain.

M: Exactly.

P: Ok. This medication exists in the United States. Here, in Quebec, what is the situation regarding access to this medication?

M: In fact, since last summer, it has been available in Canada.

P: Ok.

M: It is still a medication that requires a certain protocol. So, hospitals must prepare to be able to administer it to people who have Gaïa’s disease. So, as of last November, Gaïa’s hospital was ready to administer it, to start taking this medication. So, we made the request to Desjardins, several steps, and again today - as of today - it is still the refusal to reimburse this medication.

P: So, Desjardins insurance refuses to compensate, but I think there is at least one other Quebec insurance company that covers this medication.

M: More than one. Beneva and there is another one that I don't know which one it is, but I was told it was another big company.

P: We checked, and Beneva covers this medication. What is Desjardins' justification for not covering this drug that is covered by the competitor?

M: What they say is that the current treatment works according to them. So, Gaïa's extreme diet works.

P: The treatment being, I mean, extreme protein limitation and a very strict diet.

M: Exactly. So, what they say, is… Well, actually, it’s not true because Gaïa, on several occasions over the last few years, she’s had levels of Phe in her blood that were higher than what they recommend. I don't understand why they say it works. It's like they forget all the cost associated with the daily routine of the regimen. So, that's it. For me, I don't consider that since she has no quality of life, I don't consider that the treatment works

P: Ok, Gaïa, this medicine, what's its name, Marika?

M: The Palynziq.

P: This medicine, Gaïa, the Palynziq, how would it change your life?

G: That's because, on a daily basis, for me personally, it's quite difficult. It would completely change my life because on a daily basis, just getting up and going to the grocery store, I remember that I have this disease and I see all the food that I could eat with my friends, go to McDonald's because all my friends want to go to McDonald's or wherever and me, I can't.

P: At the same time, Gaïa, it's fun to go to McDonald's, except that this medication would allow you, I imagine, to have a more normal diet, to get proteins without suffering.

G: Exactly. I could do all the things that are... that I can't do today. Just feel normal for once, which would be quite different, because for the last 18 years, that's not how I feel. Then, I could just eat normally, and then finally feel normal.

P: Then, because your life, since you were born, deep down, Gaia, is being on the fringes of the world. How much does this medication cost, Marika?

M: What I was told is about $10,000 a month. But what's important to know, is that right now, Gaïa is still taking a medication, Kuvan, which helps her a little bit, but it doesn't change much. At the end of the day, the regimen is still as strict. It's the same cost as the medication she's currently taking.

P: Uh?

M: Yes, that's why I don't understand.

P: Ok, wait. So, Desjardins reimburses a drug that is not effective for her at the same price as a drug that would be super effective?

M: Exactly.

P: Ok. Listen, thanks for coming to talk to us about all this. I hope that will unblock. I know that the issue of coverage for certain medications, is always complex, whether with the public plan, with private plans, like... In your case Desjardins, I hope that it will be resolved. What you are telling me is a bit absurd. We are already paying for a medication that is not very effective, which costs the same price as one that would be very effective. Listen, do you have a final message, let's say, maybe for the people at Desjardins Assurance?

M: I would really like the coverage, because they have the chance… we have the opportunity to change someone's life at the same cost.

P: At the same cost. That's what strikes me in your story.

M: Exactly.

P: Ok. Gaïa, good luck.

G: Thank you very much.

P: We hope… we wish you a normal life, very quickly. Maybe someone will see the light. In any case, that's what we wish for you. Yes, Marika Laurendeau does the sign, she crosses her fingers like that. We cross our fingers for you. Thank you for coming to speak to us in the studio. To both of you, good luck with all this.

M/G: Thank you!

P: Marika Laurendeau, Gaïa Carey's mother, who has a genetic condition that severely limits her diet.

Discussion

It is true that the current treatment, an extreme low-protein diet, helps preventing the worst, but it is imperfect. Not only is it not infallible (because many factors can increase the level of phenylalanine in the blood, stress, lack of sleep, physical exercise, lack of calories, colds, etc.), but it is also the source of important consequences:

• Social consequences: Everyone wants to be normal, but we are different. Whether at school when we take out our low-protein or low-amino-acid foods or at work when we have to negotiate with colleagues to choose a restaurant, nothing is easy. This can have long-term consequences. This has been studied, for example here Psychological and social findings in adolescents with phenylketonuria and here Living With Phenylketonuria From the Point of View of Children, Adolescents, and Young Adults: A Qualitative Study.

• Psychological consequences: High phenylalanine levels can cause anxiety, uncertainty, and depression even with the best efforts to adhere to the diet. Here is a study that deals with the subject: Psychiatric and Cognitive Aspects of Phenylketonuria: The Limitations of Diet and Promise of New Treatments.

Few people can maintain complete dietary control for life, and even with good control, there remains a high risk of—particularly—mood, anxiety, and attentional problems throughout life. Increasingly, dietary recommendations aim to maintain continuous treatment throughout life to optimize psychiatric and cognitive outcomes, although the effect of long-term protein diets on brain function remains unknown.

• Global health consequences: For example, our diet is high in carbohydrates, which can be problematic. I recently wrote about this here: Study Summary | Carbohydrate Status in Patients with Phenylketonuria.

The problem with Kuvan

Kuvan is an excellent medication that can help some people with phenylketonuria. It works on the enzyme responsible for processing phenylalanine by making it more efficient. This is also exactly the heart of the problem, because there are different types of phenylketonuria. Some people with PKU have a deficient enzyme, but it works enough to give it a boost with Kuvan. That is why the medication works well for them. But there are some patients who do not have the enzyme at all or who have it, but it is so inefficient that even Kuvan cannot make it work.

Which is my case, this medication cannot help me.

Currently, Palynziq is the only treatment available approved by Health Canada that could have a positive impact on my health.

The PKU community members wants the same thing as everyone else. A normal life and to contribute to society with their full potential. Access to the most effective and latest treatments is a priority to achieve this.