Rare Diseases

Profiter de chaque instant que la vie nous offre

Vivre avec une myasthenia gravis généralisée signifiait souvent vivre avec des restrictions. Cela change grâce à de nouvelles alternatives.

Anne Papmehl

Àl’âge de 17 ans, Gassan Akl a soudainement été incapable de soulever un verre d’eau. Cela était inhabituel pour lui, un étudiant très actif qui s’entraînait tous les jours à la salle de sport. Ses parents l’ont emmené à l’hôpital, où les médecins ont reconnu ses symptômes. Après une série d’analyses, ils ont confirmé le diagnostic.

Il était atteint de myasthenia gravis généralisée (MGg), une maladie neuromusculaire auto-immune. Le système immunitaire produit par erreur des anticorps qui bloquent les récepteurs de la jonction neuromusculaire; la région où les cellules nerveuses se connectent aux muscles.

Une perte graduelle de l’indépendance Les signes et symptômes spécifiques à cette maladie rare impliquent une faiblesse variable des muscles volontaires. « De nombreux groupes de muscles peuvent être impactés, résultant en différents schémas de faiblesse », explique Dr. Amanda Fiander, neurologue chez Maritime Neurology, une clinique privée située à Halifax (Nouvelle-Écosse). « En plus d’une faiblesse dans les bras ou les jambes, les symptômes peuvent comprendre une vision trouble ou dédoublée, des paupières tombantes, une mauvaise articulation, des difficultés à mâcher ou à avaler et des difficultés à respirer. »

Akl présentait la plupart de ces symptômes de la MGg. Au cours des 11 années suivantes, il est devenu de plus en plus dépendant de ses proches qui l’aidaient dans des choses simples comme monter les escaliers. Pendant ce temps, il a reçu un traitement conventionnel par immunothérapie, qui comprenait des visites à l’hôpital deux fois par semaines de 8 h 30 à 15 h 00. Finalement, la maladie a progressé et est devenue plus agressive, il a dû arrêter le travail et l’école.

Le traitement pour la MGg est resté le même au cours des 50 ou 60 dernières années. Il existe cependant de nouvelles options de traitement pour une prise en charge plus efficace de la maladie et une amélioration globale de la qualité de vie des citoyens canadiens souffrant de MGg. Il y a deux ans, Akl a commencé l’une d’entre elles et est devenu une tout autre personne. « Je peux de nouveau m’entraîner à la salle de sport, courir et être indépendant », a déclaré Akl, maintenant âgé de 30 ans. Il suit actuellement une formation de barbier et a recommencé à aller à l’école.

L’importance de reconnaître les signes et symptômes Heureusement pour Akl et parce que l’infirmière aux urgences a reconnu la MGg, il a reçu le bon diagnostic et a été traité très rapidement. « Reconnaître la maladie est essentiel car la MGg peut causer un handicap significatif », explique Dr. Fiander. Cela peut parfois être compliqué car certains symptômes de la MGg peuvent être confondus avec d’autres troubles neurologiques ou pathologies nonneurologiques.

En plus d’un bon diagnostic, il est essentiel que les personnes souffrant de MGg passent des examens réguliers auprès de leur professionnel de santé (PS) afin de surveiller la maladie; dans le

cas d’Akl, ces examens ont lieu une fois par an avec son médecin. « Étant donné la nature variable de la maladie, des examens réguliers effectués par le PS sont importants afin de vérifier que l’approche de traitement est à la fois efficace et appropriée à ce patient », explique Dr. Fiander. « Les symptômes de la maladie peuvent changer avec le temps, parfois très rapidement; cela nécessite donc une modification ou un ajustement du traitement. Il est mieux d’ajuster le traitement de façon anticipée afin d’éviter les crises. »

La vie d’Akl ne fait que devenir meilleure. Il n’est plus obligé de passer plus de 12 heures par semaine à l’hôpital et son nouveau traitement nécessite une visite d’une demi-heure à l’hôpital et ce, une fois toutes les deux semaines. « Je profite de chaque instant que j’ai », déclare Akl, qui est désormais capable de penser à des objectifs de carrière à plus long terme. Le domaine médical est l’une des options auxquelles il pense.

Discutez avec votre médecin si vous reconnaissez l’ensemble de symptômes ou consultez muscle. ca pour obtenir davantage d’informations.

Ghassan Aki

Dr. Amanda Fiander Neurologue, Maritime Neurology

Directeur de comptes stratégiques : Jessica Golyatov Gestionnaire pays : Nina Theodorlis Responsable Contenu & Production Raymond Fan Concepteur : Kylie Armishaw Éditeur Web : Karthik Talwar Stratège de contenu: Emma Yordanov Toutes les images proviennent de Getty Images, sauf mention contraire. Pour toutes demandes de renseignements, veuillez contacter ca.editorial@mediaplanet.com. Ce dossier a été créé par Mediaplanet sans l’implication de L’Actualité ni de son département éditorial.

Pourquoi est-il important de reconnaître les signes des maladies rares du sang?

Diagnostiquer une HPN peut prendre jusqu’à cinq ans. C’est la raison pour laquelle il est important que les patients et les médecins connaissent cette maladie.

Anne Papmehl

L’hémoglobinurie paroxystique nocturne (HPN) est une maladie du sang extrêmement rare et acquise causée par une mutation de certaines cellules souches de la moelle osseuse. « Les cellules sanguines subséquentes produites perdent leur protection contre une partie de notre système immunitaire connue sous le nom de complément », explique Dr. Christopher Patriquin, hématologue et clinicien-chercheur au University Health Network et professeur adjoint à l’Université de Toronto. Cela peut causer la destruction des globules rouges mais aussi l’endommagement et l’activation des plaquettes et globules blancs; le patient présente ainsi un risque accru de thrombose (caillots sanguins). « Certains patients souffrant d’HPN peuvent également souffrir d’une défaillance de la moelle osseuse, comme une anémie aplasique qui cause une réduction significative de la production de cellules sanguines », explique Dr. Patriquin.

L’HPN est généralement diagnostiquée entre 35 et 40 ans; les patients sont à l’apogée de leur carrière et de leurs responsabilités familiales. « La maladie est dévastatrice car lorsque les globules rouges sont détruits, votre fonction est atteinte », explique Cindy Anthony, Directrice Exécutive de l’Association canadienne de l’anémie aplasique et de la myélodysplasie, une association de soutien aux patients.

L’importance de reconnaître les signes et symptômes

« Non diagnostiquée, l’HPN symptomatique a un taux de mortalité de 35 % cinq-ans avec près de trois-quarts des décès causés par des thromboses », explique Dr. Loree Larratt, professeur émérite en hématologie clinique à l’Université d’Alberta. Ces graves caillots sanguins peuvent se former n’importe où dans le corps, y compris dans le cerveau, le cœur, les poumons et les reins. « Au-delà du risque de thrombose, les patients souffrant d’HPN non traités peuvent développer d’autres complications dues à la destruction de leurs globules rouges, celles-ci comprennent la fatigue, des difficultés à respirer, des douleurs abdominales, des difficultés à avaler et des lésions rénales », ajoute Dr. Patriquin.

Le diagnostic s’effectue par le biais d’une analyse du sang du patient connue sous le nom de cytométrie en flux. Mais la difficulté est

de reconnaître dès le départ que les patients sont susceptibles de souffrir d’HPN et qu’ils doivent passer un examen. « Il est important de reconnaître que le patient peut présenter des symptômes très courants comme la fatigue, l’anémie ou des thromboses; ces symptômes ont souvent d’autres explications cliniques », explique Dr. Patriquin.

Les symptômes qui peuvent justifier les examens comprennent une faible numération sanguine, certains types de défaillances de la moelle osseuse, des thromboses qui peuvent être non-provoquées ou se trouver dans un endroit atypique, des urines de couleur rouge (connue sous le nom d’hémoglobinurie), une anémie hémolytique qui ne peut être expliquée autrement.

L’espoir d’une belle vie avec l’HPN Bien qu’il n’existe aucun traitement pour l’HPN autre que la transplantation de moelle osseuse, qui est généralement réservée aux cas graves de défaillance de la moelle osseuse, les patients souffrant d’HPN peuvent avoir une vie active et bien remplie. « Tous les patients n’ont pas besoin d’un traitement au départ, mais ils devraient tout même consulter un médecin ayant de l’expertise avec l’HPN », explique Dr. Larratt.

La principale stratégie de traitement pour l’HPN consiste à protéger les globules rouges contre l’endommagement et la destruction. Depuis 2009, un inhibiteur complémentaire a été approuvé au Canada; celui-ci est administré par voie intraveineuse une fois toutes les deux semaines. Le médicament stoppe efficacement l’hémolyse, améliorant ainsi la qualité de vie et augmentant le taux de survie en réduisant le risque de thrombose pour de nombreux patients souffrant d’HPN. « Ces nouveaux traitements changent la donne », explique Mme. Anthony.

Les choses devraient s’améliorer. « La façon dont nous prendrons en charge l’HPN dans 10 ans sera certainement très différente de la façon dont nous le faisons aujourd’hui avec, espérons-le, davantage d’alternatives pour nos patients qui continuent à contrôler la maladie tout en améliorant la qualité de vie et en réduisant le fardeau du traitement », explique Dr. Patriquin. « C’est la raison pour laquelle il est essentiel que nous recevions un soutien continu pour la recherche sur l’HPN et son traitement au Canada. »

Dr. Chris Patriquin

Hématologue et clinicien-chercheur, University Health Network & Professeur adjoint, Université de Toronto

Anthony Directrice Exécutive, Association canadienne de l’anémie aplasique et de la myélodysplasie

Dr. Loree Larratt Professeur émérite en hématologie clinique, Université d’Alberta

Discutez avec votre médecin si vous reconnaissez les symptômes ou consultez aamac.ca pour obtenir davantage d’informations.

Cindy

Rare Diseases

Conquering Rare Disease — Even In the Era of COVID

The long-awaited launch of Canada’s Rare Disease Drug Strategy will help get therapies to people with rare diseases faster.

Dr. Durhane Wong-Rieger

As Canada prepares to pivot from reacting to COVID-19 as an unpredictable pandemic crisis to living with COVID-19 as a manageable influenza-like endemic, the federal government is preparing to make an equally momentous pivot in treating Canadians living with rare diseases, with the launch of Canada’s Rare Disease Drug Strategy in 2022.

The most important aspect of this initiative isn’t the government’s commitment of $1 billion to set up the program, nor is it the $500 million annual budget to sustain it. What constitutes a seismic shift is Canada’s recognition that therapies to meet the unmet needs of small and very small patient populations with severe, progressive, life-threatening, and untreated disorders demand unique customized access pathways. For over 40 years, Canada (along with most other countries) has applied to rare drugs the same criteria and tools that were designed for assessing large population drugs, many of which are nth generation incremental improvements on existing therapies with proven impacts on well-characterized conditions.

The slow pathway to gaining access

It’s no wonder that rare disease drugs were tried and found wanting. The clinical trials were too small or too short — they lacked placebo or proper control groups, relied on biomarkers rather than confirmatory outcome

measures, and yielded an incremental cost-effectiveness ratio that was highly uncertain and far above the standard cut-off. In fact, it’s surprising that any rare disease drug at all made it through this highly inappropriate gamut.

Over the years, many countries have developed assessment tools, criteria, and separate access pathways that are more flexible or specific to rare therapies. Canada chose not to follow suit. Not surprisingly, rare disease patients in Canada have lagged than those in many other developed and developing countries in gaining access to approved innovative therapies.

Progress for the rare disease community

For nearly two years, the Canadian Organization for Rare Disorders (CORD), the alliance of rare disease patient organizations, has led the multi-stakeholder consultations on the national Rare Disease Drug Strategy and gained consensus on key aspects, including vision, governance, infrastructure, operating principles, core access pathways, success factors, and the role of patients.

For CORD and the entire rare disease community, Rare Disease Day 2022 is an occasion for celebration, even as we continue the fight to beat back COVID-19, because it’s the turning point for affordable and sustainable access to the most appropriate therapies for rare diseases. We’re confident of success on both fronts.

To learn more about CORD’s initiatives in the rare disease space, visit raredisorders.ca

Strategic Account Director: Jessica Golyatov Strategic Account Manager: Madison Trajkovski Country Manager: Nina Theodorlis Content & Production Manager: Raymond Fan

Designer: Kylie Armishaw Content & Web Editor: Karthik Talwar Content Strategist: Emma Yordanov All images are from Getty Images unless otherwise credited.

This section was created by Mediaplanet and did not involve Maclean’s magazine or its editorial departments. Send all inquiries to ca.editorial@mediaplanet.com.

Dr. Durhane Wong-Rieger President & CEO, Canadian Organization for Rare Disorders

Taking Advantage of Every Moment Life Has to Offer

Living with generalized myasthenia gravis used to mean leading a very restricted life. New options are now changing that.

Anne Papmehl

When Ghassan Akl was 17, he suddenly found himself unable to lift a glass of water. As a very active teenager who worked out at the gym every day, this was unusual. His parents brought him to the hospital where his symptoms were recognized, and after a series of tests his diagnosis was confirmed.

That diagnosis was generalized myasthenia gravis (gMG), an autoimmune neuromuscular disorder in which the immune system mistakenly produces antibodies that block receptors in the neuromuscular junction — the area where nerve cells connect with the muscles.

A gradual loss of independence Hallmark signs and symptoms of this rare disease involve fluctuating weakness of the voluntary muscles. “Many different muscle groups may be implicated, resulting in various patterns of weakness,” says Dr. Amanda Fiander, a neurologist at a private clinic called Maritime Neurology in Halifax, N.S. “In addition to arm or leg weakness, possible symptoms may include double or blurred vision, drooping eyelids, slurred speech, difficulty chewing or swallowing, and shortness of breath.”

Akl had most of these classic gMG symptoms. Over the next 11 years, he became increasingly dependent on family members to help him with simple things like going up the

stairs. During this time, he underwent conventional immunotherapy treatment, which involved going to the hospital twice a week from 8:30 a.m. to 3:00 p.m. Eventually, as the disease progressed and became more aggressive, he had to stop working and going to school.

Treatment for gMG has remained pretty much the same for the past 50 or 60 years. However, new treatment options are allowing for more effective disease management and an overall improvement in the quality of life for Canadians living with gMG. Since starting on one of them two years ago, Akl has become a different person. “I’m able to train at the gym, run, and be independent again,” says Akl, now 30. He’s currently training to become a barber and recently returned to school.

The importance of recognizing signs and symptoms

Luckily for Akl, because the emergency room nurse recognized gMG, he was put on the right diagnostic track and into treatment very quickly. “Recognition of the disease is essential as gMG can lead to significant disability,” says Dr. Fiander. That can sometimes be tricky since some gMG symptoms may overlap with other neurological disorders or even non-neurologic medical conditions.

In addition to a correct diagnosis, it’s critical that people living with gMG have

regular assessments from their health care providers (HCPs) to monitor their disease, something that, according to his situation, Akl does once a year with his doctor. “Given the fluctuating nature of the disease, regular HCP assessments are important to ensure that the treatment approach is both effective and appropriate for the particular individual,” says Dr. Fiander. “Disease symptoms may change over time — and can sometimes do so quickly, requiring a change or adjustment in medication. These adjustments are best made early on, to avoid crisis.”

For Akl, life keeps getting better and better. No longer confined to spending more than 12 hours a week in the hospital, his new regimen requires only a halfhour hospital visit every two weeks. “I’m taking advantage of every moment I have,” says Akl, who is now able to think about longer-term career goals. The medical field is one of the options he’s considering.

Talk to your doctor if you recognize the set of symptoms or to learn more visit muscle.ca

Thisarticlewasmadepossiblewithunrestrictedsupportfrom Alexion Pharma Canada.

Ghassan Akl

PHOTO COURTESY OF GHASSAN AKL

Dr. Amanda Fiander Neurologist, Maritime Neurology

Why It’s Important to Recognize Signs of Rare Blood Disease

The road to a PNH diagnosis can take up to five years. That’s why awareness is critical for both patients and physicians.

Anne Papmehl

Paroxysmal nocturnal hemoglobinuria (PNH) is an ultra-rare and acquired blood disease caused by a mutation in some of the bone marrow stem cells. “The subsequent blood cells produced lose their protection against a part of our immune system called complement,” says Dr. Christopher Patriquin, a hematologist and Clinician Investigator at the University Health Network and Assistant Professor of Medicine at the University of Toronto. This can lead to the destruction of the red blood cells, as well as damage, and activation of the platelets and white blood cells, which puts the patient at increased risk of thrombosis (blood clots). “Some patients with PNH may also have bone marrow failure, such as aplastic anemia, where blood cell production is significantly reduced,” says Dr. Patriquin.

The median age for PNH diagnosis is between the ages of 35 and 40 — people in the prime of their career and family responsibilities. “It’s devastating because when your red blood cells are being destroyed, you’re not really able to function properly,” says Cindy Anthony, Executive Director of the Aplastic Anemia and Myelodysplasia Association of Canada, a patient support organization.

The importance of recognizing signs and symptoms “Undiagnosed, symptomatic PNH has a 35 percent five-year mortality rate with up to two thirds of deaths being due to thrombosis,” says Dr. Loree Larratt, Professor Emeritus in Clinical Hematology at the University of Alberta. These severe blood clots can form virtually anywhere throughout the body, including the brain, heart, lungs, and kidneys. “Beyond the risk of thrombosis, untreated patients with PNH may develop many other complications from the continual breakdown of their red blood cells, such as fatigue, shortness of breath, abdominal pain, difficulty swallowing, and kidney damage,” adds Dr. Patriquin.

Diagnosis is made by a test of the patient’s blood called flow cytometry. But the challenge is recognizing that patients may have PNH to begin with and need to be tested. “It’s important to recognize that the patient may present with some very common symptoms such as fatigue, anemia, or thrombosis, for which there are often other clinical explanations,” says Dr. Patriquin.

Symptoms that may warrant testing include unexplained low blood counts, some types of bone marrow failure, thrombosis that may be unprovoked or presenting in an atypical location, red-coloured urine (called hemoglobinuria), and hemolytic anemia that is not otherwise explained.

Hope for living well with PNH

While there’s no cure for PNH other than a bone marrow transplant, which is usually reserved for severe cases of bone marrow failure, it’s possible for people with PNH to live full and active lives. “Not all patients initially require therapy, but they should still be seen by a physician with expertise in PNH,” says Dr. Larratt.

The core treatment strategy for PNH is to protect red blood cells from damage and destruction. Since 2009, a complement inhibitor has been approved in Canada, which is administered by intravenous infusion every other week. The medication effectively stops the hemolysis, thus improving the quality of life and increasing survival by reducing the risk for thrombosis for many PNH patients. “These new treatments have been a game-changer for sure,” says Anthony.

Things are expected to get even better. “How we manage PNH 10 years from now will likely be quite different from how things are done today, with hopefully more options for our patients that continue to control the disease while also improving quality of life and reducing the treatment burden,” says Dr. Patriquin. “That’s why it’s imperative that there is continued support in Canada for research into PNH and its treatment.”

Dr. Chris Patriquin Hematologist, Clinician Investigator, University Health Network & Assistant Professor of Medicine, University of Toronto

Cindy Anthony Executive Director, Aplastic Anemia & Myelodysplasia Association of Canada (AAMAC)

Dr. Loree Larratt MD & Professor Emeritus, Clinical Hematology, University of Alberta

Talk to your doctor if you recognize the symptoms or learn more by visiting aamac.ca.

Thisarticlewasmadepossiblewithunrestrictedsupportfrom Alexion Pharma Canada.

It’s important to recognize that the patient may present with some very common symptoms such as fatigue, anemia, or thrombosis for which there are often other clinical explanations.

New Father with Rare Disease Works Hard to Access Potentially Life-changing Treatment

When you live with a progressive neuromuscular disease like spinal muscular atrophy (SMA), timely access to treatment is critical to retaining strength and ability.

Jared Wayland and Sydney Dick of St. Catharines, Ont. have been looking forward to the birth of their first baby, who entered the world in early January. Their hopes and dreams are typical of many firsttime parents — that their child grow up to be happy, healthy, and loved.

But Jared and Sydney are not typical parents. Jared, 33, lives with SMA, a rare, genetic neuromuscular disease that has already robbed him of his ability to walk and continues to make him weaker with each passing day. SMA is characterized by loss of motor neurons in the spinal cord and lower brain stem, resulting in severe, progressive muscle atrophy and functional decline.

“I’m determined to live my life to the fullest, but the future is always uncertain for me and my family because of my SMA,” Jared says. “Sydney and I will have the same types of struggles as any other new parents, but sometimes I wonder, ‘will I even have the strength to hold my child a few years from now?’”

Simple day-to-day tasks a huge challenge Jared lives with Type 3 SMA, a later-onset form of the disease. Prior to his diagnosis 20 years ago he was an active teenager, participating in hockey, baseball, swimming, and golf. But Jared began to notice it was getting harder to get up after falling and he was tripping a lot. “One day I was holding something, and my parents noticed my hands were shaking,” he says. A trip to the family doctor led to several neurologist visits and an eventual SMA diagnosis.

Although treatment for SMA was non-existent throughout his adolescence and

early adulthood, therapies have since been approved in Canada. However, many adult patients, including Jared, are still waiting for access. With the exception of Quebec, where treatment is available for all adults, most provincial reimbursement guidelines permit access in exceptional situations, evaluated on a case-by-case basis.

An application for treatment reimbursement was made for Jared by his physician in August 2019. More than two years later it continues to be under evaluation, its outcome elusive and far from certain — a reality shared by the majority of adult patients outside Quebec who apply for access. Meanwhile precious time and muscle have been lost and Jared’s condition continues to decline. He now relies on a power wheelchair almost exclusively for mobility and counts on Sydney to help him with much of his care, from getting up in the morning to bathing and dressing.

“Treating my SMA as soon as possible is critical to ensuring I can help care for my child and be the father I’ve always dreamed of being. We know it’s a time-sensitive issue and that my SMA will continue to progress. Now with the baby here it only expedites the need,” says Jared. “Just being able to maintain what I still have would be great, but if I could go back to the level of ability I had just two years ago, that would be a big plus.”

Staying optimistic amid challenges and advocating for others

As Sydney’s due date approached, her ability to physically support Jared became increasingly limited. To provide support to his family, Jared invested in costly lifts that increase his independence and help him fulfill his caregiving goals. With the baby now here, the couple will face similar struggles as all new parents do, as well as change their care dynamic as attention shifts more to their child’s needs. “Fortunately, we have both sets of parents and siblings nearby to help, but we’re still figuring how things will play out. Access to treatment for Jared would be one less thing for us to worry about,” says Sydney.

Despite his challenges, Jared is optimistic and counts his blessings. He is excited to be a new father and says he is committed to raising his child in a home that sets an example for inclusiveness and understanding. He continues to have the use of his hands and is currently able to earn a successful living as a graphic designer. Over the past five years, Jared has also been cultivating a positive mindset and advocating for treatment access for all adults. “As important as this is to us, it’s a much wider issue. There are so many people out there who could benefit from treatment, and anything I can do to help is what I want to do,” he says.

If you or a loved one is living with SMA, please visit facebook.com/smashingbarriers.ca

Thisarticlewasmadepossiblewithsupportfromaresearch-basedpharmaceuticalcompany.

Anne Papmehl

Jared Wayland and his fiancée, Sydney Dick

PHOTO COURTESY OF JARED WAYLAND