National conversation on rare diseases

The Minister for rare disease at the Department of Health and Social Care, Baroness Blackwood, recently announced a national conversation to understand how we can better care for people living with rare disease.

This survey aims to identify the major challenges faced by rare disease patients and the people and organisations that care for them. The themes identified in the survey will feed into a framework to follow the current UK Strategy on Rare Diseases, which runs until the end of 2020.

The survey is seeking input from the rare disease community across the UK, including patients, families and carers, rare disease medical professionals and GPs, clinical academics and industry experts.

You must be living currently in the UK and over 16 years to take part in the survey. If you are under 16 years and are living with a rare disease, please ask a family member or carer to fill in the survey for you.  For further information see below.

The deadline for responses is Friday 29 November 2019.

The importance of genetic testing

This article first appeared in The Information Point newsletter Our World in 2012 when Sarah Foye with contributions by Dr. Alan Beggs and Lindsay Swanson, MS, CGC told us about the importance of genetic testing.

The centronuclear myopathies (CNMs) are a group of rare inherited muscle disorders that are caused by genetic changes in any one of several different genes. CNMs are considered to be an inherited group of disorders, meaning that the genetic change can be passed from parent to child. However, there are rare cases where neither parent is found to share the genetic change, meaning that the child has a new or ‘sporadic’ mutation.

In any case of muscle disorder, families are often left wondering, where did this come from, what caused this problem, what are the risks for other family members? For many families the answers to these questions can be found by testing the affected individual for the genetic mutations known to cause CNM.

Diagnosing a muscle disorder like CNM is usually made by reviewing a person’s symptoms and their family medical history and by having a physical examination by a doctor who is often a specialist. Once a doctor suspects a muscle disorder, they will often do further testing like a blood test, a nerve test, or a muscle biopsy.

During a muscle biopsy, a small portion of muscle is removed and examined closely. Different muscle disorders often have a unique appearance under a microscope. Examining the features of the muscle helps doctors to diagnose a specific muscle disorder. The muscle biopsy is considered the gold standard method of diagnosing CNM today. However, there are limitations to this method. Unfortunately, there are many problems with diagnosing CNM by muscle biopsy. Certain features of a muscle biopsy may be ambiguous or misleading because these findings may be present in many different forms of muscle disease. For example, centrally located nuclei can be present in myotubular myopathy but also with muscular dystrophy, myotonic dystrophy and many other muscle disorders.

Although there are difficulties with muscle biopsies, the discovery of new genes and the invention of new gene-testing technologies have opened new doors for diagnosing CNM and other related muscle disorders. Testing for genetic mutations known to cause CNM is one way of answering families’ questions as well as confirming a diagnosis. The genes known to be associated with CNM include the following: MTM1, DNM2, BIN1 and RYR1. Once a doctor suspects that a person has CNM, they can send a sample of DNA to test for one of these known genes.

Genetic testing can be arranged by a pediatrician, primary doctor, or a doctor specializing in genetics (geneticist). Because genetic testing for CNM can be complex, families with CNM may want to consider seeing a geneticist along with a genetic counselor when pursing a genetic diagnosis. Further information on how to arrange genetic testing can be found on the genetic testing pages of the Information Point website.

Why bother with genetic testing?

There are many benefits to pursing a genetic diagnosis. We already touched on how genetic testing can confirm a specific diagnosis. Some other benefits include:

Family planning

Knowing the genetic diagnosis can help people to understand how the disorder is passed within a family. It can also inform people about the risks of having an affected child. This information can help people make decisions about having children and can provide health risks for family members.

Medical problems

Identifying the specific gene can help to predict medical problems that may be associated with the gene. For example, liver problems can be associated with mutations in the MTM1 gene and malignant hypothermia can be associated with RYR1 mutations. By knowing that there are risks for certain medical problems, patients and their doctors can decide together what type of monitoring, treatments, or preventative actions they may need.

Research

As clinical trials get underway for CNM, researchers will want to enroll people in research based on their genetic diagnosis. Thus, genetic confirmation may be a condition to participate in future research.

Treatment

Knowing the specific gene mutation can help doctors and scientists to understand the specific cause of the disorder in the body. By identifying the specific mechanism which is causing the deficit, it can help to target potential treatments.

Please keep in mind that genetic test results can sometimes be surprising, upsetting, and lead to more questions. Please work with your healthcare professionals and genetic counselors to guide you through this process. If you might be interested in learning more about whole exome sequencing for your rare or unknown condition, please contact the Manton Center for Orphan Disease Research at Boston Children’s Hospital or contact Meghan Connolly by email or by telephone one 617-919-4287.

Rare Disease Day 2013

This article first appeared in The Information Point newsletter Our World in 2013. This year marked the sixth Rare Disease Day with 71 countries from around the world helping to raise public and political awareness of the issues faced by the rare disease community and to. The Ward and Whiston families wrote about what they did to mark Rare Disease Day 2013.

The Ward family: Erin, Mark and Will

Rare Disease Day this year took place on 28 February which also happened to be Will’s 12th birthday. Wanting to raise funds for the 2013 US MTM-CNM Family Conference, we approached Will’s sixth grade teachers, along with school administration, about hosting an ‘I Wear Jeans For Rare Jeans Day’.

Often schools will host ‘jeans days’ as a day when school staff are allowed to wear jeans if they give a donation for a certain cause they are raising funds for in a given month and Will’s amazing school team happily agreed to our request.

Along with asking Will’s school staff to participate, we also invited family and friends to join in as well. Altogether, we were able to raise $752.00 on Rare Disease Day and in honor of Will’s 12th Birthday for the 2013 US MTM-CNM Family Conference and we would like to thank everyone who participated in making our ‘I Wear Jeans for Rare Genes’ a success.

For further information about hosting a ‘Wear Jeans for Genes’ fundraiser at your school or workplace for the US Family Conference contact Mark and Erin. If you would like to make a direct donation visit the conference Firstgiving donations page.

The Whiston family: Melanie, Daniel, Will and Juliet

Our foundation for myotublar myopathy, Where There’s A Will There’s A Cure, held its first annual awareness event ‘Blue for the Cure – Rare Disease Day 2013’. We asked our friends, family and supporters to wear blue and post pictures on our facebook event page to help raise awareness for Rare Disease Day and myotubular myopathy.

The event was a huge success and it tuned out to be a really fun day. We are thrilled with the support we received and are excited about Blue for the Cure – Rare Disease Day 2014.

Rare Disease Day 2016

This article first appeared in The Information Point newsletter Our World in 2016. This was the ninth Rare Disease Day and it took place on the rarest of days, 29 February 2016.

The Rare Disease Day 2016 theme was ‘Patient Voice’ and recognised the crucial role that patients play in voicing their needs and in instigating change that improves their lives and the lives of their families and carers.

Patients and patient advocates use their voice to bring about change that ensures that politicians continuously and increasingly acknowledge rare diseases as a public health policy priority at both national and international levels; increases and improves rare disease research and orphan drug development; achieves equal access to quality treatment and care at local, national and European levels, as well as earlier and better diagnosis of rare diseases; supports the development and implementation of national plans and policies for rare diseases and helps to reduce isolation sometimes felt by people living with a rare disease and their families.

This year the US charity Where There’s a Will There’s a Cure once again held their Blue for the Cure Facebook event to mark Rare Disease Day and raise awareness of centronuclear and myotubular myopathy by asking people to wear the colour blue and post a photo on Facebook. Melanie Whiston told The Information Point: ‘Each year it is overwhelming to see how many people support the CNM-MTM community. We want to thank everyone for showing the families and community that we are not alone in this journey’.

Neil who works as a volunteer at his local Multiple Sclerosis centre in the UK went to work in blue and his colleague Amanda wore blue to support him. Twins Lilly and Cooper, aged six from Ohio wore blue for Cooper who has x-linked myotubular myopathy (Lilly wore some pink too) and Jackie, also from Ohio wore blue to raise awareness of centronuclear myopathy, the condition with which she is diagnosed.

Rebekah from Oklahoma wore blue for sons Lane and Christian. Sharon wore blue to support her grandson Kmoney, while Marie from New York went for a run in blue with her husband across the Bronx river. Lori and her family from New Jersey wore blue to support Beau who has MTM, as did many of their friends and family. Anne and Mel from the Myotubular Trust in the UK also wore blue.

Rare Disease Day 2015

This article first appeared in Our World, The Information Point newsletter in 2015. This year marked marked the eighth consecutive Rare Disease Day and the theme was ‘Living with a Rare Disease – day-by-day, hand-by-hand’. It aimed to put the focus on the daily lives of patients, families and caregivers who are living with a rare disease.

With over 6,000 different rare diseases having been identified at this time, directly affecting the daily life of more than 30 million people in Europe alone, the complex nature of rare diseases, coupled with limited access to treatment and services, means that family members are often the primary source of solidarity, support and care for their loved ones.

The Rare Disease Day 2015 theme paid tribute to the millions and millions of parents, siblings, grandparents, spouses, aunts, uncles, cousins, and friends whose daily lives are impacted and who are living day-by-day, hand-in-hand with rare disease patients.

This year the centronuclear and myotubular myopathy community once again supported Rare Disease Day, showing their support on social media by wearing jeans and the colour blue and taking part in events which you can read more about in this newsletter.

US charity Where There’s a Will There’s a Cure once again held their Blue for the Cure Facebook event in February to Mark Rare Disease Day. Melanie Whiston told The Information Point: ‘This year we had 123 pictures posted to our event page. We were so excited to see the participation from around the world and encourage everyone to be Blue for the Cure 2016’.

Jackie Smith from Cleveland, Ohio told The Information Point ‘I was born with centronuclear myopathy in 1979. I had severe weakness throughout my whole body and did not hit milestones like other children. I was diagnosed when I was three years old by muscle biopsy. I wore blue to support research for CNM/MTM and my daughters Makayla and Emily wore blue with me’.

Debbie Madsden Maughan from West Haven, Utah said ‘Our picture was taken on our way out to an adaptive playground designed for handicapped kids. We were hoping people would notice us wearing blue so we could tell them why and the importance finding a cure. We were not disappointed as many people stopped to talk to Kash and we indeed spread the word’.

Josette Sirmon said ‘My nephew, Benjamin Sirmon, passed away on February 23, 2015. He had CNM. His funeral was on 27 February, one day before Blue for a Cure. I am an assistant principal at an elementary school. The people in my photos were teachers, students, administrators and staff at my school and other schools in the district honoring Benjamin and supporting me by wearing blue. It meant the world to me to feel surrounded by their love on the day we laid Benjamin to rest’.

The CMDIR Team of Nas, Eli, Anne, Janet, Scott, Sabine, and Rachelin California all wore blue to support Where There’s a Will There’s a Cure – the organisation are affiliated with the Congenital Muscle Disease International Registry (CMDIR) and their mother organisation is CureCMD. Audentes, the organisation who are developing a gene therapy treatment for X Linked myotubular myopathy also marked the day with a team picture at their office in San Fransisco.

 

Rare Disease Day 2014

This article first appeared in The Information Point newsletter Our World in 2014 when the centronuclear and myotubular myopathy community supported Rare Disease Day in a big way, showing their support on social media and by wearing blue and denim.

Erin Ward told the Information Point: ‘This year for Rare Disease Day, we encouraged our family and friends to again ‘Wear Jeans for Rare Genes’ to help raise awareness of rare diseases. We are so proud of our Will for living bravely with MTM everyday, especially on rare disease day this year, February 28th, as he turned 13. In our photo Mark and I are also wearing our MTM awareness shirts from our zazzle store for the US conference’.

Maggie Mae told the Information Point: ‘Our son Lincoln had a GI appt on Rare Disease Day so we made tshirts and proudly wore them out and about. He just turned three months old.’

And Melanie and Daniel Whiston, founders of Where There’s a Will There’s a Cure ran a Facebook event to encourage people to show support for people with rare diseases and to wear blue to raise awareness for myotubular myopathy.

Thiago Kimberly

Rare Disease Day

The centronuclear and myotubular myopathy community has taken part in Rare Disease Day for a number of years.  On this and the pages below you can read about the event.

Rare Disease Day takes place annually on the last day of February and aims to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.

The campaign targets primarily the general public but it is also designed for patients and patient representatives, as well as politicians, public authorities, policymakers, researchers, health professionals and anyone who has an interest in rare diseases.

Since the first Rare Disease Day in 2008, thousands of events have taken place throughout the world reaching hundreds of thousands of people and over 80 countries now participate. The political momentum resulting from the day has also served for advocacy purposes, most notably the advancement of plans and policies for rare diseases in a number of countries.