August is Spinal Muscular Atrophy (SMA) Awareness Month: Educate, Support, Research
Spinal muscular atrophy (SMA) is a genetic condition that affects the motor neurons, causing progressive muscle weakness and wasting (atrophy). SMA is also called 5q SMA. This is because, in most cases, SMA is caused by a change in the SMN1 gene located on chromosome 5 (5q). 5q SMA has traditionally been classified into type 1, 2, 3, and 4, based on when symptoms appear and how severe they are. Type 0 is a rare and very severe form with symptoms developing before birth. SMA can be diagnosed through genetic testing in pre-symptomatic stages.
Unfinished Business: Equal Access to Treatments for SMA Adults!
We continue to shine a light on the unfair exclusion of approximately 20 adults living in Ireland from accessing approved, lifesaving SMA treatments. Despite overwhelming public support and backing from numerous TDs, senators and healthcare professionals, these individuals are still being denied treatment simply because they were over 18 at the time of the original HSE approval.
August is Spinal Muscular Atrophy (SMA) Awareness Month!
Spinal muscular atrophy (S.M.A.) is a rare neuromuscular condition that causes motor neuron loss and gradual muscle wastage. It is typically identified in infancy or early childhood, and if ignored, it is the leading hereditary cause of infant death. It may sometimes occur later in life, resulting in a milder version of the disease.
Campaign update: Equal access to treatments for SMA adults
There is still work to be done, and we are asking for further support in keeping the pressure on your representatives until every adult living with SMA has equal access to these life-changing treatments. Please visit the link in article and ask your TD for their continued support in overturning this restriction.
Help us keep the pressure on for access to treatments for SMA adults!
Can you please help us keep the pressure on until adults with spinal muscular atrophy (SMA) get equal access to the treatments they need? We urge you to contact your local TDs and senators, expressing the need for their continued support until this injustice is rectified. Time matters. Every week that passes without action is a week in which individuals continue to experience serious progression of this condition.
Medical Independent: New molecular technology required for SCID and SMA screening – HSE
The introduction of new molecular technology to the National Newborn Bloodspot Screening Laboratory (NNBSL) is required to implement screening for severe combined immunodeficiency (SCID) and spinal muscular atrophy (SMA), according to the HSE. The Executive indicated this was an additional requirement to the “substantial” body of work required to introduce any new condition to the programme.
Spotlight on members of our community living with neuromuscular conditions: Emer O’Sullivan
Over the coming months we’re sharing spotlights on individual members of our community who are living with a variety of neuromuscular conditions. We began on Rare Disease Day, 29 February, to draw attention to the fact that rare disease isn’t just for one day. By sharing individual stories and information on their conditions, we want to raise awareness about the many neuromuscular conditions experienced by the diverse members of our community to whom MDI offers support. Special thanks to Emer O’Sullivan for sharing her story and raising awareness about spinal muscular atrophy (SMA).
Highlights from the SMA event hosted by MDI and SMA Ireland
MDI in collaboration with SMA Ireland held an event for people with SMA and their families in Mullingar Park Hotel on Tuesday 20 August. This event was kindly supported by an independent grant from Roche, who had no editorial influence over the content.
Last chance to book your place – SMA Community Gathering.
A wee reminder of the closing dates to book your place for our summer Spinal Muscular Atrophy (SMA) Community Gathering which takes place on Tuesday 20 August at the Mullingar Park Hotel: Monday 5 August is the final day for young people to book a place Tuesday 13 August is the final day for adults to book a place( Bookings for under 5s are now closed).
Round Up On Research Developments By Condition
Neuromuscular conditions can be difficult to diagnose and manage, so research is vital for families and for quality of life. In this issue, we include a round-up of some research developments that have taken place in recent months
Newborn babies to be tested for Spinal Muscular Atrophy from next year – a victory for our community!
We are really pleased to share the good news that Spinal Muscular Atrophy (SMA) has been approved for inclusion in Ireland's National Newborn Bloodspot Screening Programme, commonly known as the heel prick test. Approval of SMA is a massive milestone for the community and overall progress of newborn screening in Ireland. It is particularly valuable because new treatments have become available for SMA in recent years with the potential to significantly improve outcomes through earlier diagnosis and treatment.