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.
At the SMA Community Gathering, left to right, back row: Dympna Mulroy, Olivia, Marianne Dwyer, Tatjana Ivanova, Maeve Healy, Lillya Khatsevyc, Seamus Fox; middle row: Emer O’Sullivan, Kateryna Kosianchuk, Yurii Kosianchuk, Jonathan O’Grady and Sofiya Khatsevyc; front row: Aoife McNicholl, Naglis Montvilas and Artjom Ivanovs.
The afternoon consisted of a lovely lunch, listening to informative and inspiring presentations, and meeting and forming connections with others.
Thank you to Marianne Dwyer for providing a space to slow down and connect with our inner self, Niamh Gartland for sharing practical tips on maintaining physical wellbeing, Aoife Mc Nicholl, and Emer O Sullivan for sharing their journeys with SMA and pieces of advice based on their experiences. They are both SMAshing life! Jonathan O Grady discussed an upcoming campaign for access to treatment for adults with SMA and we had a good discussion on the use of aids and devices individuals use. Thank you to everyone who came, your engagement truly made the event a success.
While the adults got time to mix and mingle and listen to the speakers the young people had fun at Junior Einsteins Science Club and Lego robotics workshops.
Below are a selection of photos and testimonials from the day which truly reflect the value of this event.
“After this event I feel incredibly supported, optimistic and motivated! Thank you!”
“Good speakers, chance to chat to everyone and relaxed welcoming atmosphere”
“I liked the opportunity to share experiences with others with SMA”
Left to right: Artjom Ivanovs, Naglis Montvilas, Maeve Healy, Emer O’Sullivan, Tatjana Ivanova and Marianne Dwyer.
“Really enjoyable day out in Mullingar. Nice to meet some old faces and others in person. ...Hopefully it will become a regular event”
Back row, left to right: Yurii Kosianchuk and Dympna Mulroy; front row, left to right: Katernya Kosianchuk and Aoife McNicholl.
“I liked the friendly atmosphere at the event and the team of professionals who shared a lot of useful information. The organisers paid attention to all participants”.”
Facts on SMA
SMA is a genetic neuromuscular condition that progressively weakens the muscles and can lead to problems with walking, swallowing, and breathing.
The faulty gene responsible for most SMA cases is the SMN1 gene. This gene provides instructions to produce a protein called survival motor neuron, or SMN.
In SMA, the lack of SMN protein — due to mutations in the SMN1 gene — causes the degeneration of nerve cells in the spinal cord (motoneurons), which control movement.There are five types of SMA — 0, 1, 2, 3, and 4 — with types 0 and 1 being the most severe and type 4 the mildest. Type 0 is rare, and its symptoms typically manifest before birth. Types 1 to 3 develop in childhood, and type 4 SMA develops in adulthood.
In addition to the five main types of SMA, there are also other rarer forms caused by different underlying genetic mutations. These include X-linked infantile SMA; SMA with respiratory distress type 1 (SMARD1); SMA with lower extremity predominance (SMA-LED); SMA with progressive myoclonic epilepsy; Finkel type SMA (SMAFK); spinal and bulbar muscular atrophy (SBMA), also called Kennedy’s disease; and distal spinal muscular atrophy (DSMA).
Three approved treatments are available in Ireland for people with SMA: Zolgensma, Spinraza and Evrysdi. They are strict restrictions around access to these therapies, including age. To date none of these therapies in Ireland are funded for adults.
SMA was recently approved for inclusion in Ireland’s Newborn Screening ’heel prick’ Programme and implementation is estimated to begin at the end of this year.