A desire to create awareness of an extremely rare genetic condition has prompted Bealnamulla resident Rosie Barry to speak publicly about her son Lorcan’s diagnosis with Marbach-Schaaf Neurodevelopmental Syndrome (MASNS).

Rosie shared her story with a local news outlet in advance of Rare Disease Day, which occurs on the last day of February. In a leap year, the global initiative is acknowledged on February 29, the rarest day of the year.

Marbach-Schaaf Neurodevelopmental Syndrome is characterized by developmental delays, speech delays, and movement disorders. Sleep is impacted, and affected individuals may also exhibit autism spectrum disorder and ADHD. Lorcan, now 3, was diagnosed in March 2024, making him one of only 34 individuals worldwide with this rare genetic condition.

Lorcan was born five weeks prematurely and at the age of six months, my partner Matthew and I were made aware that he had not met the relevant developmental traits at this stage of his growth. He was not developing physically and was unable to speak. While he managed some words in time, he soon relapsed into a state of being unable to convey his words, Rosie said.

As Lorcan approached nine months, his health concerns escalated further. It was at this stage that the need became more urgent to seek expert medical opinion and having liaised regularly with our GP and the medical area officer, we then sought the view of a specialist neurologist to ascertain a diagnosis for Lorcan. Post initial genetic testing there was still no medical clarity on Lorcan’s condition so our health fears remained ongoing, Rosie explained.

Eventually, Lorcan was diagnosed with MASNS by a specialist neurologist in Dublin. While the news was difficult to digest, a diagnosis was welcome. While the news was obviously quite upsetting and very hard to hear, Lorcan now has a clear diagnosis, Rosie said.

One of the characteristics associated with MASNS is autism, a condition that affects approximately 1 in 44 children in the United States, according to the Centers for Disease Control and Prevention (CDC). Three of Rosie’s children now have the condition, highlighting the profound impact of rare genetic disorders on families.

Although he may be progressing in certain aspects of his life, as parents we are in the complete unknown. Unfortunately, we are unaware as to what the future holds for Lorcan and as to how his health will be in five or ten years. It is quite common that there can be health regression following a period of progression with this condition, Rosie stated.

Lorcan requires continuous care and attends physiotherapy, speech therapy, and occupational therapy sessions to assist with his condition. The care and attention required for Lorcan is continuous and thankfully, my partner and I are in a position to provide such support at home. Lorcan also attends St. Teresa’s Special School in Ballinasloe where he receives great care, Rosie said.

Rosie praised the work of the Rare Ireland support group, which has provided subsidies for Lorcan’s therapies. For this financial support we are most grateful. Rare Ireland has also enabled us to reach out and speak with families who are impacted by rare diseases, allowing my partner and I to share our thoughts and concerns with them. To have the opportunity to share such conversations is beneficial and to that end, we appreciate the work which Rare Ireland continues to do, Rosie concluded.

Rare Disease Day serves as a platform to advocate for research, better healthcare access, and improved social support networks for people living with rare diseases and their families. Through increased awareness and understanding, the hope is to create a more inclusive and supportive environment for the rare disease community.

In a show of solidarity and to create public awareness, Rare Ireland has organized for several landmarks, including the white bridge, the footbridge, and St. Peter’s Church, to be illuminated in the rare disease colors on Friday. This initiative aims to raise awareness and foster a sense of community among those affected by rare diseases.