In a time when the world seems consumed by the Covid-19 pandemic, it can be easy to forget there are other conditions with which people are living. This week the Galway Advertiser spoke to Amanda O’Malley about her family’s fundraising campaign Le Chéile do Molli - Let’s get Molli Moving for daughter Molli who suffers from the rare spinal muscular atrophy (SMA ) Type 1.
At first glance, Molli de Búrca is like any other one and half-year-old. Happy, bright, inquisitive, full of mischief with a glint in her big blue eyes, she became the fourth member of the family which included mum, Amanda O’Malley, dad, Michael Burke, and older sister, Shayna when she born in November 2018.
“Our Molli was born on Sunday November 25 2018,” says Amanda. “She rushed into the world a healthy 7lbs 6oz and we instantly besotted with her. We could not wait for her to meet her big sister.”
However, Molli’s and her parents’ lives were soon to change in June 2019 when her parents decided to take her to University Hospital Galway’s (UHG ) A&E after noticing purple blood spots on their daughter’s legs.
Amanda says; “Last June we presented to A&E. She was not in any way ill but we were told to get her seen. A few weeks previous we had brought Molli to the paediatric clinic to have her hips checked as her public health nurse had questioned a possible click. Luckily we saw the same doctor in A&E.
“He asked if Molli had started to roll onto her side or had she started to sit up on her. She had rolled once before but it was a once off. It was then that the testing and worry began, we instantly knew something quite serious was going on with Molli.”
‘Our world as we knew it, had changed forever’
After a number of tests including MRIs, cranial scans, an ECG scan as well as blood and genetic testing of Molli’s DNA and speaking with Professor Nicky Allen who proposed it might have been SMA, the family were told they might have to wait an agonising six weeks to find out the results. Unfortunately, their worst fears came to pass as later that June, the crushing news was delivered that Molli was suffering from Type 1 SMA.
Amanda reveals; “Our world as we knew it, had changed forever and nothing would ever be the same. We had so many plans and hopes for our future together as a new family of four and in that moment, on that Thursday morning in June, they were shattered into a million pieces. We would never be the same again.”
A very rare genetic condition which robs people of the the ability to walk, eat, or breathe, SMA is caused by a mutation in the survival motor gene 1 (SMN1 ) and is the number one genetic cause of death for infants. Amanda explains; “Molli has a mutation of the SMN1 gene that provides the instruction to make a protein called SMN. This protein is essential for the survival of the motor neuron. The severity of the disease is determined by the number of copies of a second gene SMN2 from which some SMN protein can be made. Molli has three copies.”
The diagnosis means Amanda and Michael must follow a strict regime in order to keep Molli as healthy as possible including regular medical appointments in Galway and Dublin. And to maintain Molli’s schedule, the family has had to make a number of sacrifices along the way.
“Since Molli’s diagnosis we have had to make a lot of sacrifices,” says Amanda. “I for one could not go back to my full time job which financially was hard but it was the right decision to make as Molli’s needs were so demanding I could not put that pressure on anyone else. Molli could have three to five appointments every week, we might have to drive an hour and a half each way. It does take its toll but they are all working and Molli has come a long way since last year. [Fortunately], Michael is still working. Shayna, Molli’s older sister, [has] been very supportive and understanding towards [Michael and me] with Molli’s situation. There is a 10 year age gap between them both but it does not stand between them. They are a joy to watch together.
“Molli has a lot of different needs. She has no strength in her legs and has no muscle tone in them, she cannot bear any weight on her feet. She wears leg splints (AFOs ) daily and has a specific pair to wear at night time while she sleeps.
“Molli had lost a lot of her strength with her swallow and her breathing [and] because of this she aspirates. She is on a tailored diet to help with this. She cannot have mixed consistency foods and needs to have her fluids thickened to Grade 2. She needs to sit upright in her Lecky feeding chair as she can aspirate so easily.
“Molli sleeps well at night. She has always been a great sleeper but she needs to be turned regularly during the night from side to side as she does not have the ability herself. Molli cannot stand and will never walk so she needs daily physio that I would do with her at home and needs daily stretches done with her muscles so they will not spasm.
“We have regular appointments with her doctors. She is under the care of Professor Allen, Dr Lyons, and the respiratory consultant, Dr Herzig in UHG. She is also under the care of Dr Declan O’Rourke in Temple Street Children’s Hospital in Dublin. It is Dr O’Rourke who administers Molli’s treatment. It involves a lumbar puncture procedure every four months. Her treatment is called Spinraza and although it is not a cure, it is saving her life and prolonging it. We travel up to Dublin the night before and can travel home an hour or two after her procedure.
“We have regular physio appointments through our local Early Intervention Services. Patty is our physiotherapist and Molli adores her. She is more than helpful to us and has helped us so much through this past year. We are so grateful to have her. We also see her speech and language therapist and her dietician regularly due to her swallow issues and we attend hydrotherapy in Enable Ireland. Molli loves the pool.”
Le Chéile do Molli
Fortunately for Molli and her family, they have a strong and supportive extended family network as well as the generosity of the local community. Having set up a Go Fund Me page to help raise funds for mobility aids for Molli on Tuesday April 21, more than €33,500 has been donated (at the time of writing ), having set at target of €50,000.
“So far the campaign [by Coiste Molli] has been doing fantastic,” says Amanda. “The funds raised are to make sure Molli lives the best life that she can. We would like to sincerely thank everyone who has donated to the Go Fund Me page Le Chéile do Molli, we will be forever grateful to you all. You are making a very big impact on her day to day life and her future.
“We would also like to take this opportunity to thank my parents Maitíos and Bobbie and my sister Emma, who throughout this journey have supported us with no bounds. They have been our rocks since day one and we will never have the words to thank them enough. We are very fortunate to have a great network of people around us.”
Anyone wishing to donate to Molli’s campaign should visit https://www.gofundme.com/f/utayu . For more information from Coiste Molli contact Máire Caitríona Ní Dhonnacha by emailing [email protected].