Charlotte Varcoe
“WE are trying to make as many memories with Mia as we can, which is the most important thing and just make sure she knows she is loved as much as she is,” a Mount Gambier mother of three told The Border Watch as she recalled the past month.
Sarah Hutchesson-Webb and Jake Powell spoke of the community's generosity with more than $13,000 raised to support them on their medical journey for 16-month old Mia at a recent fundraising event.
The event was held at the Mount Gambier Golf Club last Friday night with local businesses and community members coming together to throw support behind the young family.
In mid-January, young Mia was diagnosed with tay-sachs, a rare genetic disorder caused by the absence of an enzyme called beta-hexosaminidase A (HEX-A) which helps break down a fatty substance called GM2 gangliosides.
As a result, GM2 gangliosides build up to toxic levels in the brain and spinal cord, progressively destroying nerve cells.
With two older boys – aged two and five – Ms Hutchesson-Webb said the community support and spirit had left the family speechless.
“It has been really amazing and touching as well as humbling,” she said.
“Saying thank you isn’t enough and it is incredibly overwhelming just to think so many people care and are here for us and the time and effort people have put into supporting us has been amazing.
“When we first heard about the diagnosis we didn’t expect this community support because it was not just the Mount Gambier Golf Club but the broader Mount Gambier community.”
Ms Hutchesson-Webb said she felt alone after hearing of the diagnosis which took many specialist trips to find.
“When I was told about the diagnosis I had a panic attack and felt so alone, but now knowing we have the community support, I don’t feel that anymore,” she said.
“We found out about the diagnosis on January 19 this year so it is all still very recent and fresh.
“When we first thought something wasn’t quite right we spoke with her childcare centre and saw a Child and Family Health Services (CaFHS) Nurse, who referred us to a pediatrician who then referred us to a neurologist.
“Mia had an electroencephalogram (EEG) done which came back quite normal except for slight seizure activity.”
She said once the EEG results came back Mia was prescribed medication to help and it was not until the second visit to the neurologist where it was discovered she had an excess startle.
Thinking her condition was hyperekplexia – which is a rare medical condition where the individual has an excess startle reaction such as eye blinking or body spasms to sudden unexpected noise, movement or touch – Mia was then trialed on medication which was expected to significantly reduce or stop the startle within a week’s time.
“Mia was on that medication for a week or two and the neurologist told us the results would be quick and noticeable,” Ms Hutchesson-Webb said.
“When we found out the medication wasn’t working the neurologist pushed for her to have a full genetic test and an MRI.
“We had the MRI on January 18 and got the results the next day which showed she had little to no myelination.”
After further discussion it was concluded Mia had Tay-Sachs Disease, with the laboratory now focusing on the genetic testing for complete confirmation.
“Leading up to the diagnosis there have been a lot of trips to Adelaide, and a lot of follow ups with a physiotherapist, speech pathologist, and occupational therapist, who we will still
continue seeing.
“We have also referrals to a respiratory doctor, ear nose and throat specialist, dietician, and Mia also has a swallow test booked,” Ms Hutchesson-Webb said.
“From here on out we want to keep Mia as happy and comfortable as possible while preventing her from escalating as much as possible and avoid things like pneumonia which will help prolong her life for as long as we can.
“Having these fundraisers and the community support takes the financial pressure off us but also the humanitarian side of it is amazing as well and knowing there are so many people out there that care for Mia is incredible.”
Craig Foster was one of many behind the scenes for the fundraiser and said it was a “no- brainer” to help the family in need.
“I helped organise the event and ran the goods and services auction but the entire evening was a brilliant outcome and a heartwarming result,” Mr Foster said.
“For what Jake and Sarah are going through it was impossible not to lend a hand and the community support on the night was brilliant and the amount of people who made donations and dug into their pockets for the raffle, auction and cash donations was fantastic.”
The Mount Gambier Golf Club will be hosting a range of other fundraising events for the family soon to be announced.
