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This year, my sister and brother in law were told the diagnosis that no parent, relative, friend, or honestly anyone should ever have to receive about a child. My niece, Frankie, was diagnosed with a terminal rare genetic condition, Sanfilippo Type A, without a cure or treatment, that will see her lose the ability to walk, talk, sleep, eat and will eventually end her life prematurely, most likely in her early teenage years. As the decline can be rapid, we truly have no idea how long we will have with Frankie, or how long she will be able to do the things she loves.
It’s incredibly important to us to do everything we can to support Bella and Harry, their son Freddy, and of course Frankie; helping them create a lifetime of memories in the precious time they have together. We also hope to ease some of the financial burden that comes with this condition; from medical bills, specialised care, and equipment, to allowing Bella and Harry the time to step back from work and be with their family and care for Frankie.
About Frankie:
Before i go on, i want to tell you about our 4 year old Frankie. Whoever has been lucky enough to spend time with Frankie will know, she is without a doubt the strongest willed child. Her big eyes make you want to do anything for her, and her curiosity is something everyone should take note of. She is courageous in her own way, you will find her swimming in the oceans in the depths of winter with a smile on her face, she will fly down a flying fox as fast as she can a thousand times over, but definitely don’t make her meet a dress up mascot…EVER. Her love language is food, and she has taste…great taste! She will happily tell you where her favourite oysters are from whilst curiously wanting to know what you have in your kitchen.
Frankie loves hard and with all her heart. She loves her family hard and she loves her friends hard, and we love her HARD.
Frankie has taught us a lot, more than she will ever know and we, her family, want to be able to give her everything we possibly can, while we can.
Frankie’s road to diagnosis:
Frankie’s parents, Bella and Harry, started noticing developmental delays in Frankie about two years ago. They have spent the last two years searching for the answer as to why Frankie may have been delayed in components of her life such as language and movement. In their gut, they knew that there was something going on, but no health professionals had any answers. From one medical referral to the next, without any answers and time ticking by, they never seemed close to discovering the answer.
It wasn’t until a urine test that discovered that Frankie had an elevated amount of a specific carbohydrate/sugar (glycosaminoglycans) in her urine that triggered an investigation and eventual diagnosis of MPS type three A, Sanfillipo Syndrome (MPS IIIA).
This is a parents worst nightmare, losing a child, and having to watch it happen without being able to do anything, is simply cruel.
About MPS:
MPS (Mucopolysaccharidoses) is a rare genetically recessive inherited metabolic disorder that is caused by the lack of lysosomal enzymes causing elevated glycosaminoglycans. These sugars help our body build bones, cartilage, skin, and connective tissue. However, when they can’t be broken down, they build up in a person’s brain and spinal cord. Overtime, this build up will progressively cause permanent damage that impacts organ functioning and cognitive development, eventually leading to the child being in a vegetative state.
The best years of Frankie’s life are right now. Bella, Harry and Freddy, have a really short amount of time together, to share moments that will stay with them forever, as well as making Frankie’s life better, in any capacity, for longer. This journey will take a significant toll on the family emotionally and financially whilst they navigate Frankie’s medical care, behavioural/skill regressions, sleep issues, and the extensive allied health appointments that require significant time away from their paid work. It is an expensive road ahead for their family, and we, their extended family, want to make their life easier in anyway we can. We would love your help in helping them, anyway you can.
The money raised will be directly transferred to Bella and Harry for the uses detailed above.
More information on Sanfilippo below: