Help Aubrey's Family as She Battles Rare Disease

Aubrey is a beautiful 3-year-old girl and she has no idea why her body won't work the way it did at the start of this year.

My name is December O'Sullivan, and my niece and her family need our help. No parents should ever have to watch their child suffer, knowing there is nothing that can be done. No sibling should be making their Christmas wish for their baby sister to regain her strength back, but this is what my brother's family is facing.

At the start of 2021, Aubrey was a typical 2.5 year old who loved chasing her brothers, jumping on the trampoline, and dancing. She had met all milestones early and was strong and energetic.

Then she suddenly walked with a limp. Before she had her referral to neurology, she began to rapidly deteriorate. By April she could no longer lift her left arm, by June she could not climb stairs, and by July she could no longer run. Her muscles are atrophying and losing strength. In a matter of months, Aubrey has lost neck control, the ability to stand on her own, to roll over, or to sit up by herself.

As my brother and sister-in-law searched for answers, a muscle biopsy confirmed her diagnosis-Reducing Body Myopathy caused by a single missense mutation in her FHL1 gene. If Muscular Dystrophy is rare, than this disease is beyond ultra rare. There are only about 30 known cases in medical literature and of those, the number of patients who began having symptoms in early childhood is around 10.

It has been impossible for her parents to watch as their only daughter loses her ambulation and even harder to understand that at the beginning of the year she was fully capable and loving life.

There is very little funding for research of this disease, there is no available treatment, and there is no cure.

As my brother and sister-in-law fight for research funding and search for answers to help Aubrey, they are facing costs that they never could have known to prepare for.

In 6 months time, Aubrey has had 52 doctors appointments, 9 different specialists, over 50 IV placements, over 100 needle pokes, she has had 5 prescribed medications, 1 weekly chemo shot, 2 which take her immune system to nothing. She has had to deal with a 10lb weight gain on her tiny frame due to steroids. She has had over 70 hours of pt ot therapies, 11 IVIG infusions, 1 muscle biopsy, 4 MRIs, 3 Echocardiograms. Even when not at the hospital, this sweet girl gets stressed knowing she will have to go back again soon.

They will have to move their family to a home that is ADA accessible and closer to doctors who specialize in the research of this gene. They will have to pay for renovations to widen doorways, open floorplans, and update their home to meet ADA standards to accommodate wheelchair use, and improve accessibility for in home physical and occupational therapies. They will need to buy a wheelchair accessible van, and home equipment that will allow daily life to be easier as now full-time caregivers.

They are determined to find a way to give her a home built for her, where she will never feel left behind by not being able to go where her abled body brothers go, and where she will never feel like being wheelchair dependent is a burden to move around her home.

Aubrey and her family do not deserve to be going through this. She has remained her happy, spirited self through it all. My hope is that with this GoFundMe, there will be one giant less stress on my family as they work to make this sweet girl comfortable. I want her to be able to keep her bright, sassy personality as she transitions from fully capable to fully dependent. I hope that this support will help ease the incredible burden my brother and his wife are facing. And I hope that someone,somewhere will hear what this poor baby is going through and will find a treatment to this horrible disease.

Please help this family meet the growing financial demands while battling this rare disease and giving Aubrey the quality of life she needs and deserves. Insurance does not cover any of these costs, so any amount you contribute will make a huge difference for them. If monetary contributions are not an option, please consider sharing this page to help their family. Thank you, from the bottom of my heart, for anything you can do to help.