Quinn is only 8 years old, but he is already our super champion! Our middle child presents a little differently to most but those around him quickly fall in love with his wicked giggle and love of chicken nuggets.

When Quinn first arrived we were excited to welcome our second baby boy. We envisioned our two boys, Laif and Quinn, growing up together full of energy with plenty of rough and tumble. We couldn't be happier. Yet, as Quinn neared his first birthday, we began to realise that his life was taking a different course. Quinn wasn't responding to his name being called by a familiar person, nor was he engaging in any gross motor activities such as crawling, pulling up to stand nor walking. Instead we spent his second year of life traversing between doctors' appointments and medical tests. This little guy was super unique and around his second birthday it was confirmed that Quinn had a rare genetic disease - Mucolipidosis Type IV (ML4). At this same time, we discovered the ML4 Foundation and were fortunate enough to travel from Sydney, Australia to Atlanta, USA for an amazingly informative ML4 medical conference. It was here that we learnt how best to support Quinn and what the future may hold for him. We will forever be grateful for the knowledge we gained so quickly amongst a team of dedicated doctors, scientists and warm ML4 families from around the world!

Quinn is unable to walk, talk or even feed himself. Fortunately when he was three, he gained a little sister, Harlow. As they have grown, Harlow, with Laif, have helped support him in play, song and cheekiness! Quinn partakes in physiotherapy, occupational therapy and speech therapy sessions weekly. He can now stand for lengthy periods of time, finger feed himself and communicates through vocalisations - a moan and shake of the head for 'no', and a distinct giggle for 'yes'. With plenty of hard work and play, we hope that he will eventually take independent steps on his walker, spoon feed himself his yummy macaroni cheese and use switches to let us know just how often he wants to go shopping – one of his most favourite activities!

With each birthday we continue to get excited about the skills Quinn may obtain although we also know that each year he is getting older and his disease is taking a further hold of his body. He is already considered legally blind although he can see outlines. As he ages, his eye sight will continue to diminish, his arms will become stiffer, his scoliosis may worsen and we worry he will eventually lose the ability to eat all of his delicacies. The scariest part is not knowing if we will continue to be able to adequately care for him, to lift him, to assist him when he is uncomfortable in bed throughout the night, or ensure he won’t choke on his vital meals. As he gets older, his parents do to! And his loving brother and sister will hopefully have their independent lives to enjoy as well.

Where there is research, there is hope. The ML4 Foundation may be a small organisation but each member has the biggest heart. Here the real work is being done to ensure Quinn, and people just like him, have the best quality of life. From studying our children from around the globe, scientists and doctors are working towards treatments and cures so that ML4 children will be happy and healthy children. Happy and healthy children who can walk and talk, climb trees and swim in the ocean and grow into successful adults with families of their own. By raising funds, this dream WILL become a reality.

ML4 is a genetic disease caused by the mutation of a single gene that results in the loss of a protein (MCLN1). This incredibly important protein is required by the body for normal functioning: without MCLN1, children and adults with ML4 suffer from progressive and debilitating loss of gross and small motor function, go blind, develop problems chewing and swallowing, rarely have the ability to speak, cannot walk, and over time, lose many abilities that work hard to acquire when they are young.

The funds raised by the ML4 Foundation are directed to a research program at Massachusetts General Hospital/Harvard in Boston. We have been working for several years with a team there to create a gene therapy to treat ML4 which has been proven extraordinarily successful! This therapy works by putting the MCLN1 protein back into animal models that have ML4. At the same time, we are funding a large scale clinical study of ML4, bringing ML4 patients from around the world to the Harvard clinic to be seen by the world specialist in this disease. This pediatric neurologist will lead the clinical trial of this gene therapy when it is soon approved for testing in humans by the FDA. YOUR DONATIONS made this work possible and allow it to continue at a speedy pace!

For more information, visit us on the web at ml4.org.

Quinn's ML4 Foundation Fundraiser

Raising funds to find treatments for ML4

Team Members