Our Fund Raising In Loving Memory of
Henry Palmer Barnes
20th March 2015 - 6th June 2022
Who was Henry..?
This is Henry, our bouncy bubbly hectic 6 year old from Portsmouth in the UK.
Henry has always been an active boy. He loves the outside, watching films, and playing his Xbox.
Our son started to lose his hearing at the age 3, and is now profoundly deaf. Doctors performed tests, but couldn’t find anything medically wrong. They just put it down to being “one of those unfortunate things.”
On Boxing Day in 2020, Henry starting walking “funny.” Our GP referred us to the hospital, where had had an MRI showing an abnormality to his cerebellum. At the same time, Henry became very lethargic. He wasn’t eating or drinking, was sleeping all the time and became bed-bound.
Henry ended up being admitted to Southampton Children’s Hospital Neurological Ward where we stayed for just over a month. He under went every test you could imagine, and in February 2021 we received the devastating news that Henry had Mitchell Syndrome.
Henry doesn’t know about his condition. How can you tell a 6 year old he has a life-limiting condition, with no treatment! How could I answer his questions if doctors can’t even answer mine? Henry just knows he’s growing poorly.
As of September 2021, Henry is doing amazing! He has his cochlear implant operation soon. Fingers crossed that it’ll work, as this will massively change his life.
Our boy is a strong little boy with so much strength and determination! He’s a fighter. He’s our superhero.
-Written by Henry’s mother, Laura (September 2021)
Also, remember the unknown number of Mitchell Syndrome people out there, children and adults, all around the world, who still need help. We are committed to raising awareness of this very rare syndrome.
So what is Mitchell Syndrome?
As long as children have had genes and neurological problems, some of them have had Mitchell Syndrome. However, the disease is so rare that it went unidentified for all of human history. It also presents differently in different people, making it hard to categorize. And it’s only with genetic sequencing—a recent development—that researchers have identified the genetic cause of this illness. As of June 2022, we are aware of 15 people—children, teenagers, and adults—who have been diagnosed.
So what is Mitchell Syndrome?
Here you’ll find a short explanation—and at the end of this description, a link to additional resources for those who want more.
The short of it is that Mitchell Syndrome results from a genetic mutation on the ACOX1 gene of a child’s DNA. This single mutation is likely not passed down from parents, but happens accidentally in the embryonic stage of a child’s life. It results in a broken process within a child’s peroxisomes, which are small bodies inside our cells which break down fatty acids into energy and other materials needed for proper cell function. As a result of the ACOX1 mutation, the peroxisomes metabolize (break down) these chemicals too quickly, producing an abundance of hydrogen peroxide, which is a by-product of this process. Normally, cells can rid themselves of hydrogen peroxide. In the case of children with Mitchell Syndrome, however, the cells get overwhelmed. While useful in certain amounts, hydrogen peroxide is a very toxic chemical and can slowly destroy cells—as it does in children with this disease.
Interestingly, this build-up of hydrogen peroxide is most destructive in a certain kind of cells: Schwann cells, which make up the myelin sheathing around nerves. Myelin sheathing is a protective coating that allows nerves to conduct signals from the brain and body. This damage to the myelin inhibits things known as axons—the nerve “cables” running from the brain to the body. As a result of this axonal damage, a child develops mobility and balance problems, and slowly loses gross and fine motor skills. Hearing, eye, and skin problems are also common, and sometimes—as the disease progresses—cognitive decline.
As mentioned, Mitchell Syndrome presents differently in different children. For some, cognitive decline develops early—for others, late. We don’t understand yet why there are differences in age of onset, type, and severity. Note also that Mitchell Syndrome is related to other “peroxisomal disorders,” including ACOX1 deficiency. While both Mitchell Syndrome and ACOX1 deficiency involve mutations on the ACOX1 gene, they are distinct diseases with different symptoms and presentations.
Gene therapies exist which might help children with Mitchell Syndrome, but the technology is not yet developed or available. Additionally, a possible treatment exists which might help mitigate the effects of the disease. A relatively simple antioxidant (N-acetylcysteine amide, or NACA for short) could slow the damaging effects of hydrogen peroxide in Schwann cells. Unfortunately, that medicine is experimental, untested for this purpose, and not yet available for children with Mitchell Syndrome.
That’s the short of it, but there is a long to it. For parents and people who want to understand the genetics, bio-chemistry, and neurology of Mitchell Syndrome, The Mitchell and Friends Foundation have prepared a thorough explanation of the disease, and posted it along with other helpful resources. Click on the links below.
*All information is from The Mitchell And Friends Foundation. You can read more on their website mitchellandfriends.org
What are we doing to help?
Our team are more than just work colleagues, we are a family. And as most families do, when one member is finding live difficult or having a tough time, we all pull together and support each other.
We have already held a fund raising event to help raise valuable funds to help Henry's family after his passing and we are going to hold our Summer Fete this year in memory of Henry and to help us raise enough money to send Laura, Steve, Pearl and Poppy to Disney World in Florida to fulfil Henry's dream.
Our Disney themed Summer Fete will be held at Shedfield Lodge on Saturday 20th August 2022 between 1pm & 4pm
If you would like to help us send Laura, Steve, Poppy & Pearl to Disney, you make a donation on our Just Giving page www.justgiving.com/crowdfunding/shedfieldlodge-henry