07h 08m 12s
I’m walking 35km in The Bloody Long Walk for the third time for my beautiful daughter Lola who has Leigh's Disease. That’s 46,200 steps in one day!
Thank you for supporting meand in turn our little girl Lola. For those of you who don’t know Lola, she is a cheeky, intelligent, chatty, stubborn, strong willed and vivacious 5-year-old.
Lola was a healthy baby and child, but just a little short which her paediatrician thought was just a growth hormone deficiency. But in January this year after becoming a little unwell and an admission to Canberra Hospital on the night of 19th January we were to find out the casue.
It was on the afternoon of the 20th January 2017, that our lives changed forever as Lola’s MRI came back showing abnormalities in her brain and we were told she had a condition called Leigh’s Disease, a type of Mitochondrial Disease for which there is no cure and no treatment. This is a conversation Josh and I will never forget, and wish no other parents ever have to go through. Lola’s prognosis is very poor, few children with this disease survive more than five years of age, but we believe our little miracle will keep defying the odds and are willing to go to the ends of the earth to save her.
Our hope is to help keep Lola as healthy and as happy for as long as we can, and maintain her quality of life. We also want to ensure Lola has access to equipment and medical treatment as needed. Every donation big or small is so greatly appreciated in the hope of saving our daughter’s life and many like her.
In the middle of 2017 we received medical confirmation from the United States that Lola has two gene mutations in the nucleus DNA of her SURF 1 gene and this is responsible for Lola’s mitochondrial disease. The mutations are so rare there are only two other people recorded on the dataset with the first mutation (SURF1 NM_003172.3 - variant c.351T>Gp.Tyr117*) and presently, Lola is the only person they know of who has the second mutation (NM_003172.3:c.312_321del10insAT). We have been told that every person with mito is different and so we live each day not knowing what to expect or how Lola will progress, but as mentioned before have been told how most kids with SURF-1 Leigh’s progression do not live past childhood and as you can understand to be told this about your child is unimaginable and every parent’s worst nightmare . We have also found out Josh and I are both healthy carriers of these mutations, and are currently also looking at having the boys tested to rule out them having the same condition as Lola, as each child we have has a 25% chance of developing mito.
Although predominately her happy little self, Lola has already required numerous stays in hospital due to simple colds and illnesses, as these can cause Lola to go into respiratory failure or accelerate disease progression.
She truly is the bravest, strongest little girl I know, she has encountered more needles, cannulas, medicines and more cannulas as they have blown in single hospital stays then most experience in a life time and she just takes it in her stride, sometimes with a little help from Dolly Patron’s Jolene or Macklemore’s Glorious to help her through the needles (this always evokes a laugh in paeds at Canberra hospital as usually they play the wiggles or high five to distract kids!). We are so lucky to have such a great paeds ward here in Canberra, the nurses, doctors, Ronald Macdonald house and starlight foundation are all so beautiful, they all help to make hospital stays that little bit more bearable.
Lola has already needed to be medevaced from Canberra to Sydney Children’s Hospital once due to respiratory issues and for a number of tests in January, we continue to see specialist here every few months.
Sadly, Lola currently has already lost the ability to run around with her big brother Gerry (6) and her little brother Ike (almost 4) due to progressive muscle weakness and ataxia (wobbly walker), caused by the death of cells in her central nervous system. Lola also attends pysiotherapy, Speech and Occupational Therapy weekly in hope to keep her skills stable. The most important thing is that we are able to spend time making precious memories with Lola and our boys, Gerry and Ike. And we truly value each and every day, and take time to appreciate the small things in such a fast paced world.
For a lot of you, I’m sure you maybe have never heard of mito or Leigh’s disease like us and our families before this year.
Just a VERY SIMPLISTIC explanation of Mitochondrial function and why it affects everything in the body. Mitochondria make energy, they are like the power houses for our body. The mitochondria produce the energy our cells need to function, to replicate, and to repair themselves. They are the “powerhouses” of the cell.
Every cell, except the red blood cells (the carrier cells), needs HUNDREDS of mitochondria in order to have enough energy for the cell to do its work. Cells with greater work function (heart, brain, muscle, gastrointestinal) need a greater supply of energy and Mitochondria provide this energy for the cells to plug into.
When the mitochondria are not functioning well and the demand for energy exceeds the supply, we get mito dysfunction, and thus not enough energy is produced for the body to function properly.
As there are too many demands for energy and too few outlets to provide the energy, body systems are deprived of energy and their output is impeded, as some body systems MUST have energy, others don’t get enough and so this in turn causes other systems to malfunction or cells to die.
These are the body systems that require the most energy, and thus are the ones affected most when mitochondrial dysfunction happens.
Leigh’s Disease (a type of Mitochondrial Disease) is a progressive neurometabolic disorder with a general onset in infancy or childhood, often after a viral infection, but can also occur in teens and adults. It is characterized on MRI by visible lesions on the brain (dead or dying tissue), particularly in the midbrain, central nervous system and brainstem. The child often appears normal at birth but typically begins displaying symptoms within a few months to two years of age, although the timing may be much earlier or later. Initial symptoms can include the loss of basic skills such as sucking, head control, walking and talking. These may be accompanied by other problems such as irritability, loss of appetite, vomiting and seizures. There may be periods of sharp decline or temporary restoration of some functions. Eventually, the child may also have heart, kidney, vision, and breathing complications.
There is no cure for Leigh’s Disease. Treatments generally involve variations of vitamin and supplement therapies, often in a “cocktail” combination, and are only partially effective. and a special diet high in calories may be ordered and must be monitored by a dietitian knowledgeable in metabolic disorders.
I'm walking 35km in The Bloody Long Walk to help Australians living with mitochondrial disease, especially in hope of finding a treatment or cure that will save Lola's life.
I know I’ll cross the finish line exhausted and blistered, but that’s nothing compared to what people with mitochondrial disease (mito) go through every day of their lives.
Mito robs the body’s cells of energy, causing multiple organ dysfunction or failure. It can affect anyone at any age.
Please sponsor my walk to fund research into desperately needed treatments and cures for this devastating disease.
Every dollar will make a difference!
My 35km walk will be bloody tough, but with your support, I know I can do it. THANK YOU from the bottom of my heart!
Thank you to my Sponsors
St Gregory's Primary School
Lisa And Trevor Hughes
Joanne Huxley (dwyer)
Dale And Peter Matcham
Trysh Logan Jones