Donate to help Freya fight Methylmalonic Acidemia

After nearly two years of researching, emailing, calling and fighting to get Freya on a clinical trial in hopes of treating her methylmalonic acidemia we have now been gifted the possibility of not just one but two clinical trials.

When we first got the news about Freya's rare metabolic genetic disease there was no treatment or cure. Extreme restricted diet control is all we can currently do to help slow the progression of her disease and lesson the occurance of metabolic decompensations.

In the US they perform liver transplants within the first year of life to reduce methylmalonic acid that is produced by the liver which also reduces decompensations. Unfortunately a liver transplant surgery is extremely high risk and doesn't stop further neurological decline and metabolic crises in people with MMA.

It has recently been discovered that MMA levels can start to rise again later in life which causes further complications as post-liver transplant recipients are immune compromised, need anti rejection medication for life and can lead to liver cancers.

Methylmalonic acidemia is nasty aggressive disease that affects nearly all of Freya's organs causing irreversible damage.

Methylmalonic acidemia can lead to metabolic crises due to a toxic buildup of acids in the body and progresses into multi-organ disease. As a result, MMA is associated with significant mortality and morbidity, and there are no approved therapies. Standard of care includes dietary and palliative measures.

Freya will need a double kidney transplant and liver transplant at some stage with no specified timeline as it could take years or progress rapidly at any moment if we dont act now to get her treatment.

We were told she would have a stroke at some point due to a crisis and to stay isolated as best as we could until she was four years old to give her the best chance of recovery after a stroke.

We knew in the early days of diagnosis that every day brings Freya closer to organ failure and brain damage. Words can't describe how heart breaking and cruel it is seeing your baby starting to become their own person, knowing that even a simple tummy bug or viral infection could take that all away.

We have been consumed with researching peer reviewed studies and desperately searching for experimental treatments or surgeries that could potentially slow the progression of her disease, even if it just buys her time until developing technologies can create a long term treatment or cure.

The more we learnt about MMA the further we would fall in despair as there was no options for her and we were desperate... until now.

A pharmaceutical company called HemoShear has developed a potentially life saving medication.

'HST5040 is being developed by HemoShear to lower toxic metabolites that build up in MMA and PA as a result of genetic deficiencies in key enzymes required to break down certain amino acids from protein. These toxins can result in severe organ damage, developmental deficits, and premature death.'

And

'The Moderna Landmark Study is evaluating whether an investigational treatment, called mRNA-3705, is safe in participants with methylmalonic acidemia (MMA) due to MUT deficiency who are 1 year of age and older. mRNA-3705 is an investigational intravenous (IV) infusion treatment that is intended to instruct a person’s body to make a properly functioning methylmalonyl-coenzyme.'

We are currently undergoing screening for the HemoShear clinical trial in Victoria and the Moderna trial is currently going through the Australian Medical Ethics Board right now and we are hopeful it will be approved by the end of this year.

If the Moderna trial is not approved in Australia we will have to relocate to the UK as our metabolic consultants feel this trial is Freya's best chance of treatment.

As you can imagine it's very costly relocating to another state and then possibly overseas. The trials will be ongoing over the next couple of years and we will be without any close family support. This makes it very financially taxing as Freya needs specialised care resulting in us being a single income family without any financial benefits from centrelink.

Sam has already used his yearly leave entitlements and sick leave due to Freya's hospital admissions at the beginning of the year.

We are selling all of our stuff that Is valuable to self fund the move. But any small donations toward helping fund Freya get treatment and our interstate/overseas relocation would be hugely appreciated. Thanks heaps.