Prue Thompson Rare Disease Day Interview

Prue Thompson Rare Disease Day Interview

Rare Disease Day raises awareness amongst the general public and decision-makers about rare diseases and their impact on patients and their families. This year marks the seventh annual World Rare Disease Day on Friday 28 February and the Melbourne-based Mission Massimo Foundation is going to shout about it, with the help of a new innovative crowd funding app for charities.

A disease is considered rare when it affects less than one in 2,000 births. Over 80 per cent of rare diseases have identified genetic origins and typically 50 per cent of rare diseases affect children. Leukodystrophies are a group of life-threatening rare diseases that affect the formation of myelin around nerve fibres in the brain. When myelin is not produced correctly these nerve fibres short-circuit, preventing the transmission of electrical signals leading to a progressive loss of function and often premature death.

Although children can be diagnosed with a Leukodystrophy based on imaging alone, over 50 per cent of variants remain genetically unclassified, offering little hope of treatment, an unknown future and an almost certain tragic outcome. Whilst individually rare, Leukodystrophies may not collectively be altogether uncommon as is being revealed by next-generation DNA sequencing technologies.

The Mission Massimo Foundation promotes the prevention, diagnosis and treatment of childhood Leukodystrophies and aims to exponentially accelerate the discovery of genes responsible for these debilitating conditions, one shout at a time. The Foundation has just joined forces with Shout For Good, a Melbourne-developed crowd funding app, allowing people to make small donations through their smart phones or tablets. Instead of shouting a friend a coffee, the app invites you to -shout' the sequencing of a gene related to a type of Leukodystrophy.

In 2008, the year Foundation Patron Massimo Damiani was diagnosed with an unclassified Leukodystrophy, the cost of sequencing an entire human genome of three billion base pairs was $1 million.

Using the Shout for Good app, people can now donate the equivalent of a -shout' to sequence the gene responsible for a condition, based on its length. However as the cost of human genome sequencing continues to plummet, the Foundation hopes that one day people will be able to shout a person's entire genome to help achieve diagnoses for patients with other unclassified Leukodystrophies.

Foundation Secretary and Gen Y'er Jo Hendler said, 'The Shout app is a fun, quick and convenient platform for people to donate a small amount of money that, collectively, will make a big difference to the many families who are affected by a rare disease. It's also a great way for us to raise awareness of Leukodystrophies and the science of genomics amongst the general public, particularly young adults who have been quick to respond to the app. We encourage everyone to give a shout this World Rare Disease Day."

https://shoutforgood.com/getapp

Interview with Prue Thompson

Question: Why is Rare Disease Day important to you?

Prue Thompson: My son Luca was diagnosed with a rare genetic disease Infantile Refsum a year ago.


Question: How will you be raising awareness on Rare Disease Day?

Prue Thompson: It is vital for rare diseases to achieve a diagnosis ASAP early diagnosis = early intervention = better patient outcomes.

Telling friends about the Mission Massimo Shout for Good app to increase awareness of childhood leukodystrophies and rare diseases.

Training for Run Melbourne Mission Massimo Foundation Running Crew to raise funds and help improve diagnosis and raising awareness of their incredible Space Flight promotion for childhood leukodystrophies: http://www.missionmassimo.com/?page_id=1246


Question: What do you hope Australians learn on Rare Disease Day?

Prue Thompson: There around 8,000 known rare diseases, many are still unclassified.
A disease is considered rare when it impact less than 1 in 2000 births.
80% of rare diseases are genetic in origin and 50% impact children
Leukodystrophies are individually rare collectively not altogether uncommon 8,000 rare diseases


Question: Can you talk about your own personal story regarding rare disease?

Prue Thompson: Luca was diagnosed a year ago, we were told on the day that there is no cure or treatment, the only thing we could do to help Luca was through diet.
Luca can not have dairy, beef, lamb, fish dried fruit or nuts (low phytantic acid diet) Luca has speech therapy, OT, physio therapy on a regular basis.
Being faced with a diagnosis of such a rare disease can be very frustrating as no one can give you any answers to your questions, and research is very limited. It is up to us as parents to try to raise money and awareness for the future.


Question: What is Infantile Refsum Disease?
Prue Thompson: Infantile Refsum disease falls under the umbrella of Peroxisomal Biogenesis Disorder, Zellweger Spectrum Disorder. (PBD-ZSD)

Infantile Refsum disease is an inherited genetic disorder that damages the white matter of the brain and affect motor movements.

Children with IRD have some peroxisomal function resulting in less severe than others on the Zellweger spectrum. Symptoms of IRD may vary, but can start in infancy with retinitis (can lead to blindness), hearing problems (usually leads to deafness), poor muscle tone, lack of muscle coordination, mental and growth disabilities, enlarged liver.


Question: How and when was your son diagnosed with Infantile Refsum Disease?

Prue Thompson: Luca was a late crawler (1yo) and didn't walk until he was 2. We were having regular check-ups at the RCH as they were still concerned with his wobbliness. After a general check-up the doctor was concerned with the size of Luca's liver, so an ultrasound was scheduled. The results came back and yes Luca's liver was 2cms larger than it should be. So bloods and urine came back positive to Infantile refsum disease.


Question: How does Infantile Refsum Disease affect your family on a day to day basis?

Prue Thompson: In the beginning not knowing what was ahead was tough. Now that I have my head around Luca's diet it is a lot easier. Luca takes 5 different supplements every day which most morning can be tricky. It's Luca that is the battler dealing with IRD every day. He is a happy little 4yo that tries so very hard every day to keep up with his friends, and he is so tied by the end of the day, but he gets up every morning with a smile on his face and hits the world head on.


Question: What are the biggest difficulties, for you regarding the fact your son has a rare disease?

Prue Thompson: Without a doubt, not knowing what the future holds for my little boy.


Interview by Brooke Hunter