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Izzy’s journey with Bloom Syndrome

By Jodie Madry Join Me

Garvan brings together world-leading scientists and clinicians, collaborating locally and globally, to advance our understanding of disease, particularly cancer, autoimmunity and genetic disorders.  We are a global leader in fundamental biomedical research and its translation. Our mission is to make discoveries that will improve health for all.  Learn more about Garvan's research here. 

I've created this page because I want to make a difference.

We are thankful for the work of the Garvan Institute of Medical Research, so I wanted to raise money for them as we continue to raise awareness of Bloom Syndrome, a rare autosomal recessive disorder characterised by small stature, sensitivity to UV, immune deficiency and a high risk of cancer. 

Please help us help them by giving whatever you can. The more people that know about the Garvan Institute of Medical Research, the greater their impact, so please also spread the word by sharing my page with your friends and family.

Thank you in advance for your generosity, it means a lot!

The Madry family (on behalf of Izzy) 💙

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My Updates

Rare Disease Day 2025

Friday 28th Feb
The journey continues....

After 6 years on the journey this week Izzy started Immunoglobulin therapy (IVIg) for a common condition found in the Bloom Syndrome (BS) Community, immunodeficiency! 

Children with Bloom in particular are reported to get frequent ear infections, stomach upsets, colds and/or lung infections, especially in their younger years.  Once Izzy was diagnosed with BS it brought so much more understanding to her frequent respiratory illnesses and stomach upsets as a child and into adulthood where we were seeing her need lengthy periods of time off work due to recurrent respiratory tract infections. 

Fast forward to November 2019, Izzy began to see a Respiratory Specialist at the Prince of Wales Hospital in Randwick due to ongoing respiratory infections and was later diagnosed with Hypogammaglobulinemia. In 2024 she was referred to an Immunologist at Prince of Wales Hospital and just this week started her first IVIg infusion in the Ambulatory Care Unit of POWH Randwick. The "liquid gold" as they call it is collected from the blood donations of 15 people and costs around $2,800 for each infusion.  It is not lost on us how fortunate we are to live in a country with good medical care and access to this therapy for Izzy.

Due to the high risk of cancer, we believe this treatment will assist her immune system to fight cancer down the track.  We have heard good reports within the BS community that it helps with energy levels and assists in less respiratory illness. 

Last year I (Jodie) met with Associate Professor Owen Siggs after his seminar on the Genomics of Rare Disease Registry. The Genomics of Rare Disease Registry is part of a national study focused on understanding the genetic causes of rare diseases, with the goal to better understanding, identifying and managing them. Through the registry,  the aim is to connect families affected by an inherited rare disease to new research opportunities, including studies that can assist with finding a genetic diagnosis. For more information, please visithttps://www.garvan.org.au/research/clinical-trials/rare-disease-registry

Our hope is to raise more awareness of Bloom Syndrome and research to assist not only our Aussie families but others who have been diagnosed throughout the world and have become like family to us.  

If you would like to join us in supporting the research of Rare Disease please donate to Izzy's fundraising page and we will ensure that goes to the right area to support this vital research. 

On behalf of Izzy, thanks for your ongoing support of her and walking this journey with us. We will also be setting up a team with the Blood bank to help support the donations that are needed for IVIg infusions in the near future...more details to come.  

Rare Disease Day 2023

Thursday 16th Feb

Izzy’s going to Chicago

Wednesday 13th Apr
It has been some time since we posted but the past few weeks has been exciting and devastating.  

Exciting, because we have our flight booked  to attend the Bloom Syndrome Association Conference in Chicago in August.  It will be an opportunity for Izzy to meet other Bloomies and be encouraged in her journey, 

Devastating,, as we have received the news of two Bloomies who have lost their battle with cancer.  We are so heartbroken for these families and continue to advocate all the more for answers and a cure. 

Each parent remembers vividly the day they receive the diagnosis for their child.  It is very hard to process and leaves you with a grief that is indescribable. 

We will keep supporting the work of Garvan and our association because every life matters…

21 years on the journey

Tuesday 31st Aug
On 16th August Izzy celebrated her 21st Birthday, it was a great celebration with lots of surprises along the way.  

She was treated to 9 bunches of flowers and several balloons together with a Boho themed picnic with Mum, Dad & Sister Angie.  

A day after we headed to Randwick to sign papers for a procedure that was needed due to symptoms that Izzy had been having.  Results for that are just in and no evidence of cancer was found.  She will need ongoing surveillance for this due to some abnormality found that could cause cancer in the future.

Skip forward another week and Izzy was admitted for another procedure. Colon cancer is the third cancer on a list of most prevalent cancers found in the Bloom community. We are still waiting on results but it appears with the findings that this will continue to be checked every 6-12 months.

On 4 September we had planned an event to raise further funds for Garvan Research. Due to covid restrictions we can’t go ahead but we can walk in pairs and continue to raise awareness and funds for research. 

Surveillance is key to prolonging Bloomies lives. Treatment is reduced to approximately 35% the recommended chemo due to chromosome abnormalities. 

Please join with us in continuing to support vital research to support not just our precious girl but others around the world on the sane journey. 

Article in Illawarra Mercury

Sunday 2nd May
We are thankful for the Illawarra Mercury helping us raise awareness for Bloom Syndrome.. 

We are also thankful for everyone who has contributed to raise funds for more research. 

Dr Mandy Ballinger video

Friday 30th Apr

Our last 10km walk

Friday 30th Apr
Only two more days and we will be completing our 10km walks, it will be a relief to get to this point as it has been a long 10 weeks for this challenge. For the first 8 weeks we have directed our funds to the Bloom Syndrome Association in the USA and have raised over $500 towards research so far. We would like to thank Garvan Institute of Medical Research for their surveillance for Isabella and as they endeavour to find better treatments for people living with Multiple Organ Cancers. We were so shocked and grieved to find out that Isabella had Bloom Syndrome after 19 years of attending medical appointments which included genetic consultations. We are thankful to know how to support Isabella into the future and for trials such as the SMOC trial which aim to find cancer at a very early stage so that it can be treated effectively due to the issues surrounding DNA repair. Please join with us in supporting ongoing research to improve the outcomes for not only our Bloom families but for others. We are hopeful that this may give answers to the wider community. Please watch the video in my next post where Dr Mandy Ballinger discusses the WBMRI which Izzy is a part of for Surveillance of Multiple Organ Cancers.

10th Walk for Bloom Syndrome Research

Wednesday 28th Apr
We are excited to be completing our 10th x 10km walk this Sunday to raise awareness for Bloom Syndrome and to raise funds for Research.  Please join with us in supporting Izzy and others to improve outcomes and treatment options. 

We are very thankful for the research of Garvan, they are one of the main researchers for Izzy’s SMOC trial. A WBMRI (Whole Body MRI) happens each year in May to give her the best possible outcomes. 

As we continue to raise awareness of Bloom Syndrome we are asking our friends and family to help where you can, to support people living with this rare disease. Please share our page and join with us in supporting Izzy’s journey with Bloom syndrome. 

#BloomSyndromeAwareness
#Izzysjourney
#thankful
#research

Thank you to my Sponsors

$106.12

Tori Day

💕us

$263.75

Paul Vassallo

$54.12

Judith Vaartjes

$54.12

Margaret Rutty

My best wishes to you Isabella.

$100

Jodie Madry

$106.12

Barry Anger

$263.75

Paul Vassallo

$42

Jodie Madry

Love you beautiful! E will keep fighting for answers for you and others facing cancer. .

$52

Judith Vaartjes

$263.75

Paul Vassallo

$105.50

John Madry

Love you Izzy and will continue to advocate for you and fight for more research 💙

$52.75

Mandy Bailey

You got this Izzy! Here is to you & the many amazing years ahead for you xx

$100

Pauline Skellon

$50

Anonymous

$400

Barry Anger

Lots of love from Nanny & Pa

$21.10

Sandy Grant

For my family Christmas charity card person!

$105.50

Mark Thomson

$158.25

Kathy Woulfe

$26.38

Bernie Mallon

All the best I can not walk on Saturday as I am working but you all are in our thoughts.

$26.38

Anne Halpin

Sorry we can’t join the walk, but can support the cause

$26.38

Geraldine Van Oord

Go Izzy!! <3

$100

Nyrie Davis-raiss

Go team Madry!

$26.38

Gerrie Tollardo

$10.55

Rachel Collier

$52.75

Margaret Rutty

My Best Wishes Isabella.

$52.75

Victoria Day

$105.50

The Bryant Family

Praying for you Lizzy!

$10.55

Andy Heins

$79.13

Helen Turner

Team Madry all the way❤️✅

$52.75

Western Sydney Madry's

Go Izzy! Keep up the good work!

$26.38

Michelle Barker

Lots of love to you guys from B, M, E, S and J.

$105.50

Jane Hammond

$20

Lauren & Dave

Sending our love and prayers! 🙏 Dave, Lauren & Audie

$105.50

Kipps Family

What a challenge you all have. Physically, mentally, emotionally and spiritually . Our prayers are continuing and you tackle life step by step.

$100

Pam Wilson

$10 for each of the 10 weeks 💙

$52.75

John Madry

$31.65

David Solomons

Let’s pray that you reach your target and that this mystery can be unlock not just for people in IZZY’s situation but in other areas as well GOD Bless from, David & Mae S.

$52.75

Robyn Anger

Love Nanny & Pa, you are doing a good job.

$52.75

Mandy Bailey

Izzy.. Keep on smiling that beautiful smile ❤

$52.75

Jodie Madry

My Team Members