Our Amity is a super bright and bubbly 4-year-old with two younger sisters, the three little girl-besties.
Amity was born a perfectly healthy baby at Westmead Hospital, hit all her developmental milestones with no problems and was a social butterfly from day one.
When Amity was around 4 months old, we noticed one tiny red spot on her upper left cheek. It blanched when pressed and didn’t bother her so we didn’t think too much of it, initially. Over the next few months that one red spot turned into multiple red blotches.
At around the 1-year-old mark we had the initial GP appointment who then referred us to a Dermatologist. He wasn’t certain what exactly was going on so he then referred us on to another Dermatologist that worked with Westmead Children’s Hospital. By the time we eventually got in to see this Dermatologist, Amity had developed more red blotches on her face and now her limbs. All blanching red marks with a white “halo”- we were told this is characteristic of a capillary malformation caused by a genetic mutation.
We were then passed on to the Clinical Genetics department of Westmead Children’s Hospital who agreed with the Dermatologists suspicions and immediately ordered a specific genetic blood screening that had to be sent overseas.
Around a month later we received a phone call from the Geneticist telling us that Amity indeed has a very rare mutation with the Gene EPHB4 causing CM-AVM (Capillary Malformation - Arteriovenous Malformation Syndrome). We were also then told that the particular variant she carries has NEVER been reported previously in any patients or databases in the world.
Continuing with essentially zero information or procedures on what the next step is we agreed to an MRI under General Anaesthetic to check for any vascular abnormalities within Amity’s brain and spine. Other close variants with the gene EPHB4 in children have resulted in enlarged veins on or within the brain causing seizures and/or strokes. It has also been reported to cause non symmetrical limb growth which fortunately has not happened to Amity so far. Her MRI also confirmed no vascular abnormalities within the brain or spine so far.
Amity will have to continue with MRIs as she grows just to ensure the variant gene doesn’t cause any deeper or arterial malformations. Not knowing what the future holds for our daughter is an incredibly scary feeling and the fact that there is minimal research on any variant in this particular Gene is so frustrating and disheartening as a parent.
Amity is a perfect representation for reasoning behind Jeans for Genes Day and raising funds to support the research teams at The Children’s Medical Research Institute. While their research may not impact you personally, or maybe it does, many genetic diseases are not inherited and can happen randomly just like Amity's.
Their research could help a child you know now, a child you know in the future and it could help Amity.
Join us & join Amity. Help raise awareness and donate for the 1 in 20 children born with genetic diseases.
Join me. Share this message. Donate. Thank You!
Latest updates
So much love 🩵💙
Amity and our little family are blown away by the support we have received and the attention we have brought to The Children’s Medical Research Institute and what they do. Making the decision to share Amitys Genetic Condition with others didn’t come easy but we are so so glad we did. This huge support has motivated us to increase our original fundraising goal. Amity sends big smiles 😊🩵
My Impact
So far this year I helped provide...
252
Hours of research
For every $55 raised, one hour of research is funded
Thank you to our Sponsors
$21
Nicole Winram
Beautiful little lady, continue to do well and smile bright!!
$21
Jake Watson
$200
Anthony & Rhonda Gittany
$53
Raffaella Malkoun
God bless
$53
Mary Volpicella
God bless you Amity!
$30
Leanne Cowie
Thoughts and prayers for Amity and her family.
$56
Marco Nuvoli
$100
Tate Nabiha
God bless and heal you Love from Tate Nabiha
$116
Graham & Sharyl Jay
🥰Sending love. God Bless🙏
$55
Adrienne Wright
Lots of love
$21
Joey Appy
$53
Talar Shalala
$32
Jeans For Genes
Your donation has been doubled
$32
Susan Garrett
Best wishes
$32
Jeans For Genes
Your donation has been doubled
$32
Sebastian And Elise
Love from Seb. X
$32
Jeans For Genes
Your donation has been doubled
$32
Leah Wares
$200
Jeans For Genes
Your donation has been doubled
$200
Uncle Biggy
May the precious Blood of Jesus Christ heal you fully little angel ❤️ Lots of love from uncle BIGGY ❤️🙏🙏🙏
$56
Jeans For Genes
Your donation has been doubled
$56
Natasha Makerry
$108
Jeans For Genes
Your donation has been doubled
$108
Tony Makerry
God bless and protect all little angels.
$50
Jeans For Genes
Your donation has been doubled
$50
Danica Capuyon
$26
Jeans For Genes
Your donation has been doubled
$26
Kelly & Grant
$104
Jeans For Genes
Your donation has been doubled
$104
Alex, Lauren, Lachlan And Georgia
Big smile, and big heart. All our love and prayers to you all xx
$21
Jeans For Genes
Your donation has been doubled
$21
Kathryn Skok
Xxx
$56
Jeans For Genes
Your donation has been doubled
$56
Darcy And Rory Lear
$56
Jeans For Genes
Your donation has been doubled
$56
Sue Rennie
$401
Peter &margaret Yamin
$401
Jeans For Genes
Your donation has been doubled
$89
Peter & Margaret Yamin
Hoping a cure is found soon. God bless you Amity !
$89
Jeans For Genes
Your donation has been doubled
$30
Jeans For Genes
Your donation has been doubled
$30
Helen Nixon
$110
Jeans For Genes
Your donation has been doubled
$110
Lindsay Hay
$56
Jeans For Genes
Your donation has been doubled
$56
James Billo
$25
Jeans For Genes
Your donation has been doubled
$25
Julia Wright
$520
Jeans For Genes
Your donation has been doubled
$520
Wayne And Veronica Chapman
$208
Jeans For Genes
Your donation has been doubled
$208
Fady & Laura Tenn
$211
Jeans For Genes
Your donation has been doubled
$211
Bruno And Amsnda Maurel
$56
Jeans For Genes
Your donation has been doubled
$56
Natalia Mougios
We will keep your daughter in our prayers. May God guide you through this difficult time. Much love The Khouaiss family
$89
Jeans For Genes
Your donation has been doubled
$89
Marie Johnson
$158
Jeans For Genes
Your donation has been doubled
$158
David And Ann Yamin
Lots of love Amity. Keep smiling beautiful
$201
Jeans For Genes
Your donation has been doubled
$201
Stephanie Bahe
Lots of Love Ami xx
$200
Jeans For Genes
Your donation has been doubled
$200
George And Janette Bainou
Lots of love and God bless.
$110
Jeans For Genes
Your donation has been doubled
$110
Amber Colquhoun
$56
Jeans For Genes
Your donation has been doubled
$56
Great Western Animal Hospital
$323
Jeans For Genes
Your donation has been doubled
$323
Charlie Boutros
God bless you and may the Good Lord protect you always
$108
Jeans For Genes
Your donation has been doubled
$108
Joe Di Girolamo
💕
$56
Jeans For Genes
Your donation has been doubled
$56
Simone Ayoub
$105
Dom, Jess, Rita And Noah Herring
$56
Michelle Thomson
🩷
$56
Ben Flanagan
$21
Bridgette Wright
I don’t have much but i will forever support this beautiful angel
$250
Milaika Carrasco
❤️ Milaika
$158
Anonymous
$56
Jessica Schiavon
We love you Amity! Keep strong gorgeous! Lots of love from Jess and Franco ❤️
$56
Janette Di Biasi
$90
Stephanie Abi Saab
Love you so much baby girl! ❤️
$210
Joe Telese
Keep showing that beautiful smile Amity ❤️❤️
$110
Xx Belcastro Family
$53
Amanda Spiteri
Keep showing the world your beautiful smile ❤️ you are so loved Amity x
$211
Space Joinery
Sending you all lots of love 💕
$110
Victoria Bainou
Lots of love to you gorgeous girl.
$156
Lizzie
Love You ❤️ From your Godmother
$104
Eden Makerry
Love you Ami! Sienna, Chloe and Jayme 😘
$158
Josh And Karen
Congrats on being awesome
$91
Anonymous
God bless you Amity.
$91
Karen Wright
💕
$56
Jamie S
Sending love ❤️
$56
Michael S
Sending love and best wishes to Amity and the family.
$53
Ramez Saad
❤️✝️
$211
Steve Chuk
Soldier on Uncle 💗🙏
$520
Mark Makerry
Love you to the moon and back ❤️ love uncle mark xx
$56
Cole Fam
You have the best mama dad and sisters amity !
$110
Will And Jess
Go Amity!! So proud of you! Much love and god bless xx
$53
Kylie Gittany
$32
Rebecca Mohamad
$1k
Makerry Plumbing
Love you!!
$56
Theo Argy
$32
Pia Drewett
$30
Angelika Scuderi
$211
Empire Locksmiths
$158
Luke Makerry
I love you Dad
$158
Philip Barba
$110
Josh M
❤️
$42
Jess Robinson
$106
Tanika
$56
Luke Williams
$106
Daniel Makerry
$56
Sarah Cronan
$110
"Beautiful little lady, continue to do well and smile bright!!"