Step by Step with Anastasia
Donation protected
Hi my name is Monique, Mother to my beautiful ,bubbly little sweet girl Anastasia ❤️who has a rare Genetic Condition (Duplication of Chromosome 22q 11.2) and suffers from severe muscle hypotonia and developmental delays. Anastasia is currently 2 and a half years old. Anastasia is quite the warrior, she didn’t have the easiest arrival into this world as she was born premmie, at 37 weeks gestation and weighing 2kgs. She underwent her first month of life in NICU and then Special Care Nursery. Anastasia is a fighter. Anastasia has determination and strength and is the epitome of happiness. Fast forward ⏩ to 2 years later, she is now undergoing intensive physiotherapy, OT and speech therapy, which will all help Anastasia gain muscular strength to hold herself up unassisted and the ultimate goal of her starting to walk and talk.
The physiotherapy is too far away from our home, so we will need to get accommodation close by as we have to attend the intensive physiotherapy for 3 weeks straight for 4 hours total per day ⏳during November 2024 and a further 12 weeks total during 2025.
Any help would be appreciated for us to afford accommodation for the duration of Anastasia’s therapy as this is not funding which NDIS will cover.
Thank you so much!
Some facts about 22q 11.2 Duplication Syndrome:
* Approximately 70% of duplication cases are inherited from a parent, whereas others have a new genetic occurrence (de novo).
* If a persons with 22q duplication has a child, there is a 50% chance of passing on the condition.
* It is believed that it occurs in 1:4,000 pregnancies, with more cases going undetected.
* This is diagnosed via two testing methods including an array GH or MLPA testing, both via blood samples.
* It can also be diagnosed during pregnancy via an amniocentesis.
ℹ️ See PDF factsheet of 22q 11.2 Duplication Syndrome with the below link for more dets.
Organizer
Monique Ragalmuto Coffa
Organizer
The Oaks, NSW