Our surprise baby Harlow was born on the 31st of December, 2024. Although she measured big the whole way through the pregnancy, nothing prepared us for the day she was born. Weighing a whopping 12pounds 5ounces (5.6kgs) with a head circumference of 41cms!
When Harlow was born, we noticed her body was covered in birth marks. In the following days after her birth we were met with multiple paediatric drs, specialists, tests, you name it, to find out why our little girls skin looked the way it did and why she was so big.
It wasn't until harlow was 6 months old that we got the results of her genetics testing. Harlow has MCAP syndrome, also known as megalencephaly-capillary malformation which "is a complex disorder that involves many organ systems including the skin, blood vessels, connective tissue, brain and others, and that usually manifests at birth. Most affected individuals have a disproportionately large head and vascular malformations including capillary malformations on the skin of the midline face, trunk and limbs. These capillary malformations often show a lacy or reticulated pattern (resembling a net or web and are sometimes termed “cutis marmorata”). Most children with MCAP have an enlarged brain (or megalencephaly) and other findings on brain MRI scans with associated neurological problems." https://rarediseases.org/rare-diseases/megalencephaly-capillary-malformation/
Only 300 people are reported to have this syndrome in the world!
I'm doing ks for kids to help raise money to fund research into this extremely rare genetic condition.
Did you know that 1 in 20 Aussie kids are born with a genetic disease or birth defect? That’s one in every classroom!This August, I’m taking on the Ks for Kids challenge - walking or running to raise funds for Children’s Medical Research Institute, supporting scientists who are working today to find cures for tomorrow.
Your donation will help keep labs running, research advancing, and hope alive for kids who need it most.
Every step I take is for them. Your donation will help me go the distance and fund vital research!
