Siena Borg is the precious little love child of my dear friends, Ana and Andreas Borg.
Siena Borg, the precious little love child of my dear friends Ana and Andreas Borg, was born in July 2021 after a healthy pregnancy and quick birth.
When she was only six weeks old, she had her first seizure, and she has had one every day since. Siena was diagnosed with a random rare genetic disease called CDKL5 deficiency disorder. Only 3000 patients are diagnosed in the world, the majority of them girls, and because it is so rare, there is no cure or effective treatment.
Development is impaired in children with CDKL5 deficiency disorder. Most have severe intellectual disability and little or no speech. The development of gross motor skills, such as sitting, standing, and walking, is delayed, or not achieved. Only one-third of those affected can walk independently. Fine motor skills, such as picking up small objects with fingers, are also impaired; about half of those affected have purposeful use of their hands. The majority of kids with this disorder have cortical blindness CVI and very impaired vision. Siena might never walk, talk or see, no one knows how severely affected she will be.
Receiving the diagnosis shook their world to its core. However, Ana and Andreas quickly took it upon themselves to become genetic researchers and are on a long journey trying to find a cure. They discovered that in the next couple of years, there is a chance that gene therapy (reintroducing the protein into Siena’s body via a viral vector) might cure her. Gene therapies typically cost around USD$2 million.
I am not asking for the full $2 million yet; that will come later, my friends. We have a long journey ahead of us.
Right now, Siena needs ongoing, costly medical treatment, therapies and adaptive equipment: stander, walker and AFOs.
She needs daily Occupational, Physical and Speech Therapy that are not being provided by local Early Intervention programs due to lack of personnel, so she gets it privately. They also have to travel from NYC to Boston frequently to see experts at Boston Children’s Hospital in hopes to give Siena a chance at having the best treatment possible.
Ana and Andreas have been facing mounting medical expenses since Siena was born, and the bills are nonstop. Siena spent 2 months at the hospital in her first 4 months of life and is still being followed by many different experts and has frequent medical appointments: Neurologist, ENT, Pneumologist, Orthopedist, Neuro-ophthalmologist, Gastroenterologist, to name a few.
On top of the hardship of navigating life in the world of complex needs, they have to spend many hours weekly chasing insurance companies to resubmit claims, advocating for Siena’s needs, and the majority of time, unsuccessfully. This system isn’t set up to help families with medically fragile children. It is definitely not easy and it actually does take a village to raise a child with special needs. But I believe we can as a community help support these amazing parents in their journey, and hopefully make it a little more bearable.
They didn't want to ask for help, but I decided to do it on their behalf because together we can make this journey a little easier and help Siena thrive in the best way possible.
I ask you to donate if you can, any donation, large or small will make a big difference. But if you cannot, please share their story.
You can also help by reaching out to Ana and Andreas to ask how Siena is doing and follow her fundraiser (and future foundation) on Instagram.
Right now, Siena needs ongoing, costly medical treatment and physical therapy, so she can hope to walk someday.
I ask you all to donate if you can. But if you cannot, you can also help by simply reaching out to Ana and Andreas to ask how Siena is doing and by following her fundraiser (and future foundation) on Instagram;
Find out more about CDKL5:
Thank you, friends. It means a lot.
#CureCDKL5 #SienaForLife #CDKL5awareness