Sienna

Siblings: Ava (almost 5), Bailey (16)
Parents: Annina and Anthony
Year of Birth: 2019
Hometown & Country: Melbourne, Australia

A Message from Sienna’s Parents:

Sienna was born in October 2019 at 38 weeks via CaesarianShe was in and out of the special nursery because of her jaundice and she struggled to put on any weight (she would throw up after almost every feed), in the end we had to bottle feed her to keep track of her milk intake and burp her multiple times each feed. When it was time to introduce solids she struggled with swallowing so she stayed on puree for quite some time. She also became very constipated, and still has to have laxatives to help her bowel movements.

At around 10 months old she was diagnosed as having a vitamin b12 and iron deficiency (at this point her low muscle tone and inability to hold herself up on her tummy was evident, along with very little use of or even self- awareness of her own feet/legs).She was given b12 injections and iron supplements and seemed to pick up a bit from there (may have been a coincidence).

She was then diagnosed with Peters Anomaly, as she had cloudy patches in her eyes, although her vision is fine. Doctors then suspected her of having Cerebral Palsy and had a microarray and MRI done, however nothing was found. Following this, she was then placed under the global developmental delay category. At this time, she was behind in her speech, fine and gross motor skills, and dribbling a lot!!!

Since then she has had Physio, Speech, and Occupational therapy. She now crawls, sits, and walks with the use of a gait walker (with afos), but can pull herself up and cruise along a couch. She feeds herself,  talks a lot and is now at the right level of speech for her age. She has recently developed a stutter, however we are now working on this in speech. Additionally, she has muscle spasticity and tends to curl up her feet when she puts weight on them and turns them in.  

We have just completed her first 3 week intensive therapy at the NAPA Center (Neurological and Physical Abilitation Center)! Prior to her therapy here, she was only standing unsupported for approximately 1 minute with maybe 1 unassisted step (wearing afos). Now after this 3 week therapy she managed to take 50 unsupported steps (Walked with only afos helping her)! 

Finally, Sienna was diagnosed with MCOPS12 in early 2022. The geneticists had told us that the syndrome was very rare and there was very little they could tell us about it. So we started researching on the internet and found the Cure MCOPS12 website. That’s when we connected with Reinhard and Edith and received much more information about the syndrome. 

We have since started our own Facebook page “A cure for Sienna” and have begun fundraising to contribute to the research that Reinhard and Edith have started at their non-profit, Cure MCOPS12.  

Sienna is such a beautiful, happy and super determined girl, although she did tend to bite her 4 year old sister if she doesn’t get her way! She just loves life, is super determined and almost always smiling. She loves dancing, music, and playing with her sister and her friends. 

What are our Dreams for Sienna?

Our dreams for Sienna are for her to grow old and be able to reach any goals she has in happiness!  

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