Our daughter Mirabelle was born on March 19, 2019. She was born with an extremely rare condition called Dup15q. This condition basically means that she has extra copies of part of her 15th chromosome.
We knew very early on that she was different, because she had an intense fascination with lights even from only a few months old, and she wasn't hitting any milestones. We didn't get her diagnosis until she was 2 1/2 years old though (right before she learned to finally walk), and it was a huge surprise because I had genetic testing done while I was pregnant and it wasn't detected. Her condition is so rare that they don't test for it. I didn't even know it existed before getting the diagnosis.
Mirabelle is six years old and on paper, tests at anywhere between 4 and 12 months of age in terms of developmental milestones. She is non-verbal, has low muscle tone, is super hypermobile, and is autistic with severe sensory issues. We're working with feeding therapists to try to keep her from needing a feeding tube, as she will only eat a few different foods and can't really chew. She can't communicate with us, so it's a constant challenge to try to figure out what she wants and needs, but I do my best. I'm home with her all the time, and I work in the yarn studio while she's either sleeping or playing in the next room. She won't walk in public, and taking her anywhere outside of the safety of our home is very difficult, because she's sensitive to noises. Even just music playing at a grocery store cause sensory overload. She has no sense of danger, and loves to climb on absolutely anything that she can. She has been having seizures since she was a baby, and we've been struggling with keeping them under control and needing to adjust her medication. On an average day when her seizures are well controlled we'll see 3 or 4 seizures. On bad days, we can see 20-30 seizures, and that's just the ones that are obvious.
Mirabelle is obsessed with two cartoons, which must be on at all times. Puffin Rock, and Mighty Little Bheem. She loves to dance and twirl, loves her sensory and pod swings, and is absolutely obsessed with big hole beads, which she recently started putting in her mouth, so we had to take them away. She likes to drop toys over and over in your hands. She's the light of our world, and unlike anyone I've ever met. We're so grateful that she's ours.
She will be with us for the rest of her life, or until we're too old to take care of her anymore.
At the end of 2023, we moved from North Idaho to North Carolina to be closer to better medical care and services for her. We currently have a therapist working with her a few hours a week to try to help her communicate with pictures, but it's a work in progress.
This is what you support when you choose to purchase from a small business. Every order helps ensure that I can always stay home with her, because there is literally no other alternative. It also allows us to purchase things that she needs and things that will make her happy, and helps us give her the happiest life possible.
