Meet Josie! This superstar can be found enjoying aquatic therapy, giving hugs to anyone and everyone that comes her way, and is a lover of tickles. Josie recently made HUGE accomplishments with communication, making happy noises when she is happy and angry noises when she is upset. To learn more about Josie's seizure journey, the amazing support system Josie's family receives from Facebook, and more, read the interview conducted with Josie's family down below!
1. To start off, can you tell me a little bit about Josie?
Josie is our sweet four year old girl and has Leigh Syndrome, which leads to the degeneration of the central nervous system (makes up the brain, spinal cords, and optic nerve). Josie was diagnosed with auditory neuropathy spectrum disorder (ANSD) at birth and a few month later, while hospitalized for debilitating seizures, she was diagnosed with Leigh’s. The news was devastating to our family and we brought her home after being told she’d be lucky to see her first birthday.
Leigh Syndrome is a rare form of mitochondrial disease which affects all aspects of Josie’s life. She has to use supplemental oxygen, is fed through a g-tube, and cannot sit by herself. She still has seizures, and she has both hearing and vision impairments.
However, Josie is a fighter! After beating her initial prognosis, she has continued to make huge strides. She learned to smile again, has the most beautiful grins, and recently learned to roll over on her own, which is something we've been working on for quite a while! She also loves playing in the water and looks forward to going to her weekly aquatic therapy, which helps Josie move more with less pain and pressure on her joints and muscles.
2. What do you love most about raising Josie?
Seeing her change and grow. The most rewarding part of being a parent is seeing the person your child becomes, but it's even more so when that child has such challenges on them. The first time Josie rolled over we practically threw a party! When Josie was first diagnosed, she lost the ability to smile, but when we first started getting small smiles, we were beyond excited. Now she full on laughs, but every time she smiles is a miracle to me.
3. What would surprise people the most about Josie?
How much Josie truly understands. She is nonverbal, but she very clearly knows what she wants and has her own unique ways of communicating. She knows when it's the end of the day and when it's bath time. She knows when her sisters are nearby and she will turn to them and want them close. She has what we call her "listening eyes." It's a specific look Josie will get on her face when she is paying close attention to her surroundings.
4. What characteristic of Josie do you love most?
Her determination. She goes to multiple therapies every week to help with her motor skills and teach her to communicate. She has had so many hard hits in her life, and her illness makes it hard for her to do pretty much anything. However, Josie hits every challenge head-on and surprises all of us! She learned to roll over (something we thought she would never do), is learning how to sit on her own, and is working on making choices with the help of a switch. She has a sign in her room that says "This Girl Can" and she truly encompasses that phrase.
5. You previously mentioned that Josie has improved a lot with interacting with others. Can you elaborate further on Josie's communication milestones?
Previously, the only way we could really understand what Josie wanted would be to read her body language. This year she has learned how to use a switch to operate a toy consistently. She has also learned how to ask for more playtime by reaching up and touching our faces and will make very obvious happy noises (like laughing or giggling) when she is happy and very obvious angry noises when she's upset. Now we are working on making choices in school and in her daily living activities. She is learning to be more in control of her environment and it's truly opening up a whole new world for her!
6. What does Josie love to do?
Josie is a sweet, easy-going kid. She loves being with her family, being held, and being tickled. She loves any kind of physical play that gives her vestibular input, meaning things that move the fluid in the inner ear. She loves being held in your arms and being tipped over so her head is close to the floor. She will ask to repeat this game by tapping your cheek with her hand. She loves being spun around in circles in your arms or in her Special Tomato chair (a special needs seating system). She would love rollercoasters if she were able to be safely held in one. Josie also loves anything to do with water. Bath time is her favorite time of day and in the summer she is happiest when she's swimming in the pool. Recently, we discovered that the sound of bells or chimes make her laugh!
7. What have been some of the most helpful organizations and outlets guiding you through your daughter's journey with Leigh Syndrome?
I am in a number of Facebook groups for parents of kids with Leigh Syndrome or kids with special needs. Being in those communities is beyond comforting not only for advice but also as a support system to lean on when faced with obstacles. When Josie was diagnosed, I had never even heard of Leigh Syndrome. Those first few months were terrifying and isolating, but finding this online community of parents who have been there and shared their experiences with us has been amazing. That's one of the reasons why I started Josie's Instagram page. I wanted to share her journey with other people and hopefully help another child or parent.