Meet Mira! She's an adventurer - always exploring nature and ready to go camping! Despite Mira's physical limitations caused by a rare mutation of the GNAO1 gene, she joyfully pursues what she loves,even starting the company Mira Moves Mountains (https://www.miramovesmountains.com/)
with her mother to showcase her sweet tooth and love for baking!
This interview is conducted with Mira's mother, in which we discuss about Mira's condition, their company, her goofy personality, and more!
1. To start off, can you tell me a little bit about Mira ?
Mira is a happy, confident, and adventurous four (almost five!)-year-old girl! She is affected by an extremely rare mutation of the GNAO1 gene, which essentially results in choreoathetoid cerebral palsy. She experiences two severe movement disorders, chorea (involuntary movement), and dystonia (involuntary muscle contractions), neither of which responds particularly well to medication. Our best hope for controlling her movements will be deep brain stimulation, but she is not old enough yet to qualify for that procedure in the United States. Mira is nonverbal, non-ambulatory, and is 100% dependent on a jejunostomy tube for her nutritional needs, which is a tube placed through the skin to deliver food and medicine. She can take very small tastes of food orally and she absolutely loves to bake! We have recently started a company, Mira Moves Mountains, which will feature dog treats Mira helps bake, baking mixes Mira helps measure and prepare, as well as some other fun goodies. Mira loves to explore new environments and recently started camping around the midwest with her family! She has two sweet doggies and a little brother who is her best friend. Mira makes quick friends with everyone she meets and is on a mission to make adventure more accessible!
2. What are some of Mira's challenges with her mutation of the GNAO1 gene?
Being totally nonverbal, it is sometimes difficult for Mira to communicate with others. She is working hard at learning an eye gaze system; however, it has been challenging to get the device she needs and be covered by insurance, and sometimes Mira (and her caregivers) get frustrated when she can't fully express herself. Her severe movement disorders also cause her pain and anxiety, and it is difficult for her when her body is completely out of her control. However, despite her challenges, she is a very happy and patient child.
3. What is Mira's day to day life like, and has it been affected by her diagnosis?
Mira is currently attending pre-K virtually through our local school district, but she spent nearly 4 years at a special needs preschool in our metro area. She currently receives outpatient therapy four times a week and therapy through our district four times a week. She's a very busy gal! Some of the services she receives include speech therapy, physical therapy, occupational therapy, assistive technology, aquatic therapy, and hippotherapy (therapeutic horseback riding). In addition, some of her medical devices include a GJ tube, a suction machine, and a cough assist machine, and she uses a wheelchair and an adaptive stroller,
4. What would surprise people the most about Mira?
Mira does not have any cognitive delays and is very communicative and bright, despite being nonverbal. She has the same interests as all of her peers and loves to play and chat!
5. When someone meets Mira for the first time, what do you hope they think?
I hope people see Mira for who she is and not her physical limitations. I hope they think she is the funny, sweet, silly, and smart girl that her friends and family know and love her for.
6. What are some of Mira's hobbies? What is her personality like?
Mira loves exploring nature and going camping, playing with baby dolls, doing art projects, and watching her favorite shows. She is extremely goofy and playful, and she is always up for an adventure!
7. What is the most important thing for someone to understand about Mira's condition?
Mira's condition is extremely rare, so we are in rather uncharted territory. We don't fully know what to anticipate for her future, but we do know the condition is variable day to day, sometimes even hour to hour and seems to be progressive. We hope those who encounter her bear in mind the unpredictability of her disease and understand how fragile she is. Her symptoms can change rapidly, without warning, and dramatically increase in severity. Being a part of Mira's life means being patient, calm, and staying present to meet her exactly where she is during any given moment.
8. Has Mira's diagnosis affected your job?
I am no longer able to work full-time, though being a special needs parent led me to an amazing part-time career related to developmental disability that I absolutely love and wouldn't trade for the world. I am also now working with Mira on a private small business venture called Mira Moves Mountains and it's awesome to get to work on a passion project with my amazing daughter :) .
9. Are there any resources which you recommend if anyone wants to learn more about Mira's condition(s)?
Gnao1.org is a wonderful organization which spreads awareness and provides resources to those effected by the GNAO1 mutation!
10. If you or Mira could tell the world one thing, what would it be?
Kindness is good, inclusion is better.
Meet Maryam! She is a bright little girl who is a great speller and can play many tunes on the piano.
Maryam has CHILD syndrome, a rare condition that effects about 60 people worldwide. Still, she has achieved so much, with her most recent accomplishment being taking her first walking steps! This interview is conducted with Maryam's mother, and we discuss more about Maryam's wonderful achievements, the effect of the COVID-19 pandemic on Maryam's day to day life, and more.
1. To start off, can you tell me a little bit about Maryam?
Maryam is 5 years old. She was born with CHILD syndrome, a rare syndrome that affects about 60 people in the entire world. Her right side is smaller than her left side and she is missing a kidney on that side. She was born without hair on the right side as well. Her right hand and foot are also smaller than her left. CHILD also comes with a skin condition so she needs a certain cream daily to prevent her skin from flaking.
2. What are some of Maryam's challenges?
Because Maryam's right lung is small, her lung collapsed when she was 6 months old which forced her to get a trach and she is currently vent dependent. Through therapy though, we are weaning her off the vent slowly and hope that her lung grows healthy enough to be ok without it. Also, because she has trouble swallowing and retaining food, she has a GJ tube for eating continuously. Her ability to walk has been affected because of her feet difference in height, but with therapy and a shoe step, she has been working on walking and strengthening her muscles.
3. What is Maryam's day to day life like, and has it been affected by CHILD Syndrome? If so, how?
She has a morning and night medicine routine to keep her lungs open and healthy including a chest PT vest which helps keep mucus from building up in her lungs. She gets physical and speech therapy weekly to help her progress and get stronger.
4. What would surprise people the most about Maryam?
She is a great speller. Even though she can't use her voice, she is able to communicate through spelling on her keyboard. She surprises us with the requests she makes and makes us laugh often. She loves to read and catches onto mistakes if we say the wrong word. She is also very attune to music and beats, and knows how to play several songs on the piano! :)
5. When someone meets Maryam for the first time, what do you hope they think?
I hope they see her for the smart intelligent human she is. I hope they see her as a 5 year old who just wants someone to read to her and play with her like any other 5 year old.
6. What are some of Maryam's likings/hobbies? What is her personality like?
She is very particular and orderly. She loves to keep her toys a certain way and always orders us around! She loves music, bubbles, and books. You can read to her all day and she would love it! She has an ear for music too and that's one of her favorite therapies!
7. What is the most important thing for someone to understand about Maryam?
That although she is fragile and has medical equipment, she is just like any other kid who loves to be read to and entertained.
8. What is a recent accomplishment/ milestone of Maryam?
She recently took a few walking steps which was a huge deal!
9. Are there any resources which you recommend if anyone wants to learn more about CHILD Syndrome?
She has a Facebook page called CHILD syndrome - Team Maryam that you can follow to stay updated on her progress.
10. Has the COVID-19 pandemic affected Maryam's day to day life? If so, how?
For sure. Because she is medically fragile, we have been strict on not inviting friends or family over which has made it difficult for me and her. She leaves the house less and visits family less because of it. So it definitely limits the people we see.
11. If you or Maryam could tell the world one thing, what would it be?
No obstacle is too hard to overcome. Every obstacle is merely an opportunity to grow and reach a higher potential.