Mom Ashlee shares with us all about Emma.
How did you choose the name Emma?
Her first name was chosen before we even started the process to have her. Emma is Diana’s grandmother’s name and she had always wanted to give that name to her daughter. Luckily for her, I too love the name so that was the easy one. Her middle name, Leimomi, was my grandmother’s middle name; it is Hawaiian and has a few different meanings, literal being Strand of Pearls, but it also means Blessed Child. In the Hawaiian culture, the grandparents are responsible for helping chose the Hawaiian name, so my mom and I had many conversations about which name to go with and since we were going with Diana’s grandmother’s name, it only made sense to choose my grandmother’s name for her middle name.
Three words that describe Emma:
Resilient, Happy, Energetic
How and when was Emma diagnosed with BBSOAS?
Emma was diagnosed on September 10, 2019, just a month after her 2nd birthday. Due to her large list of symptoms that had seemed to have nothing to do with each other and the fact that she has Optic Nerve Atrophy with no standard cause for it lead us to a geneticist. She had whole exome sequencing and after a long five month wait we received the results. After we received them and spoke with the genetic counselor it felt as though everything finally fell into place and we at least had a name to what was going on with our baby.
What are Emma’s favorite things to do?
Emma constantly needs familiar music or videos playing to help keep her centered. She loves watching Dora the Explorer and Little Baby Bum videos, which means we can now tell you what happens during each episode because we both work from home so to help keep her occupied while we are working we keep videos going for her so she doesn’t feel stuck in the office all day. She started to walk in October 2020 so she now loves walking and climbing everywhere and on anything!! She definitely doesn’t like toys, but give her a washcloth (which we now own 53 of them) or a wooden block and she is a happy camper!
Emma is fed via g-tube. Describe a typical day for her using one & how this works.
In 2019 we noticed that Emma was not gaining weight and was losing interest in eating so in December of that year she had her g-tube placed. She doesn’t rely solely on her g-tube for all of her feeds throughout the day so her situation with it is a bit different than the “norm.” Emma has an unusual eating pattern so when she eats a bottle, she had a suck-breathe-swallow pattern which causes her to aspirate and no take in enough of her formula to sustain her. Her sensory processing disorder also plays a huge role in her eating because she does not want textures in her mouth, so she hasn’t learned how to properly chew or swallow solid foods. She is on a diet of pediasure and uses a bottle throughout the day for intake, we then use the g-tube to finish up the daily dose she needs so that she sustains her weight. She also has 7 daily prescriptions she takes for a variety of her diagnoses, so we use the tube every morning to give her those meds without a fight. There are days when she needs to have tube feeds more than once a day, but her average is to have 3 full bottles and 1 full tube feed daily.
What are Emma’s strengths?
Emma’s strengths are her ability to roll with the punches and her ability to adapt to the situation she is in. She does have autism and sensory processing disorder so if she is in a situation she doesn’t want to be in, she has this innate ability to take herself mentally out of the situation and soothe herself with a variety of coping strategies she’s developed over the years. We as parents feel that experiences are one of the best parts of life, so pre-covid times, Emma went absolutely everywhere with us. We have season passes to the aquarium and zoo, she went to every type of restaurant, and took adventures around the continent with us. We are very conscious of our surroundings so we obviously take precautions to make sure she can handle where we are, but we want her to be able to participate in everyday life, to the best of her ability, so we don’t shy away from things. Even when it comes to her daily therapies, she does what she can and just rolls with it as much as she can handle.
What has she taught you?
For me (Ashlee), I have had way more trauma in my life both medically and emotionally, so she has just made my optimism grow. I watched both of my parents survive Stage IV cancer so I knew when she starting to show different medical issues we would take everything in and do what we needed to do to survive and help her with whatever we can. She has taught the both of us that the love I thought I could give was nothing compared to the love I have for her and what it truly means to love something so unconditionally that it can overcome anything thrown our way.
What are the most challenging and rewarding aspects of raising a child with BBSOAS?
The most challenging aspects of raising a child with BBSOAS are the unknowns. The second we knew we were pregnant I had a list of things I couldn’t wait to do and to show her and now that we have the diagnosis those things have had to be put on the backburner and some deleted from our plans altogether. We know that our future holds more doctors, procedures, and hospital visits and that is one of the hardest parts, knowing that I can’t give her a kiss to make the boo-boo all better. Another challenging aspect is just the lack of information at times. The Facebook group has been an amazing resource, but there are still so many differences with the kids and who has which symptom so it’s hard for us knowing that we truly have no roadmap of what life can possibly look like for her.
The most rewarding aspects are the joy and experiences we have had because of her. We have been able to connect with families (both BBSOAS families and others from our Foundation for Blind Children) who have been absolutely invaluable to us and will be lifelong friends. She has taught us a new way of thinking and has helped to open our eyes to more of the world and it has been amazing. She has taught us to stop and smell the roses and to enjoy each and every inchstone she reaches and to enjoy the little things in life.
What is the hope you have for Emma’s future?
We hope that Emma continues to grow and learn and explore the world to the best of her ability. Once we are able to go back into the world, we plan on continuing to show her everything we can and expose her to all aspects of life. This pandemic has unfortunately thrown a wrench into our lives and Emma has experienced many setback so we just want to be able to give her any and all resources to help her get those skills back and build upon them. We really hope that she is able to find some sort of independence and can learn skills beyond what she is able to do currently which is on average those skills of an 11-month-old and be able to reach her potential (whatever it may be).
If you could go back in time and tell yourself/ves one thing on the day Emma was diagnosed with BBSOAS, what would it be?
I would tell us to not spiral in the lack of information. We used every resource available to find every paper written and study done and that just left us feeling so defeated because of the lack of those very things. Mainly to not fall down the rabbit hole of the unknown and to tell ourselves that it will all ultimately be ok and to focus on the positives and the things that make Emma happy.
Carlie is the President of the Board of Directors for the NR2F1 Foundation, a registered 501(c)(3) non-profit organization dedicated to those living with rare mutations on the Nr2f1 gene.
With a B.S. in Special Education and a M.S. in Counseling, Carlie has worked at EPU Children’s Center as a Resource Specialist serving parents of children living with disabilities and then directed a parent leadership group for disability advocacy through storytelling and public speaking.
Carlie lives with her husband Jeff and their two daughters, one of whom has the rare Nr2f1 gene mutation, in Royal Oak, Michigan. She wants all Nr2f1 families whose lives have changed dramatically to know they are not alone.