We continue our theme of positivity and resilience and how our amazing BBSOAStrong overcome obstacles every day. This month, Mom and NR2F1 Foundation board member, Ashlee Manjon-Stierstorfer shares about her feelings of grief and uncertainty, when Emma (now 7 years old) was first diagnosed and how that feeling never quite leaves, but you find ways to live with it.
Emma was diagnosed on September 10 2019, just one month after her second birthday.
A date as parents, we will never forget.
When we first noticed Emma not meeting those first milestones that a “typical” baby does, we knew something was off. At 4 months old we started our diagnostic journey with countless doctors, tests, and imaging to figure out what was going on. The first time we truly had to live and start processing our grief was when she was just 9 months old and her ophthalmologist gave us a brochure for Foundation for Blind Children and were told she is blind based off of in office exams and a brain MRI that showed she had pale and narrow optic nerves (aka Optic Nerve Hypoplasia). That was the first time that we as parents realized, she’s not just slow to meet those milestones, there is a real possibility she may never meet them.
It was at this point those 5 stages of grief really set in.
Denial – Not wanting to accept anything was wrong and she was just behind and that she would catch up in no time
Anger – Constant feeling of anger solely because we truly didn’t know what was causing all of her new diagnoses and then having to see 12 different specialists and 5 therapists to help her and try to put a name to it
Bargaining – We were lost in a maze of what did we do to cause this. We used donor sperm to conceive so it was a lot going back and forth of did we make the right choice with the donor we chose and trying not to blame ourselves (though we all know that is still something we do to this day)
Depression – I personally dealt with a high level of depression at this time. Like all parents we dreamed of what Emma’s future would be and things we would get to do like playing sports, arguing that I would teach her how to drive (because my wife is a passenger princess and not the best driver), what she would do as a career, getting married. At this point I was grieving not only that my baby now lived a life of constant appointments, therapies, and the unknown, but also the future I saw and all things she wouldn’t get to do.
Acceptance – it wasn’t until almost 3 years into our diagnostic journey that we finally received her diagnosis of BBSOAS so the acceptance came far after the first stages, but at this point we pulled ourselves up and took everything in stride and did everything we could to improve her quality of life based on this diagnosis.
Now, those stages of grief hit at the most random times throughout the years and just when I think I am good, a new thing happens, and I am again back at stage 2 having to go through it all again. There are things in life that I know I cannot change and must accept, but those things are hard. I never wanted this life for my child or myself and I would never wish it upon anyone. But in all the grief and anger at the hand we were dealt, I have been able to find solace in the journey, support in the BBSOAS community we have found, and joy in the wonderment Emma has for the world.
Emma has shown us that no matter the circumstances and diagnoses she has, the pure determination and perseverance she has will help her grow. She takes every appointment and therapy in stride, reaches inchstones when we were told by doctors, she may never do them (even if it is years after a typical kid), and has the absolute best smile I have ever seen. She started playing baseball this year with the Miracle League of Arizona, she jumps on the trampoline and laughs with pure joy, and works hard at school every day. Of course, we have our bad days when we can’t find the correct show she wants because she is nonverbal or she has a feeding regression so we have to rely on her G-Tube so she takes in her daily food needs. Those days definitely are hard and bring all the grief back, but at the end of the day, she snuggles us before bed and all is good in life.
Emma has a mutation in the DNA binding domain.