Mom, Taleda shares with us all about her son Adyn.
How did you choose the name Adyn?
We chose the name Aydn due to a bet between my husband and I. We made a deal that if I were to birth a girl, I would name her. If I were to have a boy, he would name the baby. Although I dreamed I would have a daughter and had expectations of the same, he won the bet. Aydn was one of seven names on his list, and one of the few with which we agreed. His name is spelled slightly different than people typically expect. I wanted to spell his name A-y-d-e-n which is Irish and means “little fire”. I think this is fairly accurate given his personality.
Three words that describe Aydn:
He is loving, independent, and resilient.
How and when was Adyn diagnosed with BBSOAS?
Aydn was 2 years old when he was diagnosed with BBSOAS. This diagnosis came after a couple of years of trying to convince various medical professionals that my motherly instincts were telling me something wasn’t right with his development. We went through seizures, constipation, failure to thrive, aspiration, a G-tube placement, lots of physical, occupational, and speech therapy as well as a significant trip to ICU. During this trip, Aydn fell into deep sleep, would not wake up and his vitals began to decline. Each time he would go to the hospital, for the most part, his blood work and vitals were mostly normal. I could not dodge the feeling that there was something significant that wasn’t showing up on the typical tests. We spent many nights in the hospital, and he endured innumerable amounts of testing until it was finally recommended that we take a genetics test. After we met with genetics, he was diagnosed with BBSOAS.
Does he have any siblings?
Aydn has a very sweet and helpful older brother named Owen, who is seven years old.
What are 1-3 of Adyn’s favorite things to do?
Aydn’s three favorite things to do are to listen to Cocomelon videos on Youtube, play with his brother, and to go outside on nice, breezy days to enjoy the sunlight and surroundings.
If eating solid foods, what are his favorite things to eat?
Aydn is currently fed via Gtube, so he receives all of his nutrition via a Kangaroo pump. However, when he was able to eat a little by mouth, he enjoyed sweet things such as popsicles.
What are Adyn’s strengths?
One of Aydn’s strengths is that he is resilient. He has a high pain tolerance which I am thankful for since he has been poked and prodded more in his “almost” three years of life than I have in my thirty-one years. He also has a sense of humor even while being non-verbal.
What has he taught you?
He has taught me that God has control over His life and not me. I have to release the desire to control every aspect of the present and future and enjoy the moment. He has also taught me to be grateful in ALL things because he has fought through so much just like other children with BBSOAS, yet he rarely complains by the way of crying. Usually if he does show discomfort, he just wants a hug or to be cuddled.
What is the hope you have for Adyn’s future?
My hope is that Aydn will be as independent as possible so that both he and his brother can enjoy each other’s company and be successful when my husband and I are no longer here. My biggest immediate hopes are that he walks and talks.
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 finding others who are in a similar situation with which to discuss the complications that can arise from the disorder. This is especially the case since this disease is so rare. I was told by the geneticist that we, the parents, are really the experts as we are experiencing the challenges in real time. I am VERY thankful for the BBSOAS parent support group on Facebook and the NR2F1 foundation as both of these have been instrumental with helping me to cope with each new symptom or change in behavior.
The most rewarding is that I have learned how to truly take one day at a time. Although, I still have dreams and goals, I know that the best moment is the present, as that is the only moment you are sure that you have. Also, it has been rewarding to be a part of a community of parents from all over the world who offer hope, suggestions, and support when things get rough. Each parent of a child with a rare disease such as BBSOAS are strong warriors as we navigate this battlefield together.
If you could go back in time and give yourself one piece of advice on the day Adyn was diagnosed with BBSOAS, what would it be?
I would say find an outlet to deal with the grief process and use it consistently. Many times people associate grief with death, but I do think there are some stages that we go through when we get a diagnosis. For instance, with Aydn, I always thought he would walk, talk, etc, but as he kept having seizures and had significant developmental delays, I had to come to terms with the fact that I don’t know what the future holds for him with such a rare disorder. I didn’t know if he would survive to see the age of two, so I had to find a way to deal with those conflicting feelings that I went through daily. My outlet is writing, so I started a blog called epi-mom.com to help guide other parents through this journey. Some of you may paint, or crochet, or hang with friends. Either way, have a plan for dealing with your feelings and emotions through the ebb and flow of the disorder.
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.