This time of year is often a season of giving, reflection, and thanks. As a mom of a special needs child with a rare and complex condition, I dish out many “thank yous.” But I but often find it hard to find the time to reflect on why.
Our daughter, Ryder, was born in Southern California in 2012. We drove off into the sunset with our seemingly perfect, healthy baby.
Ryder Has Her First Seizure and Isn’t Meeting Typical Milestones
My husband deployed, and Ryder and I moved back to Ohio for the time being. During this time, we met the team at Cincinnati Children’s. We had some concerns about Ryder meeting typical milestones at age one. After an MRI, we found out that Ryder had volume loss in the white matter of her brain. The cause was unknown. A few months later, Ryder had her first seizure.
We were seen again at Cincinnati Children’s and discharged with emergency medication and a plan if it happens again. We left Ohio in May to drive back to California and to welcome home my husband from deployment. On the drive, Ryder had a seizure that lasted over 25 minutes and was not stopped by her emergency medications. I am forever thankful to the medical team that saved her life that day in Sayre, Oklahoma.
Ryder’s Family Moves Her Care to Cincinnati Children’s
After the seizure, tests were run, and no cause was found for why Ryder was suffering from developmental delay. Now at 15 months old, she was not crawling, pulling to stand, walking or talking. About 1.5 years later after a particularly scary episode, my husband and I decided it was best to leave the West Coast and move Ryder’s care back to Cincinnati Children’s. We hoped to find an answer to the seizures and ongoing developmental issues.
Once back in Cincinnati, Ryder was enrolled in the Perlman Center. She spent two years in a preschool setting receiving therapy and continuing to make progress. Although still not walking, she was now crawling, pulling to stand, and walking with her walker. Around this time, we transitioned our care to Dr. Franz, who decided to perform a Whole Exome Sequencing test to try and find a diagnosis for Ryder.
Whole Exome Sequencing Finds Rare Diagnosis: Asparagine Synthetase Deficiency Disorder
About 6 months after the test was performed, we received the results. Ryder, now 4.5 years old, had a condition called Asparagine Synthetase Deficiency Disorder. At the time, one of about 19 children in the world had been diagnosed. This disorder is mainly characterized by small head size (microcephaly), progressive loss of brain tissue, severe developmental delay, limited to no mobility or speech, muscle problems that worsen though childhood, and recurrent and uncontrolled seizure activity.
It is an autosomal recessive disorder, which means that Ryder inherited a bad copy of the gene from both me and my husband. The research states that most children with this disorder do not typically survive past infancy or early childhood. After waiting almost five years to receive a diagnosis, there was a sense of relief, followed immediately by devastation. We now knew what we were up against, but the answer was far worse than we had ever anticipated.
How Ryder’s Doing Now
Ryder, now almost eight, has worked so hard to defy the odds against her. Although milestones did not come in a typical fashion, we enjoyed each “inch” stone as they came. She began walking independently at age 6, after several years in the intensive summer therapy program within PT/OT. She is starting to use an iPad to communicate at school and home, attends her local public school, and recently trained for and ran in a 5K with the Be Well program. After receiving a diagnosis where the research suggests she will not do all the things we hoped and wished for, it is an indescribable feeling to see her doing all of these things.
Giving Thanks for 4 Years Free of Seizures, And So Much More
Through all the ups and downs, we have taken the cards we were dealt and played them to the best of our ability. I am so thankful to be celebrating four years seizure free, a day I thought we would never see. I am thankful for my husband and son for being Ryder’s biggest fans, and often putting their wants and needs to the side for her. Importantly, I am thankful for our family and friends. We could never repay you for all you are to us. I am thankful for all of those who have been on Ryder’s medical team from day one. They were a part of shaping her into the little girl she is today. I am thankful for the countless hours therapists have spent coming up with ideas to keep her engaged and working hard.
This ultimately led to her freedom from her wheelchair, and has given her the ability to explore the world around her, all by herself. I am thankful for every teacher, caregiver, bus driver, paraprofessional, volunteer, and child that has accepted Ryder for who she is and treated her with compassion, respect and dignity. I am forever thankful for Dr. Franz and the neurology team who discovered her diagnosis and have been such a large part of changing the course of Ryder’s life. They always answered my calls and treated our family as a part of the team.
Especially Thankful for Ryder
I am thankful for Ryder, the biggest part of my heart. Without her, I would not be who I am today. She changed the course of our lives and everyone around her. She shows us what life is truly about. I am thankful that I get to experience her growing up, annoying her brother and experiencing all that life has to offer. She wakes up every day with joy and laughter and teaches us to never take life too seriously. I am thankful she fought through every seizure and that she chose to stay here with us, living and breathing in the glory of each new day. Grateful we have been able to provide her a life where she only knows happiness, despite all the obstacles she has faced. I am so thankful I am her mom, and for every moment I have with her in this life.
Think of you often Meghan and continue to wish you, Matt, Ryder and Gunner all the best! You are an inspiration to many in this wonderful life we all have been given whether it is easy, complicated, challenging or indifferent. Love you and your beautiful family to the moon and back! Aunt Debbie