When Grace was born, she had a lot of digestive issues. She was diagnosed with allergies to certain foods and ended up on a soy milk diet. We noticed that she started missing milestones at about 6 months. She could not sit until she was about 10 months old. She was unable to hold her bottle and her spoon. At the age of 18 months, she was still not walking and was referred to the infants and toddlers program for occupational and physical therapy. At age 2, we added speech therapy. Through all that she was unable to do, she was full of life and happiness. And Grace could do things, she just had to work harder than others. And she did.

I was told she had hypotonia which is low muscle tone. With a lot of hard work, she walked at two years old. She never crawled. She talked very little, a lot of wonderful Gracie gibberish. She eventually did begin to talk. We had a lot of difficulty with potty training, which we mastered at age 4. She began kindergarten at age 5. She had a lot of trouble learning, and focusing. At 5 and half, they told me she had ADHD and we were referred to University of MD. She had a lot of respiratory illnesses throughout the years that became more frequent at age 6. At the age of 7, Grace was continuously sick, from the months of October 2018 to January 2019, with respiratory infections. In January 2019, on a follow up sick visit, the pediatrician said she needed to do an EKG because her pulse rate was 166. She was diagnosed with tachycardia. We were referred to Hopkins Cardiology.

While we waited weeks for her cardiology appointment, I was phoned by her school. I was told Grace had what they thought was a seizure. We took Grace to the hospital and from there, we were referred to Hopkins Seizure Clinic. She had another seizure before her appointment on February 10. On February 19, Grace was given her first EEG by Johns Hopkins Pediatric Neurology. On that day, she was diagnosed with Epilepsy. From that date, and for a 2 month period, Grace had 26 seizures. Feeling very worried and confused, we began our journey, which Gracie always did with a smile and was so full of happiness.

Hopkins ended up referring us for genetic testing. The nurse practitioner said she felt there may be an explanation for all of Grace’s past and current history. In waiting for our genetics appointment, we had our cardiology appointment. Grace ended up in a month’s worth of heart monitors. She was diagnosed with a heart arrhythmia called Supraventricular Tachycardia, and it was discovered she had an Atrial Septal defect, a small hole in the heart. In April 2019, Grace had her genetics appointment. She was tested for several different genetic defects. One of which revealed, in August 2019, she had a GRIN2A variant. Her diagnosis of this GRIN2A disorder was inherited in a more severe nature in her case. It was a variant of GRIN2A that had never been documented in any books. So the information about it was still to be discovered.

I was told it is the cause of Grace’s Hypotonia, Epilepsy, developmental delay, intellectual disability, ADHD, and possibly even her heart condition. Through an IEP for learning in school, many doctors visits, and specialists, Kennedy Kreigers help to advocate, we learned a lot about Grace’s diagnosis. Seizures were still present from time to time. 

Moving forward.. Grace started homeschooling at age 10. She flourished and significantly improved her reading and Math levels during her homeschool. We went back  to Kennedy Kreiger to help us develop a learning plan to help Grace continue to move forward. At that time Grace was diagnosed with mild Autism and a Math disability called Dyscalculia. We developed a plan that worked great for Grace. She also started Taekwondo, which she loved. She started having ankle issues due to hypotonia, they also diagnosed her with scoliosis. She had several months of physical therapy. Grace’s curve was just shy of needing surgery. We were referred to The National Scoliosis Center, where a brace was designed for her. Grace had much discomfort in the brace as well as sensitivity issues, due to her sensory issues. Now on to age 12.. We started using Chiropractic care for the scoliosis and got fitted for orthotics, which has proved to be very helpful with the scoliosis and hypotonia. Grace also started having episodes of elevated heart rate and syncope. She was evaluated again by her cardiologist and diagnosed with POTS (Postural orthostatic tachycardia syndrome). To help control the POTS episodes we increase water intake and take sodium chloride tabs, which greatly helps. Grace stayed strong though, nothing stops her. Through all that, Grace spent two years in Taekwondo. She became a Super Brown belt, and received several medals and trophies. 

At age 13 Neurology wanted to see if Grace had outgrown her epilepsy, since she had been seizure free for 2 years.They started to wean her off her medication. We got to 5 mls on medication reduction and her seizures returned. We were again referred to the Epilepsy monitoring unit ayt Hopkins, where we spent 2 days on a video EEG. The results showed Grace having slow bursts and spikes, her medication was increased back up. She has been doing well on the seizure med again for the past month or so now. We are still hopeful that at some point she will outgrow her epilepsy.

Which brings us to today.. Grace still continues to progress in education with her homeschool. She also attends CoOp, she loves all her friends. She continues to handle everything thrown her way. Her strength gives me strength. This has been a hard journey at times, Grace always fights through it with a smile on her face. At age 13, she is an amazing and loving person.She is so strong, her strength and happiness keep me going everyday. We have also made some wonderful friends through CureGrin with their own journeys, who are truly amazing. Although it’s been difficult at times, there is no one else I’d rather take this path with than my Grace. Through tears, laughter, fun, and hard times, she is amazing. I love her to the moon and back.

For my Grace:  Keep staying strong, keep being you, and Mom will always be by your side. I know you can do anything you set your heart out to do. Grace may have a diagnosis of GRIN2A, but it doesn’t have her.