Grace

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 then others. And she did.


I was told she had hypotonia which is low muscle tone. With a lot of hard work, she walked at a 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 trainin, 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 Supra ventricular 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. Which bring us to today. 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 are still present from time to time. We are working on that, along with chronic illness and a recent diagnosis of cystitis of the bladder. Grace has recently had some leg pain which also stems from Hypotonia. We now see orthopedics and physical therapy.

 

Although, this has been a hard journey, I have to say my Grace is one of the happiest, and most loving children you could meet. She is so strong, her strength and happiness keep me going everyday. We have made some wonderful Tiny Superhero friends with their own journeys, who are truly amazing. And recently discovered CureGrin and GRIN2A support groups, with friends sharing very similar journeys. 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 Gracie:  Keep staying strong, keep being you, and mommy 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.