Individual Spotlight: Ingrid
The DYNC1H1 Association is proud and grateful to be able to share stories of individuals affected by DYNC1H1-Related Disorders. We hope these stories can help bring awareness to the many experiences individuals with DYNC1H1-related disorders, build community, and help others feels less alone.
Ingrid's story is shared by her mother, Erin:
Ingrid is the youngest of 5 children. Below is our journey to getting her DYNC1H1 diagnosis.
We knew in utero that she would be born with clubfeet. Upon birth, we noticed a coloboma in her left eye. She was always low in weight for her age. She nursed like a champ, but would refuse a bottle or a binky when we would try to supplement to get her weight up. When she was 6 weeks old, she started casting to treat her clubfeet. She currently wears boots and bar (braces) on her feet at night and AFO's during the day. Around 5 months old, she started PT for torticollis and she started wearing a helmet. Around the same time, she was prescribed glasses for vision impairment. At 8 months old she started showing signs of seizure activity, specifically infantile spasms. After a visit to the Emergency room and doing an EEG test and a genetic epilepsy panel, she was diagnosed with DYNC1H1. Both her parents were also tested and it was determined her mutation was de novo. We weren't sure what to expect, but had a great neurologist to help us along. Because of her oral aversion, we opted for a medication given in the form of daily shots to treat her seizure symptoms. After a month of this treatment, her spasms returned and we also noticed she had developed cataracts in both eyes. During the cataract removal surgery for one of her eyes, while she was under anesthesia, she had another operation to install a g tube port in her stomach. This provided a reliable way for us to give her new medication to treat her seizures. She did not have artificial lenses put in her eyes as it was decided it may be better to wait until she was older. She has a very high prescription and her glasses are quite thick, but she doesn't seem to mind them and they've worked very well for our family. When she was 14 months old, she stopped nursing and is now solely g-tube fed. She still has no interest in eating by mouth, but we keep hoping that will change someday. She has a very strong gag reflex, so we definitely go at her pace when it comes to food (and toothbrushes) in her mouth.
She started receiving Early Intervention services for vision, feeding, physical therapy, occupational therapy, and speech. She also has low muscle tone and does not have great control of fine/gross motor skills. She does not crawl or walk unassisted at this point in time, but she continues to make progress at her own pace. She is such a good sport when she works hard at all her therapies. She has various pieces of medical equipment to help her progress. These include a stander, gait trainer, wheelchair and adaptive stroller. As she approaches her third birthday, we are in the process of transitioning from Early Intervention services to the local school district preschool services.
Ingrid loves music and her Kindermusik class. She also loves to watch the Laurie Berkner Band, as well as Elmo and Sesame Street. She likes to play with toys that light up or make sounds. She is also the light in our household. Even though it's exhausting to get her to all her appointments and ensure she is progressing with her daily therapies, she makes caring for her a joy. She is everyone's favorite and has the most generous attitude.
We didn't feel our family was complete until we had her and now we can't imagine life without her sweet spirit in our home.
