Sofia is a 6-year-old girl who developed typically and mostly on track except for a minor speech delay until 3.5 years old. Sofia had her first seizure a few months before her 4th birthday in 2019. Her seizure was a grand mal seizure and she had two more in the ambulance ride to the hospital. Because she had multiple seizures, she was diagnosed with epilepsy that year. We started her on a medication and assumed they would be controlled and she would carry on as a typical little girl to grow and develop “normally”. Unfortunately, that medication didn’t work which began a trial of several other medications and ultimately the addition of the medical ketogenic diet for epilepsy to get her seizures well controlled.
We wanted additional answers so we had an MRI done, which revealed Sofia did have changes to her brain’s white matter, and also some volume loss to her cerebellum. The changes to the white matter resulted in a diagnosis of an unknown Leukodystrophy.
Sofia began having trouble with walking, gross motor skills, cognitive ability and speech. We decided to have genetic testing done. After several months we received our answer, Sofia had a mutation in her eif2ak2 gene. We discovered there were under 15 other children in medical literature with this mutation, all with similar clinical features and neurological regression. Regression can be due to a multitude of things such as fever, illness, a bump to the head and other environmental stressors. The eif2ak2 gene is responsible for immune regulation. So, while we want Sofia to live her life to the fullest, we also have to be extra cautious of keeping her healthy and well.
We have enrolled Sofia in a research study for her gene variant at Baylor College of Medicine in Texas where they are researching her gene and how it effects the body on a cellular level. At this time there is no treatment or cure; only symptom management for our daughter.
Unfortunately, this last year we have watched her lose the ability to walk, talk, chew, swallow, sit up, hold her head up and more. Sofia has experienced several hospital stays due to return of seizures, dehydration, and a feeding tube surgery. At the moment she is happy and fairly content and we are focusing on bringing her as much joy as possible! Which leads us to this Christmas holiday!
Holidays can be very stressful and emotional for parents of a medically complex child. Long lines to visit Santa, crowded holiday events, trying to find toys your child will still enjoy when they can’t “play” with them anymore. We are very lucky to live in a wonderful community that has shown Sofia so much love and inclusion! Our local park has a special night with Santa, and a drive thru light display for special needs children. Another local family that has an enormous light display with over 2 million Christmas lights invited us on a personal tour of their property. A good friend who owns a Marketing company locally gave us VIP passes to a Polar Express event. A good family friend put on a Christmas themed fundraiser and raised over $3500 for our daughter’s medical expenses. We’ve had many friends and family and people we don’t even know personally send presents, donate medical equipment, send monetary donations, cards and more for Sofia!
So while the holidays are painful as we remember our daughter the way she once was, we are extremely grateful and overwhelmed with joy over the out pouring of love and inclusion for our girl. I would take a long line to see Santa accompanied by the obligatory melt down ANY DAY over our daughter suffering with this terminal disease… but that is not our journey. We are learning to embrace our new normal, take things day by day, and appreciate the TRUE meaning of Christmas. Spending quality time with family and loved ones. Even if it looks a little different this year.
Wishing everyone a Merry Christmas and Happy New Year!
Love, The Kales