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From Fearing to Living…
In January 2020, leaving an EEG table in St. Paul, MN with the words "seizure free", I began to live again.
These were the results we received for my 2yr old daughter who was diagnosed with Tuberous Sclerosis Complex (TSC) at 2 weeks of age. We did it! Two years was our mark, we just had to get there with no seizures.
Leading up to this point we lived in fear… fear of the unknown, fear of the worst-case scenario, fear of what kind of life Grace would lead. For two years we were in go mode. Managing our lives from appointment to appointment. Trying not to read too much on google (we all know what that does) and trying our hardest to keep Conor's (our older son) life as normal as possible with help from Nana and Papa.
At 24 weeks pregnant, we found out from a pediatric cardiologist that our baby girl had multiple tumors on her heart (rhabdomyomas). The most likely diagnosis was TSC which we came to learn was a genetic disorder that causes tumors to form in many different organs, primarily in the brain, eyes, heart, kidney, skin and lungs. The aspects of TSC that most strongly impact quality of life are generally associated with the brain: seizures, developmental delay, intellectual disability and autism. At this point our biggest fear was our baby surviving the delivery & if her heart would be ok.
Fast forward to January 2018 our wonderful little girl, Grace Rebecca, was born with lots of extra medical support by her side (though she needed none of it). She was perfect! She came out screaming and crying with a healthy heart! She was taken for an Echocardiogram within hours of delivery. We came to learn that these tests of Grace’s would be our new normal. She was born with resilience and strength. She inherently gave me her strength knowing I had to show up for her every day.
Caring for Grace was not a choice, it was our reality. And we were up for the challenge. At each step of the journey there were new milestones & testing that came our way. Between the ages of 2 weeks and 2 months she had undergone an EEG, meet with Genetics to confirm the diagnosis, meet with Dermatology to identify areas of her skins that lack pigment (hypomelanotic macules) and continued care under Cardiology to monitor her heart tumors.
We adjusted to life with two kids ages newborn and 2 years and a puppy age 2 (Scout). We got through cold and flu season and kept Grace healthy!
At 3 months we were presented an opportunity that I truly believe changed Grace’s life forever. We received a call from our Genetics team 1 week prior to me returning to work from maternity leave asking if we wanted to sign Grace up for a clinical trial called, PrEvent in Minnesota. At this point my husband and I had very limited knowledge of Grace’s disease and did not fully understand the impact this trial could have on Grace’s life. They said if we had any questions, they would put us in contact with the head of the study from University of Alabama Birmingham. We took them up on their offer and she called us within 6 hours. We learned this was a trial to prevent children with TSC from having seizures by monitoring them via EEG to see if there is abnormal activity. If the abnormal activity appeared the child would be randomized; 50% would get a drug (Sabril not currently approved to used as a preventative) and the other 50% would get a placebo. We asked, “what’s the catch”, “how much with this cost us”? Her response; nothing! This trial will pay for travel, EEG, Dr. Visits, Eye Exams, medicine, developmental testing & genetic testing. All they needed from us was time! April 17th (1 week later) we got in the car and drove to St. Paul. There was no doubt this would be the best thing for Grace.
At her first visit her EEG showed abnormal activity and she was randomized. From that moment on she took a powder medicine mixed with water twice a day. Now getting a 3-month-old all the way to 2-year-old to take meds via syringe 2x a day was its own challenge. It felt very much like a science experiment testing and learning and find ways to trick a baby/toddler!
We continued our visits to St. Paul at a regular cadence. In April 2019 we got news that Grace had her first normal EEG. In our heart we knew she was on the meds. She was developing and meeting her milestones and now a normal EEG, this was fabulous after over a year of abnormal scans.
Then in January 2020 at her 2-year visit to St Paul, we were told it was time to wean her off the trial medicine. After 2 years of being seizure free it was like they took our crutch. I was anxious and scared, the what-if game was constantly playing. I had a rectal shot ready for if/when a seizure would appear.
On the 2nd to last day of our med wean our fear became a reality, Grace had her first seizure on a cot at daycare. She convulsed, her eyes went back in her head and we were not there. This killed me. My little girl was broken. Epilepsy was our new norm. We called St. Paul and within 24 hours had her on a standard seizure drug to treat children 2 and older. The adjustment period for her body was brutal. There were acts of rage, insomnia, no eating. I worried would I ever see my sweet Grace laugh and cuddle again. Day 5 into the new medicine it was like a light switched on. Grace was back. She was tolerating her medicine and back to her joyful self.
Since this seizure in February 2020, she has had no other issues and is stable in all areas of her TSC. Heart tumors are shrinking, Brain tumors are stable for 2 consecutive years, she is at or above on all milestones for a 2-year, she does not have signs of autism.
Grace is not only surviving, she is thriving! 2020 has been a hard year for many but NOT for Grace. She is a miracle baby exceeding everyone’s expectations. We have become closer as a family relying heavily on our village to care for Conor and Scout when we devote our time to Grace’s appointments. My husband and I have become a better team having to listen to the Dr’s, advocate for Grace and administer daily meds. We are better together because of Grace. Her disease is not a disability it is a piece of Grace which, very much like her, is unique!
My mindset shift from fearing to what the next appointment will bring has transitioned to believing. Believing that everything will be ok. We will get through each step like we have in the past. Over the last three years I have been tested as a mom, wife, caretaker, advocate, sister, employee. I have proven that I can handle the challenges and will continue to do so. Giving up is not an option. The TSC motto is “We will Give Everything but Up”. That has allowed me to start living without fear!