Happily pregnant, we were adding a baby girl to our family; our toddler son embraced his sister as well as his role of big brother! We were about to add pink to the blue in our home!
Amanda was born on a Friday the 13th, it was GOOD Friday, and we brought her home on Easter Sunday.
She was by all counts a “good baby”, we were aware of our blessings; life took on a comfortable and predictable pace. Our son began pre-school and I had another baby in my arms, life was good.
When Amanda was around 7 months old I returned to work part time, we had arranged for a friend and neighbor to come in to the home to care for our children. Amanda had begun to walk about at the age of 8 months, touching things along the way for support but also taking steps all on her own!!! Early walker! One morning while at work I received a call from Kathy, our friend/neighbor and child care provider. She asked me to come home, saying Amanda wasn’t feeling well; telling me to remain calm, she thought Amanda had a seizure. I did remain calm on the short drive home; Kathy explained that her children had convulsions when very young, with fever. I phoned the doctor, explaining all that Kathy had said. The doctor asked how my baby was NOW, I said she seemed OK. He told me to sit tight, if anything happened I should call him back. The next morning while holding my baby her body suddenly stiffened, I made the call. When in the doctor’s office he was asking me if I knew how to get to Children’s Hospital in Boston, I knew we were not dealing with the flu.
Amanda is now 22 years old, our story is a long one, often painful to tell, painful for some to hear. The first day at the hospital they asked if I’d ever seen/witnessed a seizure, I honestly responded that I hadn’t…until NOW. We were sent home after several hours. They hadn’t witnessed any in the ER. We made the drive back to Boston in the middle of that same night, our baby was admitted. At 22 years of age there is a long history, too long to go in to here. I can tell you that at this time, what our daughter was going through was something the doctors hadn’t seen before. We are fortunate to live in an area with premiere hospitals and excellent doctors. Unfortunately her case was atypical and baffled them. My husband had reminded me over the years that the doctors were “practicing medicine”. Practicing, that is something I tried to keep in mind over the years as it seemed they were giving up on Amanda. I was frankly giving up on the medical community but NEVER on Amanda! Near seventeen years in and out of hospitals, the blue and pink I mentioned in the first paragraph soon took on a different meaning. I’d wait for Amanda to “pink up” after having turned blue…she’d stop breathing with the seizures! So many medications, they were running out of one’s to try when she’d have “break through” seizures. The side affects and effects haven’t been pretty. Once a doctor had told me that delays most always are there before seizures, he’s changed his mind. The photo’s of our Amanda over the years are a visual!
We finally had a “reason” for Amanda’s seizures, it has been three years since we learned of the PCDH19/EFMR. There is some comfort in having a reason, which is most where the comfort ends. The genetics clinic explained PCDH19 to me this way, simple and true. They said, you have a child who is healthy, developing normally, then between the ages of 6-36 months the first seizure comes in, and all hell breaks loose. THAT is a fitting description! Life was no longer comfortable or predictable. With a life that had been very isolating, now we have this group, a wonderful group, though I think I speak for all when I say we wish we were not members! I am happy to report that Amanda has now been seizure free for five years! We call our daughter Amazing Amanda, quite simply…she IS. Her strength and tenacity wows me, she is my HERO! My great hope is that the beautiful girls here will not have to go through 17 years or more of seizures, it is my greatest hope! You watch as your child’s life is being taken, days and weeks missed. As a parent it is true too that your life is taken away, or seems to be. You adjust/manage/survive! Your daughter gives you strength…and MORE. I have great hope, I dwell in possibilities. With help for research I think we can make this possible. We must.