Jera’s Story

18818335_10154750699344366_1698829546_oJera lives with her mother and father, her sister and brother, and her grandfather. At the time of her birth, I was a nanny for 3 and homeschooled my own two children. Not particularly religious, we are a very spiritual family and since my husband works from home, we are together all the time, making us a very close and connected family.

When Jera was born, the youngest of three, she was the calmest sleepiest baby I had. She was what the lactation consultants called a “lazy suck” meaning that she would suck and pull off and suck and pull off. They said she didn’t want to work for the milk. But they were wrong.

At 3 weeks and 7 weeks, Jera had an “episode”. While carrying her in her carrier, she suddenly moved all her extremities, but each in a different direction. I called the doctor because after nearly 20 years of nannying, I had never encountered this. The doctor said to document what I saw and that she thought these “episodes” were just a startle response. At 12 weeks, there was one more episode, this time the limbs moved in unison but only for like 10 seconds. The doctor questioned what was happening before and after and said she didn’t believe these were seizures but if I thought they were, we should not give the DTaP vaccine as this would amplify them. Not knowing anything about seizures, I went with the doctors opinion, gave the DTaP and held my breath.

Within the week we were having daily seizures that were clearly identifiable and by two weeks, they wouldn’t stop and we went to the ER. Countless tests and a spinal tap later ruled out a bunch of scary things, but gave no answers. We lived in the hospital for a week while we got the seizures under control with meds. We were referred to a neurologist, whom we would later fire for acting like we were idiots and he was God. We ended up with the kindest neurologist down at Kennedy Kreiger Institute. We also ended up in the Infant and Toddler program of Carroll County.

18870577_10154750695984366_1038685211_oOver the next few months, we acquired a Neurologist, an Orthopedist, a Neurodevelopmental pediatrician, a Geneticist, a PT, OT, Vision Specialist, and a nurse. To say we were overwhelmed would be an understatement. I had therapists and nurses in my home 3-4 days a week and was still homeschooling my then 6 and 8 year old. And the tests with no answers. So many tests!!! Each time they would call with a negative answer I would cry in relief. But the not knowing the cause was frustrating.

Then at 6 months we noticed Jera losing weight. We brought in a feeding specialist and came to realize that Jera’s muscle tone was so low, she was starving herself at the breast. So I pumped and fortified with a homemade goats milk formula. We fed her with a cleft palette nurser, laying her on her back and squeezing the bottle in her mouth and hoping she didn’t throw up AGAIN. Off to a new doctor, GI, to discover she had GURDS and also a nutritionist to help develop a plan to stop her weight loss. Swallow studies showed that all systems were normal and there was no REASON she shouldn’t be eating and growing and yet, she was slowly refusing more and more to eat.

This was our first two years of life with Jera….doctors, therapists, tears, and exhaustion. And all the while making sure our other children didn’t feel neglected or forgotten. Our rock bottom came when Jera finally REFUSED to eat anymore. She screamed in panic when she saw her highchair because she knew it meant more force feeding, being held down, etc. and we had to make the heart wrenching decision to put in a Gtube. Once again we lived at the hospital for a week. I have to say that all hospital staff were kind and we were grateful. I stayed there while my husband stayed at home with our older children or they stayed with Grandma. We are so blessed to have a lot of family support close by.

After getting Jera’s Gtube, we began to see improvements. Suddenly her brain didn’t need to starve as her body weight dwindled. Suddenly her old smiles returned and her development even progressed some. Still no answers but no new horrors either. Gradually we were able to go back to the highchair for play and social time as the family ate and very slowly we reintroduced oral feeds, though Jera to this day will refuse after about a table spoon or so of pureed food. We later learned about sensory integration and this explained not wanting to eat or be touched in ways most children find comforting.

We gradually fell into a holding pattern. Doctors every 6 months for follow ups…at 3 Jera aged out of the infants and toddler program and began attending school where she received her PT, OT, Vision therapy, speech therapy, feeding therapy, and specialized education. At last we stopped having therapists in our home all week, which felt lonely at first, but also a relief. Our new “normal” if you will.

At 4, we were told at the geneticists that there was nothing new for them to test for and that if anything came up, they would contact us. At this point, Jera had slipped mostly from our world and though happy, didn’t make eye contact, stimmed a lot, and we just loved her the best we could, the best she would let us.

18838431_10154750698664366_1927871444_oAt 5, our Neurologist told us he wondered if it was Mitochondrial related and wanted to try a cocktail that was experimental. We agreed and added it to our list of meds. Within 3 months, we noticed subtle differences. Jera suddenly began smiling when we came in the room, actually looking at us, reaching for toys instead of just watching them. All these differences brought her back to our world and we were ecstatic. We thought we had found the answer. Then came a new geneticist that worked with Kennedy Krieger asking if we wanted to try this new thing, Whole Exxome Sequencing. We said yes and the results came back with more things to rule out, the news that this was a mutation and not something we passed on to her, and things like that…but still no ANSWERS. At 7 we got a call from this geneticist saying that there was something else that the company wanted to look at with Jera’s sequencing and would we allow it? Our response was sure even though we didn’t expect anything new.

Then came the call that they had answers for us. That Jera’s mutation was a DNM1 mutation but that she was only 1 of 15 know in the world. Jera was 8 I believe when we found this out. There was no cure, no plan of action other than what we were doing, but at last we had SOMETHING conclusive. This was not a death sentence, this was just a way of life. Since then we have learned of dozens of others with the same or similar mutations. And though there is no cure, it is wonderful to have a community of folks who KNOW where we’ve been and might have tried things we have not, or that we can offer suggestions to based on our successes with things.

Jera is now 9 years old and on two meds for seizures, one for GURDS, her cocktail, iron, and fluoride. She is solely growing on a blended diet that I make and put through her gtube. She tastes food for stimulation but not nourishment. Jera is non ambulatory but walks with assistance and uses a gait trainer and a wheelchair. Jera is non verbal and uses a PODD system for some communication and some vocalizations for some as well. She is a social child who wants to be included in all we do. She loves pink and cats and hearing the chipmunks sing. She is in 4th grade with a beginning preschool intellect. She has a wicked sense of humor and is potty trained for bowels but not bladder. She is happy and joyful and such a patient child. She has taught us so much about patience, and acceptance, and what is important in life and what really is not so important. So that is our story…for now


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