March 1, 2006, our third child, Emma Elizabeth was born. She was born on her due date, a normal baby girl, and our biggest at 8.3 pounds! She grew and developed normally and had the cutest personality. Emma loved chasing her brother and sister and would stand at the bottom of the stairs on the “safe” side of the baby gate and holler for them if they weren’t downstairs playing with her. She climbed like a mountain climber, feared little of nothing and ran around the house all day opening cabinets and getting into everything. She wore me smooth out most days. She loved to clap, sing the “Itsy, Bitsy Spider” and “Twinkle, Little Star,” and loved to run up to her daddy at the end of the day when he returned home from work. Emma gave great hugs. Around the end of 2007 though, we began realizing she wasn’t responding to us when we called her. She was also beginning to fall a lot and was clumsier than normal. She had an independent and spunky personality, so part of us thought the lack of response was due to that. However, she literally only had a couple of words and was not communicating as a normal two year old should. After calling the pediatrician and discussing these things, we were sent for a hearing test.
I would like to add as a side note that it is important to be an advocate for your child. You, not the doctors, are the one who is with your child all of the time, and you are the one who knows when something isn’t quite right. Follow your God-given instincts, and follow through, even if you’re told there’s nothing wrong. Keep insisting on tests, or whatever it may be, to help figure out what the problem is with your child.So, we were sent for the hearing test, and Emma responded as a 4 month old! We were told she had fluid on her middle ear and needed tubes. The ear doctor felt certain Emma would begin speaking soon after having the ear tube surgery, but also suggested she may have other developmental delays and recommended an evaluation with Early Childhood Intervention.
Early Childhood Intervention (ECI) is a program provided by the State of Texas. It’s called different things in different states, but from what I understand, just about every state has a program similar to ECI. They will come to your home and evaluate your child’s developmental milestones. This evaluation service is provided free of charge, regardless of income. After the evaluation, if the therapists determine your child is eligible for their services, there is a charge on a sliding scale based upon your income. The things we learn! So, ECI came to the house and evaluated her. We were mainly interested in speech therapy, of course. After their evaluation of Emma, they informed us she was developmentally about a year behind but encouraged us that she would receive the therapy she needed to catch up. There was a lot of praying and searching for a speech therapist at that point, because ECI had a waiting list for speech services. There are so many needy children out there! (If you’re looking for a career or career change, speech therapy, physical therapy, or occupational therapy are great fields and in very high demand.) God finally provided the perfect fit for our little one through Michelle, her speech therapist. Emma also later qualified for developmental services, physical therapy, occupational therapy and vision services. Emma loved her therapists even when they made her work harder than she wanted. We were so blessed to have had so many therapists who loved Emma and provided the best care possible for our little angel. Unfortunately, the temporary hearing loss was not related to Emma's eventual diagnosis. How I wish the tubes and speech therapy would have been what Emma needed to get her on the right track.
A couple of months later, we noticed Emma was having what seemed like seizures. In April 2008, we took her to Texas Children’s Hospital, where we met with the neurology team. After their evaluation and hearing Emma’s history, they informed us they thought she probably had some form of Autism or Rett Syndrome. We would do an MRI and chromosome testing to confirm. Of course we were devastated by this news, and cried out to God along with several friends and family for her healing. God met us where we were and provided what we needed, mainly calm and sanity, as we waited for the results. The neurologist called at the end of May and informed us all the chromosome tests came back negative! We praised God, but still had questions and were confused as to why she was not progressing, but rather continuing to regress. At this point she was having in excess of 50 seizures a day and losing more developmental milestones.
In June, we saw the neurologist again. He noted her decline since he had seen her in April, and referred Emma to a pediatric ophthalmologist. He was concerned about her vision. The ophthalmologist looked at Emma’s eyes and determined there was some sort of irregularity with her retina with some retinal dystrophy and referred us to a retinal and ocular genetics specialist. Later that same day the neurologist called to inform us he had seen the ophthalmologist’s notes and wanted us to know of a diagnosis he thought we were probably facing but needed genetic testing to confirm. He said it seemed Emma had a rare degenerative genetic disease known as Neuronal Ceroid Lipofuscinoses (NCL), also known as Batten Disease. We asked for a recommendation for a reliable website to research what in the world NCL was. We found that this disease is characterized by progressive mental and motor deterioration, seizures, blindness by age 4, and early death usually around 5-8 years of age or younger for the type the doctor was concerned about. There is no cure. Usually the child is completely normal from birth to about 6-18 months, when literally, out of the blue, the disease becomes active and takes over. What?! Both parents have to have the defective gene in order for the child to be affected. Wow, what are the odds? Something like 1 in 800,000 actually. Why? I don’t understand. This is unbelievable. How does someone wrap his mind around such a terrible thing? Only the grace of God kept us from falling to pieces. Of course we prayed and begged God to spare Emma from such a terrifying disease. At the same time we understood her symptoms matched exactly with the descriptions we read.
The neurologist called in July to let us know the genetic testing was complete and confirmed that Emma had Infantile NCL, the most aggressive form of the disease. I thought I would die that day. All I could do was bury my head in my hands and cry. Even though I knew prior to his call what the doctor had just relayed to us was a very good possibility, I hoped and prayed he would call and say the tests were negative and Emma had something we could fix. But God is so much bigger than we can even imagine, and he had the power to heal Emma. We prayed that our faith was big enough to believe He could. We also knew a different path may await our precious baby girl and prayed God would give us the strength to glorify and praise Him no matter the circumstance. Emma fought a valiant fight. She ran an excellent race. Her short little life impacted the lives of many. We are forever changed because of knowing and loving her. She crossed over to new life receiving a disease free and perfect body on February 1, 2010, one month shy of her 4th birthday.
We can’t imagine going through a storm such as this without the grace of God. Knowing that He loves us and cares about what hurts us makes such a difference. God does not wish for bad things to happen to us. Kelvin and I understand that when sin entered the world it became broken, and many bad things came with it. God is gracious enough to weave these things back into His perfect plan in the best possible way. Our complete trust is in God.
God doesn’t say we have to praise Him for the storms; He just says to praise Him in the storms. Just as the Casting Crowns song states,
I'll praise you in this storm and I will lift my hands for You are who You are no matter where I am and every tear I've cried You hold in your hand You never left my side and though my heart is torn I will praise You in this storm.
Through every step of this journey we had the strength and support of our friends, family and our extended church family. They prayed when we didn’t have the words. They loved us deeper than we could have ever imagined. They fed us dinner, cleaned our home, and mowed our yard. Anonymous friends allowed Emma to meet Cinderella at her castle. We have seen the hands and feet of God. Please continue to lift us up to the throne of grace as we struggle in this life without Emma, finding our new normal.
You can read more about Emma here.