Make A Child Smile

Emily's Story
written by mom Natalie

Emily was born a healthy baby. She had severe colic, but met all her well-baby milestones and continued to thrive. By age 2, there were serious problems with sleep deprivation and behavioral issues. Being new parents, we assumed this was part of the “terrible two’s”. After seeing her “behavior” one day, my mother knew this was more than your average toddler issues. We took Emily to her pediatrician, Dr. Steven Alley to discuss the problems. She actually collapsed into his arms. She was hospitalized and given several tests. Neurologist, Dr. Ian Butler diagnosed her with a type of epilepsy called Nocturnal Seizures. We did not understand at the time that this was a life-changing diagnosis.

Emily was prescribed Tegretol and she was stable, but struggled each day to be “normal”. Emily’s seizure activity occurred during sleep/rest time. Therefore, we never actually saw her seizures, only the results of them (bizarre/violent/repetitive behavior, depression, exhaustion and chronic sleep deprivation). Because of the activity location on her brain (frontal/temporal) her behavior and the learning/language area were most affected.

In May of 2005, our daughter Rachel was born. Emily was thrilled to have a sister. Rachel was only 12 weeks old when our world fell apart.
In August 2005, something rare and horrible happened to Emily. She was in a state of constant seizures (status epilepticus) and suffered a movement disorder which caused her body to move almost 24 hours a day. Her brain was completely overheated and her body was experiencing all types of horrible problems. She was given over a dozen seizure medicines, steroid treatments, put into two separate pentobarb comas, on a feeding tube and life support. She had three brain surgeries. The main surgery, a corpus callosotomy, permanently separated the left and right side of her brain. Nothing helped. She was intubated in ICU for over 6 weeks and not expected to live. Dozens of folks were praying for our daughter. We knew the Lord was in control, but the pain and reality was so difficult. We were loosing our child. The ICU nurses grieved with us as she suffered and struggled.

As a final effort, neurologist, Dr. Pedro Mancias gave her a 5-day infusion of IVIG (immunoglobulins). By day 3, she began to show signs of the seizures slowing. A miracle! Once Emily was stable and off the life support machine, she was moved from the ICU to intermediate care. Finally, she was transported to HealthBridge Children’s Hospital. Her body suffered from withdrawals as she was weaned from several drugs. She had to learn to sit up, use her hands, feet, and to walk again. After two months, we were finally able to take our child home – we also took with us her wheelchair, feeding pump, diapers, cans of formula and a long list of medications. During this 6-month ordeal, Rachel was living with her maternal grandparents. It was like loosing both our children. Ken struggled to keep working. We took shifts at the hospital. We never left Emily alone, but our entire family was torn apart.

Finally the 4 of us were home again. We spent several months in out-patient rehab, several times/week. Emily was not able to speak or eat for almost 2 years. She had a g-tube in her stomach for food. We missed her voice so much. After 2 years, she said the word “ma” and then several more words came. She took a bite of mac & cheese one day. She eats now and we have removed the feeding tube. Her speech is still limited, but we continue to work with her. She can't read or write, but loves books and mail. Our dream is for her to read. She understands a lot and we are working to teach her.

In 2007, they put a port-a-cath in her chest. It was disastrous for a long time until I decided to access it. Now no more tears for any of us. In 2008, they implanted a Vagus Nerve Stimulator (VNS implant) in her chest. Emily has intractable epilepsy, which means nothing controls her seizures. It sends a “shock” to the vagus nerve in her neck and then to her brain for 30 seconds every minute. It takes 1-2 years to know if the VNS can help her.

In 2008, she was diagnosed with Mitochondrial Disease. It affects her brain. The last MRI showed changes that concern the doctors. They believe her disease may be progressing. Time will tell.

What happened in 2005 to disable her? Emily’s neurologist, Dr. Mary Kay Koenig believes the seizures managed to break down/open the natural barrier (blood brain barrier) and allow her immune system to attack her brain. This caused terrible things to happen to her body as her own immune system was trying to destroy her brain cells. Results were the encephalopathy and the horrible things that she suffers. The IVIG treatments are "calming/replacing" the "bad" part of her immune system while allowing the blood brain barrier to re-seal and close. The IVIG infusions are the key to saving Emily’s life. She has been receiving the infusions almost every 4 weeks since 2005.

In 2008, we weaned her off the IVIG to see if her own immune system could take over again. Emily deteriorated within 2 months. She is back on the IVIG infusions every 4 weeks. This crisis confirmed Emily’s autoimmune problem and how important the IVIG is to keeping her alive.

Today Emily is dependent on someone for help with the majority of her daily living and requires full-time supervision. It takes both parents to care for Emily. “Time-off” to refresh is not usually an option for us. It is nearly impossible to cook, clean, work, etc... because of the full-time attention Emily needs. Her condition is critical and complicated. Her patterns change constantly. Nothing is normal in our home. Every day is one continuous interruption, one surprise after another, one event after another. Nothing is smooth or predictable. No two days are alike. We make attempts at schedules, but have learned to accept that it is not meant to be most of the time. We have not just days or weeks of sleep deprivation but literally years of not sleeping through the night. Emily wakes 2-4 times every night.

Emily is sweet, loveable, caring and adores her sister. She has fair to good days, and very bad days. There is never really a “good” day. She just wants to be a kid and doesn’t realize she is fragile. She has no idea what seizures are or that she has them.

Emily has the two most deadly seizures – nocturnal and grand-mals. This puts her at the greatest risk for SUDEP – Sudden Unexpected Death in Epilepsy. The diagnosis alone of epilepsy makes her 10 times more likely to have SUDEP. She is also at great risk for depression. She will weep/cry at the waves of realization that she is not normal.

Emily was able to have her wish come true in February 2009 – we went to Disney World. Emily did fairly well on the trip. She did not have any grand-mal seizures during that week. A miracle! We were privileged to stay at Give Kids the World (www.gktw.org). The majority of her wish was granted by A Wish With Wings (www.awishwithwings.org).

Emily is wait-listed (2-5 yrs) to receive a seizure-alert service dog from Canine Assistants in Georgia. She loves animals and this would serve many purposes for her continued well-being (www.canineassistants.org).

Thank you for your prayers and concern for our family. We are humbled and grateful to all those who are interested in our child. We appreciate your prayers, gifts and donations.

(Story and Interests were last updated April, 2009)