Kate, born healthy, happy & full of life, is a true gift from God. She entered this world on 9/ 9/06, 5 days past her due date. From day 1 she was very demanding & inpatient, something am sure she inherited from her mom. We learned quickly to respond to her cries immediately because she didn’t give a lot of advanced notice when it came to her desire to be fed, rocked, or played with. It was love at first sight for her big sister, Lauren. As an infant she met all of her milestones.
Kate lived by her own rules. Authority meant nothing to her, for this reason we were always on our toes, trying to stay 1 step in front of her. If we let our guard down, we would be reminded by drawings on the wall, torn books, or broken toys why we had to outwit her. We jokingly called her “Kate the Destroyer.” Fortunately for Kate she knew how to use her personality & smile to keep herself out of trouble. The minute she sensed she was in trouble, she would smile & do something silly. When someone says “she has a smile that lights up a room”, they are describing Kate!
When I thought about Kate’s future, I pictured her being a leader, well liked, an entertainer among her friends & classmates & athletic, although I don’t know where she would have obtained the ability since her parents lacked any & all athletic DNA. How quickly our dreams for Kate’s future changed on 6/22/10!
On 12/18/09, we noticed Kate was having difficulties walking. She would try to pick up her leg, it appeared to lock up on her & she would fall. For a few months we had noticed that she was falling a lot when walking, but we thought her legs were just not able to keep up w/ her feet since she felt it necessary to run everywhere, rather than walk. We took her to see our family doctor who assured us she was fine & probably had an inner ear infection, thus causing her to be off balance. We treated her with a round of antibiotics. After several days on the medicine her walking had not improved as much as we had hoped, so we returned to the doctor for another evaluation. My gut said “this is much bigger than an ear infection.” The doctor was not convinced that anything was wrong, but referred us to an orthopedic doctor. Our doctor also asked us to get some blood work done, which could be done in the lab across the hall from the doctor’s office. While we were waiting for the phlebotomist, Kate had her first seizure that we are aware of. I remember the moment like it was yesterday – her stance, the clicking noise in her throat, her blue lips, & her inability to respond to my voice but mostly the panic that filled me & the room. This is the visit that confirmed we were dealing with something horrific.
In January we saw a neurologist, who ran some test, including an EEG. Kate was diagnosed with epilepsy. We were sad but took comfort in the fact that we could likely control her seizures with medicine, she would outgrow it as her father had & she would live a normal life. This comfort was quickly taken away when her seizure medicine did not improve her condition. Her walking was not improving, her seizures were not controlled, & she seemed to be losing some of her milestones. Kate’s stuttering was also getting worse. We thought her stuttering was due to her inability to talk as fast as she thought. Her vocabulary, thanks to Lauren, was amazing & speech was clear. For these reasons we returned to the neurologist. Over the next several months we tried several different anti-seizure meds with no success. We watched in horror Kate developed tremors in her arms & legs, was unable to walk from her bedroom to our living room without falling & was struggling to remember what words meant, such as yes vs. no, etc. We became forceful with the neurologist & demanded further testing, stating the seizures were a symptom of something greater. As we prepared for each test I would pray, don’t let it be this, don’t let it be that. Now I look back & wish it would have been one of those things. On 6/22/10 we finally received the diagnosis.
Batten disease! Specifically Late Infantile Batten Disease. I had never heard of it. As the doctor described the disease, the progression & Kate’s fate, I felt nauseous. How can this be? Surely the results are wrong! How do I tell my husband? How do we tell Lauren? How do we save Kate? The first 2 weeks after the diagnosis are a blur. The days were filled with anxiety, the inability to see how we could go on living life, doing all the mundane things like grocery shopping, & tears. Eventually we had to pick ourselves off the ground & try to live life, creating precious memories, & giving Kate the best the world had to offer her.
To date she has lost the ability to walk, talk, feed herself & is no longer potty trained. She once loved to play with baby dolls, dress-up cloths, puzzles & her kitchen set. Now, at the age of 4, she plays with toys designed for 6 months & up, such as a ring stacker. The tremors in her arms & legs make it hard for her sit still. Her seizures are not well controlled. The things she once knew, such as colors, shapes, etc. she no longer recognizes. Sleep, oh sleep; something that comes so easy for most is challenge for Kate due to her seizures & restless leg syndrome, another wonderful side effect of the disease.
March 1, 2011 Kate participated in a clinical trial to assist researchers who are trying to understand, treat & cure Batten disease. The doctors injected synthetic gene into her brain & are monitoring her progression to see how her brain reacts to the venom.
While the future looks dim, there is joy in today & the future. Kate is, for the most part, happy. She smiles often & it still lights up the room & our hearts. She gets excited when she sees Dora the Explorer. She giggles when her sister pretends to sneeze dramatically. She has changed how we define happiness & quality of life. She has taught us what unconditional love truly means. We believe in miracles & healing – healings not known or understood by man. We pray that God blesses us w/ a miracle but trust His plan over our own. While this journey is hard, heart breaking & exhausting, we stay focused on Him.
Thank you to all who have supported & prayed for us.
What is Batten Disease? It is a rare disease, affecting 500 children in the U.S. & 1200 worldwide. Batten disease is an inherited disorder of the nervous system that usually manifests itself in childhood.
Early symptoms usually appear in childhood when parents or doctors may notice a child begin to develop vision problems or seizures. In some cases the early signs are subtle, taking the form of personality & behavior changes, slow learning, & clumsiness or stumbling.
Over time, affected children suffer mental impairment, worsening seizures, & progressive loss of sight & motor skills. Children become totally disabled & eventually die.
Batten disease is not contagious nor, at this time, preventable. To date there is no treatment & it is always fatal.
There are 4 main types of Batten, including a very rare form that affects adults. The symptoms of all types are similar but they become apparent at different ages & progress at different rates.
Kate has Late infantile which typically begins between ages 2 & 4. The typical early signs are loss of muscle co-ordination & seizures that do not respond to anticonvulsant drugs. This form progresses fairly rapidly & children live to between the ages 6 & 12.