February 2020
"My name is Alexis and I am a 28-year-old mother of 3 fabulous kids.
My children are age 6, 2 and 4 months, and have been my world since I became a mother. Like most mothers I have so many dreams and aspirations for my children. It was on December 4th, 2019 that my whole world was flipped upside down and I felt all the dreams I had for my children had been crushed.
Before I can tell you what our life has turned into, I must start from the beginning.
Anya had challenges even before PKAN. I feel this disease has been stealing my little girls’ functions bit by bit.
Around the time Anya turned 1 year old I felt something may have been wrong, she wasn’t meeting milestones most 1-year old's do. She didn’t walk until almost 3 and even then, was extremely clumsy. She would fall down so much and for no particular reason at all and she couldn’t run or jump like other children her age. She received therapy and wore braces on her legs and feet, but it didn’t seem to improve much. It wasn't until we moved from Chicago to Indiana and I was able to procure her more therapy services that I began to see improvement in Anya. Once in Indiana I had opportunity to collaborate with our local school to ensure a safe learning environment that accommodated her special needs, they provided her with a chair with a belt so she wouldn’t slip out and a para person who accompanied Anya everywhere in the building. After my daughter got acclimated to her new school setting, she began to excel and even her teacher commented on the improvement she was exhibiting. Anya was working so hard and was excited to learn and improve.
I had just got home from having her new baby brother( mid-November) when I noticed something was not quite right with Anya. Her speech had become slurred, she was unsteady on her feet, and her movements seemed involuntary. I began taking my daughter with my newborn and 2-year-old in tow, to various Dr.'s and specialist looking for answers they all told me my daughter was fine. I would go home every time feeling defeated and helpless. The stress of a sick child that you’re not sure how to help compounded by having a 2-year-old and a breast-feed newborn was more than I could bare. I thank GOD he gave me the strength to continue my search for answers. I started taking her to Emergency rooms in Indiana and Chicago and was turned away, told to take her home she is fine. Her rapid health decline and unusual behavior without explanation didn't seem "fine"... I was angry and upset and so confused, in my heart I knew this was not true, my daughter was not fine! Even though I was turned away a few times ( 3 total) I made one last effort and took her into Christ Advocate Hope Children’s Hospital in Oak Lawn, Illinois. Upon speaking with triage and informing them of our situation they admitted us right away. The doctors took no time in coming in to speak with me and to look at Anya. I anxiously waited with her newborn baby brother in tow for almost a week. They did a complete work up on her and discovered something called the eye of the tiger in her MRI which is how they figured out what was happening to her.
On that cold December day Anya was diagnosed with a Neuro Degenerative brain disease called Classical Pantothenate Kinase-Associated Neuro Degeneration or for short PKAN.
Classic PKAN is a rare, genetic inherited neurological movement disorder characterized by the progressive degeneration of specific regions in the central nervous system. These features can result in clumsiness, gait walking problems, difficulty controlling movement, and speech problems( all of which she had already had symptoms of )
My daughter went from walking, eating, going potty , bathing, playing & just doing everything normal kids do to not being able to walk , sit up, or feed herself. Her speech has declined, she is unable to do simple activities or functions without help.
We have a new reality now.
Anya experiences dystonia, (sustained muscle contractions causing repetitive movements), dysarthria (abnormal speech), muscular rigidity, poor balance, and spasticity (sudden involuntary muscle spasms). She’s currently on 3 different medications to manage her symptoms all of which have nasty little side effects that we do our best to cope with.
Despite all of this and more Anya starts each day with a smile and barely complains even though she is in a lot of pain and discomfort most of the day.
We are not going to give up hope or the fight against classical PKAN. I will follow my daughters fighting example and start each day with a smile and I will try not to complain because tomorrow is not promised, and positive energy and encouragement is what she needs from me."
