Rachael's Medical Needs

My daughter Rachael suddenly fell ill when she was just 15 years old.    
It started with eczema that covered most of her body. Extreme joint pain soon followed and she became bedridden in just a few days. For six long years we struggled to get a diagnosis. Where as ignorant doctors dismissed her symptoms as if she had made them up, even the most experienced doctors at Mayo Clinic couldn’t figure it out. All the while Rachael suffered as her condition deteriorated. We began to lose hope that we may ever find answers. And I worried what would become of my daughter.
Through tests taken at a genetic research clinic we finally discovered in 2012 that Rachael has an incurable genetic mitochondrial disorder that only a handful of people in the world have. Essentially, the cells in her body are unable to generate enough energy from any food that she eats. As a result, all the major organ systems in her body are slowly failing. Her gastrointestinal tract has already become  non-functional, meaning she has to be pump-fed a nutrient solution 16 hours each day through a tube that goes directly into her veins. For hydration she is transfused with an additional four liters of saline. Although she has not consumed anything by mouth for a few years now, she continues to suffer from chronic vomiting of bile several times a day. She has lost all her muscle mass, weighing now a worrisome 95 pounds for a woman of 5 ft 6 in. As if this weren’t enough of a burden to bear, there is more.
Rachael’s eyesight and nervous system have also taken immense tolls. Without her glasses she is legally blind, and she currently has peripheral neuropathy in more than 80% of her body, which causes such widespread severe pain at all times that she is connected to a second pump that periodically administers pain medicine. As frail as she is, Rachael can hardly walk on her own, much less with two pumps weighing her down. Her only trips away from home are in a wheelchair I push to doctor appointments, hospital ERs, and very rarely short visits to see relatives.
As you can imagine, the treatments for such a rare disorder as Rachael’s is extremely costly. While most of her medical expenses are covered by insurance, the supplies she needs to keep herself and our home sterile are not. We spend $37 dollars every day on alcohol pads and gauze, but it’s not always enough, as she has still been to the ER more than five times in the past two years with life-threatening blood infections caused by normal bacteria found on skin. Each time she comes home from the hospital, she is thinner and weaker. And each time I fear she may have lost the strength to fight the next infection.

Rachael’s doctors have told us that her disease has progressed into its final stages. How long that means she has we don’t know. It terrifies me and grieves me beyond words. Rachael has always been a fighter. Before she was ill, she was an avid swimmer known for her endurance in the water. When she became ill, she had to give up her passion. But Rachael wanted to be the best she could still be, so she refused to let her illness stop her from finishing high school. She started schooling from home and graduated with a 4.0 GPA. She even pushed herself to attend college for a semester, maintaining her 4.0, until her condition worsened, forcing her into fulltime bedrest care.

Rachael has missed out on nearly every experience the rest of us get. When so many of us would have given up, Rachael continues to fight every single day. But her days are getting shorter. She sleeps off and on about 14 hours a day. When she’s awake, she’s still so tired and weak that she can barely speak. And now it’s harder than ever for her to engage in anything she can enjoy. For a while she would bake for fun, even though she couldn’t eat any of the food. When she couldn’t do that anymore, she colored and played with her dog. Now she’s lost too much feeling and control in her hands that she can’t even do much of those things anymore.
Even still Rachael clings on to life, telling me she’s not ready to go. It breaks my heart to watch helplessly as my daughter wastes away before me. I cannot save her. I cannot give her any semblance of what we would consider a life. And now I cannot even financially provide enough for her to be comfortable during the time she has left. Our family has just declared bankruptcy because of the overwhelming medical bills – something that would never have happenedwere I not a liver transplant patient disabled by autoimmune disease, or Rachael’s father were not bipolar and could find steady work. But our reality is hardship: just this month we’ve been evicted from Rachael’s childhood home.

What Rachael needs most, though, are simple necessities: an automatic hospital bed that she can operate on her own; a car big enough for a wheelchair that can take her to and from doctor appointments (since we had to sell our car before declaring bankruptcy); and money for alcohol pads and gauze to sterilize her skin. Without help, I don’t how I can give Rachael any reasonable quality of life.

Sometimes Rachael feels that fate has forsaken her, but your good fortune can make a difference; it can show Rachael that although she is secluded by her illness, humanity has not forgotten her, and she is not alone. Anyhelp you can give would be greatly appreciated.Rachael battling her most recent blood infection, July 2016.

Thank you,
Karen Miller




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