Cystinosis

Part 1 of 2 My daughter, Laura was born with #Cystinosis . Laura went through so many struggles medically in her life. Laura was a firm believer in science, in the potential treatments to be found, in making life better for the next person, always happily being a guinea pig for any medical study that came along. She didn’t long for a cure, she longed to live the best life possible. #Cystinosis was just part of who she was, like being a 4’10 blondie.

In 2017 when Laura’s first #Transplant failed. She quickly began hemodialysis, and it was awful. Laura ended up with uncontrolled blood pressure which made her brain swell. For days, she couldn’t communicate other than to make the “Ma” sound. She was in this spastic body and you saw her fear and frustration in her eyes. She developed #Clostridiumdifficile while she was in the hospital and I quickly learned in the ICU they could not diaper her. Let me tell you it was amazingly gross; the poop literally flew. The #Spasticity that was happening added to the mess. She was scared, you could see it in her wild always open eyes, and she wanted to be touched every moment. We took turns sleeping in shifts so someone could have a hand on her 24/7. The doctors said she may need step down care, rehab type care which was so very scary. As she began regaining her mind and the swelling subsided I walked into her ICU room to see her on her knees on the bed singing “Despacito” at the top of her lungs swaying to her tune. Laura was coming back. It was decided that she would come to my house and live. She and her two dogs came to my house after this hospital stay. It was rough in the beginning. The dogs were wild and Laura was so very confused. She would wake up yelling for me not sure where she was, in some ways like a child. As she came back to herself, she told me when she couldn’t communicate she was in an episode of Modern Family, her mind took her away to another place that was safe from the pain. She could not drive at this time and I recruited people to give her rides to or from dialysis. Hemodialysis was rough. She would come home wiped out, legs cramping. She had minimal energy, sleeping tons, lots of headaches. We were taught to do peritoneal dialysis (PD). We went to classes and sat through days at clinic so SHE could take control of her healthcare. A new port put in and we found out that Dobby (her first transplanted kidney) was dead inside her and needed to come out immediately. She got through yet another surgery and she moved onto PD. She settled into the routine of 4 exchanges a day, every 6 hours, time windows for fun. She could have used the cycler machine at night but she worried how that would affect her dogs and her sleep. Laura valued her dogs and sleep way more than anything else.

Laura’s life over those few years was rough. She learned to have a clean car so she could do her exchanges as she chased adventure. And she did have adventures, she went to Miami and Los Angeles for festivals, to London and Ireland for two weeks and saw her beloved Harry Potter sets, Arizona, Philadelphia a couple of times, places that I can’t remember because she was always planning her next adventure. She adapted to her new reality which was what Laura was- adaptable. When life threw another curve ball and her foot was fractured and needed surgery. She adapted. Even as a child when she would constantly throw up, she accepted it, made it just something she did and moved on. She didn’t know the words, “You can’t do this” or maybe “you are just too sick or hurt”. Once she figured out how to make her life work around whatever obstacle she started making plans. The girl was a planner. We had so many plans, lists of places to go, people to see.

But, in October of 1999 Laura was hospitalized and this time was different. when I walked into the hospital room I knew she may not recover. This time might be the one she couldn’t overcome. As the days progressed, she could not even give a feeble thumbs up, her eyes were closed and minimally reactive. I started trying to adopt her bravery, I had to face that my girl may not be able to come home again. Laura didn’t like you to dwell in sadness, she wanted giggles and grins and that was what I needed to give her. On October 15th at 11:30am she left this world surrounded with laughter through tears and boundless love.

The best thing about Laura was she loved her people. She collected them like seashells, that, I like to think, she got from me. Once she made you part of her heart you resided there forever. And you were lucky. To be loved by Laura meant tons of laughs, singing at the top of your lungs barreling

Part 2 of 2 down a highway or at singo, being drug around whatever city as she checked things off her list, or you just being lost for the potential of what you may find. Laura lived, fully, completely, and fiercely and she accepted all with grace. She never wasted a moment waiting for the perfect time, NOW was the perfect time. She left us quickly, the amoeba that attacked her brain made her last days heartbreakingly silent. I was privileged to be with my girl when she burst into this world and as she quietly left. With Laura, I knew, that she was on loan. My logical brain knew that there was a high probability that I would outlive my precious squirrel, but no matter what the logical brain tells your heart, you always hope. It was an honor to be her mother, it was a privilege that I tried to live up to. I sometimes failed her, but she always forgave my shortcomings. I have no regrets in our #Relationships – she knew how great I thought she was. My heart is shattered. I know this sadness will always be in me because my girl is gone. She decided to go on her next adventure because that is what she believed death was- the next adventure, and I have no doubt she is having a blast wherever she is wandering.

My hope now is that we all live as she did. Love people, be kind, smile, and dance when you hear music.

It’s not goodbye after all.

I wrote this and read it at her memorial service, I kept trying to channel her spirit. I keep writing and I still feel like I cannot capture who she was- her spirit was so powerful. I never realized how much of my brain was wrapped around her. The double-edged sword of being the mom of someone who struggles to live their whole life is such a gift and a curse. The ebb and flow of life and love leaves you questioning so much of your existence. What matters? I have so many regrets for the years that I lived overwhelmed. I wasted so much precious time. Sadness taking over so much of my being, I gave up years of time to it. I allowed my fears and sorrow for what wasn’t, to take what I wanted the most- time. Funny how you have no clue what you are doing when you are in it. I think that would be my do over- to have those years when I struggled with even getting out of bed, the #Depression and fear clouding my mind. I guess the moral of all this is that drowning in perceived pain can steal the very thing you so wish you had. I had love but I was unable to see it, I had moments but I let sadness take over and gave that time away. That is a hard pill to swallow, but living in regret is no better. Living for now, even with pain in my heart, is better than wishing away what is beautiful today.

To encourage others living with #Cystinosis and their siblings reach for their dreams I have established the “Live Like Laura Fun Fund” in her memory with the #Cystinosis Research Network. My vision is to help people realize the what ifs, the if only, and help them have the great memories that adventures give us. Life, even when you are chronically ill, is to be lived. My hope is that I can help someone who may have forgotten how to dream and live a chance to find that joy again. That would make my girl happy.