Tag Archives: hope

Rare Disease Day 2019

When we started this blog, we believed that today, February 28, 2019, would not come for Katherine.

We’d lost our first child from an early miscarriage. Then, we found ourselves shocked and shattered as we looked into the tear-filled eyes of neurologists telling us to, “Go home and love our daughter.” Our precious Rainbow Baby was slowly dying before our eyes.

As we pushed for answers to the cause of her neurodegenerative disease, we were utterly lost and terrified. Terrified of what they would find, terrified of the pain she might feel, terrified of watching her take her last breath and losing her forever. Amidst our fears, we had to find the strength to face these fears – strength I didn’t believe I had inside of me.

I remember sitting inside a pediatric surgery center and looking around the room into the eyes of a couple dozen frightened parents awaiting news. The look in their eyes still haunts me. I didn’t need a mirror to show me that I had the same terrified look in my eyes. I couldn’t breathe. I felt like I had nowhere to run to make it all go away. I wanted to wake up from this nightmare and go on with my life. All at once I was angry, confused, scared, and sad. I desperately wanted to believe it wasn’t true, but it was really happening. It was real and I could not stop it. Please, I pleaded with the universe, please make this stop. Why, I questioned? Why is life so unfair? My sweet, innocent daughter did not deserve this. It was an incredibly helpless feeling.

I had fallen into utter despair with no light to see me through it. In my very worst moment, I closed my eyes, quieted my thoughts, and had the most incredible vision:

Dave and I were walking on an empty beach. It was a beautiful beach with white sand, blue water, a gentle warm breeze was blowing in our hair and on our faces. We were smiling and content. Peace surrounded us. Ahead, Katherine wore a yellow swimsuit and played in the sand with her back to us. She was looking toward the water, but in my heart I knew she was happy and having fun. We were all together on that beach and we were happy. As we walked in the sand toward Katherine, it felt as though we were walking in paradise.

IMG_6937

This vision and feeling has and continues to sustain me through my darkest hours. I found my strength in my lowest place.

Thank you for reading our words and loving our daughter. Just a few short years ago we had little reason to hope that Katherine would live to see February 28, 2019. Yet today, Rare Disease Day 2019, was an average, normal day for us. Katherine got up, ate breakfast, and walked into school with the assistance of her walker and her aide. She asked me if I would paint her nails glittery pink before her tutoring session tonight. As she walked away, I looked back and smiled.

An average day is the most beautiful thing in the world. May you all find the joy in every glorious, average day of your life.

Advertisements

3 Things I Want To Tell the Mom Receiving A Rare Diagnosis

Today may feel like the hardest day of your life. Whether or not motherhood is something you planned and dreamed about, you likely fantasized about the life of the person you carried inside of you. Would she look like me and have red hair, enjoy gymnastics and cheerleading, have a great sense of humor, and/or become the first female president?

Whatever it is you imagined for your child, it probably was not a rare disease. Disease, struggle, and/or early death is not something anyone wants for their child.

1. It is OK to mourn the health and life you wanted for your child.

Doing so does not mean you love your child any less or make the statement that you don’t want a child with a disability. Of course you want your child to live a long, healthy life with as little struggle as possible. It is natural to grieve the life you wanted for your child and to do so unapologetically.

2. As this grief lessens, you will imagine a new life with your child.

My daughter is constantly inspiring me with her determination, strength and perseverance. I cannot even begin to imagine what is in store for her because she is my teacher. Before this diagnosis, I naturally viewed everything from my worldview; now I have the opportunity to see it from her perspective. She does not seem to feel sad or angry or disappointed about her disease. This is her life and the only life she knows. Allow your child to show you that a well-lived life isn’t always the way you imagined it.

3. Don’t let anyone define your child.

People will put your child in a box because that’s how information gets organized. Encourage others to think outside that box. It’s easy to put a label on somebody and file them away with other “stuff” we don’t understand. Your child deserves better, and if you don’t advocate for them then nobody will do it for you. Just as your child taught you your new worldview, share your new perspective with others.

Team Rare Disease

In many ways, I feel as though I have a good idea of what it entails to raise a future Olympian. The practices, the travel, the debt, the ups and downs, the feeling that you only get one shot at success, and the witnessing of a powerfully determined spirit.

Except my child isn’t competing to be the best in her sport; she wants to learn to walk with a gait trainer, and then have the strength and balance to take steps independently, and maybe, just maybe, twirl like a ballerina in her tutu.

I’ll never forget the first time a medical professional told me something may be wrong with my then two-year old. He said, “not all kids are athletes or Olympians, but they learn to compensate in other areas.” No doubt, this was an odd way of starting the conversation that my child needed to see a neurologist because she wasn’t walking independently, and nearly three years later,  I’m still shaking my head over his bedside manner.

What began as that awkward referral to a neurologist, turned into an eye-opening, emotionally draining  journey into the world of rare disease. A world where the tear-filled eyes of neurologists tell you they are 95% certain that your daughter is slowly dying of something they are unable to 100% diagnose; a world where science offers hope but at a high cost and without any guarantees for results.

In this world, parents quickly learn to fend for themselves because the same answer from the medical community is on repeat: We do not know at this time. I’ll never forget when the impact of this uncertainty hit me over the head. As I made a defeated walk across the campus of the Cleveland Clinic with my daughter in my arms, I realized we were on our own. I remember thinking that unless we know what type of disease was affecting our daughter, then we won’t know how to treat her, ranging from the decision to treat symptoms with tylenol versus ibuprofen, all the way up to different types of anesthesia. When you do not know the what, the how becomes a parent’s worst nightmare.

In the absence professional assistance and experience, the burden rests on the caregiver to make day-to-day decisions. If you have never been in this position, please take a moment to count your blessings.

We are all conditioned to believe that doctors know all the answers, when in reality they do not. What they do offer is a background of extensive medical training, and perhaps, most importantly, the experience of seeing countless patients with a similar presentation of symptoms, etc. so they can diagnosis and treat what ails you.

When your child has a rare disease, however, most doctors have never seen a patient like your child. It isn’t the doctor’s fault; they may be the best doctor in their field and still not know the answer because you don’t know what you don’t know. An excellent doctor will not be afraid to admit this.

We consider ourselves amongst the lucky because Whole Exome Sequencing gave us answers, confirming the genetic mutations causing our daughter’s disease. Knowledge about her type of disease opened the door for vitamin supplements, a clinical drug trial, therapy options, and basic answers to questions regarding tylenol vs. ibuprofen, best antibiotics and anesthesia, and now we are armed with an emergency protocol letter with all of this information. To say this piece of paper is a life-line is an understatement.

When you have a child like Katherine, the word “team” is used often to refer to the people we’ve hand-selected to give her the best chance possible at life. From medical professionals, to physical, occupational, and speech therapists, to the school where she spends her days, to clinical trials, these people make up our team.

As her caregiver, my job is to manage the team – to interview prospective members, to facilitate the communication of short-term and long-term goals, and to coordinate best practices and outcomes to other members. The stakes are HIGH and only the best will get the opportunity to be a part of her team. This is our one shot to get it right, so I really don’t have much use for inexperienced, uncooperative, or narrow minded team members.

Sometimes it is difficult for a trained professional to suspend their beliefs, which is pretty much required when dealing with a rare disease patient. After all, there is not a scientific, medical, or mental database from which to compare best treatments. Realistically, though, they are trained and paid to test, analyze, and give an opinion. That’s what we are asking them to do, after all. More often than not, there is strong scientific evidence and documentation to support that opinion. When that doesn’t happen, when they really just don’t know, that’s when their character and belief system matters most to us.

We decided to interview doctors to select one with the best experience and credentials, yet willing to admit he or she didn’t know everything. We learned very early that you don’t have to “hire” just any professional, that shopping around for a good fit is important. At the time we had been told by one doctor that our daughter was dying and basically sent home without plans for future testing. Thankfully, I didn’t feel this diagnosis was correct. Of course, I debated the power of denial verses motherly instinct for a year and a half, but in the end, instincts beat professional ‘opinion’.  And why shouldn’t you question an opinion based on the comparison to one – just one – other patient? Clinicians are taking a shot in the dark when they say they think your child has a particular disease they’ve never seen before. Truly.

Ultimately, I feel sad for the people who make statements like, “your child will never be an Olympian,” or “this family needs this genetic test to get closure on my diagnosis because the child is dying,” or “her parents think she’s going to be running up these hallways next year, but that’s not going to happen.” These professionals fail to acknowledge what they do not know. They make broad assumptions based on their experiences and fail to take into account the power of love, determination, and above all, the human spirit. I say this not to judge their character or intentions, which I believe are good, but with the hope that they see how this mind-set doesn’t offer any positive progress.

We are not unrealistic about the challenges our daughter faces, but nobody can say with certainty that she won’t walk independently or be an Olympic athlete. What I do know is she has more determination in her pinky finger than most have in their whole being.

Believing something is possible when everything tells you it isn’t takes a leap of faith, but in the end, regardless of the outcome, people don’t feel disappointed at the people who believed that anything was possible.

How am I doing? (Glenda)

KB is so sweet and innocent.  She has the voice and face of an angel and the kindest disposition.  Truly.

I miscarried my first pregnancy and was a nervous wreck throughout Katherine’s.  I knew I was going to feel so much joy and relief as soon as she was out of my belly and finally in my arms. What I wasn’t prepared for was the unbearable pain motherhood brought. A flood of emotions washed over me right after her birth and I remember crying so much, even asking myself “what have I done?”

It was the first time I understood – truly understood – that if anything ever happened to her that a part of me would die, that it would result in my complete undoing, and I would never be the same again.

IMG_0911
She is reaching the stage where she wants to do everything by herself. She even pushes my hand away when I offer her much needed help with eating, holding her so she won’t fall, etc. Today she told me she doesn’t need my help anymore, but the harsh reality is she needs it increasingly more because whatever is affecting her cerebellum is getting worse with each day.

I hear myself saying “be careful” too often.  I am having a hard time figuring out how to give her the independence she desperately desires without letting her hurt herself.

She has lost her ability to climb.  Not all that long ago she was climbing up and down on the bed and couch; now she asks for help just to get up.  She isn’t interested in using her walker anymore.  And just the other day I found her resting in the hallway as she crawled between our bedroom and her playroom.  

She chokes more when drinking and eating – another sign of progression – which will likely require a feeding tube in the future.

She falls more frequently when sitting and crawling.

As you can imagine, this is excruciating to watch, much like a child watching their parents slowly deteriorate before their eyes. But this isn’t my mom or dad. She’s my baby. And there’s nothing I can do about it at the moment except what we’re already doing. It is such a helpless, sad feeling. Of course it isn’t fair, but “fair” doesn’t have anything to do with it.

Katherine looks healthy in my photographs. Honestly, she is “healthy” and happy in the day to day sense, which is a blessing. However, my photographs don’t show the falls, the tremors, the tears of frustration, or the pain we feel as we helplessly watch her progression slowly unfold before our eyes with nothing to offer in terms of treatment, except for love and reassurance. Some days I try to convince myself this will be enough; other days I know it can’t stop what is happening. Mostly, I pray for time, understanding, a cure. Or to wake up from a nightmare and none of this be real.

And then I remind myself that I have to take this one day at a time. Otherwise I will be consumed by my grief and miss the precious moments we have with her.

How am I doing?  I have no idea, honestly.  I am just doing; just breathing; just trying not to think about the future.  There are times when I cannot stop crying.  Moments when her beauty and innocence take my breath away and I don’t understand how I am ever going to find the strength to watch her feel pain or go blind or the others things that could happen. Things I don’t even want to think about.

One day at a time; one moment at a time; one breath at a time.

Keep Churning

Every day on my way to and from work, I pass Boot Hill Farm in Clark County, the former home of Rena and John Jacob Niles. John Jacob was a man of many talents. He was a singer and a songwriter, crafted musical instruments and was an author. He is known as the “Dean of American Balladeers” and the Center for American Music at the University of Kentucky is named after him.

Their house on Boot Hill Farm is a veritable rabbit warren of contrasting styles and materials, with no apparent rhyme or reason for numerous additions. Yet, somehow, the lack of cohesive design causes the house, out buildings and farm to strike my imagination. It gives Boot Hill a feeling of whimsy. It is as if there is a method to this madness.

In 1947, Rena and John Jacob published an illustrated children’s book titled Mr. Poof’s Discovery, in which the title character, a mouse, made a discovery about cream. This story was modified and paraphrased in the movie Catch Me If You Can. The movie version was told as follows:

(Frank Abagnale, Sr.): Two little mice fell in a bucket of cream. The first mouse quickly gave up and drowned. The second mouse wouldn’t quit. He struggled so hard that eventually he churned that cream into butter and crawled out. Gentlemen, as of this moment, I am that second mouse.

To our readers affected by rare disease, or anyone else facing what seem to be hopeless circumstances or insurmountable obstacles, this story is a wonderful reminder why you should always keep churning.

And on we churn…

Connected To The Past

Timing is everything in life.  Just as those who came before us, we all have a ticking clock over our head.

Lately, I’ve frequented antique shops scouting out props to use for food photography projects and collaborations.  More than ever I feel a greater connection to the past.  I find it impossible not to think about the lives, conversations, relationships, tragedies, etc. of the previous owners as I touch, repurpose, and use their personal household items.

IMG_8418

My most recent excursion brought tears to my eyes when I stumbled across a beautiful wooden cradle sitting silently in the corner. That cradle belonged to somebody else’s Katherine, and the bond between a parent and child is timeless.  What was that baby’s story?  Did she have a long, healthy life, or did she die young from Scarlett fever, influenza, an appendicitis, or a rare disease?

Although many medical advancements have occurred since that cradle was made, it’s hard not to feel stuck in the past when doctors say they believe your child is slowly dying of a disease they cannot diagnosis or treat.  Intellectually, I grasp and appreciate the fast-paced nature of genomic medicine; emotionally, however, I fear my own daughter’s timing may not be on the right side of science.  Then again, children still die from influenza.

None of us can escape death or its timing.

IMG_9912
Silhouette of Katherine Belle by Clay Rice.

As I closed my eyes and filled my mind with the sound of giggles and the tender moments shared between a mother and her child, I was reminded that hope is the only thing stronger than fear.  Yes, I am afraid, but my hope and faith are much stronger than my fears.

IMG_8924