Tax-deductible donations at #Hope4KB Research Fund
Tax-deductible donations at #Hope4KB Research Fund
Lexington has a father-daughter dance organized by the Her Knight organization. I took Katherine Belle to our second such dance this past Saturday. Here is a little update on our date:
Katherine’s dress was beautiful. Glenda somehow managed to take pictures of her in it, looking serene and regal. The truth was much different. She was worked up and maniacal. These pictures were somehow captured mid-action at precisely the right time to make them look posed. In fact, in my favorite photo below, you can see her left hand clutching her dress to pull it up to rub her face. Yet, somehow, my wife caught her looking calm, mid yank.
After she was dressed, she looked at herself in the mirror and said “I’m a Princess!” Yes, you are indeed.
Katherine is a very shy little girl, much like her parents. Noise and commotion make her withdraw all the more. As a result, when people came up to talk to her at the dance, she would not talk back. At best, she would smile. Then, when they left, she would talk about them non-stop. This happened several times, as we met several dads and volunteers who knew Katherine from our blog. I loved seeing them and them introducing their daughters to Katherine. Katherine enjoyed this as well. For example, after meeting a dad and daughter in line for photographs, Katherine commented “I really am a famous princess!” because they recognized her. She would not talk much while eating at our table or in line, but several fathers and their daughters made a really positive impression on her.
Katherine and I spent about an hour of the dance with her dragging me around. I held her hands from the back, while she “walked.” She would periodically hop (with me boosting her in the air), which is her version of dancing. This was really fun for her, as she loved the way her dress puffed up when she jumped. She often squealed when we did this. She also had a head bobbing, stomping move that would be more at home in a mosh pit than a daddy daughter dance, but, hey, it was fun for her.
She also loved the Chik-fil-a chicken nuggets and the cookies, but not so much the Chik-fil-a cow mascots. The stuffed ones were okay, but the life-sized moving ones were still scary, despite a recent trip to Disney to see similar characters. In fact, after an hour of dancing, our evening ended abruptly after one of the cows approached her too closely. She demanded an immediate exit – well, she delayed long enough to grab a cookie.
I want to thank Her Knight, and Amanda Bledsoe in particular, for putting on such a great event. You truly made Katherine’s day. Mine even more. Katherine spent all morning Sunday telling her dolls she was “Princess Katherine Belle” and making them “knights.”
I received a call from my mom the other night asking if I was “ok.” She had read my post about Robin Williams’ suicide and noticed that I seemed to have low energy when I took Katherine to meet my parents for breakfast a few days earlier. She was concerned about my well being, much like I get concerned about Katherine’s.
Am I ok?
The blunt answer is “no, I am not ok. I do not know that I will ever be ok again.” None of you want to read that. I am sorry to write it. Yet, that’s the truth.
My daughter, the light of my life, is regressing. In the absence of a miracle, she is expected to live only a handful of years, will become increasingly off-balance and immobile, and will experience frustration at losing her ability to do things she wants to do and did just months before (to be candid, she already is expressing such frustrations), and that is just the precursor to possible dementia, seizures, blindness, and an inability to swallow. Her speech will become harder (is already becoming harder?) to understand until she cannot speak at all.
I have a recurring nightmare (what I am saying, these thoughts come to me in panic attacks in the day more often than at night) in which I go to work while Katherine is still asleep, so I do not get to say goodbye. By the time I get home, Katherine has lost her ability to talk. I will never again hear her say “I love you soooo much” or even “daddy.” I missed my last chance to hear these words while I was sitting at the desk at which I am now typing. At this very moment and as I am writing these very words, these thoughts are so real to me that my chest is tightening in panic and tears are welling in my eyes.
No, I am very much not ok.
The truth known by rare disease families is that despite being “un-ok,” you manage. In some ways you even thrive. You have moments, even days and weeks, of pure joy and happiness; when your only tears are those of laughter and joy.
Laughter and joy are Katherine’s currency. She spends them freely. I am more alive than I have ever been. I feel more deeply than I’ve ever felt. I am better at living in the moment than before. I see genuine goodness in people around me, in friends, family and complete strangers. People who reach out to lift our spirits and to help us practically and emotionally. I see my daughter in all children and love them for it.
We do not deserve the pain of rare disease, but we did not deserve the immense blessing that is Katherine, either.
My dearest baby girl, I would go through the pain of this journey a million times in return for the joy I have experienced. As I wrote in that prayer book in Cincinnati on the day of your first MRI, “you are everything.”
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…
I read today that Robin Williams’ autopsy confirmed that he had Lewy Body Dementia. For those that do not know, this rare disease causes protein “bodies” to appear in nerves. These bodies impair nerve signals, often leading to hallucinations, dementia, and poor motor control.
This struck me particularly hard since Lewy Body Disease is similar in certain respects to Infantile Neuroaxonal Dystrophy (“INAD”), the condition two of Katherine’s doctors believe she likely suffers from. While the manifestations and causes are different, both involve problems and “bodies” in the nerves. With INAD, “spheroids” appear in neuronal axons throughout the body, but particularly in the Cerebellum (because the Cerebellum contains more neurons than the entire rest of the brain and body combined). In both cases, nerve functioning is impaired. With INAD, it also can lead to dementia and always results in poor motor control.
Neither condition has a cure. Both can be difficult to diagnose. Both are debilitating. Both are progressive.
It also hit home because Glenda’s grandfather “likely” had Lewy Body Disease. I say “likely” because he was never definitively diagnosed with it. As we now know all too well, it often is difficult to diagnose rare diseases. Indeed, Robin Williams was only diagnosed with Lewy Body Dementia after a brain biopsy performed during his autopsy discovered the tell-tale Lewy bodies. Glenda’s grandfather died in 2013, just months before the MRI that led the physicians to telling us that Katherine “likely” has INAD. I looked for a relationship between these conditions in my first frantic internet searches, and wonder about possible connections still. It is no wonder, then, that Robin Williams’ suicide resonates with me.
His painful decision to end his life strikes a different, but familiar, chord. Whether dementia caused by the Lewy bodies was a contributing factor in Williams’ decision to commit suicide, loss of muscle coordination was the final straw in a man suffering from life-long depression, or Lewy Body Disease played no factor at all in his decision to commit suicide may never be known. What we do know is that little hope is given for sufferers of Lewy Body Disease – or INAD or any of the other (approximately) 4,000 known or countless as-yet-unknown rare diseases. Few resources are devoted to studying rare diseases and few treatments are available. In many cases, few options are available to even diagnose them — and insurance steadfastly refuses to cover most genetic testing by labeling these non-invasive diagnostic tools as too “experimental;” this translates to “too expensive.” Support groups are hard to come by because patients are few and too wide-spread to find or meet with others like them. There is little community for those of us in dire need of a community’s support.
In the wake of the Robin Williams revelation, we should all take a moment’s pause to consider that a man as objectively successful as Robin Williams saw his life with rare disease as so bleak that his chosen alternative was to end it. While I do not support Robin Williams’ decision, I do understand it. I suspect many others in the rare disease community understand it too.
For those of you who may wonder why Glenda and I have this blog, it is more than an attempt to build awareness for rare diseases (though it is certainly that too). It also is our life raft in deep water. We are trying to keep afloat as we search for others. We rely on your contact and support to keep us paddling toward a shore we cannot see and often lose faith is even there, but continue to hope to find before it’s too late.
For those of you who found Robin Williams’ death to be tragic, please consider that you are surrounded by people – a full 10% of the population suffering from rare disease plus their affected loved ones – who may sympathize all too closely with his decision.
Then do something to help.
If truth be told, my bond with Katherine came about slower than Glenda’s. In my defense, she had ten months of bonding while Katherine was in utero (whoever said it was nine months is a liar). And, if Katherine’s own childhood is any indication, Glenda also had a lifetime of practice nurturing baby dolls, changing their diapers, dressing them, feeding them and tucking them into bed with sweet kisses and “night-nights,” groundwork for this specific mother-child bond.
As for me? Well, before Katherine, I had zero experience changing diapers, dressing, feeding or holding an infant. My “doll” experience consisted of Mego Hulk smashing Mego Superman over the head with my sister’s doll house in an epic battle for the ages – or at least the most epic battle since yesterday’s.
As far as the pregnancy part of fatherhood was concerned, I spent it with a feeling of complete uselessness and “getting-in-the-way-fullness.” Then, suddenly (or so it seemed to me, though an eternity to Glenda) there Katherine was, screaming at me.
She seemed so small and fragile – except for the screaming at me part, which seemed large and dangerous. She quickly let me know that my ten months of uselessness were not ending with her birth, just taking on a new form.
It seemed wholly irresponsible of the hospital, but after a day or so, they sent this little stranger home with my recovering wife and me. I hoped that “rear her to be President and Nobel-laureate” was the standard Glenda was setting for her care of Katherine, but my personal standard of care at this time was “just keep her alive.”
Don’t get me wrong, I would have run into a burning building to save Katherine from the moment she was born, but, as I said, our true bond had to develop. At first, we were strangers looking at each other; me trying to figure out what to do, and she trying to figure out where mommy went and why mommy had left her with this well-meaning boob (and not the kind that then dominated Katherine’s thoughts).
I cannot tell you when the bond was formed, but I can tell you the moment I realized it had. I was changing Katherine’s diaper and making funny faces at her, hoping for a grin. Then she laughed. Not an “is it gas” smirk, but a full-on belly laugh. The kind of laugh Glenda has (for the record, Glenda does not have an “is it gas” smirk, only a full-throated laugh). I literally jumped in the air out of excitement (I use “literally” correctly here, as I did, in fact, jump). I had heard and made an angel laugh. I called my wife, who didn’t understand my excitement. It was just a typical day to her, but I was struck by the knowledge that at some point during those early sleepless nights, between diaper changes, while soothing tears and dodging projectile vomiting, I had fallen hopelessly in love with this little girl. At that moment, I became “daddy” — and to the most wonderful girl who has ever been or ever will be, no less.
Since then, our bond has only grown. I find myself rushing home from work with barely contained excitement at getting to see and play with her. The best part of my day is when she hugs and kisses me when we put her to bed. The second best part of my day is when she greets me coming in the door from work with her hands in the air like she is signaling a touchdown, screaming “Daddy’s home!” When she refers to herself as “Daddy’s baby girl” I am filled with joy and pride. When she leans against or rests her head on me while watching Daniel Tiger, my seconds stretch to infinity; in those moments, all is right with the world and I am calm.
Katherine nurtures me. When she eats, she takes a bite, then offers one to daddy, feeding it to me by hand. Katherine offers me blankets and her beloved stuffed bunny named Bibi to hold (she has a many stuffed bunnies, all of whom are named Bibi: Bibi; Other Bibi; New Bibi; Itty Bibi; Other New Bibi; and Other Itty Bibi).
Katherine takes comfort from me when upset, frustrated or hurt, and listens to me when I tell her she needs to do something. But Katherine also orders me around like a trained pet. “Daddy fix it!” “Daddy get wawa!” “Daddy throw ‘way lady bug!” (she has taken an aversion to the lady bugs that occupy our house and thinks I throw them away in the trash). And, most often, “Daddy sit!” (pronounced in an exaggerated southern drawl as a two-syllable word, “see-it”) followed by her pointing to some location where I am supposed to do so. On “Daddy days” (when mommy sleeps in and daddy takes the helm for the morning), she likes to comb my hair and put bows in it, she tells me what she wants to wear (usually something Glenda has told her I would like) and tells me which items of my own outfit need to be changed.
My days are filled with tea parties with that warren of stuffed Bibis and a baby doll named “Baby Blue Eyes.” I am a jungle gym. We play hide and seek and peek-a-boo. She hides her toys then asks me where they are with an exaggerated hand gesture, palms up and shoulders shrugged, followed by us looking frantically in places they obviously cannot be, acting mystified that they are not there. She wants me to chase her (crawling, not walking) and lift her up when I catch her (preferably upside down), over and over, cackling with laughter the whole time, until I give out (I need to do more cardio and curls — and by “more” I mean “any at all”). I am audience to her first choir performances.
And my days are filled with dance. I hold her hands for the support she cannot give herself, and then she crouches and stands, crouches and stands, her head bobbing up and down. Sometimes it is to music we both can hear. Sometimes it is to music only she hears. These are bursts of pure joy, accompanied, music or no music, by her laughter. And always it comes with screams of “Dance! Dance!” and, of course, orders of “Daddy Dance!”
My wife has often commented that she never remembers me laughing like I do with Katherine. I didn’t. Katherine brings out laughter that I have never had. Not chuckles, but raise-the-roof, tears-in-your-eyes belly laughs — an echo of the laugh I first heard from her that day at the changing table.
Daddy is Katherine’s comforting plaything. I am her biggest Bibi. I am nurtured and loved, just as I nurture and love her in return. My love for Katherine is different than any I have felt before or knew existed. It is unconditional and boundless, life-affirming and life-changing.
I barely remember my life before Katherine and cannot imagine my life without her.
Then I got the call that told me I had no choice but to start imagining it; the physicians told me that Katherine was going to die. As I hung up the phone and went inside to tell all of this to my wife, my mind reeled with horrifying thoughts: Some day – it seemed soon — I would come home from work and she would be unable to raise her hands in that “touchdown” greeting; soon after, she would no longer be able to shout “Daddy’s home!;” no more crawling on me like a jungle gym; no more crawling away from me in chase; no more feeding me her food; no more eating it herself; no more peek-a-boo, or hide and seek; no more ordering me to “sit!;” no more night-night hugs or kisses; no more laughter;
And…no more dancing.
In a prior post, my wife told you that she did not express all of her fears to me in the months leading up to Katherine’s MRI. If this was to protect me from fear, it did not work. I had plenty of fear. I knew something was wrong. I saw a tremor in Katherine that no one else seemed to see or else dismissed. I saw the plateau in her development. I saw the lack of balance.
My Google searches between Katherine’s first birthday and her MRI appointment a month and a half after her second were filled with things like “causes of ataxia and intention tremor in an infant;” “hypotonia;” “symptoms and causes of cerebral palsy;” “genetic causes of developmental delay;” etc.; and etc. I furtively searched the Internet, like a husband hiding something racy, but this was much worse. I was hiding my fear that Katherine had a serious medical issue. I hid it to shield Glenda from unnecessary worry, although – maybe because — I knew she already carried worries of her own.
Don’t get either of us wrong. We spoke of our concerns and fears. We just did not voice their full extent, if we even comprehended them ourselves.
By the time we went for that MRI, I had convinced myself that Katherine had cerebral palsy. If so, the underlying brain injury would not be progressive. With PT and OT, I hoped she would one day be able to “re-wire” her brain so she could walk…and dance.
During part of the MRI process, my wife was allowed to stay with Katherine, while I was kicked out to the waiting area by the doctors (only one parent is allowed to accompany a child). I wandered aimlessly, until I saw a little chapel. I have always found such places peaceful, so I went inside. I glanced at a prayer book and read a couple of the fear-filled prayers of other families. This was a children’s hospital, so they were all from other parents about their own “Katherines.” Many were facing far worse than the cerebral palsy I was sure Katherine had … maybe had … feared she did not have … please, let her have. My mind went to my year of late-night “Googling” fatal conditions. I wrote in the prayer book “Please take care of Katherine. She is EVERYTHING.” I turned to walk out, but couldn’t. My hands started to shake. I had to sit down, but the pews were too far. I sat on the floor, my back against the wall and cried unsustainable, hysterical sobs. Cries I did not know I had in me until exactly that moment. Tears I had never before cried.
Then I said something that I had never consciously thought, “please let me dance at Katherine’s wedding.”
I calmed myself, dried my tears, and walked into the waiting area, just as Glenda was walking into it, too. I spent the rest of the day trying to comfort and reassure her, until I got the horrible call and had to cause Glenda more grief than most people can imagine. “Glenda, she is not alright, they say she is going to die.” I then spent the rest of the night and many days since trying to console an inconsolable, grieving mother, while finding a way to get through my own days, working, playing with Katherine, breathing, eating, and trying to maintain my own weakening grip on sanity.
Katherine’s continuing laughter has made these things possible.
That first time I asked to “dance at Katherine’s wedding,” the thought seemed simple. I wanted Katherine to be on her feet, able to walk and to dance.
In the days since, I have uttered these words many more times. Usually, I do so when I am on my knees, again crying unsustainable, hysterical sobs. Other times it is just a whispered incantation, my mantra.
It now means something different than it did that day. It is not that I want Katherine to be able to walk and to do so easily enough that she can dance. I do want these things, but my perspective has evolved. I no longer need these things.
It now means that Katherine is alive. It means that she is happy. It means that she has found love. It means that she still has those things that make her so special. It means I am blessing her union with a person who sees them, too. It means that she has someone to love her after I am gone. It means that the proper order has been restored to the universe; one where my sweet, smart and beautiful child lives on after me.
And that dance? I no longer care what form it takes. I do not care if she is dancing on her feet, or in a wheelchair. I don’t care if it is a head bob. I just want to see her happy on her wedding day, squealing “Dance! Dance!” and ordering “Daddy dance” one last time before someone else takes her hands.
Katherine, my dear baby girl, I will hold your hands, support and dance with you all the days of our lives together. But, please, please, baby girl, let me dance with you at your wedding.
Update: Researchers are now studying her disease (Mitochondrial Complex 1, NUBPL) at the Children’s Hospital of Philadelphia, but we have to fund it ourselves. Tax-deductible donations to support this life-saving research can be made to the #Hope4KB Research Fund.
On Friday, August 30, 2013, I received a phone call that would forever change my life and the lives of my beloved wife, Glenda, and daughter, Katherine Belle. Medical terminology and nuance aside for the moment (medical terminology and nuance will fill future posts), the call was to tell us this: your daughter is going to die. This was not in some philosophical sense that “we are all going to die,” or a homily that “no one is promised tomorrow.” It came with a medical explanation of how she was currently dying, and the only promise was that tomorrow — or tomorrow’s tomorrow — would never come for Katherine.
In a future post, I will tell you what it was like to take that call, then have to tell your wife that her whole world is ending, while she cradled Katherine in her arms, still reeling from the anesthesia they administered earlier in the day for the MRI and MRS that led to this horrible news; my wife will tell you her emotions and memories, including what it is like to hear that news from me. For now, I merely want to introduce you to the journey we are on and the one we will take you on, should you choose to accompany us.
Memory being what it is, I have no doubt compressed three phone calls into one, and have misunderstood certain things and missed others, but I am smart enough and have done enough research to understand the implications of what I was told. A team of physicians, including neurologists, metabolic specialists and radiologists, reviewed Katherine’s MRI and MRS results and concluded that there was over a 90% certainty that she had a very rare condition known as Infantile Neuroaxonal Dystrophy or “INAD.” This disorder is so rare that we had a better chance of hitting the Powerball than having a child with it. Yet, the doctors were telling us we had hit the reverse lottery, where instead of giving you a check for millions of dollars, you lose your only child.
The remaining options were almost as bad, but might give us a year or two more with our child (the outer limit was expected to be about eight more years). All were progressive and in time would rob Katherine of the ability to move, speak or swallow, maybe of her ability to see as well, all while leaving her higher mental functioning normal until the last stages of life, literally trapping her inside a body that she could not control.
One of the themes of this blog is “Hope.” I ended this first call with a question I have repeated many times since, “Doctor, is there any hope?” After an awkward pause, he responded “You have a beautiful daughter, you need to spend as much time with her as you can.” The ending “before she dies” was not stated, but lingered as a necessary implication in the silence that followed. This advice is true and something we should all heed, but to me, the answer was “no, there is no hope.”
But this is not a blog about hopelessness. Far from it. It is a blog about hope. It is about faith. Above all, it is about love. While we have faced many hard days in the wake of this news — and will face more in the days to come — we have also felt and seen the redeeming power of hope, have been buoyed by the love given us by family, friends and complete strangers and have been astounded by the ability of faith to change things for the better, whether it is faith in a benevolent God, faith in each other or faith in a miraculous child.
In the months that followed (and as we also will detail in posts to come), we had to press for a DNA test designed to diagnose INAD (or at least 90% of the time). We had to fight (successfully) the insurance company for coverage of this test, after they told us it was not “medically necessary” because our child was going to die and there was nothing we could do about it, so there was no need to know if it was INAD or one of the other disorders making up the original list of horrible possibilities that was killing her. We received the insurance company’s “peer-to-peer” notes indicating that our neurologist (now former neurologist) made this battle more difficult by telling the insurance company that he ordered the INAD test only to get us to “accept their diagnosis and have closure.” Below is a picture of the documents appealing from the initial denial of insurance coverage. It is about as long as a novel, and far more important to me than any novel I have read, much less anything I have written.
And then HOPE. The INAD test came back negative. Their certainty was misplaced. With it fell the certainty that the remaining potential causes of her problems — a malformed cerebellum and a profound lack of balance causing her to be unable to walk despite being able to use all of her limbs — were necessarily fatal. We now have HOPE that Katherine has as many tomorrows as any other two-and-a-half-year-old, we have FAITH that she will overcome all obstacles, and we have LOVE. No matter what those tomorrows bring, we will always have LOVE.
My wife is a strong woman, but my daughter is stronger still. She is the happiest, funniest, and sweetest person I have ever met. If you follow us, you will meet her. She is not regressing, but thriving. No matter how many times she falls, rather than crying, she laughs and continues on with what she was doing. It truly is not how many times you get knocked down, but how many times you get back up.
Katherine, our beloved Katherine, keeps getting up.