We hope you enjoyed a beautiful Easter weekend. Katherine Belle had so much fun…maybe a little too much fun. She experienced her first egg hunt on Saturday afternoon and woke up with a bad cough on Sunday morning. (In all the Easter excitement, I forgot to give her her daily dose of allergy medicine. Luckily, her sickness only lasted one day.)
Here are a few pictures from our weekend:
It looks like spring is here to stay. Fingers crossed! Happy Spring!
We have more good news to share with you. On Wednesday, Katherine had her hearing tested and all is normal. We also learned today that Katherine’s follow-up fasting acylcarnitine profile was normal. Normal is good. The next steps come in June as we told you in our last post.
Meanwhile, Katherine is enjoying the outdoors while helping me with our curb appeal projects. (I think she’s a future gardener.)
Good news always calls for a little celebration, so we decided some delicious cupcakes are in order.
As always, thanks to each of you for your love, support and prayers. We appreciate each of you.
We have been very busy since our last post for Rare Disease Day in February.
We received the great news on March 18th that Katherine Belle’s skin biopsies show no signs of INAD. The one abnormality appears unimportant as other similar cells were normal. Although many metabolic diseases show no abnormalities in these tissues, all “normal” findings are big for us, particularly when negative for the dreaded INAD. All test results for 2014 have been positive and none have indicated that she has INAD. She continues to enjoy her weekly physical therapy and occupational therapy sessions. She now has a new walker with a pelvic stabilizer and we are in the process of ordering ankle braces for additional support.
She is scheduled to have a hearing test the second week of April in Lexington, and a spinal tap, a follow-up MRI, and see a genetic ophthalmologist in mid-June at the Cleveland Clinic.
In the meantime, our family is preparing to put our house on the market so we can move into a handicap accessible home. We are very thankful for friends and family who’ve watched Katherine Belle while we clean, organize and tackle all things required for selling a home. Now, we just need to keep it clean with an active toddler …
She has enjoyed the home selling process, especially helping me “stage” our house and pick flowers from our yard.
Katherine Belle is as happy as ever and has turned into such a big girl. She sings her ABCs, can count to ten, loves Dora, Blue’s Clues and mermaids. She continues to adore her bunnies and loves seeing all the Easter decor when we go to the store.
After a long winter, we are ready for spring, sunshine, and spending more time outside sans snow.
She is eager to use her new walker and see how fast she can make it move…
Oh, and she just got her first passport picture, which she took very seriously. I think she looks like a future Secretary of State?
Although she mostly laughs and smiles, she occasionally acts like a normal two-year old (she’s just so darn cute when she pouts!).
Finally, she’s enjoying another great basketball season. This is her second Final Four and she’s really excited about the Kentucky Wildcats bringing home another banner.
Good luck to the Kentucky Wildcats in the NCAA Final Four Tournament!
This Friday, February 28, 2014, is “Rare Disease Day.” One in every ten people will suffer from a “rare” disease at some point during his or her life. Why, then, do we call them “rare?”
The National Institute of Health defines a “rare disease” as one that affects fewer than 200,000 people in the United States. This definition of a rare disease was included by Congress in the Orphan Drug Act of 1983. There are approximately 7,000 diseases or disorders that qualify for this designation. Alone, each disease is rare. It is only when counted together that they are not.
Because of the Congressional Orphan Drug Act of 1983, the term “orphan disease” is often used interchangeably with “rare disease.” Anyone who suffers from one or, in our case, has a family member who suffers from one, can understand the harsh poetry of that term. All too often, the sufferers are children. In many ways, they are abandoned by the scientific and medical communities. Few research projects are dedicated to these conditions. Few doctors specialize in treating them. It is difficult to find support groups. It is hard to find people who understand what it is like to watch a child’s symptoms in ignorance of what is causing them and fear of what they may portend. We face life-changing decisions alone and isolated from any sort of community of peers. We are not just facing the possible suffering or death of a beloved child, but all the things that must be changed before we even know what the future holds.
Can both parents work when our child has obstacles to face? Can we enter into daycare or mainstream schools and risk the viruses and illnesses that can so profoundly affect a child with a rare disease? Can they accommodate a child with the issues our child faces? Is our house fit for someone with a disability? Can we afford to go down to one income? Can we afford to make our house accessible? Can we afford to travel to the physicians that specialize in caring for the rare disease patient? All of this is on top of the harsh reality that we or someone we love may be facing death, and while learning that the road to answers will be long and difficult.
When we were told that Katherine Belle likely suffered from Infantile Neuroaxonal Dystrophy or “INAD,” we searched for as much information as we could find on this condition. We had never even heard of it before the neurologist uttered the words. And it is no wonder. We read that there are only nine children in the United States that are confirmed to have that condition right now, and only around 1,000 that have ever been diagnosed with it here. These numbers do not come from scientific sources, so we cannot stand by their accuracy, but the one thing we do know is that it is extremely rare.
Compare this to cancer or heart disease. Most people have been touched by both. Even small towns have more people currently living with cancer or heart disease than have ever had INAD in the history of the United States.
It is understandable that we donate our charitable dollars to studying conditions we know all too well. We race for cures and donate to heart associations. When Congress or state legislatures set aside government research dollars, most of it goes to conditions well-known to voters. On top of this, private corporations spend their money researching new drug therapies and procedures that will make them money. There is not much money to be made from nine INAD children compared to the billions to be made off of each new cancer therapy or even a minor improvement in a heart stint.
Yes, we are orphans. We are alone, with voices too small and too few in number to be heard. This is why awareness matters. If our small choir stands united with the choirs formed by families faced with the other rare diseases, we are not small, we are not few in number, and we are not powerless. Alone we are rare. Together we are strong.
There are concrete things we can change for the better.
One of the things we learned early on in our search for a diagnosis for our daughter is that these conditions are difficult to diagnose. Most “rare diseases” have a genetic cause. Our current neurologist analogized diagnosing a genetic-based condition to editing a book. This particular book consists of detailed chapters on how to build a person. It defines how each cell is constructed, will operate, will replicate, will repair itself and will be stacked to create bones, tissue, brain cells and our whole body. Current estimates are that there are around 26,000 genes in the human body (somewhere between 23,000 and 30,000 by current estimates, excluding a lot of “non-coding DNA,” which is not well understood), translating in this analogy to 26,000 chapters to edit.The genes range from a few thousand DNA bases to over two million bases per gene, translating in this analogy to chapters of a few thousand to a couple million words each. That is a very large book to edit.
Most of these chapters–or genes–come in duplicate. One “chapter” comes from mom and one from dad. You have to know how each duplicate chapter works when the instructions are different (in our family, mom’s instructions usually prevail, but that is not always the case in genetics), and you have to know how these chapters work in unison to know how the construction is to proceed. On top of all of this, environmental factors work into the equation. How does a virus, a toxin or a trauma factor into the blueprint when the body is being constructed? How do the chapters, themselves, define that reaction?
To top it off, we all have hundreds, if not thousands, of typos and omissions. Some typos do not mean much, if anything. Some change the entire meaning of the story. Some we simply do not know.
This editing process ends up taking a lot of time and costing a lot of money. By way of example from our circumstances, for INAD, we know that typos and omissions in the chapter or gene titled “PLA2G6” are known to lead to INAD. However, this is true only 90% of the time. In the other 10% of known cases, no typos exist in these chapters and science just has not discovered another cause. So, we began with a chance that our child has INAD that this test – this edit – would not detect.
There are duplicate PLA2G6 chapters, and the condition is recessive, meaning that you have to have typos in both mom’s PLA2G6 chapter and dad’s PLA2G6 chapter for the child to have INAD.
Each of these chapters is written in script so small that our most advanced machines cannot accurately read them. As far as chapter PLA2G6, the test accurately detects known typos and omissions in a given chapter 85% of the time. In other words, they have used the test against genes that have been confirmed to contain INAD-causing typos, and only find them 85% of the time. The known typos are missed the other 15% of the time; we simply cannot read all the words. Since typos have to exist in both mom’s and dad’s PLA2G6 chapters, however, if no errors are detected in either chapter, the condition is unlikely to be present (there is only a 2.25% likelihood that errors would be present, but missed, in both parents’ PLA2G6 genes).
So, running the INAD test can result in different outcomes: (1) both mom’s and dad’s PLA2G6 have typos of a sort known to cause INAD, in which case the child is diagnosed as having it; (2) either mom’s or dad’s PLA2G6 is detected to have such an error, but not the other one, in which case, the child may be deemed likely to have INAD based on clinical manifestations of INAD and the 15% non-detection error rate in the other “normal” gene; (3) neither parent has PLA2G6 errors that are detected, in which case, the child still may have it because of the 15% error rate in each PLA2G6 editing (a 2.25% chance), or because of the atypical INAD cases where there is some other cause; or (4) errors are detected in the PLA2G6 genes, but not of a sort known to cause INAD, in which case the results are a firm “we don’t know.” The end result is a definite diagnosis of INAD, a “maybe,” a “probably not,” or a “who knows,” but never a “no.”
The cost for these tests can run at around $2,000 each. That’s right, $2,000 to test for just one condition of 7,000. Run the math. At $2,000 per test for 7,000 tests, the cost would be $14 million to edit all of the chapters known to cause “rare diseases.” Truth be told, the math is not that simple. Some tests are cheaper, while others are more expensive. In no case would they run all 7,000, as many conditions can be eliminated based on clinical signs or other blood or urine tests. However, the reality remains that many of these rare diseases share symptoms and it is often necessary to run multiple expensive tests over the course of years to finally reach a diagnosis. At the end of this long and expensive road, the physicians only come up with a definitive diagnosis half of the time. The other half of the time, we know there is some sort of metabolic disease, some rare condition, but we just do not know what it is. Our editing skills have not advanced to the point of knowing where to look for typos or what they mean.
No one can realistically edit all 7,000 chapters associated with these diseases, so doctors look for reasons to pull a particular chapter for editing. To do so, they perform less expensive (but not cheap) tests to try to figure out which chapter to edit. An MRI and MRS result justified the INAD test for Katherine. It turned out negative (but not ruling out INAD, as discussed above). So we move on to look for reasons to pull the next chapter. She had an abnormality in her acylcarnitine profile. We’ve run it again. If it turns out abnormal a second time, we have reason to suspect it may be one of the 30 known fatty acid or organic acid disorders, narrowing it down to 30 new chapters we might have to pull and edit. 30 edits at $2,000 each is still $60,000. It beats $14 million, but is still pretty expensive, particularly when there is a 50% chance that it will result in nothing definitive. We also have a follow up MRI/MRS, a genetic ophthalmologist appointment, and a spinal tap. We also are awaiting results from a skin biopsy. All of these will provide hints at what chapter to pull next for an edit.
Thank goodness for that insurance, right? Wrong.
In most cases, genetic testing is not covered by insurance. In other cases (like our’s) genetic testing is covered under limited circumstances. Insurance companies are in the business of collecting premiums, not paying claims. Therefore, it is rarer than these diseases for an insurance company to find the limited circumstances to be met.
The reason why genetic testing is routinely excluded from insurance policies or claims are rejected is simple: rare disease patients are easy to ignore, and expensive to hear. It costs nothing for the insurance company to let Katherine die, and $60,000 to see why her acylcarnitine profile is high, much less millions to see if she can be saved.
We are literal parents to figurative orphans left to die by harsh economic realities.
Considering she was thought to be the tenth child alive with INAD, she could be rejected without fear of economic backlash. All ten of us could march away in anger and it would help, not hurt, the insurers’ bottom lines. And what is our alternative? Are we to go uninsured? Are we to buy another policy if it, too, has a “let her die” policy toward genetic testing and rare diseases?
We have chosen a different alternative: To join together and be heard. We can change things for the better. We can put economic pressure on insurance companies to cover genetic testing. We can put pressure on politicians to force them to cover it. We can force states to increase newborn screening. We can expand awareness and education of the signs and symptoms of rare diseases. We can expand the flow of money into research of the genetic roots of all disease, including cancer and heart disease, leading to advances in the fight against the rare ones. We can let the lucky 90% know our cause, as many will join our choir if they just know the song.
This is for your benefit. At a 10% overall rare disease rate in the United States, it will affect your family. It is a matter of when, not if. Help us change things for the better before you discover that you or your “Katherine Belle” is among that 10%, an orphan to the medical community and a burden left to die by your insurance company.
With this blog, we stand up to join the chorus. We are singing at the top of our lungs. We contacted our state elected officials. Kentucky Governor Steven Beshear has proclaimed February 28, 2014, as Rare Disease Day in Kentucky; Representative Sannie Overly will read a Rare Disease Day citation in the Kentucky House of Representatives. It may not matter to many of you (yet, but it will affect all of you eventually) but it matters to us. Katherine’s voice matters. Katherine’s life matters. It is worth more than $60,000. It is worth more than $14 million.
And, we will not go quietly. We will be heard.
How can you help? First, you can share this post with everyone you know to help us raise awareness. Second, change your Facebook profile picture (see different examples below) to show your support for Rare Disease Day. Third, encourage your local, state and federal officials to recognize Rare Disease Day. Fourth, wear a denim ribbon on Friday to show your support (jeans for genes) and tell people why you are doing so.
If you have read our other posts, “Faith. Hope. Love.,” “Death and Resurrection” and “Dance! Dance!, ” you will know much of our individual stories leading up to the moment when our universe was turned upside down. As Dave has explained, on Friday, August 30, 2013, we received a phone call that forever changed our lives. This was a call from a neurologist telling us our two year old daughter, Katherine Belle, likely has a rare and progressive genetic disease.
What immediately followed was complete and utter numbness, disbelief, and unbearable pain. It was so hard to believe that the world was still spinning when it felt as though it had suddenly stopped and literally knocked me off my feet.
I do not remember much of the moments, days, or even weeks following this devastating news, but I do recall repeatedly asking Dave to explain to me once again what disease the doctor said he believed Katherine had. The name was so unfamiliar.
We soon learned that INAD is very rare. Naturally, I wanted to know more about this vicious intruder who had taken our family hostage and threatened to kill my only child, but truthfully, I was afraid to look in those early days. I did not want to read what science had to say about my daughter’s fate and our future.
Infantile Neuroaxonal Dystrophy (INAD) is now a name I know all too well. And, after my mother read about the affects of this rare disease, and told me she wanted to take a “sledgehammer to her computer,” I could completely relate. It took me a while, but ever so slowly, each day I was able to read more and more about INAD until finally I knew what everybody did not want me to know. Right then I knew that we had involuntarily become a part of science. INAD is so rare, in fact, there are only two labs in the entire country that do this genetic test. Yet somehow, it had found its way to our doorstep.
By mid-October, (which felt like two years later) we had entered into the “coping” phase of our journey. The immediate numbness wore off, but today we live on an emotional roller coaster that quickly shifts gears from anger, denial, grief and depression, and is susceptible to change minute-to-minute, hour-to-hour, day-to-day. We have been to grief counseling and joined support groups. Mostly, though, we try to maintain as much routine as possible for Katherine Belle so she has a sense of structure and security. This is not an easy task when some days all I want to do is crawl into my bed and cry.
Needless to say, our lives were forever changed with this news. Sick time donations from kind and loving co-workers has afforded me the opportunity to spend as much time with Katherine as allowed while we face the difficult decision whether or not we are financially able to make the transition to a single income family with growing medical bills. (Dave has Type 1 Diabetes and is insulin pump dependent.) My husband’s co-workers have cooked us weekly meals. Friends and family have offered financial assistance. We are currently in the process of selling our home to lower our mortgage payment and move into a handicap accessible home. Our doctor is in Cleveland, which is a six-hour drive. We’ve already appealed (and won!) a denied insurance claim. I take Katherine to occupational and physical therapy appointments twice a week. And, although that genetic test for INAD came back negative, as of today, we live in that “unknown” diagnosis phase where “atypical” INAD is still on the table (Dave will explain more in his next post).
However, I do feel like we are the luckier ones. We are finding strength on this journey. We have learned the true importance of living in the moment, and we have the constant support of family, friends and even strangers who give us courage, strength, hope and love. We have so much hope. And faith. And love. Even if science never catches up with our own daughter, we hope and will actively advocate for others. And, as I am learning, there are many things that science cannot explain.
The medical aspect of our story is overwhelming and we’ve had to assimilate a ton of information quickly amidst our grief. It is true that your doctors and therapists become your family. We are all partners and advocates for Katherine Belle. We all have hope. We are all advocates for a cure.
As we take on more of an advocacy role not only for our own daughter, but for others who share this unimaginable journey of hope and survival, we want to arm you with as much information as possible to share in your own communities. It takes a village. As the Rare Disease Day slogan says, “Alone we are rare. Together we are strong.”
Rare Disease Day is February 28, 2014. Dave will soon share more information about rare diseases, our own advocacy efforts, and what we are facing in the coming months and years. In the meantime, please take a moment to read about Rare Disease Day on Facebook and share information and links with your networks.
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. This was likely to occur within two to eight years. Worse yet, before the end, we would lose everything that makes Katherine “Katherine.” Each of the disorders she was likely to have was progressive. Each would rob her of her ability to speak or move long before taking away her intelligence. 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.
In August 2012, just one month after Katherine Belle’s first birthday, I found myself sobbing hysterically in my doctor’s office following a series of scary panic attacks. “Was there much stress in my life?” she asked. “Yes,” I responded. “My grandfather recently passed away and the chief of staff at work had suddenly died just two days ago. And…and I am worried about my daughter.”
At daycare, Katherine Belle made her mark in the nursery as the fastest crawler of the bunch, even earning the nickname “Flash” for her speed. She was reaching developmental milestones ahead of time and I recall worrying that she would be walking as early as nine months.
Instead, as the months passed, I watched her peers, and eventually younger children, take their first steps while my daughter continued to crawl at their feet. I felt silly to worry. After all, she was only 13 months old … then 14 months … then 15 months. Many moms reassured me that their own children did not walk until later. My husband’s aunt did not walk until she was almost two. Research reassured me that walking as late as 17 months was within the normal developmental range.
“Any day now…” and “you will wish she was not walking when you are chasing her all over the place” were common phrases I heard during this time. When she still was not walking by 15 months old, I decided to seek the assistance of physical therapy. I silently struggled greatly during this time. My motherly instincts told me that something was not quite right. Despite weekly visits to occupational and physical therapists, she still was not walking as she approached her second birthday.
I sought solace in the outdoors, taking daily walks on my lunch break at work to observe and photograph the beauty around me. Only then was I able to stop worrying and enjoy a moment of peace. Photography was my therapy, my outlet, my voice. I looked for hope everywhere and would take a photograph to remind myself that hope existed and was right in front of me; however, I needed my camera to show me.
But still, there were many lonely, stormy days.
I did not want to worry my husband too much with my fears. Truthfully, I could not even say what I feared, except that I just had a feeling that something was wrong. What, I did not know? I held out hope that she just had low muscle tone, which she obviously had. And sensory processing issues, which she had as well. But as she approached her second birthday, I began to ask myself the really hard questions. Why wasn’t she walking? Would she ever walk? Is there something more we should be doing? Is there a more serious underlying issue?
At her two-year appointment in July, her pediatrician nervously said, “And now for the hard stuff of today’s visit. I am concerned that she is not walking independently. Did you have a difficult birth, any head injuries or an accident?” “No,” I responded with a lump in my throat. “Well,” he continued, “I want to refer you to a neurologist just to be sure. She really should be walking at two years old.”
In August, we met with two neurologists and told them her history. They agreed it best to perform an MRI in a couple of weeks to see if there was anything going on in her brain. We were out of town and decided to visit the local zoo the next day to lighten the mood and have some fun.
It was blistering hot that day, so I took Katherine Belle to stand in the shade while my husband stood in a long line for tickets. We were sitting on the curb when a young man in a wheelchair looked over at us and backed up beside us. His name was Donny and he asked how we were doing. We made the usual chit chat about the weather and the zoo. He asked where we were from and why we were in town. I told him we were visiting the local hospital because our daughter could not walk and we did not know why. He shared his personal story with me. There were terrible complications during his birth. He died briefly before being resurrected. His mother struggled. There were many surgeries. His life had been very difficult, but he was alive and telling me his story. He had strong faith in God and believed there was a reason he had been brought back to life. His body may have been paralyzed but his mind was sharp and he was very articulate.
Then he said something to me that I will never forget: “I knew you were a kind soul and that you would not be afraid to talk to me because of my condition. I believe God put us together today so I could talk to you.” Lastly, he looked me in the eyes and said, “Everything is going to be okay.” A moment later his guide came up with their tickets and he was gone.
I sat on that curb and cried. I cried so hard that I could barely breathe. I felt as though Donny was the first person who truly understood how much I was suffering — even more than I realized. At that moment, out in the open and in front of a very crowded zoo entrance, I let it all go. A year’s worth of worry and anxiety flowed out of my body. My husband soon appeared and took me to the gift shop where I was able to gain some composure.
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.
I had prepared myself for bad news, but nothing prepares a mother for the news that her child is going to die of a rare genetic disorder. Now I fully understand why the mind erases tragically painful moments. The pain is enough to kill a person. As my legs gave out beneath me, I fell to the floor in utter despair and heartbreak, screaming at the top of my lungs that this was not really happening, I have no doubt that a part of me died with this news.
I do not remember much after that moment (and would not remember much of the next few months), except looking over at my daughter on the floor beside me and seeing her sweet smile. I felt dead and was told she was going to die, but she was alive in that moment. She was hungry. She needed her diaper changed. She wanted to hear a bedtime story and hug mommy and daddy before going to sleep. A voice told me that I had to stand up and take care of my daughter.
I let Katherine be my guide each day. I would ask her what she wanted to do and we simply did it.
Each day became a little easier and my breakdowns came less frequently. Once again, I turned to my camera for comfort. When I looked into the lens, I was living in that frame. There is no tomorrow in that moment; just that second captured for all time. I can blur out the background and focus on my daughter’s smile, the twinkle in her eyes, the space between her two front teeth, the dimple in her cheek or her little hands splashing in the water. The world stops and I am at peace.
At the end of each day I download my photographs. They show me a happy girl. Despite my grief, I see that I am giving her the life she deserves.
I do not know what tomorrow brings. None of us do. I believe in science, prayers, hard work, positive thought, and the healing power of love. Each day I share my photographs with friends and family and tell them a story that does not always require words, and that sometimes cannot be expressed with them. It is a story of faith, hope, love, and determination. As we continue ahead on our journey toward a diagnosis, I see a brave and thriving girl who is progressing, not regressing. I see a happy and joyful child who meets every obstacle or challenge with the biggest smile and the most positive attitude. I see a future with many more photographs of accomplishments, milestones, and laughter. In all of my pictures, I see faith, hope and love. Above all, I see an abundance of love.
The past few months have been excruciatingly painful and tough, but I have learned a very valuable lesson: You never know what the next second of your life will bring. My daughter guides me daily and reminds me that each moment is precious. Each day is a gift. She has taught me the significance of the quote, “We do not remember days, we remember moments.” I have learned to enjoy and live in the present because it truly is the only moment that matters.
Part of me died in that Cincinnati room, but I find myself resurrected. I am a new person with a new perspective — and I have the sweetest little girl to guide me in my new life.