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.
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.
P.S. – Thank you to each of you who’ve followed our blog the last five years. We are forever thankful for your prayers, support, and the many ways you’ve helped raise awareness for Katherine’s rare mitochondrial disease. This is not goodbye. We are now putting all of our efforts in our 501(c)(3) nonprofit, NUBPL Foundation, with the mission to raise awareness and fund research toward the development of life-saving, life-enhancing treatments and a cure for NUBPL, a mitochondrial complex 1 deficiency disorder. We invite you to follow along as we grow our global patient community and raise awareness. Follow us on Facebook and the NUBPL Foundation website.
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.
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.
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.
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.
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.
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.
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.
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.
On June 19, 2014, we were told a second time by a doctor that, in his opinion, he thinks there’s a 90% chance Katherine has Infantile Neuroaxonal Dystrophy (INAD). Once again, this opinion is based solely on her brain MRI. However, (at this point) she shows no clinical signs (i.e. involuntary eye and muscle movement, muscle rigidity, etc.) of INAD. We are still awaiting some results from her spinal tap. All other tests, including those that typically show abnormalities in INAD patients, have been normalexcept for her brain MRI.
Feeling confused by the certainty of the diagnosis based on the MRI alone, we decided to seek a third opinion, this time from an INAD expert in Oregon. We sent her all of Katherine’s test results, MRI reports and images, medical history, etc. After a thorough review, she informed us that she thinks it is unlikely that Katherine has INAD.
Again, an expert in the family of diseases that include INAD says she thinks it is unlikelythat Katherine has INAD. Unlikely. Unlikely is a far cry from a 90% likelihood.
Without getting too technical, Dr. Hayflick says the progression shown on Katherine’s last MRI is not the same as she’s seen in other INAD patients, and one abnormality is not one she has ever seen in an INAD patient. In addition (as we knew), the genetic test results for INAD were normal. She also believes she should be experiencing clinical aspects of this disorder other than those directly associated with the cerebellar atrophy, which she is not.
So, where do this leave us? Is this a cause for celebration? Well, we do not know what this means since she did not give us any alternatives. Instead, she agreed that the next step should be the Whole Exome Sequencing for possible answers. We are in the process of getting the test cleared through our insurance company (fingers crossed). This test costs around $13,000. Insurance may or may not cover some or all of the costs. Test results take four months.
It is likely that this test is the end of the road for us as far as conventional medicine is concerned. Few of the things Exome Sequencing might reveal have FDA-approved treatments – but “few” is better than “none.” Four months from now we may be left with this answer: we just don’t know right now. Or, this test could uncover something other tests have missed – perhaps a disorder that is treatable. Perhaps it will reveal an atypical INAD, leaving us where we were last August and again last month.
For now, we must be patient, enjoy our precious moments with Katherine, and have faith in the things we do not understand. This journey continues to confirm my belief that Katherine truly is rare – a living, breathing miracle who is spreading her joy around the world – and none of her doctors have ever seen another person with her condition. We all seek answers under these circumstances, but for now they can only estimate with percentages as to what is happening in her body because they are not certain. And, as uncomfortable as it may feel at times, uncertainty isn’t necessarily a bad thing.
After all, hope shines brightest in the darkest moments, right?
Don’t get me wrong. I have hope. I try my best to always live in the moment and enjoy each day at a time. I know doctors don’t know everything or the path my daughter’s disorder will run at this stage. I hear from mothers all the time who tell me their child is still alive even though some doctor said they would only live until such and such an age…
That said, celebrating the fact that my darling Katherine Belle is turning one year older is bittersweet. I also hear the stories from mothers who have lost their sweet angels. Some days it’s hard not to think about the future; some days the reality of our situation hits me especially hard, even at the most unexpected times, even something so simple as a party decoration can bring me to my knees.
Unbeknownst to me when I ordered it, this birthday crown is very clever and cost efficient. Instead of buying a new one every year, I can use the same one and just add a new number…you get the idea. Unfortunately, this little crown brought so many tears. Will she get to use every number? Please let her use all of these numbers. Once my tears dried, I knew that I had to give my girl the birthday she wanted. With the help of so many, including friends who opened their home and hosted a party, her birthday was everything she imagined and so much more.
I asked her what she wanted and she consistently answered the same: pink balloons, chocolate cake, cookies, and a mermaid doll.
She even received a very special chair of her own to enjoy while lounging by a friend’s pool this summer.
She received many birthday presents, messages, and greetings, even from people we’ve never met. Caring folks who just wanted to send her something special… Thank you so much for making Katherine Belle’s third birthday extra special. We are blessed beyond measure to know so many wonderful people who share our hope and pray with us. I look forward to many future birthdays with my princess.
On June 19th and 20th, 2014, Katherine had several different appointments and procedures at the Cleveland Clinic. These included a follow-up MRI, a spinal tap to draw spinal fluid for testing, an appointment with a genetic ophthalmologist to look for signs of metabolic disease that commonly appear in the eyes, an appointment with our neurologist, Dr. Parikh, and with a geneticist. As will be discussed below, an EEG was added at the last minute.
The MRI and spinal tap occurred on the morning of the 19th. The ophthalmologist was that afternoon. Our appointment with Dr. Parikh was set for the 20th, but we received a call a little while after the MRI that they needed to schedule it for later that afternoon. At that moment, we feared the MRI showed that something was wrong.
Unfortunately, we were correct. The MRI showed that the damage to her cerebellum had spread since her original MRI in August of 2013 and now impacted her “entire balance center.” Dr. Parikh then uttered the dreaded acronym: INAD (short for Infantile Neuroaxonal Dystrophy). For additional information, go to:
The appointment with Dr. Parikh immediately turned to chaos. Glenda started crying very hard, Katherine got upset and kept asking “mommy, you ok?” and I felt like I was falling into a hole. Dr. Parikh wanted to discuss our reaction and the MRI some more, including showing us the images, but it just wasn’t really possible to focus. I remember he kept putting his hand on Glenda’s shoulder to give comfort and reassure her, but she was inconsolable. I did manage to explain to him that we had hoped that her MRI had not changed and that we hoped it was not INAD based on the prior negative tests. I also said that we felt like this was a death sentence.
Dr. Parikh said that the other tests were not definitive. The genetic test that was normal is normal in 20% of the cases where other tests shows that the patient has INAD, the nerve testing (EMG) is sometimes normal in the early stages of the disease, as is the skin biopsy, and the eye test (done earlier that day and showed no abnormalities and that she has better eye-sight right now than either mommy or daddy) was often normal throughout the course of the disorder. While the MRI was also not definitive, he knew of no other medical condition that shows her particular MRI findings. He asked if we wanted to look at the images, but we did not have the strength. We may regret this, but we just couldn’t right then.
He went on to say that he is 90% certain that she has INAD. I guess that means there is still a 10% chance that she has something else. He wants to follow up with the genetic testing to see if that “something else” comes up. Dr. Parikh also tried to reassure us that even if it is INAD, there is still hope. He said these cases are so very rare, that we cannot assume that our daughter will follow the same course as those that went before her; they are constantly learning that these rare disorders have different types, different outcomes and different time frames. I replied, “but her MRI is showing that her condition is advancing.” He answered “yes.” I do not remember anything that followed during that appointment except for Katherine’s repeated question “mommy, you ok?” Glenda later told me that Dr. Parikh said, “I was hoping the MRI result was going to be different, but it is not.”
Based on the MRI, an EEG was added to Katherine’s appointments. Abnormalities in the EEG are an early sign of INAD. We got up early the next morning to put Katherine through this test. A few days later we received a call from the Dr. Parikh’s office. The EEG showed “no signs of concern.” Yet another typical finding for INAD is missing. Only her MRI appears in any way like this dreaded disorder.
Yet, it is the MRI that really matters. Regardless of the label or acronym put on the disorder, the bottom line is that it is damaging Katherine’s brain. Her higher functioning remains normal for now, but her ability to control her movements is becoming increasingly impaired.
For example, her intelligence seems unaffected. Her vocabulary is growing. Her sentences are becoming more complex. She understands ideas that we thought beyond her age, including a pun the other day on Bubble Guppies, which she proved was no fluke by immediately telling a related joke (though not a pun) of her own. Her memory is better than ours. In fact, we use her as our shopping list, telling her what we need to get at the grocery, sometimes a day in advance, and she invariably remembers to tell us to get it when we go to the store. Yet, she struggles with movement. She cannot walk. Standing without aid is rare now. Standing with aid is unsteady. She falls often when sitting or crawling. Her right foot is becoming tighter when manipulated and drags when she walks with aid. She is clumsy when using her hands to reach for something or feed herself. She is unable to hold a large popsicle.
While her language content and structure is getting better, her ability to communicate the words is becoming more of a struggle; she is slipping back into that stage that all parents know well when mommy and daddy can understand most of what she says, but other people have trouble understanding her. In short, she is a happy, smart and funny little girl, slowly (for now) losing her ability to control her movements. This is slow enough that we have been able to convince ourselves that we see no regression, only the result of someone trying to do more and to do it quickly, but with a problem in her cerebellum. We now know that this is not true. In the end, what we learned is that her condition is spreading damage through her cerebellum, leading to increased balance and motor problems; she is regressing.
We can continue to hope. We are re-involving a physician from Oregon who ceased to be part of the picture after PLA2G6 testing appeared to indicate that INAD was unlikely, but who is an expert in this family of disorders. She may offer additional opinions or ideas of how to proceed. Dr. Parikh mentioned something about consulting with INAD experts in other countries, but what he said is lost in the haze of that appointment. We are going to perform whole exome sequencing at the Cleveland Clinic to see if “something else” pops up – assuming that insurance agrees to pay for it to be done, which is far from given. We will discuss this testing in a future post. Whether it shows a known mutation that leads to a different diagnosis, a mutation that becomes part of the body of knowledge about the causes of INAD in those 20% of cases where there is no PLA2G6 mutation, or a new mutation and a new rare disease, the answer matters to us. It gives us our only chance, however slim, to find something treatable. It also may add to advancements in the science behind these rare diseases that one day may save someone else’s child, even if not our own beloved Katherine. Soon, we may be left with nothing that current science can offer and no more battles we can fight.
Following the devastating appointment with Dr. Parikh, we made a tear-filled, defeated walk across the Cleveland Clinic campus. We decided that a trip to the beach with Katherine would be good for all of us, which it was.
On our drive to South Carolina, we discussed our options, which are very few, and realized we were right back where we started last September.
And then THIS happened. Celebrities, friends, family, strangers, and even a few mermaids started sharing their “Hope for KB” images, reminding us more than ever there is always hope and we are never alone on this journey.
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 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.
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.
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.