Tag Archives: faith

Connected To The Past

November 7, 2014 kbelle329 3 Comments

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.

Silhouette of Katherine Belle by Clay Rice.

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

Glenda

Around We Go

July 17, 2014 kbelle329 4 Comments

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 normal except 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 unlikely that 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?

Glenda

Coping and Advocacy

Image February 11, 2014 kbelle329 2 Comments

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.

– See more at: http://rarediseaseday.us/raise-your-hand/#sthash.27mf09Uw.dpuf

*Hope for Katherine Belle did not receive any monetary contributions for this post.

Glenda

A Mother’s Death and Resurrection

January 29, 2014 kbelle329 17 Comments

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.

In my husband’s January 27, 2014, post, “Faith. Hope. Love.,” he describes what followed next:

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.

David

Faith. Hope. Love.

January 27, 2014 kbelle329 9 Comments

On Friday, August 30, 2013, I received a phone call that would forever change my life and the lives of my beloved wife, Glenda, and daughter, Katherine Belle. Medical terminology and nuance aside for the moment (medical terminology and nuance will fill future posts), the call was to tell us this: your daughter is going to die. This was not in some philosophical sense that “we are all going to die,” or a homily that “no one is promised tomorrow.” It came with a medical explanation of how she was currently dying, and the only promise was that tomorrow — or tomorrow’s tomorrow — would never come for Katherine.

In a future post, I will tell you what it was like to take that call, then have to tell your wife that her whole world is ending, while she cradled Katherine in her arms, still reeling from the anesthesia they administered earlier in the day for the MRI and MRS that led to this horrible news; my wife will tell you her emotions and memories, including what it is like to hear that news from me. For now, I merely want to introduce you to the journey we are on and the one we will take you on, should you choose to accompany us.

Memory being what it is, I have no doubt compressed three phone calls into one, and have misunderstood certain things and missed others, but I am smart enough and have done enough research to understand the implications of what I was told. A team of physicians, including neurologists, metabolic specialists and radiologists, reviewed Katherine’s MRI and MRS results and concluded that there was over a 90% certainty that she had a very rare condition known as Infantile Neuroaxonal Dystrophy or “INAD.” This disorder is so rare that we had a better chance of hitting the Powerball than having a child with it. Yet, the doctors were telling us we had hit the reverse lottery, where instead of giving you a check for millions of dollars, you lose your only child.

The remaining options were almost as bad, but might give us a year or two more with our child (the outer limit was expected to be about eight more years). All were progressive and in time would rob Katherine of the ability to move, speak or swallow, maybe of her ability to see as well, all while leaving her higher mental functioning normal until the last stages of life, literally trapping her inside a body that she could not control.

One of the themes of this blog is “Hope.” I ended this first call with a question I have repeated many times since, “Doctor, is there any hope?” After an awkward pause, he responded “You have a beautiful daughter, you need to spend as much time with her as you can.” The ending “before she dies” was not stated, but lingered as a necessary implication in the silence that followed. This advice is true and something we should all heed, but to me, the answer was “no, there is no hope.”

But this is not a blog about hopelessness. Far from it. It is a blog about hope. It is about faith. Above all, it is about love. While we have faced many hard days in the wake of this news — and will face more in the days to come — we have also felt and seen the redeeming power of hope, have been buoyed by the love given us by family, friends and complete strangers and have been astounded by the ability of faith to change things for the better, whether it is faith in a benevolent God, faith in each other or faith in a miraculous child.

In the months that followed (and as we also will detail in posts to come), we had to press for a DNA test designed to diagnose INAD (or at least 90% of the time). We had to fight (successfully) the insurance company for coverage of this test, after they told us it was not “medically necessary” because our child was going to die and there was nothing we could do about it, so there was no need to know if it was INAD or one of the other disorders making up the original list of horrible possibilities that was killing her. We received the insurance company’s “peer-to-peer” notes indicating that our neurologist (now former neurologist) made this battle more difficult by telling the insurance company that he ordered the INAD test only to get us to “accept their diagnosis and have closure.” Below is a picture of the documents appealing from the initial denial of insurance coverage. It is about as long as a novel, and far more important to me than any novel I have read, much less anything I have written.

And then HOPE. The INAD test came back negative. Their certainty was misplaced. With it fell the certainty that the remaining potential causes of her problems — a malformed cerebellum and a profound lack of balance causing her to be unable to walk despite being able to use all of her limbs — were necessarily fatal. We now have HOPE that Katherine has as many tomorrows as any other two-and-a-half-year-old, we have FAITH that she will overcome all obstacles, and we have LOVE. No matter what those tomorrows bring, we will always have LOVE.

My wife is a strong woman, but my daughter is stronger still. She is the happiest, funniest, and sweetest person I have ever met. If you follow us, you will meet her. She is not regressing, but thriving. No matter how many times she falls, rather than crying, she laughs and continues on with what she was doing. It truly is not how many times you get knocked down, but how many times you get back up.

Katherine, our beloved Katherine, keeps getting up.