HerKentucky has #HopeforKatherineBelle!

Do you ever find yourself at a complete loss for words?

Let me tell you, that's a weird feeling for a writer. And yet, when HerKentucky writer and photographer Glenda McCoy told us last week that her daughter is facing an unimaginable diagnosis, there haven't seemed to be the proper words to convey to Glenda and her family how very much we all care and how much love and support we're sending in their direction.



As longtime HerKentucky fans know, Glenda is an amazing photographer and has documented Katherine Belle's journey though an amazing series of photographs. She has asked that as many folks as possible take photos of themselves holding a #HopeforKatherineBelle sign, or create any other photo expressing this message of hope. She, David, and Katherine Belle are finding amazing strength in these images. I hope y'all will post photos to the Hope for Katherine Belle Facebook page, include the hashtag #hopeforkatherinebelle on twitter, instagram, or Facebook, or you can email me at heather@herkentucky.com, and I'll make sure Glenda and KB get them!

You can learn more about Katherine Belle's journey on Hope for Katherine Belle.

My "babies" have Hope for Katherine Belle!

National Bourbon Day

National Bourbon Day is Saturday, June 14. How are you celebrating?

{Image © 2014, Glenda McCoy}

Rare Diseases: Together We Are Strong


As many of you know, since September I have been taking a break from HerKentucky to spend time with my two year old daughter, Katherine Belle. In the meantime, I have started a new blog with my husband, Hope For Katherine Belle, to document our journey after receiving a phone call on Friday, August 30, 2013, that forever changed our lives.  This was a call from a neurologist telling us our daughter likely has a rare and progressive genetic disease.  Please take a moment to read our posts, including "Hope. Faith. Love.," "Death and Resurrection," "Dance! Dance!" and "Coping and Advocacy."  
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.

What is in your genes?

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?
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.


Our insurance appeal "letter."


In most cases, genetic testing is not covered by insurance. In other cases (like ours) 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 our blog, Hope For Katherine Belle, and by sharing this post on HerKentucky, 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.

Click links below for additional information:


Mitochondrial Disease Hits Home

When we started HerKentucky, it seemed like a fabulous way to share snippets of Kentucky life. I didn't realize that the writers would come to feel like family. I've been so proud to hear of their new blogs and publishing contracts and professional opportunities, even if it sometimes meant a shift in our editorial schedule. The HerKentucky girls are my clan. Then, something happened that I never expected.


One of our writers -- and, by extension, the HerKentucky clan -- has received some heartbreaking news. Glenda McCoy's amazing daughter Katherine is currently undergoing testing for a possible Mitochondrial Disease.

Now I have to say that I didn't know much about this condition until quite recently. But, I'd never underestimate the power of a Kentucky woman, especially one of our writers. Glenda is on a mission to inform us all about this awful category of diseases, which affects somewhere between 1,000 and 4,000 children every year, severely compromising their everyday lives.

Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common.
Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.
Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection.



Governor and First Lady Beshear recently undertook efforts to educate all Kentuckians about Mitochondrial Disease. The Governor declared last week Kentucky Mitochodrial Disease Awareness Week, and First Lady Beshear has used her official social media platforms to raise Mitochondrial Disease awareness. Here at HerKentucky, we hope to use our blog and social media as a source of ongoing information about Mitochondrial Disease treatments and resources.


Glenda asked me to let the HerKentucky readers know that she will be taking a step back from the blog as she and her husband await Katherine's diagnosis and plan her medical treatments. I know that all of our blog readers and social media followers will miss the amazing photographs and lovely posts that Glenda has added to HerKentucky this year. We already know that Glenda is an amazing mother to Katherine Belle, but I have been truly amazed by the grace and strength with which she has handled such a terrifying situation.


I ask that all of you -- HerKentucky's family of writers, readers, and fans -- please keep Glenda, Katherine, and David in your thoughts and prayers. Please, take a moment to educate yourself today about Mitochondrial Disease. If you so choose, donations may be made to the United Mitochondrial Disease Foundation.

(all photos courtesy Glenda McCoy.)

Instagram Photo Contest Winner

Thank you so much to all who entered HerKentucky's Instagram Photo Contest.  All 149 entries were great and made our decision a very tough one.  We really enjoyed seeing all of your posts from across the Commonwealth.

Congratulations to Stephanie Clemmons for her beautiful picture of Owsley Fork Lake in Berea, Kentucky.

Owsley Fork Lake, Berea, Kentucky
Stephanie Clemmons

She will receive a $25.00 Amazon gift card and a 10x10 copy of this photograph (see below). Please continue to take pictures of our beautiful Kentucky...you never know when another photo contest might pop up in the future!


Stephanie will receive a printed 10x10 copy of this photograph and a
$25 Amazon gift card



HerKentucky's Instagram Photo Contest



Contest Rules

  1. Follow HerKentucky on Instagram.
  2. Tag your favorite Kentucky photograph #herkentuckyphotocontest and tell us where it was taken. 
  3. You may enter as many times as you wish between today and August 16, 2013 at midnight. 
  4. HerKentucky will select and announce one winning photo on August 17, 2013.   Winning photo will be featured on HerKentucky's Facebook page and Website.
Prizes
Winner will receive one $25 Amazon gift card and a 10x10 copy of my Instagram photo.

*This contest is solely sponsored by HerKentucky. 


Share Your Favorite Kentucky Quotation


I love this Daniel Boone quotation about Kentucky.  Do you have a favorite quotation by a Kentuckian or about Kentucky? Please share them with me and I will select a couple to add to my photographs.