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."
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?
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.
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.
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
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.
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.
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?|
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?
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
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.
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).
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.
goodness for that insurance, right? Wrong.
|Our insurance appeal "letter."|
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.
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.
literal parents to figurative orphans left to die by harsh economic realities.
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
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
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.
below for additional information: