Mitochondrial Disease Awareness Week (September 18-24)

In honor of Mitochondrial Disease Awareness week, we would like to help you better understand Mitochondrial Disease, especially as it relates to our daughter. There are families that do not like to discuss their child’s disorder, and although we can respect that decision and honor their wishes, we have a very different perspective when it comes to our own daughter.

For starters, we cannot hide the fact that Katherine cannot walk, has a mild tremor, and an irregular speech pattern.  Knowing our child is a wonderful opportunity to learn about rare diseases as you get to know her personally, and since she is unable to fully articulate the ins and outs of her disorder, we are her voice. No, we do not think her disorder defines her, but it is as much a part of her as anything else. Second, we are not embarrassed by her disorder and do not want her to feel that it should only be discussed behind closed doors. Third, knowledge is powerful. We don’t want people to guess why our child cannot walk – we want to educate you with the facts so you can help spread awareness just by being informed.

This is the way we understand or think about our daughter’s condition: Katherine has a very rare genetic disorder known as Mitochondrial Complex I (or 1) Deficiency caused by mutations in her NUBPL gene. There are dozens of types of “Mitochondrial Complex I Deficiencies” but her particular type is very rare. To date, only 6 people have been diagnosed with it in the United States and approximately 25 in the world. That said, it has only been known about since 2010, and can only be diagnosed through Whole Exome Sequencing – a complex and often expensive genetic test. We expect many more to be diagnosed with it in the future.

One of the patients (residing in the U.S.) has identical mutations to Katherine. We know a little about her through research papers.

Because there are so many types of Mitochondrial Complex I disorders and each is different, we sometimes refer to Katherine’s type as “NUBPL,” the name of the gene affected.

So what is NUBPL/Mitochondrial Complex I Deficiency?

When people think of “mitochondria,” many think of DNA from just the mother. This is true only with respect to some of the DNA making up the mitochondria. In fact, they are put together mostly from gene pairs with one gene from each parent (nuclear DNA), plus just a handful involving just one gene coming from the mom (mitochondrial DNA).

All of our cells (except red blood cells) contain mitochondria. The mitochondria produce the energy our cells need to function, to replicate, and to repair themselves. They are the “powerhouses” of the cell.

This “power” is produced through a series of chemical reactions taking place in 5 different physical structures. These are called complexes I through V (or 1 through 5). They work together like an assembly line. If a problem exists in one “complex,” it can harm production down the line in another, ultimately resulting in too little “energy” being produced.

Like an actual power plant, the process of producing usable energy also produces chemical byproducts that can be toxic. Our bodies clean these byproducts through, among other things, “anti-oxidants.” However, sometimes a person with a mitochondrial disease produces too many toxic byproducts for the anti-oxidants to work, leading to a build-up of toxins. This process is called “oxidative stress.”

Thus, a good analogy is a power plant with five buildings, each producing products that are sent down the line, ultimately producing energy from the final building, Complex V, while also producing polluted water that is filtered and cleaned by another facility before being released into a stream. A person with a mitochondrial disease has a problem in at least one building of the five. As a result, she may not produce enough product to be passed along and ultimately turned into energy to meet the needs of the cell (not enough energy is coming out of Complex V) or may be spitting out too much pollutant to be filtered and the water in the stream is getting polluted.

Either of these can result in premature cell death or impaired function.

The nature of these diseases is that they often cause damage over time — again, like pollution from a factory. Similarly, illness can increase energy needs of the body, and cells can become damaged because of their inability to meet the needs in times of higher demand. Both of these things occurs in all of us as we age (mitochondrial dysfunction is a significant contributor to the symptoms of old age, including wrinkles, loss of muscle, loss of brain function, clumsiness, and heart disease). Patients with a primary mitochondrial disease just suffer this fate differently, earlier, and in different parts of their bodies. Note, however, that this is not the “premature aging” disease. Regardless, by their very nature, these diseases often progress.

The extent to which Katherine’s particular condition, NUBPL, is progressive is not yet known. In most cases, it progresses to a degree – it has with Katherine. Fortunately, many of the patients have long periods without any advancement of the disease and many are thought to have become stable. The reasons are not clear, nor has the disease been known about long enough to determine if this is typical.

The patient with Katherine’s identical mutations is now 13. Our information is now 5 years out of date (it was in a 2010 research paper). As of 2010, she could walk with a walker and had normal intelligence. She had not had much regression after an initial period of regression experienced when she was a toddler.

Different cell types have different energy needs. Skin cells, for example, need little energy, so contain few mitochondria. Heart, kidney, liver, and brain cells, on the other hand, have high energy needs, so contain the most mitochondria. Liver cells, for example, may contain as many as 2,000 mitochondria per cell. As a result, these parts of the body are susceptible to “mitochondrial diseases,” either because the energy needs are not being met, or in meeting them too much “pollution” is being produced. Some of these diseases affect only one of these parts of the body, while others may affect multiple systems.

Katherine’s disorder is a problem in “Complex I,” thus the name “Mitochondrial Complex I Deficiency.” This is the largest of the five complexes, the one involving the most genes for its assembly and function. It is the most common place for these diseases to arise.

Knowing that Katherine has a disorder in Complex I tells you very little. Returning to the power plant analogy, it is like telling you there is some sort of problem in “building one” of a five building complex, but not knowing what that problem is; it could be something small, like a clogged toilet, or it could be something large, like the complete collapse of the building. The devil is in the details.

Some Complex I deficiencies are quickly fatal. Others are far more benign. Indeed, it is likely that many are so benign that a person can live a long healthy life without knowing they have a disorder. Still others may suffer problems only late in life, such as developing Parkinson’s or heart disease.

Thus, Mitochondrial Complex I Disorders can range from quickly fatal to unnoticed and insignificant. No known patient has died from the disease and only one has died at all (from what is not clear, nor is it entirely clear that NUBPL was the only condition he had, as he was the first NUBPL patient and died before current testing methods were developed).

In Katherine’s case, the gene affected, NUBPL, is “nuclear,” meaning she inherited one gene from each of us. In order to manifest as a disease, Katherine had to receive one mutated gene from both of us – one mutated gene and one normal one will not result in disease, but only “carrier” status (Glenda and I are both carriers, each having one mutated gene, but not two). Having a single mutation of this gene is rare. Having parents who each have one mutation of the gene, rarer still. Having both pass one mutated gene to the child is extremely rare (there is only a 25% chance that two carriers will have a child with two mutations) – lottery-level odds (more people win the Powerball each year than are known to have NUBPL, worldwide).

Because it is so rare and so newly-discovered (discovered in 2010), not a lot is known about Katherine’s form of Mitochondrial Complex I Disorder. What is known or suspected is as follows:

The NUBPL gene is known as an “assembly gene.” This means that it is not part of the physical design or structure of Complex I, but is a gene that contributes to its assembly. In particular, it is involved in the assembly of “iron-sulfur clusters” that transfer electrons during the chemical reactions in Complex I.

Think of it as Katherine having an accurate blueprint for “building one” of her power plant, but someone used defective wiring or put the wiring in it the wrong way. What this means is not fully understood. One possible result of this is that the electrons that are supposed to be carried by this “wiring” may leak out and be transferred to chemicals other than those intended, producing the toxins referred to above (known as “Reactive Oxygen Species” or “ROS”).

While it would seem like this defect would affect the mitochondria throughout the body (and NUBPL patients must monitor all systems to make sure problems do not crop up), to date, NUBPL mutations seem concentrated in the brain of patients. While some NUBPL patients have issues throughout the brain, most are concentrated in the cerebellum.

Katherine is fortunate in that her brain appears to be spared except for the cerebellum and one very small inflammation in her corpus callosum that has not changed and may well resolve or never affect her in any way.

As far as energy production, Katherine’s Complex I residual function appears to be low normal in fibroblasts grown from her skin cells. No brain cells have been tested due to dangers from brain surgery. This is where it is likely to be most affected, so low normal residual function does not tell us much about her brain issues. She does not appear to lack energy, in general (a common issue in “mito kids”) – and exercise is likely good for her.

The cerebellum is not the part of the brain primarily involved in “higher” brain functions, nor is it involved in the autonomic functions (like breathing and heartbeat). That said, there are connections between the cerebellum and cognition in many cases (the role of the cerebellum in cognition is not fully understood). Some NUBPL patients have lower than normal cognitive abilities, while others (including the person with the same mutations as Katherine) have little to no cognitive impairment at all. This may depend on whether other areas of the brain are affected and to what extent, or it may be happenstance of what part of the cerebellum is or may come to be affected. We just don’t know.

We do know that the cerebellum helps regulate and direct the signals coming into and out of your brain. For example, the cerebellum does not initiate the signal from your brain telling your legs to move. However, that signal passes through the cerebellum before it is sent to the legs, and the cerebellum helps direct it and tell it how much pressure, strength and speed to use. The leg then sends the signal back the brain to tell it what has happened. That signal also passes through the cerebellum before being sent to the part of the brain in control of the leg. With a damaged/abnormal cerebellum, those signals can get mixed up, amplified, muted, or misdirected. This results in clumsiness, difficulty controlling the force or pressure of one’s muscles, difficulty writing, poor articulation of speech, poor motor planning, and a lack of coordination when walking, clapping, playing patty-cake, etc.

Because these signals travel through the cerebellum thousands of times per second from all parts of our bodies, significant problems can occur. As an example, the simple (to most of us) act of standing, alone, requires thousands of these signals to pass through the cerebellum each second; nerves of the ankles, feet, knees, thighs, torso, arms, neck, and head signal the brain about what they are doing, the inner ear tells it up from down, the eyes tell it what is going on around us, etc. These signals pass through the cerebellum, are regulated, and passed on to the higher brain for interpretation. That higher brain then decides what to do, and signals back how the body needs to adjust given all the signals coming in from all of these body parts. Maintaining balance while standing is a coordinated and complex function—one that modern computers could not hope to replicate – that we take for granted and do not even think about. That is not the case for Katherine. Katherine’s entire “balance center” of her cerebellum is the most affected, making balance a daunting task, requiring a great deal of concentration. It is like a normal person trying to walk a tight-rope in windy conditions. Add to that trying to coordinate all of these body parts to walk, and the task is beyond her current abilities.

The brain is remarkably adaptable, however. People suffering from significant brain injuries can re-learn to walk, talk, and function. Repetition and rehabilitation allow the brain to make new pathways and connections to do what it once did elsewhere.

Sensory input is hard for Katherine to process. She can be overwhelmed by chaotic environments, as her brain is not telling her what is going on in the same way as the rest of us. She processes things more slowly. This probably is not so much of a function of her higher intelligence, as her body’s way of communicating between her senses and her higher brain.

You can expect Katherine to be off balance. She will have trouble with writing. She may become overwhelmed or confused by sensory input. She will have trouble articulating her words. She will have difficulty controlling the volume and pitch of her speech. She will be clumsy and uncoordinated. She does not yet have a good grasp of the body’s “potty” warning signals — she is better at telling you she has gone, than telling you she is about to go. All of these things can frustrate her, cause her to withdraw from others at times, or become anxious. That said, she has a very good vocabulary and understanding of things.

Children with Mitochondrial disease have some difficulty controlling their body temperature, can become fatigued, need to stay hydrated, and can suffer more when ill than other children. So far, these do not appear to be problems with NUBPL patients, other than some worries when they become ill. However, there are things to be aware of in case they occur.

Katherine is currently on an experimental medication called EPI-743 (or is on a placebo. She will receive 6 months of both over a 14 month double-blind clinical trial). It is part of a clinical trial run by the National Institutes of Health. This is essentially a very potent anti-oxidant, thousands of times more powerful at the cellular level than any anti-oxidant you can get in food or supplements.  While administration and action of the medication in the body is a far more complicated thing, in a laboratory setting fibroblasts grown from her cells demonstrated susceptibility to oxidative stress (discussed above) and an 80% or higher return to viability from administration of the medication. We hope that predicts that the EPI-743 will clean up the toxins she may be producing and will help her cells produce energy, and arrest any progression of the disease. It could do more.  While it cannot revive dead cells, it may save those that were damaged and dying, and allow them to function better, improving her condition (along with physical and occupational therapy), not just arresting its decline.

She also is on a compounded medication commonly called a “mitochondrial cocktail” that does many of the same things in different ways, as well as supplement one of the chemical products of Complex I, being a substance called Ubiquinol, a form of CoQ10.

We lived with a misdiagnosis that guaranteed us that Katherine was going to die in the next few years. The NUBPL diagnosis is serious and full of unknowns, but “serious and unknown” is better than “known and hopeless.”

We want to stress that we think it is important for other children and their families to understand Katherine. This provides insight into the rare disease community in general, mitochondrial disease patients, in particular, and Katherine, individually. It will help them get to know Katherine (and others like her) and explain why she cannot walk or do other things they take for granted.

Tips for Successful Legislative Advocacy

In April 2016, Kentucky became the first state in the country to pass legislation that mandates private insurance cover prescribed vitamins and supplements for mitochondrial disease patients.

Twice a day our five-year-old daughter takes a compounded mixture of vitamins and supplements known as a “Mito cocktail.” Prescribed by her neurologist, this cocktail has shown many positive results, including increased muscle tone, stamina, stability, and a lessened intention tremor.

To date, the Mito Cocktail is the only treatment currently available for mitochondrial diseases.

However, less than 10% of insurance carriers cover this needed medication. Although Kentucky law already mandated coverage, our private insurance carrier continued to deny coverage every month, even going so far as to insinuate that our daughter takes it for “cosmetic purposes and performance enhancement.”

Frustrated and angry over the blatant wrongdoing by insurance companies, we decided it was time to clarify what was already mandated in existing Kentucky law.

Over the past few months, many have asked for advice so they can duplicate our success in other states. Before offering a few general tips to help get you started, I would be remiss not to mention that, combined, my husband and I  have a legal and policy background. We have good friends who are Kentucky state legislators and we are familiar with the political players of our state. Further, since 2013, we have become vocal, well-known advocates for our daughter through our various social media accounts, our blog, Hope For Katherine Belle,  as a contributing writer for the The Mighty, and by appearing in The New York Times Motherlode Blog. Yes, our careers and platform were instrumental in the speed with which we passed this bill, but don’t be discouraged if you don’t have a similar background.

Finally, I believe timing played an important role in rapid passage. During the same session, Senate Bill 146, known as “Noah’s Law,” called on insurance companies to cover amino acid based formulas, just as we were calling on insurance companies to cover prescribed vitamins and supplements for mitochondrial disease patients. Early passage of Senate Bill 146 and subsequent publicity was fortuitous: Legislators became familiar with the ways insurance companies manipulate language to deny coverage for medically fragile patients. Senate Bill 146 sponsor and physician Senator Ralph Alvardo had another bill filed relating to insurance – Senate Bill 18 – to which the following floor amendment was later added:

HFA2/HM( R. Smart ) – Amend KRS 304.17A-258 to specify that mitochondrial disease is an inborn error of metabolism or genetics to be treated by products defined as “therapeutic food, formulas, and supplements” and that health benefit plans that provide prescription drug coverage shall include in that coverage therapeutic food, formulas, supplements, and low-protein modified food products for the treatment of mitochondrial disease; specify that this act shall take effect January 1, 2017.

Tips for Successful Legislative Advocacy: 

1. The best advocate is an individual personally affected by the proposed legislation. Although a legal and policy background is helpful, it is not required to be an effective advocate for your child or yourself. Advocacy work is not for the faint at heart – it’s a slow, frustrating, deeply personal process, and, arguably, the most crucial part of the  legislative process. With hundreds of bills filed per session, legislators depend on advocates to educate them about a subject matter and, as the expert, you are the most qualified person for the job.

2. Request a face-to-face meeting with your representatives or their staff during the slower months between legislative sessions.
They represent your interests and should be willing to listen to your concerns. Tell your representatives your story. You are the expert; teach them everything they need to know. Schedules are packed during session, so it’s best to establish a relationship well before the start of session – this will give you ample time to tell your story and draft any proposed bill language. Likewise, meeting with legislators is an excellent way to learn more about the internal dynamics of your state legislature. Your legislator may not be able to help you directly, but they can help you navigate your way to the person who can be most helpful. And trust me, if you worked around legislators, you would quickly realize there’s no reason to be intimated by them. Yes, they are public figures, but they’re human just like the rest of us.

3. Do your homework and be specific.
While your personal story is the most powerful component, be prepared to share any relevant medical and scientific research as it relates to your cause. Likewise, you have a much better chance of success if you can present legislators with a complete package of drafted legislation, including where it falls in your state’s statutory scheme, as well as any statistical and economic information related the bill.

4. Create a “buzz” for your cause.
Establishing a “presence” through social media is a powerful tool to communicate your cause. Don’t limit your audience to just your own district or legislator – increase your reach across the entire state. For example, create a Facebook page dedicated to your legislative efforts, contact local media, or involve support organizations to broaden your reach. Ultimately, the bigger the “buzz,” the harder you are to ignore. For example, our daughter’s Facebook page and blog has a strong following. When we made the call for action, people listened and acted. Providing simple to follow links with letters to copy and paste and telephone numbers to dial, our grassroots strategy quickly gained momentum across the state. Voters were voicing their support for SB18 and legislators were listening to what their constituents were telling them. Just as you presented a complete package to your legislator, it’s as important to present a complete package to your supporters.

5. Know your audience and be prepared for the unexpected.
Do your research on the political climate and the key players in your state legislature. Even though your cause should be a non-partisan issue, I cannot emphasize enough the role politics play in the legislative process. Although this may not always be the case, brace yourself for the ugliness that is involved in the making of laws. Understand beforehand that it is within the realm of possibility that your cause will be used as a political football. Powerful opponents may come out against you. Establishing a public presence and creating a “buzz” for your legislation is key leverage should you need it. There is only so much a legislator can do from inside the legislature to get a bill passed. Your outside advocacy strategy may play an even more important role.

6. Never give up.
You are unlikely to succeed the first time you try to pass any legislation. Keep trying. Involve more advocates, make more alliances with key legislators, and never stop advocating for your child. Nothing on this planet is more powerful than a parent’s love for their child.


If you’ve followed along since the beginning, you know the significance of these numbers.


In past years, Katherine’s birthdays have been bittersweet, especially her third birthday.


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Unbeknownst to me when I ordered it, this birthday crown is 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.


Looking back, we realize that every prior birthday has greeted us with worries. By her first birthday, we knew something was wrong; our expectation that she would walk prior to turning one proved untrue and her motor development had stalled. Our nagging worry at one was a gut wrenching terror by two; she still was not walking. On her third birthday, we were living under a death sentence and the day was a bittersweet reminder that we probably had few such occasions left…Today, we have a new – an accurate – diagnosis, NUBPL, Mitochondrial Complex 1, and a new hope. This is a happy day and one of many more to come.

As I carefully placed those five pink and purple candles on top of her cake, a sense of relief washed over me. The haunting statistic that “30% of children with rare and genetic diseases will not live to see their fifth birthday” is now behind us. Yes, there are many struggles ahead, but it’s an indescribable moment to see those happy and beautiful sparkling eyes glowing in the light of five birthday candles.


Soon after Katherine’s (mis) diagnosis in 2013, I wrote the following:

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.

I have cried many tears in the last three years from witnessing the physical decline and death of numerous children with rare diseases we’ve met through social media. Instead of planning birthday party celebrations and school graduations, I have watched families plan funerals and suffer more than any human ever should.

As we continue ahead beyond this fifth birthday milestone, my own words lead me into the next chapter:

The past few years 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.


Next Stop: Kindergarten

What a year for Katherine and our family. This has been a year full of change, including a new community, a new home, and a new school.

Last August I dropped her off for her first day of school and she never looked back. Not once.


We made six trips to Bethesda, Maryland to the NIH for her clinical trial.



She had one or more therapies a day, which included early Monday mornings before school and Wednesday afternoons away from school. She even conquered her fear of water in Aqua Therapy (swim lessons this summer).


She took her first independent steps and continues to grow stronger daily.

She made a special trip to the beach with our dear friends.


She made new friends and ate a lot of cupcakes.





She did all the things I always hoped she would do, but feared would never happen. And she did things I never imagined my child would ever have to endure, but she did them all with a brave face, a good disposition, and a maturity beyond her years.



Katherine is only four, but she has been through a lot, from hospitalizations, to medical testing, to constant therapies, and coming to terms with her own disability and disease. She is a tough child. She’ll be the first to tell you that she’s never sick or tired. She isn’t afraid of life or her challenges. I watch her fall down at least 25 times a day…and get right back up 26 times.


At the end of the day, though, I constantly remind myself that she’s just four (almost 5) and really needs time to sit back, relax, and enjoy doing nothing but being a kid.



As this school year comes to a close, I  want to take this opportunity to say thank you to Katherine’s teachers at Model Laboratory School. We are beyond blessed with teachers who understand her challenges, yet see her potential; understand that not all students learn the same way and encourage her to express true self; listen to our concerns and help in any way they can; and creatively find ways to help her learn and measure her understanding – all with love, patience, and a true enjoyment for their profession. Thank you, Ms. James, Mrs. Ballard, and Mrs. White. Thank you to all of her teachers and therapists. She loves you, emulates you, and says she wants to be you when she grows up.

Thank you for setting such a great example for her to follow. We will miss you very much. We admire you and thank you for giving her a strong foundation for her love of learning.


Kentucky’s Children Need Your Help – Senate Bill 18

Twice a day Katherine takes a compounded mixture of vitamins and supplements known as a “Mito cocktail.” Prescribed by her neurologist from the Cleveland Clinic, this cocktail has shown many positive results, including increased muscle tone, stamina, stability, and a lessened intention tremor. We hope it also is warding off the progressive cerebellar damage her condition can cause.

Mitochondrial diseases disproportionately affect children and can be life-shortening and debilitating. Mito cocktails can increase the lifespans and quality of life of these children. They are the only treatment currently available for mitochondrial diseases.

However, less than 10% of insurance carriers cover this needed medication. Our own carrier has denied us every time for various reasons, including the ridiculous insinuation that Katherine is using it for “cosmetic purposes and performance enhancement.” They currently refuse to cover it because she needs it compounded – she cannot swallow pills.

The monthly cost for Katherine’s Mito cocktail is $250. For others it is much higher, as it will be for Katherine as she grows and needed dosages are increased.

Dave and I decided to take this matter to the Kentucky House of Representatives with the hope that clarification of existing law would make right what insurance companies abundantly abuse. The unfortunate reality is that insurance companies manipulate policy language to their own benefit – all at the expense of medically fragile children and their economically struggling families.

With the support of Senate Bill 18 sponsor and doctor, Senator Ralph Alvarado, Representative Rita Smart added an amendment that would clarify existing law:

HFA2/HM( R. Smart ) – Amend KRS 304.17A-258 to specify that mitochondrial disease is an inborn error of metabolism or genetics to be treated by products defined as “therapeutic food, formulas, and supplements” and that health benefit plans that provide prescription drug coverage shall include in that coverage therapeutic food, formulas, supplements, and low-protein modified food products for the treatment of mitochondrial disease; specify that this act shall take effect January 1, 2017.

The House approved it 96-1 and sent it back to the Senate for committee approval.

We have been informed that Senator Alvarado and others worked tirelessly for two years on SB 18. And from public record, we know that prior to Representative Smart’s Mito Amendment, SB 18 passed the Senate (30-8). They refused to pass it with the amendment, sending it back to the House to remove it.

What changed? At this time we do not know for certain. The Senate said they would NOT pass SB 18 with this amendment attached to it – all at the expense of children with Mitochondrial Disease.

I applaud the Kentucky House of Representatives for standing up and saying no to removing this important amendment. It is now in conference, which means that either the House can agree to remove it, leaving our sick children uncovered, or the Senate can agree to the amendment, giving them coverage for the only medicine that exists for their condition.

Please stand with us and let our unified voices be heard: We will NOT go away quietly or without a fair fight – Katherine Belle and everybody else’s Katherine Belles DESERVE better. Contact your representatives in the Kentucky House and Senate to ensure passage of SB 18 with this important Mito Amendment attached to it.

  3. You will be directed to your representative where you will see a blue link with their email address. Once you click on “email,” a form will appear where you can type your information and a message. You can copy and paste the following:I support Kentucky’s children. Do you? If so, I respectfully request that you pass SB 18 with Representative Rita Smart’s Amendment: HFA2/HM( R. Smart ) – Amend KRS 304.17A-258 to specify that mitochondrial disease is an inborn error of metabolism or genetics to be treated by products defined as “therapeutic food, formulas, and supplements” and that health benefit plans that provide prescription drug coverage shall include in that coverage therapeutic food, formulas, supplements, and low-protein modified food products for the treatment of mitochondrial disease; specify that this act shall take effect January 1, 2017. This amendment is important to me and the medically fragile families of Kentucky.
  4. Please share this post with your network and encourage them to do the same. The clock is ticking, so please help us spread the word as quickly as possible. Thank you! You are a part of positive change.




3 Things I Want To Tell the Mom Receiving A Rare Diagnosis

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.

5 Tips for Appealing Genetic Testing

You just experienced the shock of learning your child has a rare disease and now your doctor recommends genetic testing as the next step.

Brace yourself for shock #2: In most cases, genetic testing is not covered by insurance. In other cases, genetic testing is covered under limited circumstances.

Insurance companies are in the business of collecting premiums, not paying claims. The term “healthcare” is a tricky word in this context: Don’t confuse a business that makes a profit from premiums with actual care. The harsh reality is that as a business model, they generally do not care about your child’s health if coverage reduces their profit margin.

Coverage for genetic testing is routinely rejected because companies can do so without fear of backlash. In other words, anything that doesn’t affect the majority of its policyholders is up for grabs. The very name “rare” disease sends a signal to the reviewer that denial of coverage won’t create a big enough stir.

Simply stated, the system is against you.

That said, we have received countless denials from two different insurance companies over the past three years, and have successfully appealed every single one. Here are a few tips for the appeals process:

1. First and foremost, have a current copy of your insurance policy.

If you don’t have one, contact them immediately and request a copy. It is your right as it contains everything covered under your policy. Keep a current copy handy for future use, because, unfortunately, this will not be the last time you’re going to need it.

2. Know your rights.

A) If your claim is denied, you have the right to an internal appeal, meaning you can ask your insurance company for a full and fair review of its decision; B) You often have the right to demand a specialist in the applicable medical field perform the review if denial was based on medical criteria. Request it. These specialists will have more independence and a better understanding of rare disease patients and the value of genetic testing; and C) You have the right to an external review from an independent, third-party – keeping in mind that their “independence” is debatable.

3. Ask your doctor to write a letter.

Most doctors are well versed in this area and will likely mention it when they discuss genetic testing with you. If not, initiate the conversation and coordinate their assistance.

4. Request all documentation related to the claim.You have the right to copies of all documents, letters, and peer-to-peer reviews related to the matter, and all guidelines, protocols or other criteria on which the decision was made for denial.

5. Consider the assistance of an attorney.

There are plenty of attorneys who offer pro-bono (FREE!) assistance. Ask around your community and groups.

Now you are ready to appeal. I like to include a photograph of my child with the appeal letter. Whether a picture is effective or not, I want the reviewer to see the human side of the appeal.

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