About Katherine Belle

Katherine Belle was born healthy on July 9, 2011, and she developed normally for the first year of her life. But when she wasn’t walking at 18 months, she began physical therapy to help her learn to walk. Around this time, Katherine also exhibited signs of Sensory Processing Disorder (SPD).  This meant that everyday activities such as taking a bath, playing with sand, or sitting on a grassy lawn were overwhelming for Katherine, so she began occupational therapy as well.

When she turned two in July of 2013 and was still unable to walk, Katherine’s pediatrician referred her to be evaluated by neurologists at Cincinnati Children’s Hospital. After observing Katherine and noting a lack of balance and coordination (ataxia), low muscle tone (hypotonia), mild intention tremors (for example, her hands tremble slightly if she reaches for a toy), and gross motor regression (meaning she was standing on her own less frequently), the pediatric neurologists ordered an MRI and an MRS of Katherine’s brain.

The MRI showed a malformation of her cerebellum, the area of the brain that controls balance and regulates movement. This explained why Katherine was (and still is) severely off-balance and unable to walk without assistance. The MRS showed abnormal brain chemistry. Together, the results of these two tests indicated a likely metabolic disorder. The doctors in Cincinnati concluded Katherine likely had an incredibly rare genetic disease called Infantile Neuroaxonal Dystrophy (INAD). INAD is an inherited neurological disorder that affects axons, which carry messages from the brain to other parts of the body. It is known to cause progressive loss of vision, loss of motor control (including loss of previously acquired skills such as crawling and sitting), and deterioration in speech. There is no known cure for INAD and no known treatment that can stop the progression of the disease. Life expectancy for children with INAD is between 5-10 years of age.

We were sick with devastation.

Katherine then underwent genetic testing to confirm the INAD diagnosis. We were relieved when the test came back negative, indicating that Katherine did NOT have INAD. However, we were cautioned that it is possible in a small percentage of cases to receive a negative test result but still to have INAD. Following the genetic testing, we transferred Katherine’s care to The Cleveland Clinic, and over several months she underwent various tests as we attempted to further rule out the INAD diagnosis. Two skin biopsies, a spinal tap, an eye exam, and an EEG (which detects abnormalities in brain wave patterns) all came back normal. However, a second MRI performed in June 2014 – a few weeks before Katherine’s third birthday – showed the disease is progressing in her brain and has now taken over her brain’s entire balance center. Despite all the other normal test results, Katherine’s doctors at The Cleveland Clinic felt that her MRI was so consistent with INAD that they did not know what else it could be.

Receiving all those normal test results had built up our hope that she did not have INAD, so to be told “INAD” again was more devastating than we can find the words to express. In July 2014 we sent all of Katherine’s test results and medical documentation to Dr. Susan Hayflick in Oregon. Dr. Hayflick specializes in and researches only INAD. We decided to consult with Dr. Hayflick for a third opinion before allowing our hearts and minds to accept this death sentence of a diagnosis. To our surprise, Dr. Hayflick’s opinion is that it is unlikely Katherine has INAD. According to her, INAD patients do not normally show progression in an MRI the way Katherine does. Although many of Katherine’s symptoms are very similar to those occurring in INAD patients, ALL of the testing we have done so far – including, apparently, the MRI – have given results inconsistent with INAD.

Though we take some very cautious comfort in Dr. Hayflick’s opinion that Katherine is unlikely to have INAD, as of now we are still without a diagnosis, even after a year of extensive testing under the care of some of the best doctors in the country. And so our quest for a diagnosis for our three-year-old daughter continues, while the unknown disease progresses in her body.

Our next step is Whole Exome Sequencing through GeneDx, which is essentially a comprehensive and thorough genetic test. We are currently in a study at the University of North Carolina – Chapel Hill and will get those results around July 2015.

It is apparent that Katherine has a rare metabolic disorder, meaning that somewhere in her genetic makeup, something is coded abnormally. This abnormal coding causes her symptoms – her lack of balance, her inability to walk, her intention tremors, the progression in her brain. We just do not know where in her genes this abnormality exists. We already did one genetic test that indicated Katherine’s abnormality does not exist on the gene known to cause INAD. By doing Whole Exome Sequencing, we hope to find where the abnormality exists. If we can pinpoint that, we may be able to reach a diagnosis or at least perhaps get further answers. Right now, without a diagnosis, we do not even know what we are dealing with.  Ultimately, it is possible that Katherine could be a unique case, and that doctors and researchers could conclude she has a metabolic disorder unlike any ever seen before in anyone else.

February 2015, whole exome sequencing results through GeneDx revealed that Katherine Belle has a rare form of Mitochondrial Complex 1 Deficiency based on mutations to her NUBPL gene. (We have been told that there are between 20-50 confirmed patients – ALL diagnosed through whole exome sequencing, and we believe this number will continue to grow with increased testing). The mutations from us differ, Dad’s being a known disease causing mutation and Mom’s being a rare and likely disease causing mutation. What these particular mutations mean in combination is something we do not yet know. Her case looks odd since the gray matter is affected, while these mutations typically cause white matter abnormalities.

The relief of knowing Katherine’s disorder cannot be overemphasized. No one should be in the dark about what is affecting them or their child, yet half of rare disease patients are in this very position. It must change. Increased exome sequencing and research will help us unravel our genetic code and provide answers and treatments for the good of all. This is the future of medicine. Our prayers go out to the entire undiagnosed community.

We will continue to share our journey to help spread awareness about rare diseases, to connect with others in similar situations, and to tell the world about our daughter, Katherine Belle.  We hope you will share our story with others, as a chance connection may be what leads us to others with the same diagnosis, which will help us find our “community” and  push for treatment.

Katherine is our life’s greatest blessing. Thank you for following us on this journey.

Articles:

How To Become A Legislative Advocate For Your Child

When the Diagnosis Is Rare, Parents May Know More Than The Professionals

10 Practical Tips for Parents Feeling the Shock of a Rare Disease Diagnosis

Three Things I Want To Tell The Mom Receiving a Rare Diagnosis

Learning To Live In The Present With My Daughter With a Rare Disease

Glenda is a Mitochondrial and rare disease advocate, creator of NUBPL.org, a contributing writer for The Mighty and the regional blog, HerKentucky, and a freelance photographer. She serves on the Board of Advisors for the NGLY-1 Foundation. She attended the University of Kentucky, where she received a Bachelor’s in English and a Master’s from the Patterson School of Diplomacy and International Commerce. She was a civil servant in her former life.

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David is an attorney for Miller, Griffin & Marks, P.S.C., in Lexington, Kentucky, where he concentrates his practice in the area of civil litigation.  He attended the University of Pennsylvania, where he received a Bachelor’s in Finance.  He received his JD from the University of Kentucky.  He was an Associate Editor of the Kentucky Law Journal and was elected to Order of the Coif.

When he is not fighting rare disease and other villains, David spends time with his family and writing for his blog, Bourbon and Slate.

You may contact us via email at gcmccoy1@aol.com or dfaughn@kentuckylaw.com.

Click here to make a donation on Katherine Belle’s gofundme page.

For more information about NUBPL, please visit NUPBL.org.

18 thoughts on “About Katherine Belle”

  1. Please look into the ketogenic diet. Besides epilepsy, which my son is on it for, it is prescribed for multiple neurological and metabolic disorders including degenerative ones. Visit http://www.charliefoundation.com for a list. I know it has been found useful in Lafora body disease. Prayers for you and Katherine.

  2. Thank you, Leigh. One of the reasons we have started this blog is to get input just like this.

    Diet is certainly part of what we have to look at. Our new neurologist, who specializes in metabolic and genetic diseases, has advised us to wait on dietary changes until we know more about what Katherine may have. He warns that what is good for certain metabolic disorders can be toxic for others. for example, a recent blood test for Katherine showed “non-diagnostic elevations in her acylcarnitine profile.” We have repeated this test with Katherine fasting, and do not know what, if anything, it means at this point. However, it could indicate a disorder involving fatty acid metabolism. In most of these disorders, the diet must be low fat, high carb, the opposite of what I understand is involved with the ketogenic diet. In some, you take supplements of L-carnitine, while in other forms, that is toxic. We will certainly raise this and other dietary issues with the physicians as we move along this path.

    Dave Faughn

  3. My child has a 4q deletion, often with this changes are seen in the brain, walking is delayed, language is affected profoundly. In our case, a karyotype showed the issue… and knowing what genes were affected helped us realize that she was having some occult issues in coQ10 production that were affecting her. We started supplementing with CoQ10 and saw rapid improvement in her language, not a total cure (didn’t expect one) but a help. Then we added R-lipoic acid, and after some tinkering and experimenting found that if we had her on specifically SmartQ10 from Enzymatic Therapies and GeroNova K-RALA 10 liquid (5 drops is enough for her at 50 pounds!) that her improvements were dramatic in language. She learned to walk at 5 1/2. Her balance is still iffy, but she can run. Most important, she’s stopped losing skills. For a long time before we started supplementing, she would lose a word every time she gained a word, which was heartbreaking.

    R-lipoic acid may be a particularly low-risk thing to try. The big advantages include helping protect the cells from metabolic damage, and helping the body make better use of the antioxidants it produces itself. 1 drop of the K-RALA per 10 pounds of body weight is a very low dose that has nevertheless provided huge gains. R-lipoic acid is a very low risk high benefit supplement, worth discussing with your child’s doctor. Shiny has taken as much as 300 mg without ill effects, with a well-absorbed form she’s now only taking about 20 mg.

  4. Our son has Aicardi Goutieres Syndrome (not to be confused with Aicardi Syndrome). After an initial low grade fever that would not go away at 2 months after receiving his 2 month shots, he finally had a CT scan ordered that showed calcification in the basal ganglia. He went through a long period of testing because we were told that he had a metabolic disorder (all tests came back normal). Mother’s intuition told me that we were going down the wrong trail so I kept looking. His CT scan report stated “possible Aicardi Goutieres Syndrome” but the doctors thought it was too rare and unlikely. I did my own research and found Dr. Yanick Crow in Manchester, England. He is the lead researcher for this disorder and was willing to take a look at my son during the US conference at Children’s National Medical Center (held every two years-the 2014 conference should be in October). Our son does not have all the symptoms (no skin problems) of the disorder and is a pretty normal kid despite the fact he does not walk on his own and his communication is still developing. At age 5 years, we finally received the results of the gene testing to confirm the diagnosis. I hope this is helpful, if not leading you to a diagnosis for your daughter, then as a demonstration that your persistence and decision to focus your energy on your daughter will result in answers. All the best.

    1. Laura, I am happy your persistence paid off. We know about children our own children far better than the physicians. We are a critical part of the diagnostic team and most good physicians are willing to listen to our thoughts and concerns. I hope our persistence pays off as well.

      Dave

  5. We lost my step brother to this disease in 2004 just a little over a month and half shy of 11 years old. It was the hardest thing I’ve ever dealt with. I still miss him and think of him every single day. It’s a terrible disease but do not lose all hope. My step-sister also has INAD. Her mom was told she would not live to be 9 years old. That amazing beautiful strong young lady will be 23 on October 18th. She is living proof that you can beat the odds. Stay positive, and stay strong!

  6. Complete and total shot in the dark but have they considered Rett Syndrome? I have a friend with a daughter with Rett Syndrome and her story is similar to the progression you describe. Probably not the same thing, just tossing it out there. Blessings!

  7. My daughter is also undiagnosed. She is 4 1/2 years old and was born seemingly healthy, too. She started having FTT and developmental delay symptoms around 6 months old. It took a long time for doctors to take us seriously, and for them to cross off all the ordinary, common problems. We recently completed WES through Baylor. Unfortunately, she is still undiagnosed, but I have hope someday, we will have an answer. I’d love to get in touch with you. 🙂

  8. I sent you an email Glenda with information I am copying here in case it may help others.

    Dear Glenda,

    I read the story in the NY Times, which lead me to the blog for your daughter, Katherine Belle.

    As I read the about section on your blog, I had chills and hope I may be able to guide you on a stone left uncovered. Our own son, who was a former athlete and high achieving student, was debilitated and lost the ability to walk many days at age 11-12. It took nearly a year of serious research and advocacy to find the answer – Lyme and 6 other co-infections. Standard labs for Lyme disease are woefully unreliable. We did not ever see a tick, or a rash. We live in Florida, which is considered to be low risk for Lyme (but we have now learned otherwise).

    Our son also developed SPD and mitochondrial dysfunction (a metabolic disorder) secondary to Lyme disease. Our son had elevations in his acylcarnatine profile, that shuffled upon retesting (i.e. he still had elevated values, but which chains were abnormal changed, suggesting an acquired vs. genetic cause). Hypotonia, tremors, balance disorder and apraxia are also seen in children with Lyme. Lyme can also cause an ALS presentation with degenerative changes.

    Lyme can cause changes to the cerebellum: i.e. http://www.med.nyu.edu/content?ChunkIID=191914

    We took our son to a large number of highly respected doctors flying across the country, all of whom missed Lyme Disease. Doctors often fail to look for Lyme, or alternatively, rely on tests that miss 1/2 of actual cases (pursuant to numerous peer reviewed articles). If you are interested in exploring this area, I would be happy to put you in touch with knowledgeable doctors. Whereas our pediatrician and neurologists opined that they had “ruled out” Lyme, our Lyme specialist disagreed. As a leap of faith, we listened to the Lyme specialist, a Lyme Literate Medical Doctor known as a LLMD. Thankfully, our son responded well to treatment for Lyme and co-infections. He was able to return to school for 7th grade, and sports last year in 8th grade (earning a high school varsity letter in swimming and a JV letter for track). He is currently taking honors classes for 9th grade and excelling on the swim team. It is critical to note that there is a huge divide in the standard of care for Lyme – ILADS vs. IDSA. Following the ILADS approach, we were able to heal our son. Had we followed the narrow IDSA approach, I am thoroughly convinced that our son would be in a wheelchair now instead.

    Sending prayers and positive thoughts for you and your sweet Katherine Belle.

    Melissa Bell, JD
    Florida Lyme Disease Association
    http://www.FLDA.org
    https://www.facebook.com/FloridaLymeDiseaseAssociation

  9. I was getting ready for church this morning while reading the article in the NY times and then visited your site here. I’m reeling with all of the thoughts of the similarities between our daughters- difficulty with balance and walking, SPD issues, seizure activity, brain atrophy, significant language delays, fine motor issues, and the list goes on. My daughter, Tyley Sue has been diagnosed with a rare genetic disease, deletion of 11p14.1. We are awaiting a full exome with the possibility if more deletions as well. We found out earlier this year the results of her testing after fighting for answers since she was a few months old. I found a doctor at the national institutes of health in Maryland that was able to help us. We are still not sure if there are some mitochondrial issues as well or not, that is our most unknown area. We know a lot more than before about her deletion and we know so far, she’s the only one with this exact gene sequence deletion. They have taken her stem cells in hopes to find a cure through more research to replace the cells that have inhibited her brain growth- there hasn’t been any brain or heard growth since she was 18 months- she’s now 3 and a half. I would LOVE to connect with you somehow to ask some questions about what all Katherine has and compare information that may help us or you! You can check out Tyley Sue’s Facebook page at http://www.facebook.com/Tyleysue or my blog at http://www.ourfutureheartbeat.com. Of course I provided my email for you too:)

  10. My son has SYNGAP..he has some of the same symptoms. He did not walk until he was 22 months. He was just diagnosed with absent seizures and is non-verbal. We also had the Whole Exome DNA testing. Good luck to you..Know there is a huge Rare Disease Community out there to support you! 🙂

  11. My daughter, Annalee, is 17. When she was born, all appeared to be normal, however, she seemed weaker than my 2 boys. She met milestones such as crawling and sitting up – but seemed to fall over a lot. When she started trying to walk,. she fell all the time. Drs did an MRI which was basically unremarkable. We were given a diagnosis of mild cerebral palsy – even though they did not feel that was the diagnosis- and began speech, OT and PT. Annalee has balance issues, hypotonia and stuttering, vision issues and tremors. All genetics and metabolic testing was normal. We continued on with therapies for the next few years. My younger sister had been diagnosed with breast cancer and lost her almost 4 year battle. It was then that I decided that someone had to be able to tell me something. Annalee and I went to the Kennedy Krieger Center and to Johns Hopkins in Baltimore. We had a 2nd MRI which showed lesions on the basal ganglia of her brain. It was then that drs did more testing for a metabolic of genetic condition. They tested before and after fasting and determined that she had a mitochondrial disorder. Her alanine levels were off and this is what led to the diagnosis. Annalee went on the mito cocktails of a vitamin mix (C,E,Lipoic acid, etc), carnitine, CoQ10.
    She has a shadow at school as she could walk only short distances and used a stroller at school. However, in the 4th grade, she got the flu and it sent her body in a tailspin. She had been sick before but had never reacted this way. She was in the hospital for several days and when we got out, seemed to be doing much better until that night when she started gasping for air. She went back into the hospital – this time ICU- where it was discovered that she had proximal renal tubular acidosis. She was out of school for the rest of the year – almost 3 months – and had to learn how to walk – or toddle as she had before – all over again. She never regained to the strength had before but is still the happiest child I know. She is in special ed and is in her senior year at school. We have had several other tests – one being the exome sequencing – but we have never had the complex narrowed down. Annalee uses a wheelchair at school and a walker – and us – around the house. When I read your notes about falling 25 times a day, I could relate. Annalee still falls – even with us and the walker – however she is 5’2 and weighs 125 lbs now. Physically, it is hard lifting, bathing, etc but she is such a light in our world!
    It was very interesting reading about the clinical trial.
    Thank you so much for all of your information and I hope that sharing our stories can help!!
    Monica Loving

    1. Thanks so much for sharing your story, Monica. I’m curious when you had genetic testing done for Annalee? Katherine’s disorder has only been known about since 2010. Wondering if you’ve ever considered retesting or have result re-analyzed?

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