Saturday, July 26, 2014

Loaded for Bear -- A Rare Disease Diagnosis

"Loaded for Bear", definition:  To be prepared, mentally and/or physically, for extreme opposition; typically used in reference to an aggressive or potentially violent situation.

The phrase originates with American hunters and woodsmen in regions frequented by the brown bear. Brown bears are the largest land-based predator on earth, and when expecting to deal with them the hunters would bring much more powerful rifles than they would if hunting other game.
  Urban Dictionary

July 26, 2014

I just returned from Fedex.  I've been working on a letter for Biomarin's officers, board of directors and medical advisory board for the last couple of months.  I know.... a couple of months how ridiculous.  I write letters all the time, not just regular letters, but highly persuasive letters... letters that secure millions of dollars for my clients.  However, this letter was different.  The letter is an attempt to persuade a "corporation" to take an interest in Maya's disease and perhaps save her life.

About a year and a half ago we realized that (our now 11 year old daughter) Maya's "differences" were not normal.  When I held Maya's and her brother's hands on the way to class, it seemed weird that Maya always seemed to tug and pull on my hand.  It was such a contrast to the way her brother held my hand.

My mom commented that Maya seemed "off balance" and we should get her checked by a neurologist.

After months, we finally had an appointment.  The neurologist did a couple of basic tests as part of his examination (finger to nose, hop on one foot, walk across the room heal to toe) and it was very clear that something was very, very wrong.

The neurologist thought that the bouncing (lack of tracking) of Maya's eyes was indicative of ataxia telangiectasia.  The blood work eventually said no.  The Athena Panel for known forms of Ataxia eventually came back inconclusive.   After a year of blood tests, spit tests, Exome sequencing and eventually a trip to Massachusetts General we had a diagnosis:




Some of you may recognize a "TPP1" mutation as the source of the most common Neuronoal Ceroid lipofuscinouses disease (NCL)... CLN2 or "Batten's Disease".  Batten's Disease is a devastating disease and the parents and community who are fighting the fight are amazing loving people.  Learn More Here.

Maya does not have Batten's, however her condition is caused by mutations in the same gene that causes Batten's.  Effectively, Maya's mutations of the TPP1 gene means that she has residual (~13% of normal) levels of TPP1 activity and kids with Batten's have a roughly zero level of TPP1 activity.

Those of you in the Ataxia community will recognize SCAR 7 (Autosomal Recessive Spinocerebella Ataxia 7) as the type of Ataxia reported as occurring in six of twelve siblings from a Dutch family and one other unrelated Dutch woman.  All, as of the date of this blog, are alive and well in their 40s, 50s, and 60s.  According to the literature, their SCAR 7 has slowly progressed and several have lost the ability to walk.  We don't know much more about their condition.

Guess what... Maya is not Dutch.  Outside of enjoying Dutch soccer, we don't have a connection to the country.  My wife is from the Northeast Kingdom of Vermont and is of French Canadian ancestry and I am African American.

The Challenge.

Since Maya is the eighth reported SCAR7 case (in the world) she does not "have a community" and science/medicine is slow to catch up to  her reality.  They consider Maya's phenotype as "mild".

I beg to differ... there is nothing "mild" about watching your child slowly lose her ability to walk.  To watch your child struggle with her "differences" in school.  "Mild" provides little comfort, when she falls, when there is a new scar or when she cries, because she doesn't understand why her body is revolting against her.

Maya sits between two powerful and mobilized communities in a sort of DMZ.  She is between the Batten's Disease community (a group that is active and hopefully making progress towards meaningful treatment)... read more here and the Ataxia community which appears to believe that SCAR 7 is an ultra-rare disease only occurring in a single Dutch family.

In order to find a cure/help for Maya, we need to find more kids and adults with Maya's exact phenotype/diagnosis.  The more we find, the more science, medicine and the respective communities will pay attention and join the fight.

Ultimately, answers to Maya's condition will help the Batten's community (i.e., determining the necessary therapeutic levels of TPP1 replacement enzymes for kids with Battens) and the Ataxia community (i.e., our path to a SCAR7 diagnosis was lucky... I suspect that there are a number of children and adults with Maya's symptoms (or the natural progression thereof) who are simply un-diagnosed but have TPP1 mutations).

If you are out there, then we need to find you.

The Ask

Are the symptoms familiar?  Yes, does it make sense for you to take a test for NCL mutations.  

Are you a match?

I look forward to meeting you....

Please like/share and forward this message.


  1. Oh my goodness. We are not dealing with Ataxia, but I absolutely understand the frustration of trying to work with no diagnoses. My middle child has dealt with hypotonia (low muscle tone) since birth. We have been to see quite a few specialists, have occupational AND physical therapy, and no one can seem to figure out why his energy levels are so low. He has been through blood test after blood test, genetic testing, MRI, CT Scan, and quite a few physical tests. He is now 3 (will be 4 in November).
    We have become so frustrated with the lack of information regarding his treatment that we have considered moving near to your area as Boston Children's Hospital is regarded as the #1 children's hospital in the US (according to five or so lists I looked up), with high marks in pediatric neurology, which is the department I believe we need to see.
    Our usual nurse at Seattle Children's did finally send us to a neurologist who thinks he may have an idea as to what my boy has. We are currently fighting with the insurance company for approval to get this testing (EMG). If it is this condition (a rare form of congenital myasthenia gravis), this doctor has only seen it twice in his 30 years of practice. And both children were siblings.
    So, while we are in slightly different boats, I can absolutely sympathize with your situation.

    1. Thank you for your message and positive thoughts. When you have a moment, take a look at They are taking an innovative approach to diagnosing rare diseases. A friend also suggested as a resource that is available for families looking for a diagnosis and support for rare diseases.

      We wish you the best of luck in tracking down a diagnosis for your son.

    2. Thank you! I have bookmarked both of them and have been browsing the Lili Claire site.

  2. Your daughter is beautiful. I wish you the best of luck in finding others who share her mutation. My older son has juvenile Batten disease. I invite you to join our Batten community as a source of support. We are on facebook as well as have a website

    1. Corrina,

      Thank you. I really appreciate your message.

      I have spoken with Margie, Tracy and Becky of BDSRA. They (and others) have provided our family with invaluable advice and support. We will continue to look to the Batten community for support, and to also provide support, as we all navigate this path.

  3. Hi Beau, We placed your link on our Facebook site:
    I hope you get any response.
    Our website is
    all the best,
    Henk van Lambalgen secretary ADCA vereniging Nederland (Dutch ADCA Union)

  4. Thank you. We really appreciate your help.

  5. You're not alone, our daughter has a variant late infantile NCL --- CLN8 - in 2010 she was found to have cerebellar atrophy on her MRI after normal MRIs - in 2013 she was found to have whole brain atrophy - we were tested for all the SCAs and ataxic diseases --- The Batten community has been very supportive and kind. You're not alone - my mother was ataxic and died young, my brother and two of his children are also now ataxic and disabled. All have some atrophy in the brain and spine. You're not alone. If you ever want to talk please email me at or Chad Christy Bac on facebook. Hugs

  6. James, please look at:
    I think you could be interested.

    1. Thank you. We are investigating how to make the trip.