It was definitely an amazing week. Throughout it all (i.e., the approval, the interviews and the messages of relief), the most touching moment was when two of Maya's classmates approached us Monday morning and presented two sandwich bags full of cash and coins. They had raised money selling their artwork and wanted to donate the proceeds to the research project at Texas Children's Hospital. It was their wish to help Maya and young people like her fighting batten disease. It was a selfless and touching gesture representative of Maya's school and community. Thank you #SDCCS and all of you who make weeks like this one so special.
#FightingForMaya
Below are links to the latest news about the approval and interviews from our local station.
When Maya was born, she had what we believe was an unrelated condition called gastroschisis, that required her to have surgery immediately after birth and spend five weeks in the NICU. She was diagnosed during the 19th week of pregnancy and Suzette and I braced for her challenging, yet not impossible arrival.
I remember that her birth day was hectic. We had what we thought was a routine check-up with the obstetrician in the morning, however, we were told that Maya was entering into distress and would need to be delivered later that day. Because of her unrelated condition, Maya was delivered by c-section and was immediately whisked away to be evaluated by the pediatricians before her surgery. This part wasn't a surprise as Suzette and I had planned that I would accompany Maya to the surgery while Suzette went to post-op recovery.
As the doctors and nurses wheeled Maya to surgery, I realized that despite all of my planning, I hadn't planned for the reality that because of the c-section and need for immediate surgery, Maya had been born and Suzette hadn't seen her (Suzette heard her cry, but had not seen her). A wave of panic hit me and I begged the doctors and nurses to not take Maya to surgery until I had returned with Suzette. I then took off running down the halls of the hospital, trying to find Suzette's room and someone to help me get her to Maya.
After much begging, I convinced a young intern to get Suzette out of bed, into a wheelchair and back to Maya. Luckily we found Maya, in an incubator and headed to the operating room. Her surgeon, greeted us with a hearty smile and quickly agreed to give Suzette a few moments with Maya. As I stood by the surgeon, and retold my tale of running around the hospital like a madman, he cracked a huge smile. He then shared a bit of wisdom, and said, "There is nothing like the bond between a father and his daughter."
Little did I know.
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At some point, many of us parents in the rare disease community swear a little oath. You have that moment, perhaps after your child has regressed a little too far or perhaps when you question why your family has been tasked to bear such a burden. You silently swear to yourself, that no matter what happens to your child, that you will find some way to make it easier for those families that follow in your footsteps. In some ways, I think that I made the oath, because no matter what happens (good or bad), I don't want any of this to be in vain.
Last month, after we returned to our hotel room in Columbus, recovering from the 48hrs in the hospital for Maya's first infusion, Suzette, Maya and I sprawled out on couches, beds and chairs. We all just needed a couple of hours to recover. I was staring at my phone, catching up on email and I came across a message titled "SCAR7 Diagnosis". It was a note from a mom who had a 14 year old son who was diagnosed with SCAR7. His geneticist had found our blog and passed along a printout and links.
I immediately gave the mom a call and during a thirty minute conversation, shared two and a half years worth of knowledge and understanding. I then followed up with articles and introductions to Maya's doctors.
This young boy, represents our 21st person who is similar to Maya. However, he is the first (and hopefully not the last) to have found us due to our #FightingForMaya work.
-The FightingForMaya blog has been viewed over 18,000 times;
-We are six thousand dollars shy of hitting our year end goal of raising $100,000 of the $200,000 for the SCAR7 research project at Texas Children's Hospital.
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Our year end ask, is that you consider making a donation to the SCAR7 research project at Texas Children's. Be this your first, second or tenth, we ask that you make another donation to help push us over the half way mark. This research project is so important in developing a targeted treatment for SCAR7 and expanding the understanding of this disorder. We are close!!!
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Finally, I want you to know that Maya is doing well. We are very fortunate to have her in the program at Nationwide Children's Hospital, Columbus and we make the trip every two weeks for her infusions. Based on the published data, we can reasonably expect the progression to be slowed or stopped. We hope and pray that over time, Maya will see some improvement.
As I have written many times, Maya (and our family have been showered with love and support). From tiny to mighty gestures, we have been so very fortunate.
In closing, we want to share a beautiful message that Maya received earlier this year (see below video). It is one of many heartfelt messages (and we may share more), but we thought that we would share this one at this time. Thank you, Steve and Chris.
Thank you for reading and for your continued love and support,
It is so hard to explain how much I suffer before writing a blog post. Sometimes an idea rattles around for months. Always surfacing and then retreating back into my overly critical mind.
One such post is about the others who we hope to help with this research project. Yes, it is called #FightingForMaya and yes (to Maya’s chagrin) her picture and name are everywhere, but there are too many others who will hopefully benefit from this project.
There is Jacoby, David, Abigail, Kristiina, Hannah, those three Italian Siblings who we read about, but never heard from and the two kids in Europe who’s case study was presented at a conference, but they decided to remain anonymous. Each is similar to Maya in that their presentation of this disorder is Atypical (but also individually very different). I also found each after my initial blog post in 2014.
There are also the kids with the Classic form of CLN2. Too many kids and their families fighting for every inch.
Who are the people that I name above? I know a few through Facebook. I regularly read about their struggles. Usually, their moms post about… struggling… fighting and loving their children.
I see their pictures, sitting, leaning on someone for support, but always smiling. I’ve never heard their voices, but I know they sound slurred. I know that eating can be hard and walking is questionable. I know that the disease is progressing, slowly, but progressing.
I know only because I see it in Maya.
Jacoby is 14 and yes his smile is worth a million bucks. Earlier this year he went to Prom. I never had to ask why it was important, because the pictures say it all. I see Jacoby and I see my own boys and as simple as it sounds, I want Jacoby to get better.
There is also David.
David is the oldest person (outside of the literature) that I know of with the Atypical form of this disorder. David and his mom, Michele, hold a special place in my heart, because they were the first Atypical family that I found.
It was 2015, and David’s mom posted on the Batten Disease Support Group Facebook page a happy birthday wish to her son “Who was turning 29 and had CLN2.” Anyone familiar with batten disease knows that those with CLN2 rarely see a birthday beyond 12. That is, unless they are Atypical.
After a ton of messaging, Michele (who is in Australia) and I spoke via Messenger. With tears streaming (yes, streaming), I listened as Michele told me that she never thought that she would find someone else like David. We compared symptoms (i.e., how our kids were similar, but different from each other and the classic form). We spoke about the importance of exercise and keeping our kids motivated. We spoke about how a name or diagnosis doesn't really matter.
If Bill Gates, Warren Buffet, Mark Zuckerberg or some other mega wealthy person were to task me to solve this disorder, I would go study David.
In the end, this is a $200,000 project, that not only studies the Atypical, but the typical forms of CLN2. It is a project that is shining a light into the critical world of the Lysosome and the 50 plus diseases associated with that critical little organelle (e.g., Parkinson's and Alzheimers).
Most important this project will hopefully deliver a treatment for Jacoby, David, Maya, Abigail, Kristiina, Hannah, those three Italian Siblings, the two kids in Europe, those with Classic CLN2 and those who are yet to be diagnosed.
That is the purpose of this project, and that is who we are #FightingFor….
"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:
ATYPICAL TPP1 DEFICIENCY or SCAR 7
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.
