Living with a Rare Disease is like Walking a Tightrope over the Grand Canyon.  Your gaze must stay focused forward on achieving treatment.  You can never look backward or down because you will stumble and fall.

In 2019, we stepped out in the midst of our most private heartache to make our story very public.  It was the only way to bring awareness, scientific talent and funding to a disease that didn’t have a name.

We have made lightning progress over the past year. 

We have advanced a gene replacement therapy along with the University of Texas Southwestern.  I nearly even smuggled mice from China to advance our therapeutic efforts faster.  On December 5^th, we hosted a 100 scientist symposium to bring forth collaboration and discuss advancing treatment efforts.

We closed 2019 with a larger tribe.

We now have more families mobilized in our fight against SLC6A1.  The Bassi family held a gala in Canada for their son Chase, the Weinstein family has hope after a lifetime of having no answers for Michael, and California has rallied around a little beauty named Rowen.

Belgium is hosting a texting campaign to raise funds for a boy named Axl to have a chance at life.  Axl is the only known patient in all of Belgium and his seizures are increasing in frequency and severity by the day.  Axl understands that a treatment is around the corner and his mother Leyla has given up sleeping to fundraise.  They were just featured on the Belgium Evening News.

A boy named Charlie was diagnosed shortly before his 2^nd birthday and his family has come out swinging.  Take a look at their Christmas lights!   Kansas City is united to help this loving family.

All of these accomplishments are commendable but SLC6A1 kids are still very sick and suffering.

Time is of the essence for every innocent child that needs our help.  We are still planning to begin a Phase One Clinical Trial for gene replacement therapy in 2020.  The $1,000,000 raised thus far has covered development and pre-clinical testing.  We still must raise another $3,000,000 to cover toxicology, the costs of drug manufacturing and the administration of the clinical trial.

Without all of the people reading this blog, we would not be where we are today.

Mark and I had no idea what to expect when we made a video with a plea for help.  Then the angels came.  Our GoFundMe has been shared 9,500 times on Facebook and we have 2,100 donors.  Each share on Facebook has equated to $37.50 of funds raised – the power of social media is astonishing.  I have received thousands of messages of encouragement.  Parents of affected children as far as Romania have reached out after reading about us.  The Huff Post, Buzz Feed and Daily Blast Live have followed our story with compassion.

This world is actually a very good place filled with very loving people.

Thank you.  Thank you to every single person that has lifted our family.  You have and continue to make a big difference in not only the life of Maxwell, but every child with SLC6A1.

Gene replacement therapy is not a question of IF but a WHEN and our dear friends have walked this journey with us.  2020 is the year of the cure for SLC6A1 for Charlie, Michael, Chase, Rowen, Axl, Maxwell and every other child with this rare disease.

Maxwell and Riley knew that Santa Clause was coming to town on Christmas Eve and were so excited!

Well, they were * kind of * excited.  They did not enjoy meeting Santa at the mall  as you can see.  Riley said she would run away if she ever saw Santa again.  Cherry Creek mall paused as the tribal screaming began when Santa held them.  Even after the traumatic encounter, the twins were interested in going to Christmas Eve church services and receiving toys.

The twins dressed up in their most beautiful clothes for Service at Denver United Church.  Denver United has an unbelievable service named Wonder and there is even a petting zoo!

Maxwell has been under the weather which exacerbates his movement disorder.  He took a face plant into the concrete so our plans were cut short but he is always an amazing sport.  He cried a little, dusted himself off and helped arrange cookies for Santa – even though he nearly bit through his bottom entire lip.

During one of our fundraisers, we met the Doane Family and they wanted to help.  They decided to donate an heirloom quality, handmade dollhouse.  The dollhouse is meticulous crafted made with a thatched roof, antique wooden chairs and  porcelain bathtub with no detail overlooked.

This dollhouse is every little girl’s dream come true.

The house is such a masterpiece that I’m not sure anything remotely similar could be purchased in a store.  This house is one of kind.

 

I auctioned off the house on a charity website where it sold for an astonishing $6,500 to a grandparent of twins.  The check arrived along with the following note:

“The siblings of children with complex needs often appreciate an extra gift and recognition.  Riley’s love for Maxwell is heartwarming and I love watching them over Instagram.  Please allow this house to be under the Christmas tree for Riley and tell her she is an amazing sister.” 

Riley ran down stairs on Christmas morning and pointed at the house in wonder.  We told her it was all hers.  She sat in total silence and stared at the house for 10 minutes.  Slowly, her little fingers delicately started exploring the furnishings.   She rearranged some bedrooms and tucked her doll into the cotton sheets.  She loved see her doll’s reflection in the armour mirror and opening the little dresser drawers.  Her fingers traced the outline of each room.  She even asked if she could sleep in the house last night, but unfortunately, the house is not that big.  Riley will never forget this Christmas and I’m sure she will give this heirloom to her daughter on day.

This beautiful house represents an even more beautiful act of kindness.  We are so thankful for our supporters and beautiful family.

Merry Christmas!

 

I will literally do anything to help Maxwell even if it requires smuggling mice internationally.

Before I even dive into this blog post, BuzzFeed has done an incredible job telling my story – from developing a gene therapy to creating mutant mice in China – to help cure SLC6A1.  If anyone would like to help, please share my GoFundMe on social media (FB, Twitter, LinkedIn) – every share raises awareness and helps to fundraise the massive amount required to advance a clinical trial ($4,000,000 – $7,000,000).   The bottom line is the more money we raise, the faster we can go and the more kids we can treat.

The link can be found here:  https://www.gofundme.com/f/slc6a1-connect.

Maxwell was diagnosed with a rare neurological disease known as SLC6A1 last summer.  I spent my career in equity analysis and I knew nothing about science.  My last scientific experiment involved sea monkeys in the 4^th grade.  Although mice with SLC6A1 existed, scientists told me early on that I needed a greater variety of genetically engineered mice to test the treatment.  What does this mean in non-scientist speak?

We needed more mice that were representative of patients with the disease.  A mouse can cost up to $50,000 in the United States and quite simply, we did not have the money to invest in a mouse.  We had just received the news that we needed to raise $4,000,000 – $7,000,000 to advance a gene replacement therapy.  Buying a rodent that equated to the cost of Range Rover was not realistic.

I contacted some brilliant scientists in China interested in SLC6A1 and explained my situation.  A very compassionate scientist agreed to make Maxwell’s mouse totally free of charge.  The process of making a mouse can be convoluted and time consuming.  A human mutation is implanted into the mouse DNA using a technique called CRISPR. These mice can then be used as pre-clinical models for developing and validating novel therapies.  It also dramatically reduces the burden on pediatric patients to undergo invasive medical testing.  These mice save innocent lives.

The mouse was finished in September and the Chinese team informed me of the good news. Even better, the mouse closely mirrored Maxwell’s symptoms (sometimes it doesn’t happen).

But there was one giant problem, the mouse lived in Shanghai and we needed to get it to the United States.

There was a lot of red tape surrounding the transfer process.  I am an impatient person by nature, but have virtually no patience when it comes to slowing down the process to help Maxwell.

After some deliberation, I decided to get the mouse in China myself.  After all, the TSA has never caught my hair spray.  This is my son and the risk/reward is well worth it in my opinion.

Luckily, I didn’t have to go to China.  Scientists from Vanderbilt stepped into save the day.  Vanderbilt boasts the top animal facilities in the nation and was able to coordinate a quick transfer of the mouse. The airfare was $3,000 so let’s hope it received an extra-large cheese platter, warm towel and suitable movie options. 

The mice flew via China Eastern Airlines directly from Shanghai to New York City.  My household nervously tracked the flight all day.  The flight was delayed by an hour and I refreshed my phone at least 100 times.    Mark and I opened champagne when the flight safely landed.  After a short stay in quarantine, the mouse will begin breeding and advance our research efforts as we battle to cure SLC6A1 forever.

It is astounding to think of the ways the world has come together to help cure SLC6A1. I could thank the group of Chinese scientists every day for the rest of my life and it would still not be an adequate display of my appreciation. 

I have said this many times, but I have seen the best of humanity every day as a result of Maxwell’s diagnosis.

Ladies & Gentlemen, I present to you to Maxwell’s mouse.

A Generous Donor is Matching Every Dollar Raised for October & November!

We have the most loyal friends that want to see Maxwell & every other affected child cured of SLC6A1.  A generous donor is matching up to $50,000 raised during the months of October and November.

In the great words of Bonjovi, We are Halfway There!

Thank you so much to every person that has contributed, shared and made this matching campaign a huge success!

Maxwell & Riley had a fun Halloween.  Riley was salmon sushi and Maxwell was Kikkoman soy sauce.  Everyone loved their costumes!  Riley tried chocolate for the first time and kept asking for more.  In fact, she is asking for chocolate days later.

We went to our dear friend’s home for their first trick or treating experience.  Maxwell & Riley were amazed by their fire eating dragon in the front yard!

When the door opened for our 2nd Trick or Treating experience, the door opened and Maxwell walked in.  Apparently Maxwell was ready for a little rest.  I retrieved him and Riley yelled, “A – B – Treat” which is her own little version of Trick or Treat.

An adorable little girl named Mila Makovec lives just a half hour away from us in Boulder, Colorado. Mila has giant brown eyes, loves chocolate ice cream and singing along to Frozen. Mila is the type of little girl you would see in a grocery store and smile watching her select bananas with excitement.  In December 2016, at Children’s Hospital of Colorado, Mila was diagnosed with Battens Disease, a fatal neurodegenerative disorder. Mila’s family’s world was shattered as they scrambled to comprehend the unthinkable: they were going to lose their precious little girl. During that time, I was blissfully 6 months pregnant with twins, baby-mooning with Mark and decorating the nursery.

I naively didn’t know the rare disease world existed and never could have imagined that Mila’s family and my family were destined to collide.In retrospect, I am grateful that I did not know.

 Mila’s mother, Julia Vitarello, went through the same diagnostic odyssey as we did with the same dedicated teams at Children’s Hospital of Colorado. Mila and Maxwell were eventually diagnosed by the same astute geneticist and given a similar message. Our babies were diagnosed with a rare neurological disease, there was no existing treatment and the disease was too rare to illicit research interest. We both sat at Children’s with the same sense of shock and denial which quickly turned into action.

Our mothers’ hearts were broken but we didn’t the luxury to dwell because our babies needed us.  Time was not our side and protective instincts took hold.

Mila was declining before Julia’s eyes by the time she received the official diagnosis. Mila had lost her vision, required a feeding tube, and began having 30+ seizures a day. Her tiny 5 year-old body had regressed to infanthood. Mila’s situation was truly life or death. Julia relentlessly pursued the creation of a miracle for her little girl and she succeeded. By mid-2017, Julia and a world renowned scientist were developing a gene therapy for Mila that would stop the progression of the disease. She raised $3,000,000 in one year to fund research efforts, all while coping with a very ill little girl and an unaffected infant son. In January of 2018, Mila received the gene therapy.

Within a month, Mila was having fewer, less severe seizures and prayers were answered–the drug was working.

Maxwell was just 10 months old when Mila official received treatment while I was frantically searching for answers. Maxwell looked perfectly fine but nobody could understand why he missed every milestone and couldn’t use his hands. Test results slowly trickled in and the doctors suspected Muscular Dystrophy. The hope I clung to that Maxwell would miraculously catch up faded with each passing day. I felt alone, helpless and afraid.  I would wake up hyperventilating out of a dead sleep.

In June 2018, we received Maxwell’s official diagnosis of SLC6A1. I knew nothing about rare diseases and had never heard of Mila. I sprang into action and started grilling the doctors as to what they would do if this were their child. I was inherently aware that I would have to forge my own path and would probably make mistakes, but I had to start sprinting. I asked my doctor if anyone else had been successful and he agreed to introduce me to Julia.

I went home and googled Julia. I began sobbing as I read her story and looked at pictures of Mila.

Their family was just like my family. My emotions were totally raw and I was hesitant to make the call. The last thing this Superwoman had time for was the tears of a frustrated mother, and I didn’t want to worsen her day. But I knew I needed to talk to her. I put in my earbuds and nervously dialed her number. A strong, warm voice answered on the other end–it was my personal hero. Julia explained the scientific process in layman’s terms, prepared me for the millions of dollars I would need to raise and allowed me to cry. She is one of the most authentic and empathetic people you will ever meet, with inner beauty that radiates outward. We became instant friends in a world that few people could ever understand. She has become a much-needed source of strength and has brought me so much hope.

While I wish it hadn’t been rare disease that brought us together, I am proud to call to call her a dear friend.

Before Maxwell was even born, Julia was forging a path forward for every child affected by rare disease–a world that is small by definition but big in terms of importance. The meaning of the cliché “standing on the shoulders of giants” means “discovering truth by building on previous discoveries.”  It would be impossible for me to have made as much progress as I have if Julia had not come before me. It is difficult to conceptualize the massive impact that Julia and Mila have made on this world. Their story is featured in the New York Times this week and I urge everyone to read this journey: NYT. If you don’t have a subscription, here is a link to Stat News Stat News.  The article has expanded across 25 papers spanning 8 countries in just one week.

 It is because of the Julia Vitarellos of this world that Maxwell has hope and children with SLC6A1 have a chance at life.

My hope is that someday I can be another mother’s Julia.  It is Julia’s birthday today…she is such a gift to the world.

The dreaded day we received the news that Maxwell was diagnosed with SLC6A1 was the worst day of my life.  Mark and I sat at Children’s Hospital and listened to a never-ending list of things Maxwell would probably never do.  I wanted to cover my ears and sing so I couldn’t hear the doctor’s words.  The hope that every parent has for their children slowly trickled away.  The dreams I had for Maxwell felt like they were slipping through my fingertips and I was totally helpless.

The most unsettling realization was that if anyone was going to help Maxwell, we had to do it by ourselves entirely.

  

Rare diseases fall into the bucket, “Too Rare to Care” for government and industry funding.

A limited amount of funding for rare diseases like SLC6A1 is available from the National Institute of Health (NIH), which funds a large share of the basic biomedical research in the United States. What funding is available is divided among 7,000 or so rare diseases — then subdivided among a disease’s subtypes. That ever-smaller pot leaves families like us with the task of raising awareness, advocating research, and funding potential therapies ourselves.  Our scientist, Steven Gray, PhD, has said, “In these cases, advocacy almost plays a stronger role than the science does.” The statistics are staggering.  Around 50% of rare diseases affect children and 30% of children diagnosed with a rare disease will not live to see their 5^th birthday. 

Bloomberg recently featured Maxwell’s story in an article, “Some Patients’ Best Hope for a Cure is to Develop it Themselves.”  In our situation, the only choice I was given was to spend countless hours becoming an expert in SLC6A1 and to spearhead the treatment myself.  Maxwell doesn’t have time to wait for traditional science to develop a treatment on its own.  We were left to bypass the pharmaceutical industry entirely and fund the research ourselves.  Gene therapy is the hope for children with SLC6A1 and I am fully focused on progressing a Phase 1 clinical trial as quickly as possible.

I would never use “luck” and “rare disease” in the same sentence, however, SLC6A1 does have a silver lining.  Our prevalence is much greater than originally thought.  The disease is newly discovered and intuitively, you can’t be diagnosed with a disease that does not exist.  SLC6A1 was added onto genetic testing panels around the time of Maxwell and Riley’s birth.  Prior to that time, there was not a way to be diagnosed with the disease.  With all of the light SLC6A1 Connect has shed on the disease, we now know that SLC6A1 is not as rare as we thought.  The disease is the 10^th cause of autism, 6^th cause of  epilepsy and plays a major role in many psychiatric disorders.

One thing is for certain. God has a plan for Maxwell and he was put on this Earth for a reason.  In his short two years of life, he has already profoundly impacted many lives and will impact so many more.  I am so blessed to be this little joy’s mother.  Maxwell and Riley put life into perspective for Mark and I in the absolute best of ways, and I am determined that we will achieve our goal, not only to improve Maxwell’s life, but the lives of all other children with SLC6A1.

The Bloomberg article can be found Here.

 

This has been a sad week for our nation, so now is the perfect time to focus on the beauty that can still be found in this world.

In my household, we are obsessed with Luke Bryan’s music, and one of my favorite songs is called, “I believe most People are Good.”  My blog today is highlighting all the wonderful people who have rushed to our side in our journey to help Maxwell and other kids with SLC6A1. We have seen the best side of humanity, and I want to express my gratitude.

My little family was struck by tragedy the day we received Maxwell’s diagnosis.  All of our long-term plans and dreams were derailed at that moment.  Our family’s future became uncertain as I left my career to ensure Maxwell’s future could become more certain.  I had no idea what I was going to do, or how I was going to do it, but I was going to try with every ounce of my soul.  We put aside fear, pride and our privacy to make our journey public, to create awareness, fundraise and ultimately advance the treatment for Maxwell’s neurological disease and help many others.  We had no idea how we would be perceived and it was not easy for us, but we had to do it.  We were totally unprepared for the outpouring of love and support that has surrounded and empowered us every step of the way.

Friends I haven’t seen in 10 years have made donations to Milestones for Maxwell. A high school friend named Diana has collected thousands of pairs of shoes which will be sold to benefit the foundation. Investors at Janus Henderson, my former colleagues, have become Maxwell’s cheerleading squad, making key introductions and mobilizing their brainpower rich office to help my family. Other former business associates have donated rounds of golf and rallied the industry behind us. My friend Lisa has never missed an event, Kris ran a marathon for Maxwell, and Brinton–another former colleague and fellow twin parent–is running 100 miles in September to benefit Milestones for Maxwell.

My friend Bonnie’s little girl, Evelyn, asked for donations for Maxwell in lieu of gifts for her 6th birthday, and also made him a beautiful card. A friend that works in public relations has worked tirelessly, and with a mother’s love, to facilitate media coverage on our behalf, which has been key for fundraising and getting our story in front of as many eyes as possible. My friend Sarah hosted a large charity hour to benefit Maxwell, and Mark’s golfing body organized one of a kind photography prints to be sold to help us.

Enstroms Candy is donating all of their tips for the summer to help Maxwell. Ink! Coffee has created Maxwell’s Miracle Blend on our behalf. My church, Denver United, has engulfed us with love. Brad Livengood is a talented photographer that ensured we have perfect photos to send to the media. Lynsi Greer helped create a video that flawlessly captures the essence of our story and our journey (which I can’t wait to share.)

Even Bachelor Alumni made Maxwell a video!

Complete strangers are planning events, friends and strangers alike are hosting birthday fundraisers on facebook, and I’m often up late into the night returning e-mails from people who want to help. I’ve even made new friends along the way, such as Irene who has been instrumental in a number of ways, not the least of which is her hysterically funny personality that keeps my spirits high. Another lovely woman, Sarah, read about our story and reached out, and now she will be hosting a trivia night to fundraise for Maxwell on August 28th (buy tickets Here).

I could keep this list going for days and days. We have an army of supporters to carry us through this season of life, and the amount of love we have received will make us smile for the rest of our lives. It’s only appropriate to end this blog with Luke Bryan’s words:

I believe this world ain’t half as bad as it looks
I believe most people are good.