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.

 

A Big Win For Maxwell

This week marked a major milestone in our fight against SLC6A1. Our dedicated team of scientists produced the gene therapy treatment and are actively treating mice. If all goes as hoped, the mice will show improvement and this data will go before the Federal Drug Administration to approve the therapy for human use.

I have been so nervous that this day would be delayed, that I wouldn’t allow myself to get excited. I was at Children’s Hospital with Maxwell’s developmental pediatrician when I received the e-mail, and when I told her, she burst into happy tears. Another physician came in to celebrate with us, and in that moment the gravity of the day hit me.

I burst into tears, too.

We have been laser focused in our march forward to create this treatment, and we haven’t stopped to breathe, let alone reflect. Today’s happy news was a welcome moment of validation, and a reminder that the hard work, endless fundraising, sleepless nights, and agonizing uncertainty aren’t for nothing.

Everything is coming together… this is happening!

Thank you all for fighting along with us and giving Maxwell so much love. We have a huge army of loving supporters, and we need every one of you!

We told Maxwell the big news tonight and you can see his reaction for yourself:)

My husband, Mark Freed, is the unsung hero of our little family.

He is a symbol of strength and unconditional love, not just for me and our children, but to everyone around him. On my worst days, he is the calm “voice of reason,” and on my best days, he’s the first to celebrate. Maxwell and Riley’s faces light up with pure joy when he walks through the door at night. Riley immediately asks him to “wrestle” because she wants to be thrown in the air and have her belly tickled.

Mark has made a Friday afternoon tradition of driving her or Maxwell around in the golf cart for an hour while plying them with pretzels and milkshakes, and our friends are always happy to let a golf foursome turn into a golf 4.5-some! Mark has even gotten the twins interested in golf, Penn State football, and watching him smoke meats in the “Green Egg.” Mark loves Maxwell and Riley with his entire soul and is happy to work hard to provide them with a good life, all while demanding very little in return. Toddler smooches and an “I love you, Daddy!” are sufficient for him.

I receive lots of accolades for my accomplishments in driving the treatment forward for Maxwell and other children like him, and many of those accolades come from Mark. In reality, Mark and I are equal partners in this battle for our son–he’s just the quieter half. He’s the person I rely upon emotionally, who kisses the twins’ boo-boos while juggling work, parenthood, and SLC6A1 Connect. I don’t know how he does it! So today, we celebrate our wonderful hero, husband and father, Mark Freed!

 We love you, Marky!

The link to the article didn’t go well for some folks…click here:

Huffington Post Article

 

The Huffington Post recently devoted time with my family to fully understand our daily struggles as we battle a rare disease to save Maxwell. 

The journalist and photographer deeply cared about Maxwell and felt our sense of urgency as we frantically race to develop a gene replacement therapy for Maxwell before it is too late. 

They witnessed the exhaustion and tears of leading scientists while trying to raise upwards of $1,000,000. 

Our email communication included many 2am time stamps and phone calls where I was slurring my words from an all-nighter.  Not to mention doing all of this while caring for two-year old twins that need a semblance of a normal childhood.  I cannot allow “this” to detract from their beautiful lives.  I try to make Maxwell’s 12+ thera\py sessions a week enjoyable even though it’s physically and mentally straining.  And then there is Riley, Maxwell’s sassy pants twin sister who deserves time focused on her specific needs.  She cannot fall into the forgotten child category.

This is not easy and I wouldn’t wish it upon anyone.  In fact, I am working day and night to ensure there is not another Freed family.

Thank you to the HuffPost for your beautiful coverage of our little family in a big fight to change to this world.

On a funny note, The Huffpost published this picture of me taking a rest.  Please read our story below.

Huffington Post Article