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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 rare disease world is filled with many high-highs and low-lows with some days being much better than others. I cling to the happy days when Maxwell learns a new skill, scientists reach a milestone achievement or something wonderfully unexpected happens.
Today is one of those happy days… a day of sheer celebration we will never forget. This day also happened to fall on my birthday.
About 10 months ago, we humbly stepped forward and exposed my family’s most private heartache in the belief we could, collectively, change Maxwell’s and many more children’s course of life. We set a $1,000,000 fundraising goal to get gene replacement therapy off the ground at the University of Texas Southwestern. The $1,000,000 goal covers the cost to develop the treatment and test the treatment in mice for efficacy and toxicity.
I am happy to tell all of our supporters, tireless volunteers and loving individuals that we have cleared this initial funding hurdle!
There have been many days when we felt this fundraising milestone would not happen and so writing this blog entry has been a dream I hoped would come true. The day has arrived and the Freed household is celebrating with joy!
None of this would be possible without the unimaginable outpouring of support we have received from each and every one of you. Through our tears and fears, Mark and I have seen the best side of humanity. Over thousands of calls to scientists, 40+ different events and fundraisers, countless visits to various academic and corporate labs trying to find solutions, and, equally as important your seemingly limitless compassion, empathy and prayers. We truly don’t have the words to express our gratitude for all of the love we have felt during our fight. It empowers us during our darkest moments.
The journey that initially began as a quest to help Maxwell has transcended my little family. We were told Maxwell was 1 of 34 patients in the world when he was diagnosed and that is not true. In actuality, SLC6A1 is a newly discovered disease and intuitively, you can’t be diagnosed with a disease that does not exist. As a result of the awareness and research our non-profit has generated, we now know that SLC6A1 is the 10th cause of autism, 6th cause of epilepsy and plays a major role in many psychiatric conditions. Newly diagnosed patient families are finding me at a rate of 5 families per week. Each family is scared, grieving, confused and in dire need of help. They feel exactly like we felt on diagnosis day. I have spent countless hours crying with parents, trying to stay realistic while instilling optimism, and trying to explain a disease their doctor had never treated. The new diagnoses are in varying stages of the disease and all need treatment yesterday. I feel the profound responsibility of helping each and every child afflicted.
We are raising our “all-in” fundraising goal to $4,000,000 to help more children as quickly as possible.
The goal will also provide a budget to pursue other novel treatment approaches. There is so much more that can be done and this is just the beginning. I won’t rest until this disease ceases to exist.
I also have more exciting news. An incredibly generous donor is willing to match the next $50,000 we raise to advance the treatment. We have one month to raise $50,000 which will generate $100,000 for the next leg of this journey.
We still need your help to keep momentum going…every like, every share, every tag helps more than you know! Every dollar donated will give a family another healthy, happy day with their baby.
Today, we celebrate this milestone for Maxwell and our entire community. A year ago, I never could have dreamed we would have come this far!
Tomorrow, the hard work continues. Thank you, again.
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 5th 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 10th cause of autism, 6th 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!
FOR IMMEDIATE RELEASE
Contact: Amber Freed, SLC6A1 Connect
SLC6A1 Connect Founder and CEO Receives RARE Champion of Hope Award Nomination
The Global Genes RARE Champion of Hope Awards honor and recognize true champions for rare disease.
DENVER, CO, May 2018 – SLC6A1 Connect is proud to announce that our founder and CEO, Amber Freed, has been nominated for the Global Genes RARE Champion of Hope award, which recognizes individuals, organizations or collaborations that have made an impact in rare disease advocacy, medical care and treatment, or science and technology.
Awardees will be honored at the RARE Champion of Hope Celebration on Friday, September 20, 2019, at the Sheraton San Diego Hotel & Marina as part of the RARE Patient Advocacy Summit.
Amber is so proud and honored to have received this nomination, which illustrates that the 70-hour work weeks, frequent travel, and copious tears dedicated to the foundation and advocating for SLC6A1 have not gone unnoticed. She will continue to “fight like a mother,” both for her son and for all children affected by SLC6A1.
Web Link: RARE Champion of Hope Awards
If you would like more information about this topic, please contact Amber Freed at 303-907-8038, or e-mail firstname.lastname@example.org
The link to the article didn’t go well for some folks…click here:
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.
I spent my career in equity analysis and made some very dear friends along the way, most recently at Janus Henderson Investors. When doctors began warning us that Maxwell was not well, I left my career in a frazzled, frantic state. I tried to be strong the day I resigned from Janus, but I simply couldn’t hold it together. I burst into tears in front of my team leader and HR representative, barely able to form the necessary words. I was finally able to communicate that my son has a medical emergency and that I needed to leave immediately. Everyone was empathetic, concerned and wanted to help. I tried to complete a final walk through to say formal goodbyes, but I was too upset to say all that I wanted to say. I sent an informal goodbye to the group e-mail list and slowly reached back out as regained my composure.
Lisa Neison and Rich Carney are two dear friends from Janus Henderson, and some of the most authentic people I know.
They were among the first friends to learn I was having twins, and Lisa even held a baby shower for me at Janus! After the twins were born, Lisa and Rich always asked for updates and wanted to see pictures, and Lisa spent many work lunches helping us with feeding time. When Maxwell was diagnosed, Lisa and Rich were both huge sources of support, understanding and grieving beside me, but also cheering me on as I chased scientists all over the world.
They told me to be fearless and relentless, and I listened wholeheartedly and made sure to keep them updated.
Janus Henderson holds an annual charity challenge, for a $75,000 grand prize, in a Shark Tank format where you have 10 minutes to pitch your chosen charity. Lisa and Rich championed SLC6A1 Connect and we put together an all-star pitch. One of Maxwell’s many guardian angels, Dr. Larson from Children’s Hospital of Colorado, even came to speak! Dr. Larson diagnosed Maxwell and has been a huge advocate for him and the rare disease community. We practiced many times together and I privately practiced on my mostly indifferent cat at least 100 times. When the day of the pitch finally arrived, I was both nervous and excited. Many of my former Janus colleagues came to cheer me on, and seeing their familiar faces in the audience was comforting. The 10 minutes went by in such a flash, I barely remember the actual pitch. The “twinado” made their grand appearance for the final minute and stole everyone’s hearts. Maxwell was dressed as smart as Prince George (but looked even cuter!), and Riley was a fashion princess in her sunflower sundress. Needless to say, their appearance helped to seal the deal. But then the wait began…
The competition was held among multiple international Janus Henderson locations, and due to the time difference, the winner wasn’t announced until the following day. I couldn’t attend the presentation as I was on a flight to attend a conference at the National Institute of Health, but I compulsively checked my phone for updates during the long flight. Then, as we were about to land, I accepted a Facetime from Lisa and Rich who were calling to tell me we won the charity challenge!
I was screaming and ugly crying as we landed, and in retrospect I was probably lucky an air marshal didn’t apprehend me for making a scene.
The $80,000 prize gets us to a total of $500,000 toward our goal of $1,000,000. We’re halfway there! We are halfway to our first goal of developing a gene therapy to help every child affected with SLC6A1.
Thank you to Lisa, Rich and Janus Henderson Investors for believing in SLC6A1 Connect.