Some Patients’ Best Hope for a Cure Is to Develop It Themselves

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.

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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. 

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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.

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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.

 

Most People are Good

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.

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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.

Brad

 

Today was a Good Day

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:)

Father of the Year

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.

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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!

Press Release

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FOR IMMEDIATE RELEASE

Contact: Amber Freed, SLC6A1 Connect
Phone: 303-907-8038
Email: afreed@slc6a1connect.org

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

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If you would like more information about this topic, please contact Amber Freed at 303-907-8038, or e-mail afreed@slc6a1connect.org

The HuffPost

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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.

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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.

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

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

Huffington Post Article

Janus Charity Challenge

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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.

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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.

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2019 Global Gene Rare Champion of Hope

Each year, Global Genes, a leading global rare disease patient advocacy organization, asks the community to nominate those deserving of recognition for their extraordinary efforts in rare disease.  Nominations are accepted in the areas of advocacy, medical care and treatment, and science and technology.

I was nominated this year to receive the reward!

I am so proud and honored.  I am often asked what drives the 70 hour weeks, travel and tears.  The answer is Maxwell’s little face and all of the other children affected by this horrible neurological disease.  I live the other the family’s sad stories and hear the hopelessness in their voice – like a child requiring plastic surgery from breaking their nose seizing.  These kids did nothing to deserve their suffering.  Nobody can advocate better than a mother for her child and I will not stop until a cure is found.

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Mother’s Day

“God could not be everywhere, and therefore he made mothers.”

-Rudyard Kipling

 

When I woke up this morning, I couldn’t help reflecting on the past few years.  Mark and I wanted children so badly that we suffered through 2 years of IVF, but nothing could have prepared me for the overwhelming joy I felt when Maxwell and Riley were placed in my arms. My heart nearly exploded with love for these perfect little babies. Everything I thought mattered prior to their arrival instantly became an afterthought. Their health, happiness and well-being became my top priority.

The past two years have been full of high-highs and low-lows.  The despair and sadness of dealing with a rare neurological disease are offset by the celebration of every little milestone and not taking a moment for granted.  Twin hugs and open-mouth kisses brighten every day, and drool-covered shirts and banana-smeared jeans have become my favorite fashion statement.

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I never could have imagined the path my life would take when Maxwell was given a diagnosis of SLC6A1 and no hope for a treatment. Now, in less than a year, we are well on the road to a cure for his rare neurological disease, and I have found a great fulfillment in advocating for Maxwell and other affected children. This fight and what we’re achieving has made every sleepless night worth it.

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As mothers, we all put our children’s needs ahead of our own.  We are stretched to our limits on a daily basis, but we are also fierce and full of love.  I am so thankful on this day to have been blessed with little knuckleheads like Maxwell & Riley.  I thank God every day for blessing me with these beautiful children.

Happy Mother’s Day!