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Happy Birthday Maxwell & Riley

SLC6A1 Gene

The Twins Turn Two on the 27th! 

We celebrated with a special celebration with all of their friends at Great Play in Cherry Creek over the weekend.  Maxwell and Riley were dressed as cowboys with matching vests, boots and sparkly hats.

Maxwell was a little sick of the pictures.

 

Last year, I spent months planning every detail of the twin’s first birthday.  I was so excited that the party got a little out of control!  We had over 100 guests, a face painter, balloon artist and a dessert bar with 15 different desserts.  The dessert bar was so successful that we had a subsequent ant infestation.

One of my favorite moments of any 1st birthday is a smash cake.  For Maxwell, the smash cake represented all of my fear, anxiety and heartache.

Last Year
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What a Party
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Maxwell could not use his hands.  He had never touched my face or reached for a toy.  I knew he would not indulge in the smash cake and I didn’t want people to notice or ask questions.  Mark and I knew something was very wrong with Maxwell but we had no idea what to even tell people because we didn’t have a diagnosis.  I couldn’t physically talk about it without bursting into tears.

As the days led up to the party, we considered cancelling to avoid the situation entire.  We ultimately decided that Maxwell and Riley’s 1st birthday was a celebration of their beautiful lives and the immense joy they bring us daily.  We refused to let fear overshadow a special day for these little babies.

Today is bittersweet.  I reflect on the past year and truthfully, it has been very hard and mostly a blur.  We heard the term SLC6A1 for the first time, followed scientists all over the world, organized a scientific symposium, started fundraising and pulled more all-nighters than all of college combined.  On the home front, Maxwell has endured 10 therapy sessions a week – physical, occupation, speech, horse, swim, etc.  Riley has maintained her joyous tenacity for life.  It has been very difficult to balance becoming an honorary molecular biologist, chief fundraiser, running a patient organization and trying to be the best mother in the world.  Our family has more perspective now than I ever could have imagined.  I regularly wonder why my former life, career, relationships, etc; once stressed me out.  We have cut out the noise entirely.

The worst symptoms of SLC6A1 begin between the ages of 3 and 4 years.  We still have a $750,000 funding gap.  We are racing against time to raise money, advance the clinical trial and give Maxwell a shot at life.  Birthdays are a reminder that time continues to march forward.   I would be lying if I said I wasn’t terrified.  

Like last year, we are trying our best not allow fear to overshadow the twin’s special day.  SLC6A1 may not steal any birthday joy.  I am so proud to be their mommy and honored that God entrusted them to us.  There is nothing better in life than Maxwell & Riley.

Happy birthday little babies!

60 Minutes Episode on Gene Therapy

SLC6A1 Gene

60 Minutes aired a story about gene replacement therapy CURING sickle cell anemia.   The story highlighted a woman experiencing pain as “very sharp, like stabbing, almost feels like bone-crushing pain.” She was barely capable of physical activity, spent weeks a year hospitalized and didn’t know if she would live into her 30’s.  Just 9 months after gene therapy, this woman can now swim, run and participate in jiu jitsu class.   60 Minutes showed footage of her joyfully being slammed to the ground in jiu jitsu – something that could have nearly killed her.

“I believe that this looks like a cure,” says Dr. Francis Collins, director of the National Institutes of Health. “I got to be careful. But from every angle that I know how to size this up, this looks like a cure.”

Gene therapy is in clinical trial for thousands of genetic conditions.  My eyes filled with tears watching this woman fully recover and living a life she didn’t know existed.   This is the reality of gene therapy – life for thousands of people afflicted by diseases that were deemed hopeless.

Half of all rare disease diagnoses are children and 30% of those children will not live to see their 5th birthday.

If you want to cry happy tears, google the drug Spinrazza and see children with spinal muscular atrophy walking up stairs after being wheelchair bound.  Death is no longer the only outcome for these diseases.

Dr. Collins sees more reason to hope. “There are 7,000 genetic diseases for which we know the precise DNA misspelling,” he tells LaPook. “Couldn’t this same strategy … set of principles work for lots of those, maybe someday all of them?”

SLC6A1 is one of the diseases that can be cured by gene therapy and are relentlessly forging toward the cure.

Watch the Full Episode Here:  60 Minutes Overtime.

We could not get there without all of YOUR help.

 

Maxwell’s Gala Recap

SLC6A1 Gene

Thrive Mortgage hosted a gala Friday evening to benefit Maxwell and the night was absolutely incredible.  Guests arrived to a #MilestonesForMaxwell red carpet before heading into the beautiful event.

The event was so much fun with so many games!  The silent auction featured artwork from Lindsay Jane Ternes Fine Art and unique sports memorabilia.  The live auction surprised everyone with irresistible trips to Africa, a year supply of gourmet steaks, a fly-fishing trip and golfing excursions.  In total, 6 trips to Africa were sold!

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The Colorado Avalanche players were SO supportive of Maxwell!  Here is J.T. Compher, Ryan Graves & Tyson Jost holding Maxwell’s sign.  Ryan Graves (white shirt) is just shy of 7 feet tall.

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One of Maxwell’s biggest supports has been Leah Block from the Bachelor.  Leah has been a constant source of support and fun ideas.   Leah Block

Laura Leavy from Thrive Mortgage made all of this happen.  Laura selected us to be the recipient of her beautiful event based off of our GoFundMe.  She did this all for a stranger…someone she had never met.  Laura truly is one of Maxwell’s guardian angels.

Thrive

The final numbers are still coming in but I will update GoFundMe with the final proceeds amount!  Thank you to all of our friends & family that came to support Maxwell.

9News Loves Maxwell

SLC6A1 Gene

Kim Christiansen with 9News graciously told our story on the Denver news tonight. Our family anxiously gathered around the TV waiting for our big debut. Kim covered our story with the care and understanding of a fellow mother, and our comfort during the interview is evident in the finished product. You can tell Mark and I felt like we were with family, chatting about our sweet Maxwell and Riley like it was any other day.

Click Here:  9 News Story

Thank you so much Kim and 9News!

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Charity Gala – March 8th, 2019

SLC6A1 Gene

Maxwell is surrounded by guardian angels and his army grows daily.  One of his guardian angels is a woman named Laura Leavy with Thrive Mortgage.  Thrive Mortgage & Legend Title host an annual business mixer & client appreciation charity gala.  Laura Leavy selected our non-profit to be the recipient of the gala this year!   We could not be more humbled, honored or excited for this fun filled event.  There will be a red carpet, wine pull, raffle, silent and live auction items.  The evening is going to be an absolute blast with confirmed celebrities:

  • Colorado Forward JT Compher
  • Colorado Defensemen Nikita Zadorov
  • PGA Tour Canada Pro  James Love
  • NFL & CU Buffalo Justin Drescher

 

Friday, March 8th, 2019

Infinity Park Events Center

7:00pm – 10:00pm

$40 per Ticket

Business Attire

Please join us for the star studded event!  We look forwarding to seeing you there!  Thank you again to Thrive Mortgage & Legend Title.  Tickets can be purchased here:

BUY HERE

 

 

 

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Happy Valentine’s Day

SLC6A1 Gene

Maxwell and Riley celebrated Valentine’s Day together.  They enjoyed a culinary adventure of chocolate chip pancakes with fresh squeezed orange juice over candlelight high chairs.  The best friends enjoyed each other’s company.

Could there be anything more sweet than this!?!

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Happy Valentine’s Day

There’s No Place Like Home

SLC6A1 Gene

I moved to Pueblo, Colorado when I was 13 years old and eventually graduated as valedictorian of South High School. Like many college-bound youths, I traded the familiarity of home for someplace new and exciting–in my case, Denver–but I’ve never forgotten my years in Pueblo. When I go see my mom, who still lives there, I love to revisit my favorite places. Walking down the historic Union Avenue, shopping in Seabels, and eating green chili delicacies–there’s so much to love about Pueblo! And, above all else, I most love Pueblo’s strong sense of community – it is second to none. It is a community that prides itself on authenticity and helping a neighbor in need.

 

When Maxwell was first diagnosed with SLC6A1, I found that my friends from Pueblo were the first to call, text and offer assistance in any way possible. Even friends of my friends reached out, resulting in many new and welcome friendships. One of my best friend’s friends, Bethany Kostecka, had her entire kindergarten class make Christmas cards for Maxwell, complete with sweet little notes of encouragement. Those cards are now the “wallpaper” in his bathroom, and we admire the beautiful artwork while the twins take their nightly bath. Another dear person, Autumn Tozer, reached out when she heard about Maxwell and asked what she could do to help. Autumn’s family owns my favorite restaurant in all of Colorado – the Do Drop Inn. It is the best pizza I have ever eaten, and so good that Mark bought a separate freezer for our garage to store pizza. (I wish I was joking!) The kindness from Pueblo has kept on coming, and we are immensely grateful!

The Pueblo Chieftain newspaper was the most natural fit for our story. As I made the familiar drive to Pueblo for my interview, I fought back nervous jitters as I wondered what to expect. My nerves were immediately eased when the Chieftain’s empathetic report staff listened to my story and took careful notes. As I made the return trip to Denver, I was confident our story was in good hands. The article appeared on the front page of the local section today, January 27th, 2019, and I could not be happier. Please take a moment to read about our journey:  Pueblo Chieftain Article

A First Birthday to Remember

SLC6A1 Gene

Mark and I have dear friends named James & Aimee with a beautiful daughter named Vero.  Vero is just a little younger than Maxwell & Riley.  We knew the kids would be best friends from the moment we found out Aimee was pregnant.  In fact, Vero and Maxwell are probably going to get married.  Vero has been the most fun play date while James and Aimee have been a constant source of friendship and support.  You could not ask for better friends.  Adorable little Vero celebrated her first birthday yesterday. You can imagine my reaction when a message landed in my gmail that in lieu of gifts, Vero preferred donations to help Maxwell. My eyes filled with happy tears. The kindness is overwhelming.

Vero

Vero’s 1st Birthday was the social event of the year.  Vero was dressed in ruffled navy dress to complement her smash cake and Maxwell wore his 3-piece suit to impress Vero.  Vero was successful in enjoying her smash cake and Maxwell was successful in impressing Vero.  Every party attendee loved on Maxwell and wanted to help us along our journey even though Riley jumped in the smash cake.  I am learning that this journey consists of very high highs and very low lows.  Yesterday was an excellent day.

New Year’s Obsession

SLC6A1 Gene

My hope for 2019 isn’t necessarily a hope – it is an obsession to cure my son’s neurological disease.

I reflect back to my family this time last year.  We knew Maxwell was developmentally behind his twin sister Riley but we still clung to the dimming chance that he was just a late bloomer.  Test results continued to come in worrisome but there were no answers.  My eyes were nearly swollen shut from crying at night, crying in the shower, crying in my office bathroom and crying in the car as we struggled to even tell close friends that Maxwell was not okay.  The words could not come out.  I remember feeling terror and panic so strongly my arms would go numb and I could barely breathe.  We never could have imagined or prepared ourselves for the road laid ahead.

We finally received Maxwell’s devastating diagnosis in May.  The diagnosis was actually worse than some of the worst case scenarios I had created in mind.

I sat with numb disbelief. 

How could this happen?  Why did this happen?  Why couldn’t it have been me? 

I pleaded with God to allow me to trade places with my sweet boy.  Total defeat and depression would have been easy in that dark moment and I may well have chosen that path if the diagnosis was for myself.  But it wasn’t for me – it was for my baby, Maxwell Norman Freed.

The remainder of the year was a blur. 

We walked out of Children’s Hospital with the diagnosis and I frenetically began calling scientists.  Days consisted of physical therapy, occupational therapy and doctor appointments for Maxwell while balancing special time with Riley.  Every nap was an opportunity for a call with US-based scientist.  Nights were reserved for calls with people in Asia and Australia, applying for a 501c3 status, rallying affecting families, building a website, organizing a 50 scientist symposium, etc.

I could hear a clock ticking every time I tried to sleep knowing I was losing precious hours that could have been spent saving Maxwell from this disease. Even now, I often feel like an outsider looking in, like this couldn’t possibly be happening to our family, to our Maxwell.

One of the highlights of 2018 was receiving the call from an elite group of scientists with the news they were committed to developing a cure.  I remember the EXACT moment.  I was holding Maxwell when I saw a Dallas area code appear on my phone.  I quickly answered the call, nearly dropping Maxwell in the process and tried to speak in my professional voice even though my legs were shaking.  Tears of joy and relief streamed down my face as the scientists said they could help.  Mark was watching this crazy chain of events unfold and like any committed husband and father, kept asking what was going on as I shushed him and tried to take notes.  I touched the end button on my IPhone and started screaming.  Mark and I danced around the kitchen with the babies as we celebrated the news.    

The therapy will require a substantial fundraising effort. 

It is and will be very difficult to raise $1,000,000 over the course of the next year to ensure the therapy advances from bench to bedside.  But, I am able to fight for Maxwell in ways I never could have fought for myself.   That is what mothers do for their children.

As 2018 comes to a close, I thank all of you for fighting with me and following my story into 2019.  There are 7,000 rare diseases in existence today.  My prayer for 2019 is the SLC6A1 is no longer on that list.  Our journey will provide a blueprint for the next Maxwell Freed and their family in this world. 

 

Merry Christmas

SLC6A1 Gene

On this Christmas Day, we are reflecting on our many blessings.

We are more than blessed. We have beautiful twins. We have more good days than bad days. We have hope. We have a faith stronger than oak.

Merry Christmas! We hope everyone is having a wonderful day filled with joy.

Maxwell and Riley’s mom – Amber