SLC6A1 Connect

 

Hi, I’m Dana, I'm 11 years old, and I’m the founder of Cookies4Cures, a nonprofit run by kids, for kids. It empowers kids to make an impact on the rare diseases that impact them, their family, and friends by baking and selling cookies to fund research. When a kid has a rare disease with no treatment and no cure, research is hope. Cookies4Cures funds hope, one cookie at a time.

I am super excited to team up with Amber Freed and SLC6A1 Connect in order to help the next generation of these "rare" kids fighting for their lives. Amber is the amazing mother of Maxwell, a sweet 4 year old with a horrible disease called SLC6A1, which causes seizures, learning disabilities, autism, and lifelong challenges.

Please join me in helping Maxwell and all his SLC6A1 friends in raising money to continue to give them the hope of research.

This is me with a huge stack of birthday boxes. In SLC6A1 Connect, birthdays are a big deal. Lots of families use birthdays as a time to fundraise. It's a way to celebrate this milestone and build hope for future milestones. I send a birthday box to each kid to make their special day just that much more awesome.

Each birthday box has a bag of homemade cookies, a tube of made-from-scratch frosting, a bag of sprinkles, and a little birthday wish.

This is Amber with Maxwell, his twin sister, Riley, and their dad [what's dad's name? whoops!] Amber founded SLC6A1 Connect to help Maxwell and all the kids like him find a cure for SLC6A1. So much has happened! Because of SLC6A1 Connect, there is a clinical trial for Maxwell's disease happening right now! We are really hoping that it helps Maxwell, but it won't be a cure. More research is needed. 

Please help us fund hope for Maxwell and all the SLC6A1 kids. Please donate to Cookies4SLC6A1 today! Thank you!


With hope, butter, and love,

Dana and Cookies4Cures

 

 

Jaxon has a rare disease that can be cured and the only thing stopping us is money. You can help.

Some of you know that Jaxon has special needs. Very few understand exactly what that means and how he is impacted. At the age of 4 months, I knew that something wasn’t right. People told me that I was just comparing him and that all babies develop differently. I knew better and I kept pushing for answers.

He started physical therapy, speech therapy and occupational therapy at 6 months old. Glenn had to leave his job( I had the better insurance) in order to get Jaxon to all of his therapies each week. He didn’t babble, he didn’t hold toys and he couldn’t sit up on his own.  They suspected he was having up to 20 seizures a day and we were in and out of the hospital for tests.

In my search for answers we went through three rounds of genetic testing, each one diving a little deeper into rare disease. Shortly after his first birthday, we got an answer I never wanted to hear. Jaxon had a genetic mutation that causes a rare neurological disease. The disease is so rare it affects only about a hundred people in the world and there was no cure. 

We started searching everywhere for any information, and the more we uncovered the more bleak it became. 99% of the kids with the disease will develop epilepsy by the age of three. He turns three in January. Many of the children also find the gene drives autism and a form of apraxia that renders them unable to have any words at all. 

As these things became true for us, I piled on more therapies with the hope that we could defy the odds. While Jaxon has done just that, he is still impacted in a very profound way. He is delayed in every area, has spacial awareness disorder which has caused him to break his leg two different times, he doesn’t sleep more than a few hours at a time, and he has absolutely no ability to form words. 

His reality is the most soul crushing devastation a mother could imagine. Not being able to find your child the treatment he needs renders you helpless. While I am not hopeless, I am incredibly worried about his future. He has shown regression over the past few months which means he is losing the few skills he has that he worked so hard to gain. He has also become violent because of the extreme frustration he has when he can’t communicate. He understands everything going on but is locked inside of his tiny helpless body. We are frequently covered in scratches and bruises from his episodes. 

If you know me, you know I don’t typically complain. I have had cancer and more than my share of health concerns. Yet, I have never asked for help. I have always powered through. Unfortunately, this time I can’t just power through and I need help. We need help. Jaxon needs help.

An amazing mother about 20 miles south of us has a son Jaxon’s age that is affected as severely as Jaxon with the disease. She left her career to work full time on a cure for our kids. After meeting with over 209 scientists we have found someone to begin working on a gene replacement therapy that will cure our children. It will give them a shot at experiencing life just as you and I do. No threat of seizures. No inability to communicate. No risk of injury to self or others with the other physical and mental limitations. They have begun the process but it is very expensive. We need to raise a total of 4 million dollars. The good news is we are a quarter of the way there. The bad news is that we are running out of time and we need to ensure these scientists stay funded.

Here are a couple ways you can help right now. Donate. It doesn’t matter if it is $5 or $500. Your contribution will literally help remove a rare disease from existence and save children’s lives. Please consider skipping your next Starbucks trip and dropping that into our fundraiser. 

Second. Invite people to like this group and share our fundraiser. If you can contribute, thank you so much. If you can’t, please share because someone you know may be able to. 

Will you help Jaxon get gene replacement therapy? 

***We have never personally asked for money from anyone and never will. I am asking for your donation to go directly to the nonprofit funding the research. 100% of your donation goes to the creation of the therapy. The nonprofit pays no salaries and has no overhead.

After 2 years of IVF, Maxwell and Riley Freed were born on March 27, 2017 and made us the most happy people on the planet.  In an instant, our lives were filled with purpose while we counted two sets of 10 tiny fingers and 10 tiny toes.  We were ecstatic, content, and life was perfect.

At around 4 months, we noticed that Maxwell wasn't progressing like Riley.  Maxwell showed intent, but could not use his hands and could barely move.  Well-meaning family and friends reassured us that everything was fine but mother's intuition said differently.  Riley's milestones became bittersweet as it felt like Maxwell was slipping away in my arms.  I was helpless.  My fear turned to sheer panic as doctors desperately searched for answers along with us.  In May, my husband and I were led to a cold, sterile diagnosis room at Children’s Hospital where doctors confirmed the unspeakable.  Maxwell had a rare, sad, and completely unfair genetic disease that was essentially wreaking havoc on his neurological system.  The disease is too rare for a formal name and is only known by the gene - SLC6A1.  SLC6A1 causes developmental disabilities, a movement disorder and the onset of a debilitating form of epilepsy along with regression between 3 - 4 years.  The solemn faced doctors said nothing could be done as they looked at us with sympathy.  I saw my husband's bottom lip start to quiver.  The prognosis was bad.  It was the darkest moment of my existence.  It was sadness for which there are no words and a sadness I didn’t know existed.  I was robbed of my perfect life, but mostly I mourned for the life I envisioned for Maxwell when I heard his first sweet cry in the delivery room.
 
It was in that moment I decided to fight.  

Fight like I had never fought before.

Fight like a mother.  
 
I left my career and began calling scientists and I found hope.  Maxwell’s disease is a candidate for gene therapy replacement which would restore his neurological system function.  A group of scientists at UT Southwestern in Dallas was willing to develop the therapy that would not only help Maxwell, but every child with this condition.  This research will also directly advance treatments in epilepsy, autism, and schizophrenia.  My husband and I have used our resources for initial funding, but we still need to raise $1,000,000 in the next year to advance treatment from bench to bedside.  If we do not raise the money, the research will be tabled due to lack of funding. 

 We ask for your help today to become part of something larger than yourself.  We have an opportunity here to impact a large group of children that need help. 

 How can you help?
* Every little bit help.  Even $5 inches us closer to our goal.   If you plan to donate, we retain much more of your donation if it is made via our website:  https://slc6a1connect.org/donate-here/ 
* Please share our Gofundme https://www.gofundme.com/slc6a1-connect/
* Sign up for our blog: www.slc6a1connect.org, scroll down and add your name to the subscription box.
* Hashtag us #milestonesformaxwell, follow us on Instagram https://www.instagram.com/milestones_for_maxwell/ and like us on Facebook.
* We are a 501c3 and would like to join corporate giving platforms - our website is www.slc6a1connect.org