Hello again! In continuation of Rare Disease Week, we want to talk specifically about the rare disease that affects our kids and families, SLC6A1 Epileptic Encephalopathy. SLC6A1 epileptic encephalopathy is a rare neurological condition in children that causes seizures, severe movement and speech disorders, and intellectual disability. As rare disease parents, we simply cannot Read more…
I was exactly 34 weeks pregnant, and it was the day of my maternity photoshoot. Our sweet photographer said 34 weeks is the perfect time because women are glowing, but that is not the case when you are 5’2, 100 pounds and carrying twins. I could barely walk, Mark put Read more…
Only 4% of Federal Research Funding is Dedicated to Pediatric Cancer and the 5-year Survival Rate is 2%. Rare Pediatric Diseases are Mostly a Death Sentence for a Life that Never Began. Today is a terrible anniversary for my dear friends, Chris & Chantal Pittman. My family was entrenched in Read more…
Learn to be Thankful for What you Already Have, While you Pursue all that You Want – Jim Rohn A month ago, I sat in the waiting room as Maxwell finished up his horse therapy session. Gone are the days where his episodes of jerky, uncontrollable movements could be confused Read more…
JP Morgan hosts the world’s largest healthcare conference every year in San Francisco. If you want to learn about the latest innovation and advances in biotech, the conference is the place to be. Not only does it boast world renowned talent, it is also a source of hope for patients. Read more…
I will literally do anything to help Maxwell even if it requires smuggling mice internationally. Before I even dive into this blog post, BuzzFeed has done an incredible job telling my story – from developing a gene therapy to creating mutant mice in China – to help cure SLC6A1. If Read more…
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 Read more…
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 Read more…
The link to the article didn’t go well for some folks…click here: Huffington Post Article
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 Read more…