If you were keeping up with me on social media last week then you probably know that I was in Spain for the sixth International Congress on Achondroplasia and other Bone Dysplasias. This three-day event is put on every four years by Fundacíon ALPE Acondroplasia. ALPE is such a wonderful organization that provides information, gives support, sponsors medical advice and creates bonds for families and children with achondroplasia and other forms of rare bone dysplasias. I had the honor of meeting Estefánia and Susana earlier this year while in Maryland for the Joint Pediatric Advisory Committee and Endocrinologic and Metabolic […]
If you don’t already know, October is dwarfism awareness month & if you weren’t aware, I have dwarfism – obviously. I know it’s hard to tell *sarcasm* So I thought I’d participate this month and share a bit here and there about my thoughts, feelings, and opinions about it all – so let’s go ~ I was born with the most common form of dwarfism, achondroplasia and I’m going to be real here and say that having dwarfism IS NOT JUST BEING SHORT 🤜🎤💥 *mic drop*
Ok so the title may have been a little clickbait – sorry 😂 – TBH Dr. Standard and I did talk about it (I’ll get to that later) You probably already know but I was in Baltimore last week. It’s been a while since I’ve seen Dr. Standard and I’ve had a few things that I have been wanting to discuss with him in person – it was also Save-A-Limb weekend. The appointment went great. One of my main reasons for this appointment was because I turn 25 in a couple of months which means I only have one […]
Therachon is a pharmaceutical company developing a treatment with the goal of reducing the burden of complications of achondroplasia. In this regard, we are seeking U.S. based patient volunteers to be filmed in a short video intended to train health care professionals working on our clinical trials. The training will focus on best practices for measuring patients with achondroplasia, with a particular interest in areas that relate to the complications of achondroplasia.
BASEL, Switzerland, June 21, 2018 – Therachon AG, a clinical-stage biotechnology company focused on rare diseases, today announced the start of “Dreambird,” a natural history study of children with achondroplasia, the most common form of disproportionate short stature in humans. The “Dreambird’ study will prospectively assess the burden of complications of achondroplasia in approximately 200 children across multiple sites in Europe, Canada and the United States. The study will pave the way for future interventional studies with TA-46 and also support the development of key biomarkers of bone tissue growth. “Knowledge of the natural history of achondroplasia and identification […]
In honor of National Doctors Day, I’m sharing an interview Dr. Standard and I did for Growing Stronger‘s LPDocTalk program. We discussed limb lengthening for dwarfism from a surgeon’s input and a patients perspective. Click here for full interview.
On May 11, 2018 I had the opportunity to speak on behalf of myself at the Food and Drug Administration. I spoke in support of furthering medical options for achondroplasia. It was a surreal experience to present my stance on the matter to the advisory committee and voting members who have the power to make change for children who may benefit from this option.