Fundacíon ALPE Acondroplasia 2018

Fundacíon ALPE Acondroplasia 2018

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 Drugs Advisory Committee Open Public Hearing.


Susana, Estefánia, and Carmen from Fundación ALPE Acondroplasia

This was my first time attending the ALPE Congress and I can say first hand that in all the ways it’s similar to a Little People of America National Conference or Regional it’s also very different. Like at LPA, they had world-renowned medical professionals and dwarfism specialists from all over the world attending. What was different about it is they also had four pharmaceutical companies there presenting on the latest research and potential therapies for the FGFR3 gene – FGFR3 is the location of the genetic mutation that causes achondroplasia.

The discussion of ‘treatment’ for achondroplasia can be very sensitive for some and the way ALPE presented it at their Congress was very well thought out and informative. The four companies that were there were Ascendis Pharma, BioMarin, QED Therapeutics, and Therachon.

In addition to the pharmaceutical companies, there were other specialists there ranging from genetics to orthopedics. Dr. Ravi Savarirayan is a clinical geneticist and Group Leader of Skeletal Biology and Disease at Murdoch Childrens Research Institute.

Dr. Ravi’s primary clinical and research focus are the inherited disorders of the skeleton causing short stature, arthritis, and osteoporosis.

Dr. Ravi Savarirayan and Chandler Crews

Orthopedic specialists William Mackenzie from Nemours/Alfred I. duPont Hospital for Children and Dror Paley from Paley Orthopedic and Spine Institute were in attendance as well.

Dr. Dror Paley presenting at the Orthopedic and Reconstructive Surgery Panel at the sixth International Congress that the ALPE Achondroplasia Foundation.

It’s such a different experience being able to see topics such as ‘treatment’ options for achondroplasia and limb lengthening being discussed without any fear of backlash from those opposed. Just to clarify, I support anyone who decides against these options,. However, I find it very important that we don’t shy away from these discussions in the dwarfism (achondroplasia especially) community despite who may be for or against these options.

One thing about those with achondroplasia in Spain is that a majority of them have limb lengthening. In Spain, it’s actually more common to have limb lengthening than it is to not have it! They even had a few booths on display from medical device companies that manufacture different fixators used for limb lengthening.

After the NuVasive representative explained to me what exactly the PRECICE was it was funny to see his reaction once I told him that I actually had the PRECICE rod and that my surgeon in Baltimore was a developer of it – he was pretty impressed 😂

Overall, it was a really great weekend and I can’t wait for the next in four years. I know ALPE would love for Dr. Herzenberg and Dr. Standard to attend the next one which I think would be awesome.

I also can’t wait to see what it will be like in 2022 because by then there may be different drugs on the market that help prevent some of the complication and risk factors that can come from achondroplasia.

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