BIG, Big Gene Update…

Imagine going to your practitioner and having lab tests ordered. You receive the results, but you AND the ordering practitioner have no idea what the results mean. Imagine what it would be like to slowly display health deteriorating symptoms, but no expert or specialist can pinpoint the cause of your ailments. These scenarios, while nonspecific, are #rare but are very real for few.

In February 2018, we received a phone call that put our family in the company of those few. It was conveyed that Landon’s CAMSAP1 mutation COULD be the cause of his condition but this was not definitive, which makes it a finding known as a “candidate gene” in the world of genetics. It COULD be the cause, but [we] don’t really know.

The important takeaway from this explanation is that CAMSAP1 has been identified as a “candidate gene” since then. The huge underlying issue with this classification is that CAMSAP1, as a “candidate gene”, would NOT qualify for federal funding. Only disease-causing genes, such as those associated with conditions like cystic fibrosis or muscular dystrophy, receive access to this type of funding.

In January 2019, we sent an email to a researcher in the Netherlands 🇳🇱 named Dr. Anna Akhmanova, who studies the biological effects of the CAMSAP genes (1, 2, and 3), and simply thanked her for the work that she does. Graciously, she replied back and briefly exchanged ideas, but months passed without communication. That would be the case until, Friday, October 11th…

As opposed to waking to the alarm clock ⏰ that morning, we woke up to a very unsuspecting email from Dr. Akhmanova as a means of introduction to two neuromolecular geneticists, Drs. Crosby and Baple, from the United Kingdom 🇬🇧. One hour later, we received an email from Dr. Crosby who informed us of two ✌🏻 other children that they have identified with CAMSAP1 MUTATIONS!!!

THIS IS HUGE NEWS!!

First off, this means that Landon may just be 1 of 3 [identified] people in the world 🌎 with a CAMSAP1 mutation. Assuming that there are 7.7 billion people on this planet, that’s just 0.000000038961% of the population! Secondly, this will likely lead to reclassifying CAMSAP1 as a “disease gene”! As mentioned, “disease genes” are also more likely to receive funding to be studied. 🙏🏻

Yesterday, Landon’s parents, with Landon 😃, met with researchers at Washington University in St. Louis School of Medicine and had a conference call with Drs. Crosby and Baple. We agreed to work together towards better understanding CAMSAP1 while avoiding duplication of our efforts. We hope to be introduced to the families of these individuals soon as they will be visited by our UK colleagues next week!

Thanks for walking with us throughout our journey and supporting us along the way! More exciting news to come soon…