What's New with The Birds?

Nicole and Jonah sleep in a hospital bed

It's been a tough month for us Lytles. A hospital stay for Jonah (not uncommon for an ADSLD Warrior) and an epic fail for both kids trialing a new medication. So now, we rest, recover and take it slow before trying anything new to treat these DAMN SEIZURES.

It has been difficult to get much done for Rare Birds Foundation as my kids come first always. But progress has not stopped completely. So what's new?

We are awaiting our second drug repurposing screen. We are scheduled with a company for lab time in March, but in the meantime, I'm researching ways to get this work done for a better price or with more efficienct methods. I've learned so much in communicating with different labs. For example, I had never heard of a "paralog" before.

A paralog is one in a set of genes that have diverged from each other as a result of genetic duplication. The idea is that there are genes that may serve the same purpose, so if one is deficient (like the ADSL gene in our kids) the paralog expression can be turned up or down (up-regulated or down-regulated) to cover the mistake. The paralog for the ADSL gene is a gene called ASL. There is so much to learn in the field of genetics, it definitely keeps my brain spinning.

In other news, a goal for Rare Birds is to find a doctor that would like to treat our children as a group. There is no expert in this disorder, in fact, it is rare to find a doctor who has ever seen more than a single case. This means, without a doubt, our kids are not getting the targeted treatments they need. This is one reason I booked myself a trip to the Global Genes Rare Drug Development Symposium this Spring. I'm on the hunt for a doctor with an interest in "translational science." This is a term to describe someone who seeks to translate research into clinical use. We need someone who can take years of journal articles and patient experience and help us develop a treatment protocol for our kids. After all, what is the point of all of this research if it isn't helping patients?

I've reached out to the doctor of one of our ADSLD families who is just this kind of doctor. He may be helpful, or may be able to connect us with someone who is. In any case, this kind of forward movement has been on my mind, especially with our recent hospital stay proving that doctors do not understand our kids or want to listen to parents who may know more about the disorder than they. Perhaps, this symposium in April will help me connect with more translational doctors! Hope springs eternal.

Lastly, Rare Birds is beginning a Data Collection Campaign next month with Rare-X! To be "research ready" and appeal to these well-funded, world-class doctors we need to present them with our patient data in a clear, concise way. Rare-X's data collection platform will help us collate our lived experiences of the disorder into anonymous data that can be shared with whomever we choose. The data is collected through surveys our families will complete. From there, we will begin to see a very clear picture of the disorder. And very soon, these surveys will be available not only in English but also in French, Spanish, and Portuguese. As a PAG serving a global patient group, this is very exciting news!

So hey, are you a patient, a parent caregiver, or ADSLD sibling that would like to contribute to this blog? We want your voice here! Contact me at nicole@rarebirdsfoundation.org to be added to the contributor list.

That's all for now!

Cuddle time is the best recovery method