Honoring Layla

On Monday, we sent an email to our contact registry participants announcing an initiative to encourage and facilitate the collection of central nervous system biospecimens from M-CM patients. Board member Leslie Sanderson and I have been slowly working on this initiative since spring of last year.

The work that we do to try to advance scientific and medical understanding of a condition as rare as M-CM feels like it stretches between the miniscule and the enormous. Resources are scarce - this is not just money but also expertise - so we look at the assets we have and figure out how we can leverage them, how we can take steps forward, continually, even if they are the tiniest steps. Sometimes we are just stepping sideways. Occasionally, we've wondered what we have stepped in.

The first thing we did, with the amazing and generous help of expert collaborators, was publish a thorough description of the syndrome. Because of this, from the very beginning, we have heard from grateful families that found a diagnosis through our website. When we have helped someone find the very obscure and necessary information that they need, we've done something enormous for that person. We know this in our bones because we've been in those shoes. And this squashes any feelings of futility that come with all of those baby steps and all of the sideways steps.

Our biggest, shining asset is the community of affected families that has been online since before the founding of the M-CM Network. When we think about making progress, we first think about how we, as a formal organization, can amplify the power and knowledge of this informal community. We have been slowly picking off inexpensive ways to do this: forming a contact registry and using it to communicate research opportunities, conducting a survey and publishing the results.

The next step that we identified for bridging the community to research was banking biospecimens with federally funded institutions for use by researchers. For M-CM, the most relevant tissue is from the central nervous system. In late 2013 the NIH announced a new emphasis on brain banking that generated a lot of conversation in the medical research community. We started seeking advice from other disease organizations to identify an arrangement that would be optimal for donors and researchers.

Talking about brain banking is not for the faint of heart. Many rare diseases can make progress with a blood draw, a cheek swab, or some spit. Brain banking generally involves post-mortem tissue, and we had one bank representative hesitate to discuss procedural details with us, parents of patients. We knew that many M-CM patients will undergo surgical procedures where cerebrospinal fluid could be collected, and we imagined CSF collection as a baby step in this endeavor. Brain surgery is no picnic, but framing this initiative largely around surgical donation rather than post-mortem donation was certainly a comfort.

When we announced our initiative on Monday, we saw it as planting the seeds for a forest that would take a very long time to grow.

The next day, on Tuesday, Layla Jo Hedrick, a young child with M-CM, passed away after a short illness at LeBonheur Children's Hospital in Memphis. Layla's family then did something enormous, donating Layla's post-mortem brain tissue to research through the program that we had announced the day before. LeBonheur facilitated the arrangement and additionally will publish a case report about Layla. Sarah told me, “I think it's such a beautiful thing that she will be able to help others even after her death”.

Layla will be laid to rest tomorrow, and with her mother, Sarah's permission, I wanted to share her story with you and give our wider community the opportunity to appreciate Layla, her family, and this gift to the community of patient families. It’s also a gift that validates the small steps that we take as an organization, for which I am personally grateful.

Layla's family has set up a Memorial Gift to Le Bonheur to honor Layla. Layla's obituary is here.

We wish Layla’s family peace and comfort, as well as the families of other children for whom M-CM has caused an early and tragic death.