We are on target with our pre-clinical work at Jackson Labs in Maine. CureCMT4J funded the creation and production of the viral vector to be used in mice this April/May.

Jakeb’s CMT4J is starting to progress rapidly. His hands ache all the time. Sometimes he has a hard time breathing. Leg braces help, but he still struggles to climb stairs or walk longer distances without tiring.

These are some of the ways my daughter Talia is funny. If you meet her sometime, maybe you’ll agree. But you have to kinda spend some time with her and she’s gotta have time to figure you out. But then she can be pretty funny. Trust me.

After three months of fundraising, relearning science on a cellular level, and lots of logistical planning, the Talia Duff Foundation hosted the first meeting of world-experts in CMT4J in Bethesda, MD at the end of September.

While on vacation this summer a family from Washington reached out to us after seeing Dr. Jun Li at Vanderbilt University. We emailed back and forth several times before actually finding a time to talk—that three-hour time difference can make it tough to connect! But finally, on an unusually chilly night in August, I sat outside and listened to Ethan’s story.

September is a bitter-sweet celebration for most Moms I know. It is hard to say “goodbye” to those lazy, unscheduled days spent reading on the hammock, followed by a luxuriously slow, we’ll-get-there-when-we-get-there trip to the beach. The race to get out the door forgotten, the nightly slog of making lunches gone. And yet, the lack of routine and nagging leave my kids reverting back to bad habits and hair that’s gone un-brushed for days. But in our house September carries with it a push-pull of joy and sadness that feels even more magnified.

I realized that a large part of parenting was giving up on the plans you had for your kids and accepting that they were going to have their own path. But I didn’t give up on instilling in them a love for the outdoors. Hence, the kayak. Kayaking seemed like a decent compromise. It didn’t matter that she couldn’t walk — we could still have adventures outdoors. If her extra chromosome had cursed her with loose joints and low muscle tone, there was no reason she couldn’t wield a paddle in the front of a two-person kayak.

My husband will tell you that it is hard to be me. I tend to live life with a slow, constant trickle of worry that ebbs and flows depending on the health and happiness of my children and my patients. Going on vacation can sometimes be a challenge. Lying on a secluded beach, surrounded by warm sand and water certainly sounds dreamy, I know, but it can be hard to flip the switch in my brain to relaxation mode.

Turns out it is possible to find the Forever Fix – it’s at the local library. Or it will be when I return my copy. I’ve been raving recently to anyone who’ll listen (and probably some who don’t) about a book I found on genetic therapies called The Forever Fix: Gene Therapy and the Boy Who Saved It by Ricki Lewis.

From bake sales to lemonade stands, to fishing derbies, to the wave of support for our YouCaring page, the love and support from our community, family, friends and strangers is overwhelming.