By the time Jukie was diagnosed at twelve months of age, we had already spent one year with our “typical” baby. He was going to grow up, go to college, get married, and probably have a family of his own. And before that, he was going to play on a soccer team, attend his big sister Geneva’s school, and experience the usual childhood that everyone takes for granted. Instead, just before his first birthday we learned that he was born with a serious and rare metabolic disorder called Smith-Lemli-Opitz Syndrome (or SLO). Wow. It was Thanksgiving weekend when we got the phone call; we were in Las Vegas to spend the holiday with family. In shock, I tucked that news into a compartment in the back of my mind. And the genetic team encouraged us to live in this compartmentalized denial. They told us that Jukie was so unusual for the syndrome that it made no sense for us to learn anything about it. And, hey, if the specialists thought I should bask in denial… who was I to argue? I could ignore devastating news if that’s what was asked of us. And it was – so I did.
After a few months, I slowly started to realize that the medical team was wrong. Jukie WAS seriously impacted by this syndrome, and I had to face it. So, I did what I do best: I started building a community and a system of support. I began regularly meeting for dinners with other moms of kids with special needs. I loved getting to know these women, and found sharing stories, hopes and fears immeasurably helpful. But something was missing – the other parents of kids with Jukie’s diagnosis. SLO is so rare that there are only a handful of (known) families touched by the syndrome in each state. The problem was that I didn’t feel that we belonged in that community. In just about every way, Jukie was unusual, for, unlike other kids with his syndrome, he was meeting his developmental milestones. I thought that the other SLO families would have a hard time accepting Jukie. And, honestly, I was afraid that contact with families whose kids weren’t doing as well might depress me.
Everything changed when I received a phonecall from Fargo, North Dakota. The call came from a woman named Gretchen who had read something I had written on the internet about Jukie. I could hear the agony in her voice. She thought that just maybe her son Markie had what Jukie had. I heard a kindred spirit and loved this woman instantly. In some odd way, I felt as if we had known each other forever. We talked for hours. Even though the Mayo clinic had told her that Markie didn’t have SLO, Gretchen and I consulted with each other as two laypeople (Mommies!) and concluded that he did. To make a long story short, he was tested again, this time positive for SLO.
And that’s when my life started turning in a new direction. Gretchen and I talked endlessly on the phone, giggled about our silly similarities, nicknamed each other “Toots,” and understood each others’ lives like no one else could. In league with my husband Andy, Toots flew out to California to surprise me and visit for a long weekend. We hugged and cried in the street when we met. It felt like meeting a long-lost sister. Family. And somewhere down our lineage, we truly are family, for Markie and Jukie both have a rare mutation for SLO that only two others in the world are known the share, the M1V. What are the chances that one M1V Toots in Fargo, ND would find another M1V Toots in California? No chance. We know that we were meant to connect.
Four years ago, I didn’t know anyone other than Jukie who had SLO. Today, I know many, and truly cannot imagine where I’d be without my SLO family. We KNOW. Nothing needs to be said, no explanations necessary in order to understand each other. I feel as though all of the kids with SLO are nieces and nephews to me, and cousins to one another. Any of us would do absolutely anything for another SLO family member. And we speak shorthand. In fact, we even intuit with one another quite a bit. I once sent an e-mail to Toots mentioning a concern that I had about Jukie. The phone rang not five minutes later – at 11:00 PM. Toots sensed my anxious mood and knew to call, and I burst into tears the moment I heard her voice.
Technology enables us to participate in each other’s lives so much more than ever before. More than anything else, what I love about Facebook is that it has deepened our SLO community’s connection. We follow the kids’ and each other’s daily lives as if we were all just down the street from one another. So when Melissa writes that Carson is finally taking the bus to school again after a long hiatus following foot surgery, we cheer him on, knowing the struggle to get there. When Blossom isn’t herself, I worry about her health AND the sanity of her mama, Lotus, who is home taking care of her. I wait for pictures of Blossom smiling again, and know when I finally see happy photos, that things are better. Although there are so many more families than I can mention here, I want to say that I LOVE YOU ALL! You mean the world to me. Thank you – for EVERYthing.
Jukie will never read these blog entries, this record of our Jukie discoveries and hopes. And although that Thanksgiving phone call eight years ago was difficult to answer, with this blog I remind myself that I so appreciate all the lessons Jukie and his little SLO cousins have taught me. Who could have predicted that such a little guy would have so widened my world!