The Wonderful Wizard of SLOS

Harper Merrick Wolinetz, our little bean, she of the beautiful name and sweet face, is going to die. That was the takeaway of our meeting with Denny Porter at NIH.

It is very strange to come to NIH as a parent, instead of as an advocate.  I have been to the campus probably hundreds of times. Sat across the table from two NIH Directors and probably the director of every IC. Eaten a lot of terrible cafeteria food, sat through stultifyingly boring meetings, and had my steering wheel swabbed dozens of times. I’ve probably collected enough security pass stickers to wallpaper my living room.

And I am a true believer in what NIH does. It’s not just my job – I really believe we owe our improved health to medical research. That vaccines are medical miracles. That people no longer die of many conditions that threatened our parents. That NIH serves as a symbol of hope for patients and their families who are facing incurable illness.

Except now the patient’s family facing the incurable disease is me. And for Harper bean, there is no hope.

And even those on a first name basis with the Director of NIH have to fill out a lot of irritating paper work to talk to someone in the Clinical Center.

Dr. Porter, the Wonderful Wizard of SLOS, really is as amazing as every SLOS family has told us. Compassionate, intelligent, kind – everything you would hope for in a clinician scientist. While it was not news to us, he gently affirmed that Harper’s case of SLO is unambiguously severe. “She must be strong,” he told us, because most babies with cases so severe are not born alive. He thought that our plan for hospice was a reasonable one and that we need to focus on her comfort. He gave us advice on talking about Shea about what was happening and offered his support as we decide whether to move ahead with having more children. Dr. Porter told us that SLOS babies tend to be fussy when you hold them, it’s part of their disease. Hold her anyways, he told us. Know that even as she fusses, she gets comfort from your presence.

How long? Soon, he thinks.

In this moment, I am numb and tired. I am back to being able to talk calmly about calling hospice. About making treatment decisions.

Not so earlier when I was in the hospital, feeling my baby slowly get sicker as I held her in my arms. As I learned that my little Harper bean was blind, that she would never, ever see her Mommy’s face. As I thought about the nine months she was inside me, kicking me, filling me with hopes and dreams for her, keeping me up at night with worry as every medical issue was revealed. I will never see my little girl grow up, never hear her laugh or dance or run, never hear her sing,never hear her first word or know what her favorite food is, never see her Daddy walk her down the aisle – or the millions of other memories we make as a family.

I don’t want to plan a memorial service for a daughter I feel like we barely know. Who I’m starting to believe I will miss forever. Not sure if I will really be strong enough to say goodbye. To spend the rest of my life telling people I had a daughter and she died. 

For now, I'll just say goodnight. Goodnight, bean. Mommy and Daddy love you.