Tuesday, February 10, 2009

The Gift

I'm finally ready to take the plunge and actually post on the blog I started months ago now. It seems fitting, given the theme of my blog, to start with this story, written in September.

I stayed up too late again last night....waaay too late. I think it was 1am when I roused Paul from the chair where he had drifted off hours before and dragged him to bed with me. I didn't meant to stay up so late, I never do. Last night's excuse was that I needed to prepare for Abe's 10 year old checkup at the pediatrician. I probably put it off on purpose...after all, who prepares for pediatrician appointments? But after Ruby's (and then Paul, Abe and Oscar's) diagnosis with hypophosphatasia last Spring my life had changed again. Subtly, I admit. Living in the world of Prader-Willi syndrome for the last 7+ years, I was used to dealing with a rare medical condition --research, endless specialist appointments, educating doctors and advocating for the care I felt necessary. I was used to carrying around the weight of responsibility of obtaining care, and I even had carved a little space inside to comfortably carry the grief that really never goes away when you have a child with special needs.

In some ways then, hypophosphatasia was just another long word to spell, another list of symptoms, a few new specialists and another yahoo group to join. But, I'd be lying if it wasn't more than that. I was tired...and ready for MY life to begin. Life with Oscar and PWS had reached a temporary quiet spot and I was feeling like a marathon runner approaching a finish line even though I am not naive enough to think there is such a thing as a "finish line" when it comes to raising a child with a disability, or any child, really. However, that is how I was feeling right then. I had just happily agreed to speak to a group of occupational therapy students about parenting a child with PWS. I had visions of finally starting to write about my experience as a mom of a child with special needs. I had joined a gym and thought there was a chance I'd get there 2-3 mornings a week. In other words, I was finally taking care of ME. So HPP (yes, we get another acronym too!) felt like a huge blow, and that finish line disappeared from site. Suddenly I was back at mile 17 and feeling like there was no chance I'd ever make it.

When I finally got down to it, it probably only took me an hour to review the HPP medical literature I'd abandoned since June (when Ruby's genetic test came back positive), re-read some emails from the yahoo group of people affected by HPP, and collect Abe's lab results. I came up with a list of blood tests I felt he needed now and a list of things to monitor over time. I jotted down my questions about his activity levels, his vitamins. I pulled out the journal articles I wanted to refer to. When I finally rolled into bed I commented to Paul that it was finally striking me as odd that I so often end up buried in medical information when I'm not a doctor and don't have a medical degree. I'm pretty good at it (it was me that figured out from old blood tests that Ruby was not the only one in our family affected by HPP. It was me that convinced the geneticist to do the extra blood test that would help indicate the severity of her condition), but it's not what I had chosen as my life path. I think Paul was already asleep but, I heard me say that.

I love Dr. L., I always have. She's been our pediatrician since Abe was born 10 years ago. For two years we were just a typical family of a precocious and adorable little guy. Of course things changed when Oscar was born, but she was there for us from the beginning. I'll never forget asking her in the NICU, days after Oscar was born, if she was still up for being his doctor. Oscar was lying listlessly in his hospital bassinet and we had just found out he had Prader-Willi syndrome. It was overwhelming and I knew we'd need her help. I didn't feel like I had a choice to be his mom, but in that moment it was important to me to give HER the choice to be his doctor, whatever that was going to mean. I remember her hug, I remember her telling us we had a beautiful family and, I remember feeling like she was on our team no matter what. And of course she has been. At the beginning Paul and I would bring her literature on PWS and she would help us get connected to good specialists. She always listened, she was balanced and she was thorough. She also trusted us and always, always looked out for us as a family first, disability second.

When Oscar was a few months old she let him go to Tahoe for a family vacation once his RSV had stabilized. We had a nebulizer and the phone number of the closest clinic. I know it was a little risky because she had expected him to be hospitalized just a few days before. But she saw how responsible we were and she believed in the importance of family time. A few months later we went to Italy with a 5 month old Oscar. He came down with a cold and was fussy. We guessed he had another ear infection -- probably his 5th -- one for every month of his little life. We called Dr. L from Italy and she gave us instructions on how to reconstitute the antibiotics we had brought along. She saved us a day trying to track down medical care in a foreign country. She was helping us become a family, despite PWS. The list goes on -- when Oscar was 6 I brought him to her listless and complaining of stomach pain -- a potentially life threatening condition in Prader-Willi syndrome. She asked if I wanted an ambulance to get him to the hospital. I was shaky and scared, but I insisted I was ok to drive him there. To be sure, she sent along her grown son, an intern in the pediatric office, to stay with Oscar in the ER while I parked the car. So, yeah, she's been looking out for us for many years now.

When I showed up yesterday with my medical binders and my athletic, freckle-faced 10 year old she did it again. I was about 5 minutes into my summary of where we were with HPP and what I considered to be the questions and priorities when she looked over and asked "Isn't there a doctor who knows about HPP who can do all of this?" "No, I mean yes, but he's in St. Louis", I replied. "HPP is so rare, and our specific mutation was never before identified. No one else around here really knows much about the disorder." And that's when she did it again: she took the journal articles, the family HPP history chart I'd made, she jotted down my questions and concerns and she said "Let me do this. I'll read all of this. I'll call Dr. W. in St Louis and we'll come up with a plan. Just give me a few weeks. YOU go back to being a mom."

Had she noticed how tired I was? Did she see the tears of gratitude in my eyes? I'd always brought her info on PWS and we devised a plan together, which I loved and appreciated. But this time she just took it over. I swear I saw it again then, that finish line, reappearing in the distance. Of course I'll always be there for my kids. I'll always do whatever it takes to get them what they need, but she had just given me the biggest gift...the permission and ability to concentrate on being a just a mom of three wonderful kids and, importantly, the time to start taking care of myself a little bit too. Thank you, Dr. L!


  1. Mary:

    Great read. I had no idea you were also dealing with HPP on top of PWS. Ugh!

    It sounds like you have a wonderful pediatrican; what a great asset for you and your family. I will never forget the first time I took Ryan into the Pediatrian after he came home from the hospital. Before anything else, the doctor just looked at me and said "it's been a rough few weeks hasn't it?" It was so nice to have that simple acknowledgement before examining Ryan and getting down to "business".

  2. Mary, this is so great! You are a great storyteller and I'll bet parents of kids with HHS and PW will feel so lucky when they find your blog. As a mom, I feel lucky, too. I mean, even without reading this it's easy to tell what a great family you are, but this is a beautiful way to share it.