Great Doctor

Great Doctor

Yesterday morning, Matt and I took the kids to NIH for an appointment with our geneticist. She has been the kids' doctor since we moved back to DC almost 3 years ago. She left Children's last year and we decided to keep things simple by staying within the Children's system and transferred to another geneticist. Big mistake. First impressions were not good. He hardly took any time for the appointment and he felt like his role was simply in the diagnosis and not in their care. I called our former geneticist and she was happy to see the kids at NIH. Praise God!!

She is a fantastic doctor, well versed in lysosomal storage disorders. She gave us 3 hours for the appointment!! She oversees all aspects of their care, which is exactly what we need. And she is always on the look out for news involving Sanfilippo research. I can email or call her, knowing I will always get a timely response.

I am so thankful we have her as the head of our medical team. I left the appointment relieved to have someone so knowledgeable helping me make decisions.

Comments

Welcome to Holland

By Emily Perl Kingsley

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland.""Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."But there's been a change in the flight plan. They've landed in Holland and there you must stay.The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.