The Nameless One

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Everyone who has child with a named disease or syndrome has had to go through some sort of undiagnosed journey. We all start at the same place...the beginning, which can feel more like the end. From the moment you see or sense something is not the way it should be is the moment it all begins. There is the waiting for test results and thoughts of a bleak future that engulf all of the senses. These feelings are the same between the diagnosed and undiagnosed and yet the difference is so clear. The difference happens when you reach that proverbial Y in the road. At the point of a diagnosis there is a path for you. It might not be the expected path and it is usually overgrown with uncertainty but it is a direction. Without a diagnosis none of those paths are yours. You are stuck and alone except for the very few other people who get stopped at the same place. Like the island of misfit toys, all that we have holding us together is our struggle. Nobody knows what to say because we just have a list of symptoms and no known cause. We lack that one term that could sum it all up providing clarity and validation...not necessarily a term that describes the state at which you exist on the giant spectrum of possibilities...but a term that says ok you belong here...here is what you can expect. More than just a support group, it's going to doctors' appointments and knowing where to start the dialogue. With a name there wouldn't be the judgment that comes with the term undiagnosed syndrome; that it isn't a real thing or  just something you made up. It's the explanation to friends and families or a new parent at the park who looks at you with questions. I once had a person say to me that a friend of hers saw my daughter and with an element of disgust asked what was wrong with her. Not only was this a very hurtful comment but made me want to hide my child because I didn't know what to tell people. I don't want anyone thinking and absolutely not telling me anything hurtful about my sweet and innocent little baby girl who I LOVE no matter what. In my mind, if I had only had a name, strength would follow. I would say it loudly ...This is the card we were dealt and we are going to play this better than anyone else. I seek the label that shouldn't hold people back but rather help them to progress forward. A road map of what we know but an open end of hope for a positive direction.

Every Step of the Way

A little different from my usual blog but felt this was too important not to share. When you find someone who makes such a difference in your life, it is important to share the wealth with others. Even if you live far away, this doctor is travel worthy. This is my opinion and I am in no way being compensated for this.

I am on my way to having seen what feels like every physician/specialist in the state of Washington. Several have been good, a few have been exceptional and one has been remarkable. 

I have never been the best patient and have tried to avoid doctors' offices all costs. So with my last two pregnancies I decided to go with a midwife. Our appointments were an hour long and it felt like a pregnant moms' playdate. My midwife and I, together would share in the excitement, emotions and physical aspects of pregnancy. I loved going and I love my midwife. Often, I wish I were still pregnant so I could keep going. I have complete faith in the homebirth/midwifery process and still do to this day. It scares me to think what would have happened if Ellie had been born in the hospital...would they have immediately taken her from me to run test? Those first few days of bonding were so special and important and already gone too quickly.

On "the day" that set into motion this diagnostic odyssey I knew however, I just had to get to a physician's office immediately. My midwife, whose opinion meant the truth to me, had always said how much she liked Woodcreek Pediatrics. I had called them in the past but dismissed them as an option because they were just too far. However, on that day when I needed to be seen asap, it was Woodcreek who got us in within the hour. A very nice pediatrician saw us and she referred us to their on-staff geneticist. I was so surprised to learn that they had a specialist like that in their office...like a hidden treasure for only few to find.  The next 24 hours seemed like forever but at 12:00pm we met our first miracle. Dr. Lawson Yuen was sweet and soft spoken from the start. She had the perfect temperament for a hysterical mom who thought her child's life was over. She was kind and patient. She took time examining Ellie and offered reasonable explanations for most of the anomalies we were reporting. At the end of our appointment we knew that only genetic testing could provide the answers we were seeking. We left more calm than when we arrived and for that brief moment in time, a sense of peace came over us. A reassuring vibe that this WILL be OK and we can hope for the best.

And now, almost a year later, Dr. Lawson Yuen has been with us every step of the way and proven to be so absolutely, amazingly wonderful.  She always spends so much time with us, never inches towards the door, is always listening and bless her heart, always tries to give us a glass half-full response.  She is thinking about my child which is more than I can ask for. It is so easy to feel like just another patient that is forgotten the second you leave. Without the help of a physician guiding you through this process you are so easily lost between the cracks. She is the light leading the way. She took our case and presented it to hundreds of geneticists for feedback. And then, emails me at 11:30pm to let me know how the conference is going and who she has talked to about Ellie. She stays current on the constantly changing world of genetics which is not always the case for some geneticists. She is very well-respected within her community and everytime I mention she is our physician to a specialist at Mary Bridge or Seattle Childrens, nothing but kind words are spoken as she is so highly regarded.  She never seems bothered when I ask her her thoughts on syndromes I find on the web or advice from other physicians. She answers our concerns at all hours of the day and night. She might be part-time at the office but I know she works overtime for us.

When you are seeing hundreds of physicians it's nice to have a trusted advisor to help you sort through all the opinions, weed through the unnecessary information and proceed with what really matters. Dr. Lawson Yuen hasn't given up on us. Even when it would be so easy to say "Sorry I don't know", she comes up with the next step to keep us pushing forward. She doesn't set the pace but allows us too. I love her so much for all that she has done for us. She has restored my faith in physicians; that there really are people who commit their lives to helping others. I suppose that this was something I was meant to learn.

It's easy to lose hope when you continue not to get answers. I have hope that if there is any possibility in finding answers, Dr. Lawson Yuen will point us in the right direction.

                                                    Dr. Amy Lawson Yuen