Blau was always a very personal battle. Growing up I never met or knew anyone even remotely like me. I’d never even heard of the diagnosis of Blau Syndrome. I was born in 1956, medicine and our knowledge of rare syndromes was very different back then. As a two year old presenting with an unusual rash and swollen optic nerves the doctors were flummoxed. A collagen disease? Stills Disease? And then Juvenile Rheumatoid Arthritis, diagnoses like this were thrown about. Thank god for the development of prednisone, it was the only thing that they knew of that slowed down the dragon I now know as Blau Syndrome. 

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 Years passed. I thought I was the same as everyone else. I started school, what an unpleasant awakening. I wasn’t the same. I was legally blind. I couldn’t see the board or my schoolbooks. My hands and fingers were twisted and deformed. My knees and ankles would swell so I couldn’t walk or get my shoes on. I spent sometimes months at the  National Institutes of Health for research and treatment. The kids let me know I was not one of them. I didn’t belong.

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But there was something about me. My mom always said she loved to hear me laugh and that laugh came easily and often. It saved my life. I think those were very painful years for my parents. They were helpless. They had no idea of what the future would hold for their little girl. My father had high expectations for his children, all five of us including me. We were to go to college. We were to make something of ourselves. My college professors let me know there would be no accommodations made for a blind student. If I wanted to make it out there I’d have to figure it out. I’d have to fight for it. It might sound harsh but I think it added to this attribute I consider perseverance.

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So coupled with that laugh and perseverance, life moved on. I finished college, then graduate school, moved out on my own, started a career as a speech language pathologist. And then I met a wonderful young man. It didn’t matter to him that I was legally blind or my hands were deformed. He was willing to face with me the unknown challenges that lay ahead. We made a home, traveled the world. Life was good. I thought I’d tamed the dragon, Blau Syndrome. I thought I’d beaten it.

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And then came one of the greatest joys a woman can ever know. My son Brian was born. He had my laugh and my perseverance. We were like two peas in a pod but sadly, maybe we were too much alike. Around nine months of age  Brian came down with a rash, his optic nerves were swollen, his hands swelled so he couldn’t use them. Suddenly I realized I had not tamed Blau Syndrome. It was not just my personal battle. Blau had found a way to hurt me more deeply than it ever could before.

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It seemed like we spent months at Children’s Hospital back then. Imagine my disappointment when treatment offered the same options as when I was a child, prednisone and steroid eye drops. The years that followed were filled with experimental treatments and surgeries. Still Brian lost all the sight in his right eye. We added uglier and uglier medications. Brian fell into severe growth failure. Luckily I found a compassionate endocrinologist who was able to get Brian on growth hormone therapy.

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And the years passed and life moved on. Brian grew into this mischievous, fun filled brilliant child who loved life and squeezed every drop of life he could out of this world. He went to college, started his own business, taught himself Japanese and planned to move to Japan and run his business from there after he graduated.

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And then it happened. The worst thing that can ever happen to a mother. It started innocently enough. A little cough. But it grew, soon Brian’s resting heart rate was 120. He couldn’t breathe or talk or eat at the same time. He needed oxygen all the time. Then came the lung biopsies and new diagnoses; interstitial lung disease, pulmonary hypertension, heart enlargement.

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Those were the darkest days of my life. Brian never made it back to college that semester. On Mothers Day weekend he suffered a severe pulmonary attack. He went into cardiac arrest. By the time we got to the ER he was on total life support. I was told several times that he would die that night. I stayed by his bedside that entire weekend. We had no idea if Brian was still in there.

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Then on Mother’s Day I swore I saw Brian move. I was told it was involuntary but Brian was able to move his finger and nod his head in response to my questions. It was a gift but sadly short lived.

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Brian never got off the ventilator except for several short days. His condition continued to deteriorate and after several weeks needed to be transferred to a Philadelphia university pulmonary ICU.  I’d never seen such dedicated doctors, who fought so hard to save my son’s life. In an act of extraordinary measures they placed him on an ECMO machine.

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I spent my last day with Brian on June 4th, 2010. No words were exchanged. It was enough to be able to touch his warm hand. Shortly after midnight I held him and kissed his forehead as I watched his last heartbeat slip from the monitor.

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No mother, no parent should ever have to survive that kind of grief  and I’m not so sure they fully do. I remember walking out on the rooftop of the hospital that night. My distinct thought was, my god how can this evening be so beautiful? It was balmy and clear. I felt like I could reach up and pluck the stars from the sky. I leaned over the rooftop wall and admired the city lights and watched the stream of traffic below. Life was moving on as usual. All seemed right with the world. How could this be? Don’t they realize one of the most extraordinary people in this world had just died? My son Brian was dead.

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I don’t remember the next one to two years clearly. I was just surviving. How does one live with half a heart? Life was like running a marathon when you can’t even breathe. But slowly I felt the nudges and then the outright shoves. It was as if Brian was shaking me awake. Brian loved life and fought for it more fully than anyone I’d ever known.  I had life. Brian would have done anything for life. To waste my life was to disgrace Brian’s memory and all that he loved.

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​And so now I’ve turned to face the dragon again. It’s not just my dragon anymore. It belongs to every patient and family member and friend of a person with Blau Syndrome. It belongs to every physician and researcher that’s taken up the battle. I remember you all and hold you in my heart.  Sometimes I look over at Brian”s picture and think, my god you weren’t just a dream. You really were, you really happened. You made a difference. You mattered. We all matter.