Birthday

So today is my 31st birthday, which is lovely, of course.

The last year has been sort of amazing/crazy/bizarre. Exactly one year ago today marked the escalation of Esmé’s seizures from something that was troubling to something that was completely and regularly petrifying. On August 8th of last year she was admitted to our local hospital for reoccurring seizures that would not respond to our emergency medications. Over and over and over she turned blue and shook. And as awful as this was, what made it worse was that it became very clear at that time that we did not have an adequate safety net or support system for her. Her seizures came every 2-4 hours for 36 hours and even in the hospital all we could do was watch and hope they would not get worse.

For a number of reasons it was that hospital stay that turned me from a dedicated (and loud) mother advocate to a dragon mother: a force willing to do whatever it takes to keep my child safe, no matter what.

So when the clusters started again a week later we brought her 3 hours to our children’s hospital–where we connected with another one of our exceptional doctor who would light our way forward…to “proving” seizures (which anyone who was paying any attention at all already knew….but the EEG had yet to “prove”), to eventually getting us on a drug that did something for Ezzy, to finding the mutation that was causing the seizures…She became yet another doctor who makes my blood pressure drop just by her presence in a room and she solidified my sense that Ezzy does not have to settle for doctors, she can and will have the absolute best–doctors who listen and care and respond and who are shockingly smart.

In the months that followed Ezzy would have an average of 14 clear seizures a week. They would typically all come in a 24 hour period–leaving us exhausted and frightened. At the time we had almost no night-time help and would sleep with her in bed with one of us holding vigil and the other catching a few winks in the guest room. In November we finally got her stabilized with Clobazam and her clear seizures diminished to a cluster once every month, then once every two months, now even stretching to three months. She continues to have what we suspect is “seizure activity” and small seizures regularly…sometimes 50 times in a day. But they do not interfere with her activities, for the most part, so it is a win.

In December we received a diagnosis of PCDH19 Femal Limited Epilepsy (FLE). The picture only came into focus over time, however, as the gene where we found Esmé’s mutation (PCDH19) has only been found to be mutated in approximately 100 girls and, as is the case for many of them, her exact mutation has never been found in another girl. But as we have gotten to know the community of these girls and their families Esmé’s seizures, personality, and appearance fits the presentation of the other girls. Her tone, however, is still a question mark…one we don’t necessarily expect an answer for. She may be an extreme presentation of hypotonia in PCDH19 FLE or she may have another disorder…or some combination thereof.

With the seizures better under control, we faced another challenge: repeated infections. Esmé spent the better part of November-May on antibiotics for one thing or another and in the hospital multiple times for infections that required observation and IV antibiotics. Her persistent illness finally brought us to repair her nissen fundoplication that had badly herniated almost immediately after her initial surgery in May 2011. We had resisted surgery to give her time to get stronger and bigger, but we finally went forward. Our AMAZING surgeon was able to do the procedure relatively un-invasively and we have seen great improvements in tolerating food and growth since the surgery.

So no doubt it was a whirlwind of a year from a health perspective…but, as I said, I feel like I have truly come into my own as Esmé’s mother/advocate through these trials. A giant part of this is has been this blog and the foundation it has led to…as I have become active in the PCDH19 community and as I have raised money for research (over $27,000 in about three months!!) I am feel increasingly confident. I feel confident as Esmé’s parent because, lets be frank, I know more about her/her disorder than 99.9% of the medical community…it’s not a judgement, it just is. And that confidence has brought us to a team of doctors who are willing to acknowledge the limits of their knowledge–and willing to engage because Esmé challenges those limits in an exciting way! I am also more confident professionally. I feel as thought I am doing something that I am good at–which everyone should be lucky enough to experience. But on top of that I am good at doing something that I feel is a genuine force for good in the world–for my child and for other girls like her…

Before this I never saw how the relatively cerebral and self-gratifying skill set I had developed in the process of my over-education: graphics, writing, marketing, persuasion, etc…would be of much good in the world, other than generally making me happy. I never imagined that the hap-hazard false-starting set of experiences I gathered in architecture school, work in fashion, graphic, and web design, and degrees in communication and rhetoric would combine to give me, and more importantly, Esmé, a voice in the world.

And so it goes.

I had set a goal for weight-loss this year and a giant “30th the sequel” birthday party. I have lost weight (15 lbs and counting) and gotten stronger all round…and instead of a birthday party, I am helping to plan a private fundraiser that I hope will yield most of the rest of the money that we need for our PCDH19 grant this fall. I think it is, all in all, a good trade!

I feel happier in my skin than ever. I feel as though I have surrounded myself with people who care and are supportive of me, Ezzy, our family, and The Cute Syndrome. Most importantly, Esmé is her happy self, growing and changing and laughing every day. She reminds my hubby and me what is best in life: love.

I am 31 today. And, I couldn’t be happier.