Monday, June 6, 2011

Evan's Story

This account is from Perla, a mom of another sweet boy with PWS. I read this on Facebook today and was really touched, as I can obviously relate to a lot of it. There's something weird about reading an account from another PWS parent. It reminds you that you are not alone, that this syndrome IS real, and that you're not crazy for feeling all the things you do about it and how it affects your child. Hope you are touched by their story, too...


Our Prader-Willi Syndrome story began that fateful day the neonatologist walked into my room. I was alone having just returned from visiting our newborn son in the NICU. Dave had just stepped out for some fresh air. Dr. Sison sat down and calmly and tonelessly starts to ask away. How old was I? Did I smoke, drink or do drugs during my pregnancy? Are my husband and I related? He wanted to know.

Besides being an MD he must have also been a hypnotist or some high level Taoist kung fu master because he seemed to have total control of my demeanor. My answers were equally calm and brief showing no sign of my normally expressive and dramatic personality. After interviewing me his only answer was that our son, not yet 24 hours old, not yet named was not responding like a full-term baby and that they would be running lots of tests.

I didn't break down until I relayed the information to my husband. We couldn't understand how any of this could be. We were young and healthy. Both the pregnancy and delivery were smooth and uneventful. And we already had one very healthy and bright little boy. We thought that our son had been admitted to the NICU for hypoglycemia since he didn't take in any of his first feeding, something which was simple and innocent enough to let us sleep that first night.

It wasn't until two endlessly long days later that we realized how wrong we were. The neurologist had finally arrived to tell us just how "floppy" our son was. He said the list of possible diagnoses went from the floor to the ceiling. But most crushing of all was what he couldn't tell us. He couldn't tell us if our son would walk, or talk or ever smile at us. I wanted to scream, I wanted to erupt, I wanted to die. And after several minutes of doing the first two, just outside the walls of the NICU, I wanted to fly home. For the first and last time since, I wanted to run away from the nightmare we were living.

The only good thing that came out of that day was that we had chosen a perfect name for him. Not knowing if he would have learning disabilities or not I wanted an easy, cute name for him. I chose Evan because besides meeting said criteria, in Celtic it means "young warrior". And that's exactly what I wanted him to be. I wanted him to fight like hell for all the hopes and dreams we had for him. Given the extreme circumstance my husband went along with anything I decided on. I could have named him Lord Farquaad or anything else from that movie franchise and it just might have stuck. Whatever the case, I'm so happy we got to name him hours before our crushing meeting with the neurologist.

From then on it was a painfully slow waiting game. After a few days we lost hope that Evan had some curable form of a serious infection. We actually had a list of illnesses we were hoping for. But finally three weeks later we had our answer and even before it was delivered, I knew. I knew what he'd been tested for and having done a little research I knew that's what it would be.

The answer could have come in either that Friday or Monday but on Friday my gut told me they were ready. I normally headed to the hospital to visit Evan as soon as my eyes opened and while everyone was still asleep, around five AM. Not that day. I showered, dressed a little nicer and...stalled. I made it in mid-morning and was sitting in the rocking chair cradling Evan when the attending came up with the answer written all over her face. She didn't say a word, I said them for her. She looked as sad as I did, something I appreciate immensely. We took Evan out of the NICU and into the family room to talk.

Exactly one week later we got to bring our sweet, sleepy, angel home. I wasted no time in taking him out (unlike the first time when I hibernated for three months). I needed to forget about the hospital and recover from our loss. I was desperate to enjoy every second with my new family. Andres was an amazing big brother from the start and I relished that. A few weeks, or maybe a few months later I came back down to reality. I started the process to start therapy, Growth Hormone, etc. and I haven't stopped since and probably never will.

Evan grew out of his sleepiness and became engaged and then very interactive. He met many milestones just a few months behind, except for crawling and walking. And now he's changing again from being simply interactive to being VERY opinionated. In most ways he is just like a any "typical" toddler.

But I'm starting to see some changes that scare the beJesus out of me and I find myself wishing that his second birthday wasn't around the corner. Wishing he could stay in this blissful stage of this crazy syndrome. Stay free from it's grasps. Sometimes I'm even naive enough to think that he will be spared. That he's smart enough, and somehow an exception. Isn't that what everyone says to me, close friends, Tot Lot friends? Maybe "he won't have any of that" they say. And "He's going to be fine, he's doing great".

Yes, there are varying degrees. But alas, I've not known of a single child that is completely spared. Even the most "functional" kids struggle, every single day, multiple times a day.

So, I guess I have no choice but to enjoy this precious time to the fullest, however much is left. And keep on doing what we have been, take it day by day and arm ourselves with as many helpful tips and tools as possible. Oh, and advocate for research. :)

Approximately one child is born with Prader-Willi Syndrome (PWS) every day in the United States. On July 6, 2009 in Englewood, NJ our son Evan Daniel Acosta was that child. Do we accept this diagnosis? Sort of. We accept that his having PWS means many difficult challenges ahead which we will take on with unwavering love and dedication. Do we accept that his future will always be marked by the many, many challenges? No. We wholeheartedly believe that someday, hopefully soon, there will be a cure for PWS.

We pray for a cure for the whole damn thing, a cure for the skin picking, the behavioral and social issues, the low muscle tone, scoliosis, thick saliva that leads to poor dental health, all of it. But if gene therapy doesn't advance enough within his life time to cure PWS in its entirety then we will do whatever we can to help researchers find a treatment for its greatest challenge: never ending, unrelenting, disruptive, indiscriminate and merciless hunger.

Thank you for reading and caring.


Kevin said...

Sounds familiar, which is why you posted it. The fear of the expected seems to be the major theme. In all of this she decides to enjoy what she can today, living from one day to the next.

Colleen said...

Thank you for sharing Evan's Story. It gives us the opportuinty to share in another mother's life with her children. Her struggles and Evan's struggles. My words are not coming out very well tonight, but I am glad you posted this!!!