By Liana Carlan
Six months after my daughter was born, I got a phone call from Children's Hospital. Science has finally advanced to the stage where there was genetic test for Stickler Syndrome. Since I was among the first of many people diagnosed with the disease, would I be interested in being tested? I went and had the test done, pretty confident of the results. I had suffered from Stickler's since I was 12, when it was first diagnosed.
Three months later, the results came back. They were negative.
So many thoughts and emotions rushed through me it was hard to stay still. What did they mean, negative? I went into an odd form of denial. I had this disease. The horrible diagnosis I got when I was 12 had altered the course of my life. It made me decide to sterilize myself for fear of dying or causing a child a painful, scary existence like my own. My life was intertwined with Stickler's for so long - and now I was being told I did not have it? I was pissed. Then I became calm. What was the feeling washing over me? Why didn't I scream or cry or have a mental breakdown? What the hell was going on? Then I realized -- the feeling welling up inside me was relief
My mother remains convinced I have Stickler's, citing the fact that the genetic test has an accuracy rate of 78 percent. That said, I chose to consider myself as someone who does not have Stickler's. To be honest, I don't know exactly what I do have. If I do have Stickler's, it is likely to shorten my life. If I don't, I still have the problems with my hearing, my sight and my back. I don't know what my life span will be, but I'm hoping it is into my 80s! I choose to be the eternal optimist.
I had a crappy life, medically speaking. I couldn't do things other kids could do. My hearing was continuing to deteriorate. I was blind as a bat and had painful and debilitating back problems. I missed out on so many things that most teenagers take for granted. And I was sterilized at age 27.
But that was okay. Even when I thought I had Stickler's, I did not let Stickler's defeat me. I had defined by own life, determined my own fate. And now I was a mother and a wife and alive and functioning well in the world. I didn't have Stickler's and I was grateful for that fact. And that was it. I wasn't going to obsess over it. I was going to appreciate the fact that it was over.
Was I going to sue the hospital? Absolutely not . I felt that they had done everything they possibly could, given what they had to work with. Was I festering with anger? No. I had learned to appreciate every day and every person that I had come into contact with, and let go of the "label." I was who I was.
What about the tubal ligation? How did that make me feel? I accepted it, because I did what I thought a responsible, mature, solid mother would do, in hopes of making the rest of my daughter's life happy and fulfilled with both parents. The ride sucked, but the destination was becoming sweeter and sweeter.
Until I found myself pregnant again. Despite the tubal ligation, said to be effective 97.7 percent of the time in preventing fertilization, I had conceived again. Either my husband has superman sperm, or I truly am the exception to every rule. Given my history, most would bet the latter, though I'm sure my husband would disagree. Unfortunately, I miscarried at five weeks. A year later, I was pregnant again. I was filled with joy. I would love nothing more than to have another child - especially now, knowing that the baby would be okay and that I would survive. This time, I lost the pregnancy at about eight weeks. It is hard to explain how devastating these two losses were to me. After all I had been through in my life, I thought that this was my reward. Seeing an empty uterus on the ultrasound screen and realizing that yet another dream had been taken away crushed my heart into a million pieces.
My hearing continues to worsen. I have tried hearing aids, but came to the conclusion that I'd much rather be in my own little quiet world than deal with adjusting to those awkward little earplugs. I can remember when I first put them on; I was sitting in my mother-in-law's kitchen while my husband was chatting with her. But, all I could do was concentrate on an annoying buzzing sound. It was driving me nuts. Finally, I exclaimed, "What the hell is that?" My husband calmly explained that it was the refrigerator. I told him it must be broken. He then explained that all refrigerators hummed like that. Who knew? I decided that after all I had been through, hearing little things like the humming of a refrigerator and waiting patiently for my brain to eventually ignore these sounds was not something I was willing to wait around for. I put the hearing aids in a drawer and haven't worn them since. Oh well, I tried.
My daughter, who is now seven, will sometimes ask me questions about my childhood. She is still young, so it is difficult to explain many of my experiences to her. As my husband will tell you, I am not good at disciplining our daughter. Some might suggest that it's because I'm psychologically damaged from my own childhood, when I was never able to do as I pleased. I disagree. I believe it is because I find every thing she does fascinating. I drink up her every word, her every breath. I cherish every moment I spend with her, and feel blessed that she was given to me. She truly is my precious gift from God.
Every parent secretly wants to have the perfect child. I was not that child. God had other plans for me. At times, I'm still not sure what those plans are, but I believe that writing about my journey will help my discover them. It has been hard for me condense my life experiences into four short essays because there is more I want to share, including some truly inspirational people I have been blessed to meet, places that helped me heal, and situations that helped me to put life into perspective.
At age 33, I have come to realize that everything happens for a reason. I believe that I was chosen to endure these challenges to help others look at their lives with a different perspective. People are stronger than they give themselves credit for. Some find it easier to succumb to difficult situations than to overcome them or rise above them. They remain prisoners in a cell of their own making. I chose not to do that. I emerged from my experience with optimism and hope and the belief that once you put your mind to it, you can do anything.
I look at my life as a fortunate one. Along the way, I must have asked "why me?" thousands of times. I may have placed the blame on my parents, on my ancestors, or simply on myself. Sometimes pity parties came more frequently that birthday parties. Once, I even questioned whether I had been cursed - I went to a psychic who, for $30, convinced me otherwise.
I have felt anger, sorrow, defeat, exasperation, depression, and guilt. I have experienced unimaginable frustration and intense physical pain. Despite all of this, I have made my life's journey - on my own terms, in my own determined way. Which brings me to the most awesome part of this tale: I survived.
Liana Carlan lives with her husband and daughter in Chestnut Hill.
For more information about Stickler Syndrome visit the Stickler Involved People website.
Flag Photo: Shawn and Liana during her first pregnancy.
Text Photo: Shanna Carlan at age 3