In 1997 I happened upon the Chromosome 18 Registry and Research Society while surfing the net. New to the whole computer thing, I had no idea how I had found the site, but my life has been completely changed and enriched by the find.
I am the mom of four amazing children. My boys are Ashton-19, J.B.-13, and August-10. My daughter, Pauline, was 13 when she died on April 8, 2007. It has taken me the full brunt of these months since her death to say with confidence: I am the mother of four.
Pauline was full of life. She loved her friends, school, being in the junior high praise band at our church…she was a cool kid. But lest you think she was a perfect angel, she had her moments…like the multiple times she was caught pummeling her brothers. Or when she was found to be manipulating the school nurse into giving her chocolate from the private chocolate stash. Or the time she was caught writing something unkind about someone on the back of a bathroom stall! The punishment for that one was for the two of us to repaint the stall. Every time I go into Boyce Elementary school, I use that stall…makes me chuckle remembering.
Pauline was born on March 22, 1994. Two months prior to her birth, I had the first of four amniocentesis’ to determine if the baby I was carrying had a genetic condition causing the significant heart anomalies found two days earlier. The test showed she was a girl and she had Monosomy 18p-. We were flung into a subculture of medicine, terminology, statistics, and uncertainties. On that day, the obstetrician pulled us aside and said we needed to do two things - One, make sure our insurance was in order because this was our million dollar baby - and two, decide whether or not we would stay married. Having a child with special needs is extremely taxing financially, emotionally and spiritually. The divorce rate in the US is around 50%, but adding a child with special needs increases that rate to roughly 80%. Bret and I chose to walk, crawl and run through the journey together and it made the difference as we began to raise our family as a family. Sadly, Bret made the choice to leave our family and pursue his life separate from ours one year after Pauline’s death.
Along with the diagnosis of 18p-, Pauline had multiple congenital heart anomalies (vsd, asd, pulmonary atresia, situs inversus totalis-causing organs to not be in the correct place, etc…), a cleft lip and palate and GI issues. She was expected to be a blue baby no bigger than 3 or 4 pounds. Pauline Wells Burzio entered the world via c-section weighing in at a “petite” 9 pounds and screaming pink. Upon her birth, we learned she had a low set ear nub on her left cheek and an underdeveloped left eye. This added to the cleft lip and palate is known as hemi-facial microsomia. She was immediately intubated and rushed off for further testing in the NICU. It was a full 3 weeks before we were able to hold her in our arms…a short lived but sweet miracle. After two months, multiple major surgeries and procedures, we were able to bring our sweet baby girl home from the hospital. No easy feat…she required oxygen, heart monitors, g-tube feeding equipment for round the clock feeds, a list of medicines, and unknown amounts of treatments and procedures which had to be learned. Did I mention none of us had ever had any medical training!? We willingly accepted the challenge because a gift was laid into our arms and she was worth any effort it took. Ashton, was 4 when Pauline was born. He was an awesome big brother through Pauline’s entire odyssey. As she grew older, she would ask for him instead of us to meet a need. What a sweet thing for a parent to watch her children caring for each other.
Pauline required Early Intervention services between 3 months and 2 ½ years old. These services gave her Physical, Occupational and Speech Therapies as well as education for our family in how to help her grow and interact effectively with her world. The people we met through the EI services became an integral part of our lives, continuing on even after the services ended. They showed us how to care for her and care for our family as a family. They let us ask questions, cry, laugh and showed us the meaning of building a team and working as a unit with the singular goal of helping Pauline be the strongest member of our family and community she could be. This foundation gave her a huge leg up as she entered school based services at 2½ in an Early Childhood Special Education classroom. Her foundations of learning continued to be honed as our family also continued to be cared for as a family. It was understood that Pauline would not move forward without a safety net of support and therefore, we were a full member of the team…assisting with writing IEP’s, attending extra trainings and meetings…whatever it took to keep us moving forward together. We continued with the supportive environment through elementary school into middle school, but it took more effort to keep the focus on the family and not just Pauline. We were blessed with individuals along the way who went out of their way to keep communications flowing and services happening to ensure Pauline would be educated well, with her peers.
Medically, Pauline had many heart and craniofacial surgeries and multiple other procedures. Through it all, Pauline remained a content, “normal” child. Normal is a relative term, so we more readily use “typical”. She did everything her peers did…t-ball, rec-league basketball, softball, soccer, ballet, snowboarding, church youth group and praise band. She was never at a loss for something to do. Everything was in moderation and all depending on her surgery/recovery schedule, but she didn’t care…she just belonged. Our friends and community were a great support through her entire life, and now in her death.
Pauline entered Johns Hopkins Hospital on April 3, 2007 for a planned Fonteyn completion (heart surgery). She did well through the intense surgery, but on April 4, she suffered an unrelated severe brain bleed that ultimately caused her brain to swell and end her life at 4:15pm on Easter Sunday, April 8, 2007. Easter Sunday was fitting for a girl who knew her Creator and loved to worship Him. Pauline was able to be an organ donor and give life to two individuals.
It has been many months since Pauline’s death. Things are just now beginning to sink in that she is really not here, nor will she ever be again. It is an excruciating road crawl. When asked to describe the feeling, the best I can come up with is year one was surreal, year two was like surgery without anesthesia…I keep moving forward towards a hope that remembering will more and more readily bring laughter. Daily reminders still bring laughter and tears hand in hand. Over the years, our Registry family has been a huge part of our circle of support, providing education, research and friendship on this long journey. It has been a privilege for me to serve other families as the 18p- Syndrome Coordinator and now as the Vice President for Member Relations. Serving here has given me the opportunity to use every trial and joy we have been blessed with to turn and encourage someone who comes behind me. And we are beginning a new journey to support families who have lost their children with Chromosome 18 anomalies through the 18 Bereavement Support group. The relationships forged here have given me the opportunity and the courage to address members of Congress, host an international family conference and speak to groups of parents and professionals on the topics of parenting a child with special needs and how to work through early intervention and school based services. The friendships here are priceless…they give me a place to be at home and rest on this journey.
I am not the same person who gave birth to that very pudgy, very sick baby. I am the mom of four amazing kids forever changed, forever grateful.