Mosaic Trisomy 16
Eighteen weeks into my second pregnancy, my obstetrician called and suggested I meet with a geneticist the next day. Clearly, something major was wrong with the pregnancy. I had had an abnormal AFP and was awaiting amnio results at the time of the call. But silly me, for once I wasn't worried because I had also had an abnormal AFP with my son which turned out to be a false positive. I assumed such was the case with this AFP. Boy, was I wrong. The Tuesday after Thanksgiving, 1995, my husband and I sat down with a genetic counselor to find out what in the world mosaic trisomy 16 was and what in the world it meant for our baby. I remember that meeting so clearly. All I wanted to know was if it was a boy or a girl and no one would tell me. (Did they think it might somehow make my pain worse if I personalized the pregnancy too much?) Anyhow, I'm a pretty easy-going person, but I refused to continue until they told me the sex. A girl. For a moment, I felt at peace. Then the genetic counselor began to talk.
Beth is wonderful, a great support to our family. But that first day in her office, how I hated her. It was so easy for her to sit there and talk clinically about trisomies and mosaicism and chromosomes and all that other stuff, but it was something else to be sitting on the other side of the table with my little girl kicking away and me hearing such bleak news. At the time, there were only a handful of cases reported (ha! there still is!) and based on those articles, her prognosis was not good. Beth discussed our options, including termination. We had an ultrasound two days later and I swear she waved at us. That was it. Any talk of terminating the pregnancy ended with that wave.
Two and 1/2 years later, it's easy to look back at the remainder of my pregnancy and blot out the awfulness of it. But it was--absolutely awful. Shayna wasn't growing well, and even if she survived in utero full term, the doctors kept reminding me that it was quite possible that she would die shortly after birth or be terribly handicapped. I know some of them thought I was in denial. I wasn't. I just kept feeling her kicking . Each kick told me "I'm here, Mom. Don't lose faith." So I didn't, at least not much.
Shayna Marissa was born on Valentine's Day, 1996, after 29 weeks of pregnancy. She weighed a whopping 1 lb. 10 ounces, but it was evident from her first breathe that she had a good set of lungs. Two days on a respirator and she was breathing on her own. For the first twenty-four hours, I was too scared to believe that she would actually survive. (Those doctors had done a pretty good job convincing me that she wouldn't, after all.) Gradually, I let my guard down and rejoiced in my beautiful, albeit tiny, baby.
After 13 weeks in the neonatal intensive care unit, Shayna came home. She had an ASD repair at 8 months to help her grow (it didn't), but other than that, she's doing great. That's not to say that the past two years haven't been a roller-coaster. One day she's just like every other kid, the next she does something that reminds me that she isn't just your typical two year old. Last fall she had a few seizures, this past spring she needed an MRI to rule out a brain abnormality. Our newest challenge is an as-of-yet undefined autoimmune disorder. She has OT, PT, and speech therapy weekly, but she's amazingly close to reaching her developmental milestones on time. And cognitively, she's right on target.
My daughter has overcome more obstacles than most people have to in a life time, but through it all, she's been nothing short of a trouper. And to me, she is nothing short of a miracle.
UPDATE APRIL 2002 (first picture) and April 2004 (second picture and text)
I cannot believe how long it has been since I have updated Shayna's story. So many wonderful things have happened in the 8 years since she was born. Shayna is now in second grade. She reads at the 4th grade level. Her math skills are pretty much grade level, but in every other subject, she is above average. This to me is amazing, considering all the doctors who told me that she would most definitely be mentally retarded or at least have some kind of developmental delay.
Shayna is in every way a typical 8-year-old little girl. She loves gymnastics and hip-hop. She just performed in the school talent show. She adores her big brother, when they are not fighting. Basically, her story has gone from a very dramatic one to a pretty boring one and we love it! She still gets OT and speech in school, but both will be stopped next year.
She knows that she has mt16, although she doesn't know what it means. But she hears me talking about it in regards to the foundation, so we've touched on it a little. Right now she thinks that's pretty cool because it makes her "special." She is very feisty and stubborn, but I respect that because without these qualities, I'm not sure she would have survived those terrible early times.
I hope Shayna's story provides hope for those of you newly diagnosed or going through the tough early infancy stages. It does get better! I thought I would never see the light at the end of the tunnel, and now it is almost like a bad dream. Now we are living the most amazing dream ever—a happy, healthy, "average" life with our most precious little girl.
UPDATE June 2011
Shayna is now almost 16 years old and she is doing better then we ever dreamed possible. The first five years were hard. Shayna was slow to reach milestones so we had her in both public and private PT, OT, and Speech. Once she turned five, she started to catch up to her peers and we could finally stop holding our breath, waiting for the other shoe to drop. Shayna remained tiny for some time, but once she reached puberty (at 13) she started growing and is now about 5' 4". Most importantly, she is incredibly bright. Just finished her Freshman year with a 3.0 gpa. Pretty darn good for the girl every doctor wrote off before she was even born. Shayna did get extra help for math up until fifth grade. She did reasonably well throughout middle school. Something must have happened to her synapses the summer after 8th grade because she went from being an average student to being an excellent one. She took all college prep classes last year and hopes to go to Northwestern like her mom. Shayna is athletic, healthy, and very much a typical teenager. She is currently taking drivers ed. Yikes! I am still disgusted by all the false information doctors threw at us the minute she was diagnosed with mosaic trisomy 16. Gives me shivers when I think about what the world would be missing if I gave in to the pressure to terminate. Shayna is a leader and I'm positive she is here for a reason. Now to borrow a line from Cameron's mom, we too can finally say that every single worry is a thing of the past; we are now in a position that we never dreamed possible during those awful first few weeks, months, and years. We are now in the position to just sit back and watch in amazement as Shayna continues to prove those doctors wrong.
Not only did our daughter Shayna, the allegedly "unable to survive or will be extremely handicapped creature" prove her doctors 100% wrong in all ways by getting a 25 on her ACT, graduating with a 3.2 GPA AND getting accepted by an extremely selective private college that only accepts 400 kids from all over the world, but on top of all this, they gave her a $20,000 Gates Leadership Scholarship. We are convinced her essay plus her interview where she focused a lot on her being a born leader (hah! Biggest understatement ever considering she came out screaming her micropreemie lungs out, but the feistiness that she needed to survive has only grown stronger the older she gets) helped her secure this amazing award. Anyhow, this scholarship is a huge deal because she walks onto campus this fall marked as one of the very few freshman leaders. The school will help her develop her leadership skills so that hopefully she will be inducted into Omicron Delta Kappa, the National Leadership Honor Society, which will look awesome on her resume and give her a network of other members, including Hillary Clinton, the older president Bush, and somehow Margaret Thatcher! I'm sobbing as I write because, given the ridiculously gloom and doom attitude of the doctors, an extremely rough infancy and reaching all her milestones late, etc., Wayne and I weren't sure she would survive to 18, let alone receive such a prestigious scholarship. How I long to tell each of you that your child will follow Shayna's positive path! I can guarantee that there will be many more such success stories in the years to come.
I'm also crying because as I write this, the song "Wonder" by Natalie Merchant came on. If you aren't familiar with the song, find it and its lyrics as soon as you finish reading this. It is the Foundation's theme song because all of our babies are truly wonders and, in Natalie's words, "will make their way with love, patience, and faith."
Huge hugs and prayers for your wonders,
Founder of DOC16, but most importantly Shayna and her older brother, Tyler's, mom
A story that is a huge part of my identity is my past challenges growing up. Being born at 1 pound and 10 ounces was enough of a struggle for my parents, but I was also a micro-preemie due to being 3 months early. When I was born, the doctors found out that I had a small genetic disorder called Mosaic Trisomy 16 which is a type of genetic disorder when an extra chromosome 16 is present in some, but not all, of the cells of the affected individual's body. It caused my heart to be under developed and I had to get open-heart surgery at 6 months old.
It took me longer to reach milestones such as walking, talking, sitting up compared to average children. Having these struggles early in life made me have to be in many physical therapy sessions. I had to be in speech and had to be in occupational therapy. I also saw many doctors and specialists. Another struggle I had to face was ever since I can remember, I have gotten extreme pain in my feet and sometimes hands that feels like a headache that does not go away on it's own. Over the years I have seen all kinds of Podiatrists, Rheumatologists and medical doctors that never found the cause of my pain.
Also because of my disorder, I have a slight learning disability in math. For many years I was placed in special education math classes. In 5th grade I was transferred to a regular math course because I worked hard at trying to improve on my math skills, where I even surpassed other students. Since then, I have excelled in math courses ranging in mid B's to low A's. I am currently in a regular Algebra 2 class. I have overcome my disability and now am in all college prep classes and have all A's and my genetic disorder has disappeared.
I am one of around 100 kids that have had this genetic disorder, and because of the rarity, my Mom set up a Mosaic Trisomy 16 foundation to help get funds for better research equipment and to find a cure. Soon I will become president of the foundation. Without my cause and my Mother's actions, many newborn babies would have been terminated because the doctors say that the baby will not survive. I am living proof that babies do survive and fight to succeed. Lake Forest will help me excel even more in my education, commitment to helping and inspiring others and give me an even bigger passion for leaming. Go Foresters!
19 years after being told my baby girl would either die in utero or be severely mentally handicapped, I am beyond proud to say that Shayna finished her freshman year at a small, competitive college with a 3.4 GPA! Even more amazing, she was named a Richter Scholar, which allowed her to do real research with a psychology professor (her major) on abused women for 4 weeks this summer. Due to her hard work, the college offered her an additional scholarship for next year!
From the above, you might think Shayna spent all her time studying. Nope. She found time to join clubs and was an active member of Alpha Pi Omega, a service-oriented joint fraternity/sorority. She also led an active social life. Boy, did she prove those doctors wrong!
Shayna is eagerly awaiting her sophomore year. She will be living with 5 of her best friends and will officially declare her major. On top of majoring in Psychology, she also plans on minoring in both History and American Studies. Not bad for a 1½ pounder who spent 3 months in the NICU!