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
UPDATE APRIL 2004
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.