On July 4, 2007, I gave birth to a beautiful baby girl. Her name is Chloe and she has changed our lives forever. At the time of her birth though, her name was Baby Girl Eugenio for about 2 days because I am the Queen of Indecisive!
Chloe was born with a rare genetic disorder know as Chromosome 6Q Deletion Syndrome (so rare, it doesn’t even have a fancy name!). It basically means that the end of her Chromosome 6 is missing. Any time there is a genetic rearrangement; there can be serious issues.
I remember sitting in the genetics doctor’s office when she was about 4 days old and what appeared to be a 12-year-old girl with zero personality reading a list of potential complications to us. I am sure she was actually older and a trained geneticist but she was not the best choice to deliver this news to us. She read the list in a droning, monotone voice as if she were talking about a list of cereals rather than potential complications for my baby. On and on, “microcephaly, kidney defects, heart defects, eye defects, developmental delay, possible mental retardation, scoliosis, seizures, feeding issues, low muscle tone, craniofacial abnormalities, etc.” I tuned her out and thought about how much I wanted to punch her. So, we had heard from the get go that scoliosis was a possibility but with a list that long, what do you focus on?
Chloe’s curve was apparent from the start. She had trouble breastfeeding and the lactation consultant pointed it out. Her PT pointed it out, her OT pointed it out, my sister the nurse pointed it out, my father in law noticed it, the craniosacral therapist noticed it, the lady at the grocery store pointed it out (not really but you get the point). I forget who else but there were others. We took her to a renowned, highly respected orthopedic surgeon at six months who did an x-ray and told me to come back in a year because her spine was fine but he would keep an eye on it. Now, if this were a child who had no other issues, I may have pushed harder but it was frankly a relief to scratch a doctor and more appointments off the list for a while.
At this point she had a neurosurgeon, a cardiologist, an ophthalmologist, a pediatrician, physical therapist, speech therapist (for feeding, no one was expecting her to talk at 6 months!), occupational therapist, vision therapist, she was wearing a helmet for plagiocephaly and our weeks were full of appointments.
If I had known then, what I know now, I would have taken her right to Shriners! I would have missed some therapy appointments or some sleep or done something to make this scoliosis a priority.
Fast forward to a follow up with her neurosurgeon at 13 months. She had surgery to remove the back of her abnormally shaped C1 (top vertebrae) when she was 4 months old and he was checking on it. He did another spine x-ray pointed out how much her curve had progressed. He sent us back to the orthopedic surgeon who ordered a brace and told us to work up to 8 hours a day. Again, hindsight is 20/20 but a baby with Progressive Infantile Scoliosis cannot be treated with an 8 hour a day brace. Even if we had opted not to go the casting route, she should have been in brace 23 hours a day.
Finally, her physical therapist suggested Shriners. She had worked with Dr. Sturm who was Chief of surgery at the time and had started casting children with infantile scoliosis with success. I wasn’t sure what to do. I had heard of Shriners but didn’t really know anything about it. I started doing online research and found a website with stories about children with Infantile Scoliosis. I saw that some had been treated at Shriners and had gotten correction and I felt like it was the right thing to do.
Chloe had her first appointment at Shriners in early March 2009. Dr. Sturm said she was a candidate for casting. Her curve was about 50 degrees at this point. He cautioned us that due to her genetic condition causing neuromuscular imbalance that she might be harder to get correction with. We understood that but really had no other options so went ahead with it and she received her first cast on March 16, 2009.
The doctor and his lovely nurse, Linda came out after the cast was applied and said Chloe was down to under 10 degrees in the cast. We were very excited. What was not so exciting was my sad, mad, confused 20 month old baby who woke up from anethsesia with this 4 lb cast on. She just cried and wanted to be held the rest of the day. I had a 3.5 month at home so it was a rough one when we got home. She adjusted eventually and learned to do everything in cast she could do out. Being delayed, she hadn’t walked yet but she learned to walk in the cast. She learned to climb. She learned to jump. All while having a chance to be straighter thanks to the cast.
Unfortunately, Chloe has not achieved any correction in the cast. She wore 13 casts over almost 3 years and in November of 2011, we took a break to address some other issues that couldn’t be treated while in the cast. She has been wearing a brace and her curve is getting worse.
We are faced with the decision of going back into the cast after summer or keeping the brace on and face surgery sooner due to the curve’s progression. Either way, she will need surgery and she will most likely not be able to hold out for a final fusion at 12 or 13 but have to have major, invasive, complicated growing rod placement surgery. For MANY kiddos, the cast prevents this surgery from being a reality and we love that it works. We would have loved it to work for Chloe but it just didn’t. we believe it held her for 3 years and allowed her to grow and learn to move without being all hunched over. Her curve is about 70 degrees now.
We think we will do the cast in the fall and buy some more time. In the meantime, we are SO excited to have a summer of water fun. We had 3 summers in cast and now will emjoy the lake, the pool, fountains, sprinklers, sand, summer fun! Our family needs it. We would not do it any differently and believe that casting was the right choice for us but it’s nice to just enjoy a summer. My 3.5 year old son needs it. He hasn’t gotten to swim much because his sister couldn’t. I need it. My husband needs it. The downside is that I forgot how much I liked having an excuse for not having to put on a bathing suit. But you know what? I’ll suck it up (and in) to be able to watch Chloe splash around the pool and play in sand and water any day.
Our hope is that someone’s child will be helped due to all the wonderful stories written during Scoliosis Awareness month. And that the message continues to be spread all year. We would like to thank the amazing staff at Shriners hospital and the awesome guys who made Chloe’s brace. I also want to thank and commend the Lucky Cast Club for their tireless work on behalf of children with Infantile Scoliosis and their families. Getting this diagnosis can be scary and hard and these women have made this process easier for hundreds of families. From information to hand holding to calling Shriners on behalf of scared, confused parents, to getting car seats donated that are suitable for kids in a cast, to pajama donations, to dvd players to occupy the kids on long ass cast days to just plain LOVE. Thank you!