What makes October special? It's not our wedding anniversary, it's not when we met, it's not Cata's birthday, it's not when baby #2 is due...but it is a month dedicated to raising awareness. It's Rett Syndrome Awareness month. This is a month dedicated to our special silent angel, Catalina. A month in which we want to tell everyone we know about this sad disease which has picked Catalina to be the 1 in 10-20,ooo girls affected. It is a month in which we want to work hard towards helping researchers find a cure through private funding and in convincing the government that it is as important as other rare diseases and deserves NIH $$. Here's an interesting table highlighting this need (copied from http://www.rsrt.org/about-Rett/current-funding.html):
So here is a summary of our journey so far:Cata was born beautiful and healthy on 12/5/06. She spent a few hours in the NICU for observation because of mom's fever, but was soon back in our arms. She was a precious little bundle. She loved drinking milk, gained weight like no other (made it off the growth chart!), and was just such a happy baby. Everything seemed to be great and she was developing as expected. Around 9 months she was not crawling and I started to keep a closer eye on her milestones. She was just so content to be in one place. Then at a year she was still not walking or even crawling for that matter (only an army crawl). She also was not pointing or waving. Otherwise development seemed fairly normal though. She was learning new words, interacting, smiling, eating well.
We went to Chile when she was 13 months and on the way there she picked up a stomach bug so she spent the week in Chile sick. When we returned and she got better, we noticed she was no longer using the words she had learned. She was not speaking at all. This was when my searching began. What could cause a speech regression. It seemed to be isolated although of course she did have the developmental delays to go along with it. Time went by and she seemed to get further behind in milestones.
At our 15 month pediatrician visit, I raised my concerns and she reassured me that speech regression can be totally normal, especially when being raised bilingual. I somehow reassured myself that things were okay although I knew they weren't. Over the next month or 2 I decided to call Early Intervention (EI) to have Catalina evaluated. She was now crawling, but still not walking. She was still using no verbal and really no nonverbal communication. Her receptive language seemed to be lagging. Despite all of this, she remained our happy, adorable Catalina.
We made the decision to switch pediatricians (aided by the fact that our insurance changed) which was a blessing. Our new pediatrician instantly recognized that "something isn't right". Now at 19 months she was still not walking and really had not advanced from 15 months. I asked our Dr. if her hand movements could be hand wringing, maybe early Rett? She reassured me that what Catalina had at the moment was not hand wringing (and it really wasn't, and still isn't, maybe just very early stereotypic hand movements). She scheduled an audiology appointment to check Cata's hearing, an MRI of the brain and spine to look for pathology to explain the low tone and delayed gross motor, and a referral to neurology. Audiology checked out fine, MRI was fine, basic labs were fine. While waiting for the neuro appt, we had our EI evaluation. They evaluators informally confirmed that Cata was globally very delayed and would qualify for services. The formal evaluation arrived in the next couple of weeks and stated that Catalina was functioning at about 8-9 month level in all developmental areas. She was about 10 months behind.
As a family we made the decision that I would take time off work to dedicate as much time and resources to Cata and her development. Somehow, overnight Cata developed strabismus (one eye turned in when she was focusing). Of course I assume the worst case scenario (retinoblastoma) and made Kevin bring her to the hospital so I could check her red reflexes. She had them, but I was still not reassured. We got an appt with the ophthalmologist the following week. Fortunately, it was not retinoblastoma but just run of the mill strabismus requiring glasses.
Soon after we went to see neuro. The neurologist confirmed her very low tone, speech regression, and global delays. He wanted to look for several serious diseases first, and if those came back normal then we would look for more. We started off looking for Landau-Kleffner (seizure disorder with speech regression), Fragile X (most common inherited form of mental retardation), Rett Syndrome (noninherited debilitating neurodevelopmental disorder), and a metabolic screen looking for rare metabolic disorders. The EEG (f0r Landau-Kleffner) was normal and the metabolic screen was normal.
My last day of work finished at 9am on 8/25. We said goodbye to our wonderful and caring nanny, and I jumped into full time mommy mode. Cata and I had a great time. With just one week of me being home, things seemed to be improving. I was of course more relaxed and normal now that I wasn't working 80 hrs a week and Cata seemed to advance. She walked independently on 8/26, she seemed to intermittently say words like "ball", "daddy", something that imitated "thank you", she was feeding herself if I put the food on the spoon/fork. Kevin and I were reassured. Maybe she would catch up.
September 3rd while Cata was taking her afternoon nap our neurologist called. He started off by saying he had received results of her test. I was instantly reassured - we always learn you never give bad news over the phone, so this must mean everything was normal. Wrong. He stumbled and hesitated, but was able to tell me that the MECP2 mutation was positive. He read the genetic report to me, telling me her mutation, that it was a truncating lesion, that it was definitely disease causing. I was floored. My head was spinning. Our world as we knew it was shattered. Maybe her phenotype will be mild, maybe she'll have favorable x-chromosome inactivation, maybe there was an error at the Baylor lab. But no, she does have Rett Syndrome. She does have the symptoms. She does meet the criteria.
Now almost 8 weeks later we have mostly come to terms with this diagnosis. There are still moments of denial, of hope for a mild phenotype, of hope for a cure before she lives too long in her suffering. She is still the same smiling happy angel she was on Sept 2nd, before we knew a diagnosis. She continues to walk independently, even trying to run sometimes. She continues to use her hands to feed herself, to pull off a sweater or jacket, to play with toys and read her books. She doesn't say words but continues to babble, some days more than others. She is still the sweetest little girl we could ask for. She strokes my hair at night when I am snuggling with her before bed, she gives me nose rub kisses if I ask her for one, she smiles a huge smile if I glance back at her through the rearview mirror (when stopped of course).
The hardest part of this disease is the suffering for her. I really feel she recognizes her limitations. She cries out of frustration if she trips while walking. At school she gets sad with tears running down her face but not crying during playground time because she cannot keep up with the other kids her size. She gets sad and sheds tears if there is something she really wants but cannot express it to us. She is full of love and joy but is trapped.
So this is our journey so far. We hope it's a journey that will one day be changed by a cure. We hope researchers around the world can put all of your generous donations to good use to find a cure for our little Catalina and the thousands of other girls suffering from this disease. The love and support we have received from all of our friends and family has been an amazing inspiration to us. We will keep fighting this battle. We will dedicate whatever it takes to allow Catalina to flourish in ways she can. We will keep dreaming of a day that Catalina will be free of this disease. To help those scientists who are working endlessly to make this happen, please visit http://www.rsrt.org/donors/ways-to-donate.html.
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