My name is Natalie, and after many years of infertility, I went through a divorce, my house got foreclosed, and I decided to go to Europe for in-vitro fertilization to try an egg-donor cycle by myself. My father came with me for the “vacation.” 🙂 I was only going to attempt IVF once, for closure, and it turned out I was pregnant with twins, a boy and a girl… PERFECT!! I named them Emmett and Emmerie.
But my perfect world did not last long. After their first birthday, I found out that both twins have Joubert Syndrome. Joubert Syndrome is a rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.
Since they were four months old, I’ve known something was seriously wrong, especially with Emmett. He had multiple MRI’s, and doctors found an extremely large arachnoid cyst in his brain. As time passed, I had friends tell me that I needed to “work more” with my babies, since they couldn’t do much at all. I was starting to feel like it was my fault of their developmental delays.
We did an MRI on Emmerie to see if anything was going on in her brain because of the size of her head measurement. Nothing was detected at that time. Finally, on Emmett’s third and last MRI before surgery, the neurologist found the “molar tooth sign” in both of their MRI images. Molar tooth sign is the result of cerebellar vermis hypoplasia, thick and maloriented superior cerebellar peduncles, and an abnormally deep interpeduncular fossa. In Joubert Syndrome, this is seen in about 85% of patients.
Today, we are working very hard at physical, speech, and occupational therapies. Emmett had a VP (ventricular-peritoneal) shunt placed for his brain-cyst in November. Emmerie has been wearing a helmet for her brachycephaly (flat-head syndrome) as well, which should be resolved soon!
Emmett has fought nine ear infections within the past four months, so he is getting T-tubes placed into his ears. Since he isn’t even sitting up yet, they believe the hearing loss in his right ear has been causing decreased balance, so I’m excited to see his progression after he gets tubes.
It’s hard being a single Mommy of special needs twins, I’m sure it’s even hard with just one special needs baby. I pray that each and every one of you who are fighting rare and genetic conditions have your prayers answered.