I was told I had the pregnancy that every woman dreams of. But at my 38 week check-up, the midwives were concerned about my baby’s vitals. They ordered an ultrasound and discovered she was very small. I was induced that evening in case she wasn’t thriving in the womb. After a day of labor, Hazel was born 4lbs 9oz and was 17 inches long. She spent her first few hours in the NICU to make sure she was thriving, and then we got to see our tiny little girl again. She had a head full of thick black hair. She was beautiful.
However, while trying to feed her the following day, she turned dusky and was whisked to the NICU. We found out that she was silently aspirating. The doctor thought she had Prader-Willi Syndrome due to some of her features. She stayed a week at one NICU before being sent to a more specialized research hospital. The geneticist there was an expert in Prader-Willi, and told us he did not think she had it. He did, however, think she had some sort of genetic syndrome. The NICU experience was a very frustrating time for us because we were waiting on the doctors to figure out how to keep Hazel from aspirating (she failed two swallow studies). We wanted to know what Hazel’s diagnosis was, but also were in denial that she wasn’t just merely too small. We needed figure out how to safely feed her at home. At almost one month of age, she had a G-tube placed. We were finally able to go home!
During this time we kept searching for a diagnosis. She was tested for Prader-Willi and had a microarray screening. We saw a neurologist, endocrinologist, cardiologist, geneticists, dietitian, and a pediatric surgeon. All tests kept coming back normal, which was both a relief and a puzzle. When she came home, her G-tube leaked excessively, causing her to not get enough nutrition, and her stomach acid burned the skin of her stomach. We went to the ER twice and the surgery team told us there was just nothing we could do about it. We bandaged her up like a mummy to try to lessen the amount leaking out and covered her skin in barrier cream. Luckily for us, the G-tube fell out after a week at home, and we rushed her to the ER where they put in a new, better G-tube. I almost died from a panic attack…
She immediately began getting occupational therapy for feeding. It was very challenging to find the right nipple that would work for her (she had a weak suck) and the right thickness of milk. After about six months of therapy and finding the Nuk orthodontic nipples, I was able to try to exclusively feed her by mouth. It was scary, as I was terrified she’s start aspirating again. She never showed clinical signs of aspirating, so at 9-months-old they let us take out the G-tube. My little champion! We were all so happy.
We have added in physical therapy, aqua therapy, vision therapy, developmental therapy, and speech. We hope to start equine therapy as soon as she’s old and big enough. We stay busy.
She was recently diagnosed with occipital lobe seizures and takes Trileptal. She also battles constant constipation and takes Miralax daily. This has been life changing.
Hazel feeds exclusively by mouth but mainly enriched formula and some purees. She still lacks the maturity for real solid foods, but we practice. She began rolling over after the G-tube came out, and she has head control but can tire easily and prefers to lean her head against support if it’s available. She cannot sit on her own but she’s working on it. She isn’t crawling, although she sure can roll across the floor! She is starting to make new sounds, but isn’t verbal. But she can certainly communicate pleasure and displeasure.
In May of 2015, we finally received our diagnosis. She has Bohring-Opitz Syndrome, a very rare genetic syndrome with only a little over 40 diagnoses worldwide. We started a new journey of learning to live with this very severe syndrome. At her current age (2 years), she is at about a 4-6 month-old level with physical skills and at about 10 months socially (my gold-star girl!).
Hazel loves being outdoors, enjoys playing with her dad, and really responds to lights. She likes textures and feeling soft and rough things. She stays home with her mom and has an amazing nanny a few mornings a week. She is known for her masses of curly blond hair and her mint green glasses. She is the sweetest, toughest girl we know!