Hazel’s Birth Story – Part II – September 1, 2013

At 5:33am on September 1, 2013, Hazel was born. She was 4 lbs 9 oz and was 17 inches long. But while trying to feed her the following day, she turned dusky and was whisked to the NICU. She was silently aspirating. She spent a month in the NICU before leaving with a G-tube.

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 they let us take out the G-tube. Hazel now feeds exclusively by mouth but mainly formula and some purees. She still lacks the maturity for real solid foods, but we practice.

Hazel also goes to physical therapy once a week. 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 yet, 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!

During this time we kept searching for a diagnosis. She had a chromosomal microarray and was tested for Prader-Willi Syndrome. She went through two MRIs, an EKG, metabolic panels, and went to many specialists. All tests kept coming back normal, which was both a relief and a puzzle. After two EEGs, she was diagnosed with occipital lobe seizures and takes Trileptal to prevent grand mals. She battles constant constipation and is on Miralax daily. She had severe reflux in the first year of her life, but it has improved as she ages.

In May of 2015, we finally received our diagnosis via whole exome sequencing. 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.

Hazel loves being outdoors, enjoys playing with her dad, and really responds to lights. She likes textures and feeling soft and rough things. She is known for her masses of curly blond hair and her mint green glasses. She is the sweetest, toughest girl we know!

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