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!

My pregnancy was a typical one. All of the expectations, anxiety, and joy of bringing a new life into this world. At my 37 week check-up, I was told I was “having the pregnancy that everyone dreams of”. No complications, great health, loving life.

At week 38, I watched the midwife’s eye grow larger with concern when my baby’s vital were low. She also noticed that my fundal height had not increased since the last week. They strapped me to a monitor, which indicated the baby’s heart rate had slowed. They were concerned, and scheduled me for an ultrasound later that day. This was supposed to be my last day of work before leaving for maternity leave and life as a stay-at-home working mother.

I called my husband and shared the news. I remember trying to play down my concern at the time. I thought they were just being very cautious. We returned for the ultrasound, and the technician joked as she probed my belly. She told us to return to the midwife’s office for the results, but then thought again and said she needed to go speak to the midwife herself. At this moment, we realized that something was wrong. She walked us back to the waiting room and went in to see the midwife. We started to become more and more anxious as we waited. What did she see that made her so concerned?

When we saw the midwife, she reported that our baby was very small for her gestational age. They wanted to consult the MD on call and were going to send us to the local university for further diagnostics. However, we couldn’t get into that lab until the following week (because it was Labor Day weekend). The midwife and MD debated on what we should do. After hours of anxiety and debate, they recommended that we induce and welcome Hazel into this world early so that she could receive any care she needed outside the womb.

We decided to follow through with induction and return to the hospital that evening. We rushed home to pack our bags, scan the unfinished nursery, take care of the dog, and call our family. I remember sobbing as I looked at the ultrasound photos from her last healthy scan. What was going on with my little girl?