LIFE IN THE NICU
It’s an out of body experience to be in the NICU. Here’s your new baby and you have to hold her with people around you constantly. Even when you draw the curtain there is no privacy and even if there was, you’re scared to pick her up for fear of breaking her irreversibly.
There are two worlds – life inside and life outside. Life becomes completely compartmentalized. When you’re away, all you can think about is being there and when you’re there all you can think about is getting out. There is constant guilt about not giving one thing or another the attention it deserves.
People constantly talked about hearing Hermione from across the NICU. She was just SO LOUD.
Genetics often does consults in the NICU if there are congenital malformations, like a cleft palate. The Pierre Robin Sequence, along with tiny ear dimples and dimples on her lower back, were cause for further investigation. The chance of a genetic issue was VERY unlikely, but we did the test anyway. When they took her blood for the test, Hermione crashed – her oxygen plummeted and her heart rate dropped. We talked at the time about how crazy it was to put her through that for a test that wouldn’t mean anything.
We got the diagnosis two weeks after the blood draw, which is very fast for genetic testing. Diagnosis day was akin to the end of our world. It’s indescribable. We were absolutely numb for the first couple of days. It’s impossible to eat, to sleep, even to distract oneself with a book or TV or conversation. You sit there stare at the walls. There is nothing but the diagnosis. You want so desperately to go back to the days before you knew, to somehow change this incredible, deadly thing that has come. We took our boys to see Captain America two days after we found out. I still don’t remember anything about that movie, all I could think about was how our lives would never be the same.
You mourn for the child that you thought you would have, the memories that would have been made. First steps. Ballet lessons. School dances. Late night talks when she’s home from college. Her walking down the aisle. You go through the Kubler Ross stages of grief – deny that it’s possible, get angry at it, bargain with God, become depressed about your life sentence. Acceptance isn’t something that I think ever comes completely.
This rare genetic disorder has less than 500 known cases worldwide. It is a translocation of parts of the 11th and 22nd chromosomes, an extra piece breaks off and forms an extra chromosome. It was named 6 years ago for Dr. Beverly Emanuel by behest of a parent group. Individuals with Emanuel are similar in functionality to those with Down Syndrome and suffer from severe developmental delays and disability along with a wide range of physical issues. 80% never talk. Many do walk, but there are always delays. Global developmental delays are across the border.
There is a very active Emanuel community, mostly staying in touch online. The families are from all over the world. The oldest Emanuel diagnosis goes back about 25 years to the mid 80’s. There is only 1 professional paper on the subject.
Through later genetic testing, we found out that I am a balanced carrier, so my chromosomes are switched. The test results on other members of my family are still pending. What an oddly personal thing to know about someone.
A short list of possible effects from Emanuel –
Severe intellectual disability
Failure to thrive
Preauricular tag or sinus
Cleft or high-arched palate
Congenital heart defects
We are the experts on our child. There are 200 documented cases worldwide of this disorder. Chromosome 22 Central, the parent support organization that works with all kinds of Chromosome 22 disorders, connects the families. Every doctor we see quotes us the same paper, which is the only research information out there. We started connecting with other parents to learn more immediately, though it’s not always easy to see and hear about their children because it makes me look at the future, which isn’t productive until we get there. The only way for us to survive at this point was to focus on what was right in front of us.
We would have been lost without CarePartners Palliative Care. These third party doctors and nurses serve as mediators for families in the NICU who’s children have complicated issues or are faced with high mortality problems. Their support started on the day after we got the diagnosis and was instrumental in our outcome.
CONTINUED BREATHING STRUGGLES
Her breathing continued to be a big problem. She spent so much energy and focus working to breathe that she had very little left for development and growth or interaction. During this time she took a bottle for a couple of days, but it was decided that it was too risky with her airway.
Eventually she cycled and was unable to maintain her oxygen levels, which trended down over the course of a week (a point that we noticed but couldn’t get anyone to listen to us about). Finally she went into respiratory failure, with CO2 levels at 90%. She was able to go onto a CPAP, pushing oxygen into her lungs at a constant rate through her nose. She just barely dodged intubation, which had been expected to be needed, but her CO2 levels dropped quickly. Hermione stunned the doctors with that one. She should suffer no permanent damage from the experience.
A NOTE ABOUT SEDATION
Hermione was seemingly constantly sedated for various, murky reasons like “air hunger” and “agitation.” She was given heavy drugs like phenobarbital and versed and adavan, sometimes several times in a shift. This was frustrating to us because a different nurse or a different doctor often drastically affected how much sedation she got. We felt powerless. More often than not she could easily be soothed by turning on her music box or changing her position. We also saw her course of care change drastically after people found out about the Emanuel Syndrome.
Finally we posted a note at her bedside that we would like to have a phone call whenever sedation was brought up so that we could offer suggestions about ways to calm her without narcotics. If the drugs were necessary, that was fine, but we didn’t like the amounts she got and saw her oxygen saturation go down when she got multiple doses. This didn’t go over well, but it did slow the amount of sedation she got. Nurses work so hard and we had some wonderful nurses during our stay, however sometimes they have different philosophies on care than do parents. It’s not an easy balance.
TRACHEOTOMY and NISSEN – ALMOST
After three weeks with fits and starts of progress, Hermione’s doctors at Mission decided that it was time for some action. They started pressing us for a tracheotomy – a hole in her neck to bypass the breathing problems and get her home. A trach would have attached her to a ventilator. She wouldn’t be able to vocalize at all. In infants, the mortality rate associated with a trach is 10% (a number given to us by the surgeon), most of which is due to complications in the months after they go home. Hermione’s risk of death was not 10% in her current state, so we were reluctant to say the least.
We turned down the trach, asking why we weren’t exploring other options. They continued to pressure us for a trach for another week, and we continued to question why. If Hermione’s current mortality chances were less than 10% then why would we do this procedure? They also told us that she had reflux (though she never showed then nor has since shown definitive signs of it) and that a stomach wrap or Nissen would help get us home. This is a permanent procedure. People who have this done never burp or vomit on their own. Again we questioned the rationale behind this. We wanted to get home – but at what cost? We asked about jaw distraction and lip-tongue adhesion, both of which we’d heard about from other Pierre Robin parents.
We decided that it would be best to get a second opinion about Hermione’s course of treatment. It was an intimidating decision, but Duke Hospital is a world class hospital with pediatric surgeons (which was not an option at Mission). It was where we were planning her cleft palate surgery anyway, and it was near where we both grew up. There was another family from Mission that has just returned from Duke and we connected with them.
Our palliative care doctor was absolutely essential in our move to Duke. He contacted the surgeons there who agreed to take her case. The doctors and staff at Mission were not all as supportive. We actually had a nurse ask us what we thought that Duke could do that they couldn’t. We learned here that people in medicine have big egos. Hermione was 7 weeks old when she arrived at Duke on the day after Labor Day. We had been told to expect to be gone for two weeks at most.