We had a little girl on July 19, 2011! Life since then hasn’t been what we expected, so here’s the first of 3 posts that will tell you about our journey so far, and it’s been a crazy one.
Prior to birth, we had no idea that anything was wrong other than that she was small. At 25 weeks we were admitted to Mission Hospital in Asheville, she was too small and we almost had an early induction. However they adjusted the due date instead and sent us home after two days. We had a total of 7 ultrasounds during the pregnancy to monitor her growth and none showed any defects.
I ate well and exercised regularly, did my Kegels, kept hydrated, took my vitamins, got plenty of sleep. All those things we do when pregnant to be the best for ourselves and our babies.
After what seemed like an endless last two weeks, Hermione finally decided it was time to come out to play. We went into labor on our own at 41 weeks and were able to have a drug free, natural childbirth at Mission Hospital with her oldest brother, grandmother, great grandmother and father all there to witness it. Her gender was a surprise and we were all very excited to have a little girl!
Hermione Beatrice Rose Robinson was born on July 19, 2011 at 2:47am. She was 5lbs 14oz and 22 inches long.
Within minutes of birth, the odyssey began. She was taken to the NICU because she was working too hard to breathe. It was there that a wonderful nurse discovered her cleft palate. Hermione has a cleft in her hard palate, so it’s not visible from the outside. After 4 hours of observation we were discharged from the NICU and sent to Mother/Baby.
We never held her on Mother/Baby. The nurses did their assessment and decided that she needed closer attention, saying she had too many secretions, so took her to the nursery. We were all well more than 24 hours without sleep so no one argued much. After a couple of hours it was decided to that she needed to go back to the NICU.
Her breathing was the issue and she was diagnosed with a Pierre Robin Sequence which includes a small lower jaw, a tongue which tens to ball up at the back of the mouth and fall back towards the throat, breathing problems and often a horsehoe-shaped cleft palate.
Hermione was given a nasal trumpette (a tube through her nose) to help her breathe. We were only able to hold her for very limited periods – her father didn’t get to hold her until she was three days old. She was fed through a tube in her nose and an IV directly into her veins.
It was decided to wait her out for a couple of weeks as some Pierre Robin babies outgrow the breathing issues. She had several dramatic drops in oxygen saturation, having to be bagged twice. Her color would change, she’d turn pale or dusky, even blue and purple when her oxygen went down. It was a constant battle to keep her oxygen levels at a high enough level to avoid brain damage. She would often have a desat just from being touched.
So there’s the story of the first two weeks of Hermione! Stay tuned for the rest of the story of our three and a half month hospital journey with Hermione.
Thanks for reading!
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.
If you are unfamiliar with all that Duke Hospital is, let me share a bit of information about it. Duke Hospital is in the top 10 hospitals in the country and has been for more than twenty years. Duke Children’s Hospital is consistently ranked among the top pediatric hospitals in the country. It’s Neonatology Unit (where we were going) is ranked # 16 in the nation by US News and World Report. It’s a research hospital with cutting edge technology and innovative treatments.
We’d heard very good things about Duke from other parents of children with similar disabilities. Dr. Marcus, the pediatric plastic surgeon, has an incredible reputation. Duke has pediatric specialists that we just wouldn’t have access to without transferring to a world class facility.
This was a huge adjustment for our family. My mom lives a couple of hours from Duke and took time off work to keep the boys while we stayed with Hermione. Once again, time stopped.
The first two days after arrival, Hermione was in isolation, so we had to wear masks and paper gowns and gloves. Everyone wears gowns in the NICU at Duke, it’s much more controlled than things were at Mission – the rules are very strict about visitors and in fact about everything. As a teaching hospital, there were a lot more people involved in her care. Rounds every morning were essential, as this determined her course of care. Hermione had a nurse, a nurse practitioner and a neonatologist all directly attached to her. We knew immediately that it was the right decision.
TESTS, TESTS, TESTS!
Hermione has had every test imaginable. She developed hypertension during transport (it still hasn’t gone away). Renal, Cardio, Urology, Neuro, Speech, OT, Plastics, ENT, the list goes on and on. CT, spinal tap, literally dozens of blood tests and cultures, 3D-CT, ultrasounds, ECHOs, x-rays, etc, etc. We were fortunate enough to have a room at the Ronald McDonald House of Durham for the entire duration of Hermione’s stay. We did laundry, watched football games, played with the boys in the playroom, met the Rockettes and were served dinner by all kinds of generous people from lawyers to the Duke Lacrosse team. We connected with other families and were able to stay three blocks away from our little girl. We knew people who lost their children. It really does put it all in perspective – there were so many children there who had more serious challenges than Hermione did. There was always help for the mortal challenges with Hermione. This was not always the case for children who came here for care. We still stay in touch with many of the families that we met there.
The Ronald McDonald House in Durham housed people from as far away as France and New Zealand. People come from all over for the amazing care that Duke as to offer. We knew families who had been there for months and even years with their children.
Hermione got a cold within three days of our arrival, which proved to be hugely problematic for her. She went into isolation and suffered partial lung collapse. This put off the exploratory surgery (bracheostomy) which would determine her course of treatment. She didn’t see a human face without a mask or feel touch except through gloves for two weeks. It seemed like an eternity. We’d been there for almost three weeks before we even began to explore the issue with her jaw.
She finally got her bronch! The doctors told us that what she really needed given the results was a jaw distraction. Cue more tests and further consults with doctors. Even though the initial evaluation didn’t show that her jaw was far enough back to warrant a distraction, internally it was much further back than it looked. JAW DISTRACTION Hermione got her jaw distraction on October 1st. The plastic surgeon did a fantastic job, the techniques are very advanced and only a little screw showed on the outside. Surgery lasted for about 4 hours and Hermione did very well. The surgeon cuts the bone in 4 places on each side and inserts titanium distractors, devices that move the jaw forward.
Over the course of a week, the screws are turned by either a plastic surgeon or a nurse, slowly pushing the jaw forward. The space will fill in with bone and the distractors taken our after a few months. Hermione’s jaw was .8cm too far back after the 3D CT scan. The distraction process actually moved her jaw 1.3cm to allow room for it to settle back. Sometimes distractions have to be repeated if the jaw settles too far back and blocks the airway again.
After surgery, Hermione needed to stay intubated and as still as possible for several days while the distractors did their work. She did notrespond well to the drugs that were needed to keep her sedated. For two days she convulsed and fought, it was a constant battle. It took two nurses to change her diaper in order to keep her from jumping out of the isolette. She cried and cried and cried and struggled. She had and episode of respiratory arrest – her lungs seized up and she completely stopped breathing, then started again a few seconds later with her heart rate dropping rapidly.
Finally, on the second day after surgery, the pharmacist found a drug combination that would keep her relatively quiet, however it had to be kept at as low a level as possible in order to avoid long term damage. This was one of the worst parts of everything that she went through. We’d sit next to her bed and watch her shake or touch her and feel how limp she was. We didn’t hold her at all for a week. The only comfort we had for her was to talk to her and stroke her little body. She had a music player with Mozart that we played almost constantly to soothe her. I can’t imagine what it was like for this little girl, how scared she must have been.
After four days, we were finally able to decrease the drugs keeping Hermione sedated and unresponsive. While we were working to get a feeding tube in so that she could eat for the first time since surgery, Hermione had a ten minute long seizure. I was there when it began, in fact I was watching her and saw her eyes roll in the back of her head. I tried talking to her and she was completely unresponsive. I asked the nurse what was going on and as I did she started shaking violently, her eye rolling and her tongue moving, mouth foaming. It seemed like eternity. My husband had literally just stepped out for a cup of coffee and I texted him to come back ASAP. There must have been a dozen people around her bed by the time it ended. Movement didn’t come back in the right half of her body completely for three hours. Since she was still intubated, she had no breathing problems. She was on an EEG for two days, and while her brain activity was slightly unusual, it wasn’t abnormal enough to be problematic.
Two seizures gets a diagnosis of epilepsy. So far she hasn’t had another one and she is set to be on seizure medication for at least a year to ward off any future activity. A terrifying moment but hopefully an isolated one.
We had a huge battle to get her extubated and eating again. The ICN doctors just did not have the same vision of how this should go for her and kept putting of drawing down the medications and getting the tube out, despite the all clear from the surgeon. We appreciated their caution, but we were very concerned about the incredible amount of medication and the side effects that she was experiencing. Hermione is listed as having an opiate sensitivity and a morphine allergy and she has had the physical reactions to back those up. It took us calling a family meeting to have anyone listen to us about her intolerance for the level of medication. It’s still not clear how much of a role the huge level of medication played in her seizure. She had 3 different heavy narcotics in her system at the time.
The distraction completely cured her breathing problems!! Once extubated, Hermione has been breathing on her own ever since. It really was a miracle surgery. It was like having a new baby, a new lease on life and an incredible victory.
This is video of her just minutes after extubation, breathing on her own for the first time (the nasal cannula only lasted for 12 hours and was just precautionary). Compare it to the video of her breathing in this post and you can see the amazing difference!
Now the only thing between us and home was the bottle. From the beginning we had known that this would be a long process. Everyone had warned us that after being exclusively tube fed for so long it would be an uphill battle to get her eating by mouth. Just as at the beginning of this journey, we were prepared to be in it for the long haul. Hermione was now almost three months old, and babies lose their sucking instinct between 2 and 6 months. We had consistently worked with her on the pacifier and had given her as much positive oral stimulation as possible throughout her stay. In retrospect we could have perhaps done more, but we were just so concerned with keeping her breathing.
We had a huge battle with the feeding team at Duke, who insisted that she would not be able to swallow and so would need a gtube. This seemed a little insane as she was in full blown withdrawal at the time that they made this assessment. She was finally weaned off of the narcotics and when that happened she went through two days of shaking and crying and didn’t sleep for 36 hours. We didn’t feel as though she was really given a chance. She had been bottle fed at Mission when she was just two weeks old, though she’d only gotten up to half over her feeds and that was only for three days. She had also been taking drops of milk on her pacifier from us after we insisted.
Suddenly people were telling us that Emanuel Syndrome meant that would probably need a gtube. This is just crazy considering how many children with Emanuel eat just fine. It is astonishing how many doctors look at a diagnosis without looking at the patient. Emanuel doesn’t mean anything unless she shows us something and we are not going to allow her care providers to make assumptions about her based on her chromosomes. The feeding team was completely unsupportive, only offering us one chance at the bottle per day and one week to make a decision about surgery. That’s just bad behaviorism! Of course she’s not going to want to work at eating out of a bottle if she’s accustomed to the food just going in without any effort on her part. If you feed her in the tube seven times a day and then put this weird thing in her mouth only once she’s just not going to get it. Besides that, how can you tell us over and over again that this is a long process and then not give her any time? If it was going to take potentially two weeks to get her on the bottle or two weeks surgery scheduled, completed, her recovered and us taught how to use the gtube, then why not go for the bottle instead of both putting her through surgery and losing out on all of the developmental advancement that she would get from eating by mouth. This is obviously not what we expected from a place like Duke.
We called a family meeting and made our case in front of the head of neonatology. He was in our court and gave us his full support. He gave us the go ahead to try her on the bottle at as many feedings as we wanted. The feeding team specialist (who incidentally we will see again as she’s on the cleft palate team) still didn’t give us her support. She was unsupportive at best and passive aggressive at worst. By this time we had been moved out of the ICN and into the Transitional Care Nursery because she was doing so well.
Originally she was on a Haberman feeder, but she just wouldn’t take it anymore. Looking at the nipple on the Haberman, we realize that it was very similar in feel to the suctioning device that was the bane of her little existence. We approached the team and said that she need to move to another of the cleft palate nursers as we thought that her aversion to the bottle might have to do with her fear of the suctioning device. The feeding specialist then gave us Pigeon bottle and valve with a regular nipple. It made a huge difference. Hermione would latch and suck for thirty to forty minutes. The problem was that at most get 20 ml of a 65ml feed, usually more like 10ml. It was hard work for us all. My husband and I stayed at her bedside, giving her 6 of her 8 feeds a day so that she could work on the bottle and just leaving to spend a little time with the boys, eat and sleep. After a week of us having to come up with ideas about what kind of bottles to use with her and not feeling like we were getting any guidance from the experts, we were exasperated.
At last we decided that we just weren’t going to get there without more help. We asked to transfer back to Mission, who’s feeding team had her on the bottle at least for a few days right after she was born. We clear to the head of neonatology that the reason that we were leaving was that we believed that the feeding team at Mission was superior to what we’d found at Duke.
On a fun note – Hermione had her first airplane ride. She flew by fixed wing from Duke back to Asheville. We didn’t even find out until she landed and we did the math on how long it took her to get there. When we asked how she got there on Saturday instead of Sunday, we found out that she had flown! That baby has had so many adventures.
At Mission we found a VERY supportive team.
CLEFT PALATE FEEDING
Cleft palate babies can’t create suction, so they can’t drink out of a normal bottle. Mission worked with us and the Mead Johnson Cleft Palate bottle in order to get volume in. We mixed and matched tips and finally got something that worked. It was amazing to get her eating on her own!
The feeding team listened to our ideas but also offered feedback. They told us that of course a feeding tube was still possible – which was fine with us, we just wanted to give her an honest chance. They came to see us three times a day for the first few days that we were there. She made consistent progress and (though that took a bit of a battle as well) was offered the bottle at every feeding, even when we weren’t there. Our caregivers at Mission were amazed at her transformation, what a difference!
Finding the right people who supported our vision was essential to her feeding success.
After a week at Mission we moved to transition, where I stayed with her 24/7 for a week, giving her all of her feeds. Mission has as beautiful transition ward. The rooms are private, with a sofabed, crib and beautiful mountain views. It was so good to be near her. She finally went to on-demand feeding a couple of days in and lost her feeding tube on day 4. One week to the day she moved to transition, our daughter finally came home on October 29th.
As you can see, her big brothers (ages 3 and 5) were VERY excited to have their baby sister home. They still are over the moon to have her – we have remarkably never seen a trace of jealously, though this journey was rough on them. She could not have better big brothers.
It has been a long, hard road – this is true for every parent of a child with a disability. You are dropped into a world unknown and unwanted with no way out. Our experience in special education has been both a blessing and a curse. We certainly know how to navigate the system, where to go for help and how to help her developmentally. We also are keenly aware of what choice boards and walkers look like. We understand that this will be a lifelong struggle. It’s hard to accept this, but she amazes us daily.
If she is like Peter Pan and never grows up, that will be just fine. We’ll ride the teacups with her at Disney World when she’s forty. Of course we’d do that if she went to college.
We would not have made it through those dark days without the immense support of our family and friends. The words of kindness, cards, prayers and good wishes all made it possible for us to get her what she needed. THANK YOU to everyone who was there for us through this entire ordeal!
Hermione is doing very well at home. We thought that we’d be bringing home tubes and machines, at home nurses and around the clock care, but other than her medications for blood pressure, seizures and extra saliva (a cleft palate thing), Hermione is a normal kid. She is very small for her age, in the .2 percentile on weight, but is growing with the curve. She’s developmentally behind, but only by a month and consistently follows the developmental curve so far.
Special needs children need a chance to be the most that they can be! There is a fine line between hope and denial, between pushing her to be all that she can be and accepting who she is. We demand the best of her, just as we do of our other children.
Hermione is proof that a diagnosis is not a sentence to a life without hope. We are excited about her future.