In Transit

“Spina Bifida will be part of their life, but it won’t be the most interesting thing about them”

Colleen Payne

April 14th we boarded a flight from Tampa to Philadelphia. My husband and I were accompanied by my parents, the incomparable Nancy and Dominic, as well as my lovely Mother-in-law Kim. We were a travelling party of 5 and a half. The parents had decided to drive, and so they arrived in the Pennsylvania area about half a day before Jesse and I arrived. We touched down in Philly, and made our way to a Sheraton nearby the hospital. I was already exhausted, and knew I had a really long few days of medical testing ahead of me.

All I wanted was a bed, a good cry, and a stiff drink. But only one of those was possible, as of course I had been abstaining from alcohol, and also Kim was staying in our room, and I did not want to subject her to my weeping. She was already stressed out to the max worrying about HER son, and we had that in common. My parent’s were staying with family friends in a suburb about 40 minutes from the city and so I would not see them until the following day. We checked into the hotel and noticed a cute dim sum place next door adjacent to the lobby. I drowned my sorrows in some bao buns and scallion pancakes, and then settled in for the night to try and sleep

The keyword there is TRY.

For some reason the hotel’s fire and emergency system was on the fritz. Twice during the night the loud siren/intercom began to go off and urge us to head to the stairwells and evacuate. Other guests had informed us this had also happened the previous day multiple times, and was a false alarm. Luckily within five minutes the front desk had come over the same intercom and urged everyone to return to their rooms. It was a long night.

The following morning we checked in at the hospital, and I stepped into the Center for Fetal Diagnosis and Treatment for the first time. I was met with many emotions. Relief that we were there, and being proactive about the baby’s health, fear that we wouldn’t qualify, general anxiety over the testing we had to do. I put on a brave face, checked in with the office staff, and our party of 5 and a half family members waited in the lobby area.

Eventually they brought us in to an ultrasound room, and began what ended up being a 4 hour ultrasound. They needed to take very specialized pictures of the baby from many different angles and he was just NOT cooperating. They measured every inch of his tiny body, which meant jabbing several different sizes of wands into my pelvis for 4 hours. It hurt. a lot. I had to ask them to stop and let me pee at least five times, as the constant pressure on my bladder was overwhelming. We changed positions, on my back, on my left side, on my right side etc. I did my best to suck it up and not complain, knowing that this was probably the easiest part of my day.

Below is a picture of our baby at around 12 weeks, so a little bit of a throwback. You can see here that his legs are crossed. In hindsight I think that is when I first started to get a gut feeling that there may be something the matter with his development. In all ultrasounds up to this point he had his tiny legs crossed at the ankles and we didn’t see independent leg movement in both legs. This was the case at my initial OB visit, and even at the independent gender reveal center we went to at 15 weeks, his legs were crossed in a way the tech couldn’t see his genitals. We thought we were going to have to re-schedule the session, until I sneezed and his legs moved, they were able to snap the pic and then promptly he went back to the same position. I tried to just convince myself that he liked that position, but my gut feeling ended up panning out. During this CHOP ultrasound they looked at everything, and we heard a lot of good things about his heartbeat and fluid levels, his weight was good etc. They eventually after a lot of work got some proof of movement and flexion in his left leg, which was awesome news. The right leg appeared to have some weakness in the knee and ankle area, but his hip movement was good. They advised that we may not know the extent of the damage until he was born and they could do some more testing. He showed signs of a Chiari II malformation, which is very common in SB babies and occurs when the spine pulls down on the cerebellum. So we now had some specific information on his development, at least for now. Some answers related to his renal function and exact mobility needs we will have to wait until delivery. But for people like me? Knowledge is power.

Image may contain: ultrasound

Our day continued with lots of emotional meetings with social workers, a genetic counselor, and a research team. The social worker was lovely, we discussed our support systems, and family dynamics, I’m sure they wanted to figure out if we had the means to re-locate should we be approved for the procedure, and whether or not we would have the emotional support we needed for this big event and transition. The genetic counselor and I went over our amniocentesis results, and both Jesse and I’s family medical history. What was interesting was that his chromosomal reports came back completely normal, no abnormalities at all. Which just gave me a flash back to my discussion with the OB about not having any risk factors/family history related to this medical condition. I told the genetic counselor as much, and she repeated what our Florida doctor had said. The repetition was comforting.

The day ended with a scan of the baby’s heart (Which was perfect btw, A plus little guy) and then I was to get an MRI. I have an issue with enclosed spaces, and had already had a very emotional day, so to say I was anxious was an understatement. Jesse and I walked to Radiology, and they put me in a really cool hospital gown, and told me to take off any jewelry I had on. This.. SHOULD have been simple. I took off my wedding band and engagement ring and stuck them in my husbands pocket. Took out the small earrings I had on, and then…. we hit a snag. In late October pre-pregnancy I had gotten my nose pierced. I loved it, it was super flattering and I got compliments on it all the time. The issue was…. it was my first and only facial piercing and for the LIFE of me, I had NO idea how to take it out. I twisted, I torqued, I knew the brand and googled the easiest way to take it off, and was met with dozens of google reviews saying I had apparently picked a style that was notoriously difficult to get out alone. I had my husband stick his man fingers in my nose trying to help me, nothing worked. Eventually the tech came in to see what had taken us so long, as im sure we had been gone for at least a half hour. She seemed irritated. I was embarrassed, and still sniffling told her what a spaz I was, and how I couldn’t remove it. Another tech came in, a middle aged woman who patted my hair and told me since they only had to look at my pelvis it would most likely not effect the machine and walked me down to the machine.

My anxiety had spiked at this point, and I felt like the machine would suffocate me. They put me in the machine initially and when my limbs began touching the edges of the tube I started panicking and asked them to please pull me out until I could calm down. The same woman (BLESS HER) pulled me out, and began to comfort me. She got me a pair of ear buds to wear, so I could zone out, they gave me a little oxygen to use while in “the tube” and a face mask to wear so I could pretend I was in bed napping, or… literally anywhere else. The combo worked, and I spent the next 60 or so minutes in the MRI machine. I was SO happy when it was over. I put back on my street clothes, returned to the waiting area where I met with my family who seemed really confused on why this had taken so long. Apparently that was the theme of the day.

So that … was Day 1.

All I can say is .. ooooof.

The In-between

“The Waiting is the hardest part.”

Tom Petty

Once my husband Jesse and I received the official diagnosis of the baby, we were put in contact with the coordination team at The Children’s Hospital of Philadelphia. (CHOP) We returned home from our appointment on March 27th, and I spent the next 20 hours or so sobbing off and on, and forcing myself to eat. Something I would probably not have bothered doing except I knew that my little guy needed the nutrients, and that was more important than me being sad.

I just had so many questions. “Why us?” “How did this happen?” “How does this make any sense?” I was wracked with guilt, thinking that my son’s condition was my fault. At our past appointment I had to answer a very detailed questionnaire and it just didn’t add up. This condition did not run in my family, I had excellent pre-natal care, I had been taking FDA approved vitamins for many months before we conceived, I had no history of drugs, I was under 35, my hyper logical brain could not make any sense of this diagnosis. A plus B could not equal C, and I couldn’t process what they had told me. Our doctor could sense my guilt when I sobbed out questions about how I could have done better, what I could have done differently to stop this from happening? He explained to me that… well? They didn’t know as much about Spina Bifida as one would assume. The most common thing that correlates to the condition is a lack of folic acid in the mother, but it is not a causation. Other common theories are, exposure to common viruses, over heating, environmental exposure to certain chemicals, the list goes on and on. There have not been enough studies to pin point what actually causes it. The ambiguity of this reality keeps me up at night. Its hard to live with a reality that I did nothing wrong, did all the things I was supposed to do, and am still dealing with the fallout. It seemed so unfair. It seemed so random. I don’t handle random very well. I am not an impulsive person. I very anally and meticulously plan when to relax. Some would call me… “high strung.”

The following day I took off work. Luckily due to being a pretty type A nerd, who doesn’t like to take off work. I had banked a lot of personal days and was able to spend the next few days at home with Jesse, kind of processing what was going on and figuring out what we were going to do. We got a call from the coordination team at CHOP. Deanna (last name withheld for privacy) was a true angel, and probably spoke to me for a minimum of 70 minutes, meticulously going through our baby’s diagnosis with me, all the best and worst case scenario symptoms he may encounter given the lesion he had. (All SB cases are different and depend on how high/low on the spine it occurs. So the severity can range quite a bit) She went through what my diagnostics would look like if we decided to go to Philly, and we worked out a timeline. We were set to go up and meet with the Fetal Diagnostic team on April 15th, 2019. This was not an oversight on anyone’s part, in reality I needed to be at a certain gestation before the diagnostics and the potential surgery could happen, and we found out about Baby H, about a week and a few days earlier than most families, so we would need to wait just a little bit longer.

This was both good and bad news. Good news because I was happy we would have the chance to go and meet with… arguably the most talented and advanced pediatric surgical team in North America, if not the entire world. Bad news because it meant over two more weeks of waiting. Waiting is something we had already gone through so much of. We waited two weeks to see the specialist. and now would wait two and a half more weeks to see if the team at CHOP would even be able to help our baby. All the while knowing that the tiny life inside me was also waiting, and potentially losing more and more function day by day. I would rub my tummy every morning and cry hoping that he was okay, knowing that potentially he was getting worse with every passing day. Each day meant more and more of his spine was exposed while we waited for answers.

After taking the latter half of a week off from work, I finally went back. It was nice to see my friends and co-workers, and the normalcy was comforting. I kept telling myself that things couldn’t be SO bad, if I was at work. If I was working how bad could it really be? So I did my normal hours, I talked to my bosses about what was going on, talked to HR, kept them in the loop about the possibility of me taking medical related leave etc. I took a lot of walks around the office nature walk, and took lots of pictures of baby ducks.

I talked to my therapist. We had been seeing each other via Skype for about six months and she has been (and continues to be) a complete god-send. It was nice to have a neutral party to cry to, as I felt that doing that constantly around the house at my husband was detrimental. She helped me through a lot of my misplaced guilt and anxiety. She helped me realize where that anxiety was really stemming from. Fear. I was scared. I was scared and sad that my angel baby would have a harder life than others, I was scared that somehow his hardships were my fault, I was scared that people would treat him differently and not see his potential, I was scared that the longer I had to wait for this treatment his health may suffer more, I was worried about all those things mom’s worry about, bullying/happiness/the future etc. The things that keep all mothers up at night, let alone moms of kids that have some special needs.

It’s hard to describe how you can love a person so much. A person that you haven’t even met yet. But I loved this little soul so much, and all I wanted was to make sure he was okay, and he would be loved and happy. I wanted him to grow and thrive and live a fulfilling and independent life.

So I continued to wait…. ❤

Dear Baby,

” ‘Sometimes,’ said Pooh, ‘the smallest things take up the most room in your heart.’ “

A.A. Milne

The big featured photo on the initial WELCOME blog post is the earliest picture I have of my baby. My very loved and VERY wanted baby. One day he may read this, so I will try not to be TOO embarrassing.

In June 2018 I began taking pre-natal vitamins. I was trying to get as healthy as possible because Jesse and I had been seriously talking about actively trying for children, and I wanted to make sure everything would go according to plan. I was working out 4-5 days a week, had lost about two dress sizes and about 20 pounds, and was feeling the healthiest I had in quite some time. I had weaned off my anxiety medication, and was using a Cognitive Behavioral Therapy to help alleviate some symptoms of the same, as I had dealt with Generalized Anxiety Disorder since my teenage years. I was eating cleaner, taking lots of vitamins, and eventually went off my birth control pills.

We began actively trying for a baby around September of 2018, which meant I had been on my vitamin regimen for about 4 months. The first few months brought negative results, but we hadn’t been too strict as far as marking ovulation days until a little later in, so I wasn’t concerned. The first week of December 2018 I got a positive pregnancy test, it was not one of those big romantic reveals like you see on TV. I had a late period, and just had a feeling, but my first few over the counter tests had come back negative. On a whim I decided to shell out the extra $2.50 and bought one of the fancy digital tests to see if that could give me an earlier or different result.

It was positive. I ran into my master bedroom with my jeans at my ankles waving a pee stick at my husband while exclaiming ” I NEED you to look at this, I think I am hallucinating!”

Then because I am a generally neurotic person, I took a few more. I couldn’t believe it. We wanted this baby so much, and I just had to keep convincing myself that they were real and really happening. I found out a little earlier than most people would, so I had to wait about three more weeks before I was far enough along that an OB would see me to do the initial scans and confirmation appointment. I took a test a week after that just to keep convincing myself it was happening. The first week of January I was able to go to my first OB appointment, my mother, younger sister, and husband all accompanied me

They did our initial sonogram, he was the size of a grain of rice, the ultrasound tech confirmed the pregnancy was real, and we all cried. My sister Katie affectionately called him “Rice Baby.” Rice Baby was the first grandchild on BOTH sides of our family, and the first baby to be born in our friend circle in quite some time. Everyone was thrilled! Other early nicknames included “McNugget” and “Earth Pig” which was an allusion to the Chinese new year. We were so happy, I spent most of the day crying, and looking at baby clothes on the internet. We knew we needed to wait to tell employers and the general public until closer to the end of my first tri-mester until we were out of the danger zone of miscarriages.

After that everything seemed normal for the most part, we discussed names and nursery ideas. my February appointment seemed very good, my blood work had seemed fine, strong heartbeat, I had even lost a little weight towards the beginning due to the morning sickness, but they did not scold me, and I was feeling overall pretty healthy. At 15 weeks we had been too impatient to wait and we went to an independent ultrasound company for a gender reveal appointment, we found out he was a boy. The first week of March I went in for my typical appointment, and they did some blood work, and an early Gestational Diabetes test. I was 16 weeks or so along. I was worried about the GD test, because I had struggled with my weight for a lot of my life, and while I was currently in a good place I was wracked with paranoia. I left to go home that day with my biggest fear being I would get a call the following monday that I had failed my glucose test.

On Monday I did get a call. I sighed when I saw the caller ID. I rolled my eyes and knew it was bad news, because if the results had been negative they would not have bothered to call. Moreso it was odd because the actual doctor was calling me and not the nurse or the front desk. I braced myself.

The doctor kindly informed me that, my blood panel had come back strange, and they wanted to refer me to get a high level ultrasound at a High Risk OB in Temple Terrace. She explained that the blood test was a screening and not a diagnostic, but my levels had indicated a chance for Neural Tube Defects, and I needed to go and do the diagnostic. Unfortunately the earliest appointment wasn’t for another three weeks, and so the earliest time I could see the specialist was March 27th.

March 27th. It’s so strange to type it out, because I can honestly say (so far) was the very worst day of my life. I remember it like a movie, a slow motion play by play of an out of body experience. I entered the specialists office with my husband and my father. My dad is a retired M.D., and so I wanted him there in case the news was bad. He would be able to explain things to me and be a clinical perspective on our side, which I really needed after the last month of me losing sleep, and researching every possible thing that could be the matter with our little one. The ultrasound started, our technician was very nice, and began by asking us innocent questions about the baby and our family, “Was this our first pregnancy?” “Did we know the sex?” etc, making small talk

That quickly stopped. she began to take notes and specialized photos, and I knew something was wrong. Statistics kept swimming in my brain, so many people I knew had done this same screening and things were FINE, the odds of it being something serious were SO low, etc. Trying to comfort myself even though I knew in my gut we were about to hear some bad news. The technician excused herself, which I knew was really the confirmation I needed, if it had been nothing she would have told us on the spot but instead she went to summon the actual doctor. He came into the room

The Doctor came in, and in a very kind but direct way told us that our baby had a form of Spina Bifida called Myelomeningocele. It was a neural tube defect that occurs during the first four weeks of pregnancy. MMC (for short) occurs during the replication of early fetal cells, and the spine does not close correctly. Our son had a lesion on his spine, that looked like a bubble, where his spinal cord and nerves were exposed to his amniotic fluid, which was causing damage to his nerves and would effect his mobility.

Even though my gut had earlier told me that something was wrong, I sat there sobbing. My dad had gone pale, he had been convinced we had dragged him along for nothing. Jesse was stunned, gripping my hand and staring into space. It was not a good day. The Doctor proceeded to perform an amniocentesis on me. For the laymen at home that is when they stick a needle into your pregnant belly and extract a few vials of amniotic fluid to test for chromosomal abnormalities.

We were testing those because we had been given a few options by the doctor to discuss. The first was termination, which legally they are required to tell everyone who comes into the office, but was heartbreaking to hear nonetheless, the second was a surgery that could be done post birth to the baby to close the legion, and the third was a little bit of a long shot, but would include an in utero treatment with a specialist in Philadelphia, that would close the legion while he was still developing, and while it wasnt a CURE, it would ensure no FURTHER damage would be done to the baby. The longer the baby was exposed to the amniotic fluid, and the longer the spine was pulling down on the baby’s cerebellum, the more damage that would be progressively done, with no way of closing the legion until after he made his appearance into the world.

So we took a deep breath, and we made some phone calls. And in a HUGE leap of faith we….. went to Philadelphia. To complete a diagnostic to see if we would be eligible to get our son some preemptive care.

And that is where I am in now. In Philly. But more on that later.