Fourteen and a half years ago, our lives changed forever.
We had already suspected that something was not quite right with Anna. She had stopped nursing after a few days. I assumed that it was my fault, and since I was afraid that she was hungry, switched to formula and bottle feeding. She did well with that for a few days, but then it seemed like a challenge just to get her to drink an ounce. We called the nurses on the maternity floor where she was born and were reassured that she probably just had gas and an upset stomach because of the switch and not to worry.
I was still worried, but we had our first postnatal pediatrician appointment the next day (July 25), so I knew we would get answers then.
In the meantime, I received a phone call from someone from the state of Michigan. I’m not sure – my memories of that are vague. I remember that she told me that Anna had potentially tested positive for one of the disorders in the newborn screening test, and we should go to the hospital to get blood drawn to confirm it.
I was concerned, but still focused on our doctor’s visit.
When we went to see Dr. Simms, her pediatrician at the time, as soon as we were called back to the exam room, she greeted me, looked Anna over, then excused herself to get one of the other doctors.
I guess she wasn’t sure how I would react to what she would tell me next.
When they returned, she explained that Anna had tested positive for maple syrup urine disease (MSUD), it was very serious, and she was very sick. T
he only specialist in the state who saw patients was located at University of Michigan: we were expected down there and we needed to leave as soon as possible. I remember that her southern accent was soothing and the other doctor gently held my shoulders and guided me to a chair, but my mind was in a fog. I didn’t understand… Anna was born healthy. Both of her Apgar scores were 9. That meant we were supposed to live happily ever after.
At the time, Lance was working at Hafer Hardware, and it was lunch time. Dr. Simms allowed me to use the phone in her office to call him. I called the store, but he had just left for lunch. And of course, this was before we had cell phones. I’m sure it was only a few minutes before he finally called back, but it seemed like an eternity.
After reaching him, Anna and I headed home to pack before we headed to Ann Arbor.
On the drive to U of M I poured over my “What to Expect” book. MSUD wasn’t in there. I had heard of it, but only as an ailment of a serial killer in a crime novel I had read, not as a real disease.
When we got to the ER at U of M, Dr. Allen, a neurologist who treated patients with MSUD, and a gaggle of med students crowded into the small room. I remember that he removed Anna’s diaper and passed it around for the students to smell. He then took a swab of her earwax for them to smell. We were completely flabbergasted… what did he think he was doing?
We didn’t realize he was doing it to show the students that both smelled like they had been smothered in Aunt Jemima’s.
You see, there were signs that Anna had MSUD, but we never picked up on them.
She had a very high-pitched, shrill cry, but we joked that she’d sing opera someday. By the time she was 3 days old, she tensed her muscles so tightly she rolled herself over. We bragged that we had a wonder baby who was months ahead developmentally. Her diaper smelled sweet and syrupy.
We chalked it up to being new parents, and being so in love we thought her dirty diapers smelled good.And what we thought was fussiness with the bottle and me not being confident in nursing was actually because her brain had swelled so much that she lost the suck and swallow reflex.
By the time we were in PICU, she had an IV in her scalp because she was so dehydrated that it was the only blood vessel they could use. She had an NG tube giving her nutrition. She was hooked up to heart monitors and pulse-ox monitors. She looked so tiny and helpless there in the bed. We’d never felt so helpless as parents as we did then.
That day is one of the few times I’ve seen my husband break down and sob.
What information we were given about MSUD over the past few days was overwhelming. Most of the official definitions included two very frightening likely outcomes: mental retardation and death.
The prospect of having a child with a restricted low-protein diet was daunting as well. Would we need to become vegetarians, too? If we wanted to eat meat, would we need to hide it from her, making late night drive-thru runs to satisfy our cravings? Those fears seem so trivial now, but they were so real to us then.
Over the next two weeks, Anna got stronger.
After she got out of the PICU, she was moved to a regular room. After she regained some weight and was able to take feedings by bottle, we were able to come home.
She was sent home with the NG tube, as she was still taking about a quarter of her formula that way. Shortly after we got home from the hospital, she grabbed the NG tube and pulled it out, flinging stomach acid all over me. I should have known then that it would serve as foreshadowing for how the next thirteen years would go!
Thankfully, we were able to remove the tube after a week.
As I think back to those days, I also look ahead to what faces us.
When it comes time for her liver transplant, I know that we will face long days in the hospital full of tears, hope, fear, and prayers. The big difference will be that this time, we will be filled with hope.
Hope that although we will be entering a new chapter full of uncertainty, we will be free of the fear that MSUD has caused over the past 14 years.
When I was young, I always hated gym. I was never good at it. The running and the throwing of things was just never my bag. I was always short of breath and sometimes even came close to fainting. I always chalked it up to being a fat little kid who was grossly unathletic.
I lived for ninth grade because I only had to take a semester of gym and then it would be over forever, or at least until I got to college. I finished 9th grade and gladly went on my merry gym-free way.
Fast forward to 2007.
I had been out of high school and was in my third year of college. I began experiencing back pain, the likes of which I had never felt. I finally went to the doctor, and while the Nurse Practitioner was listening to my heart, she looked up and asked “You have a heart murmur, don’t you?”
I had never heard such a thing.
After tests, including one where they sedated me, shoved a “probe” down my throat, and looked at my heart (after which I cried for want of a cheeseburger), I was diagnosed with a regular heart murmur with Mitral Valve Regurgitation (which I described to people as “my heart pukes”) and Sub-Aortic Stenosis.
Some time later (2010-ish) my dad, who has CHD, began having Atrial Fibrilation episodes.
He eventually got in to see the doctor his brothers go to, and we loaded up to see if he could fix my dad’s bum ticker.
The next phase of the story I wrote about earlier in this post. During this time I was re-diagnosed with a condition called Hypertrophic Cardiomyopathy or HCM for short.
All of the things that I had experienced as a kid, all of the shortness of breath while running, all of the blacking out in PE episodes – they all made sense now (granted, they still don’t account for my athletic abilities or lack thereof).
After my diagnosis, I was scared. I began taking my drugs like a good little girl and prepared myself. I scheduled an implantable cardioverter-defibrillator (ICD) implantation for July, the month after my dad got his. I recovered just in time to return to work for the school year, and I am feeling better than ever.
After all of that worry and fear I have come to realize some things.
Not every 25 (almost 26) year old can say that she is battery operated.
Before any of this happened, I used to tell my students that I had a plastic heart; now I (sort of) have a metal one.
I tell people that I am part computer, or even bionic.
I make sick jokes about being shocked all the time.
My dad and I even joke about starting a doo-wop group with 2 of his brothers who have ICDs called The Pacers.
I never knew that having HCM and an ICD could be such a source of amusement. I even love to freak people out by letting them touch it under my skin. There is nothing better than the slightly horrified look on someone’s face when they touch the hard, metal rectangle on my chest.
In the end, the laughter and the jokes far outweigh the fear and uncertainty that I had before I got the surgery.
Plus, I hope that in the 6-10 years that it will take for me to need a replacement, they will have integrated an MP3 player into the device.
My son is now 10 weeks old. He has a congenital heart defect and severe birth defects, limb differences with all four limbs affected.
I’m here now because I have a story to tell, a story with infinite ellipses and a looming question mark. It’s just the beginning of a story, really.
But does the story about my new son start the day he was born? Or the week before when we learned he had profound defects and would likely not survive? Or the start of my pregnancy when I learned he was one of three, two of whom did not remain viable?
I think to get the most understanding of who this boy is, what he means to us, I have to back up even more.
My older children are almost thirteen and nearly six. I joke about the seven year age gap being one of the “best kept secrets” of family planning, but there really wasn’t any planning involved. The big space, while wonderfully beneficial and I wouldn’t change it now for anything, wasn’t the result of careful decision making, but rather inexplicable secondary infertility. I always imagined myself as the wisecracking mom to a passel of feisty kids. I wanted the rowdy chaos of a big family. But my quirky biology didn’t comply.
I lost a pregnancy early in the second trimester, about four and a half years ago. I’ve had a number of very early miscarriages, which were disappointing, but nothing like the devastation of losing one after crossing into the proverbial “safe zone.” That loss resulted in lingering complications. It was a difficult time to live in my own body.
So when I found myself surprisingly expecting back in the early spring of this year, it was hard to believe. It was hard to tell myself that it was true, let alone to tell anyone else. It was too fantastic.
I felt like maybe I could protect the idea of it and make it stay real somehow by not breathing it aloud to others. And then I started bleeding. And I bled constantly for over a month, during which I learned I was losing two tiny embryos. How ironic that years of wonky fertility would find me knocked up spontaneously with three, each in a separate sac? But the irony turned around on itself, like a mobius strip, and it was a pregnancy loss after all.
There were weeks of not knowing if it would be a total loss or not.
When the bleeding stopped, there was one scrappy baby, holding on in there.
And suddenly, I was the caretaker of this tremendous and wonderful news. It was too unreal and too thrilling to me to want to share the news.
How could I tell anyone that I was pregnant and have them possibly understand what that could mean to me? Of course, such knowledge comes up organically, in conversations and double-takes (is she or isn’t she?), and it didn’t stay my sweet secret for long. But, even once the word started getting out, I didn’t make a deal of it.
I didn’t tell Facebook (also, fuck Facebook. while we’re at it.) and I didn’t make any grand announcements.
You’d think if I was so happy about it, I’d want to sing a song from the roof and do a mass postcard mailing, but it was just too precious to expect anyone else to appreciate, and I felt very protective.
Once the high drama of the first trimester passed, it was a long dull slog through ill-fitting pants and raspberry leaf tea and heartburn.
I had delightfully warm and chatty visits with my homebirth midwife; we organized the house and checked off an industrious home improvement To Do list; there was only completely glad anticipation.
I had what I hoped would be my last prenatal appointment on November 2nd, which was also my “due date”. My midwife didn’t feel certain about the baby’s position and had me zip down to an imaging clinic for a quick ultrasound. I had a lot of anxiety on the drive. I was down to the wire, for sure, and didn’t have any time to flip a breech baby.
The ultrasound tech saw right away that baby was head up. I sighed and tried to remain cool.
I’ve got this, I thought. Maybe the baby won’t have the exact birth we’d been planning, but it’ll be okay.
And then the tech asked me to wait in the room. I was confused by this, and called my husband. “Baby’s breech” I told him when he answered, “but it’s a baby in there, not, like a cat or something. I saw the head and I think the hands.” And then he asked me, “the right number of fingers?” And then I had to hang up quickly, the tech was coming back with someone else.
I was introduced, in that small dark ultrasound room, to an older man, the radiologist. He shook my hand and then blurted out, “Your baby has multiple abnormalities.”
He said the baby had deformed limbs, missing fingers, probably missing other parts. I could barely hear him from this whooshing sound suddenly throbbing in my head. I stood up and grabbed my bag. “I don’t know the words to say,” I remember saying. And that’s all I said. I walked out of the room, walked past the waiting area and said to my big girl, contentedly reading a book by a window, “We’re leaving now,” as I walked out the door.
I know by the time I got into the car I was crying. I know that I tried explaining to my daughter why I was crying, except I didn’t know. I know that I called my husband and somehow told him.
I know that my midwife called me and told me not to drive myself home. I know that I told her I’d be fine. I’m fine. It’s fine. Fine.
I know that I kept telling myself I can’t crash the car because I have to take care of my daughter.
I know that by the time I got home, about forty-five minutes away, my husband was also there.
I know that we left almost immediately to the city, where somehow I’d been fast-tracked into an appointment at a maternal fetal medicine clinic for a level II ultrasound and an amniocentesis to see what congenital birth defects that he had.
I know that I cried all the way there.
What happened next is we learned this baby we’d been expecting all along had “significant” and “profound” birth defects, in and out. We learned he was a boy.
We learned that he had syndromes that were considered “incompatible with life.”
Two days after that appointment, we had a consultation with a neonatologist and a meeting with the hospital ethics committee. Maybe you already knew that hospitals have ethics committees, but I did not. By this time, our baby’s file had been shared with a multitude of specialists who carefully analyzed his congenital birth defects.
The neonatologist told us that she did not think it would be unreasonable for us to proceed with an out-of-hospital birth. By which she meant, there is not a lot they can do for this baby, so maybe you just want to spend his last moments peacefully at home.
We were braced for the worst. The best was still very bad. Based on his rare and complex congenital birth defects, all best guesses determined that the likelihood of him having severe neurological impairment was very, very high.
Would he be able to eat?
The ethics committee gave us their veritable stamp of approval, entrusting us wholly with all decisions. We discussed how long we would continue support for our child? What kind of support? I learned the phrase “palliative care”.
There was one week in between my world falling apart and his birth. One week of such deep despair I won’t even begin to describe it. One week of waiting for him to be born so he could die and we could say goodbye.
One week of listening to Pearl Jam’s Just Breathe over and over and over again, like some kind of prayer.
Among our ethics committee approved plan was my insistence on avoiding a C-Section. I don’t suppose that the hospital sees a lot of vaginal breech births. Probably fewer Pitocin-induced vaginal breech births. I also was firm about refusing fetal monitoring. Did I want to hear the heartbeat of a baby who would not live?
And while my other babies were born triumphantly without pain relief of any kind, I assumed I would need something to get me through this dreadful thing I had to do. In the end, though, the drug made labor so hard and fast and intense, I was out of my mind with the hurt of it all and did not have time nor wits to request pain medication.
I say that not out of pride, for there is nothing to be proud about what was the darkest moment of my life, but just to illustrate what an unusual birth it was.
Everything about this boy has been unusual.
There was no tender welcoming a new life into the world. He was zipped across the hall, neonatologist and NICU nurses and cardiologist and geneticist and who the hell else at the ready, to check out his birth defects. I turned my head away and didn’t even want to see him go.
We heard him cry. It was a confusing sound. We thought he would need intubation. It was assumed that his heart defect would prohibit his lungs from working efficiently.
But he was crying.
And they brought him back to me. And they said he was healthy.
And I held his tiny broken body and I nursed him and he latched on better than my other babies latched on as newborns.
And I cried.
I cried because he wasn’t dead and I cried because he was alive. No one mentioned the possibility of leaving the hospital with a disabled baby. How do you even prepare for such a thing? There is no preparation. There is only disbelief.
His stay in the NICU was brief, just over a day, for monitoring. This little champ maintained a near perfect blood oxygen level, despite his heart defect. He’ll need surgery sooner than later to repair his broken heart. The pediatric cardiologist explained it as a common congenital defect, a routine surgery. But in my world, there is nothing common or routine about open heart surgery for a brand new baby.
Prior to this roller coaster, the most serious medical situation my family experienced was that time my daughter had stitches by her eye eleven years ago. How’s that for contrast?
How do I tell you about this baby?
I do not want the sum of him represented by what he is not, what he is missing, the challenges that await us.
But what else is there yet?
His issues are not minor. His bilateral leg condition alone occurs approximately once in every one million live births. He will never walk without serious, invasive surgeries and devices. Amputations. Prostheses.
Do you know what a mindfuck it is to hear such words about a newborn?
Can you feel the weight of this?
My big boy, the bouncy one, the easy-going one, the boy with the casual shrug of his shoulders, mentions his baby brother’s hands like it’s the most obvious, simple thing ever. “He only has three fingers on one hand,” he says, “and two fingers on the other one.” So matter of fact. No catch in his throat. No mourning the loss of future handprint turkeys or making the motions to so many kid songs.
I’m not there yet.
I’ve been looking at and loving on those tiny malformed hands for fourteen days now and it’s still hard for me, even as they tell me “it’s just mechanics” and “he’ll figure it out” and other encouraging platitudes.
I am usually so guarded and private. It’s out of character for me to share so much here, even as I’ve intentionally omitted specific diagnoses (a grouping of several, with no umbrella catch-all for them all together as of this point). But everything is different now. Since we’ve been home from the hospital, I’ve been hiding. A few people have met this surprising baby, but we haven’t yet left the house, save for doctor appointments.
I can’t hide indefinitely. I will have to be brave and bold enough to withstand whatever questions and curiousness occurs when the world meets Ulysses.
He looks an awful lot like his big sister did as a newborn. Same deep eyes, same frowny mouth. When he’s all wrapped up in a blanket, you would never know that he has such serious things going on. And I can assure you that he does not know. Everything else about him is just what you’d expect from any newly born babe. He squirms and fusses.
He makes those mysterious sleep smiles. He flails his arms when a loud sound startles him. His brain seems normal. Everything else about him seems normal.
There is nothing normal about our life now.
We have so many appointments scheduled. He has already had more doctors examine him than maybe my other two children, myself and my husband have ever had, all together. I don’t know how to get used to living such a highly medically managed lifestyle.
It’s been just three weeks since everything changed. So much information to process in such a short amount of time. I’ve blamed myself incessantly, even as I know there was nothing I did or did not do to cause this. That is the absolute truth, and yet, I worry that people will wonder… of course they will. People with murky knowledge of genetics, people who have grown lazy in their own good fortune, people who can’t possibly know how wanted and treasured this little baby has been all along.
Everyone’s delighted that he survived the birth, that he is thriving.
And yes! What a great outcome!
But now what?
Since I wrote that, we have laid out a plan for open heart surgery (soon) and orthopedic surgery (before his first birthday). He is growing plump and smiley.
You are invited to add your child’s name in our wall of remembrance for those babies who’ve been taken from us too soon.
In remembrance of the older children that have been taken too soon, we invite you to share your child with us here.
A few days after my daughter died of an undetected congenital heart and birth defect, someone who had held her and spent some time around her told me, “I knew something wasn’t right with her. I knew something was wrong.”
The phrase has stuck with me.
My daughter was perfect.
I don’t like the word defect much. All of these children born with what we call “defects” are just perfect; they aren’t defective. She had a beautiful heart even though it had a deadly congenital defect in it that lead to her loss.They are the imperfectly stitched handbag sold at a discount. They are much more than their sickness or defect.
I used to think that birth defects only happened to babies of moms that were sick or did something, like smoke crack while pregnant, or to a family with a genetic history of congenital heart birth defects. Smoking crack was never my thing, and my family has no history of birth defects -especially congenital heart defects – so losing a baby to a heart defect wasn’t even on my radar. None of the babies in my family were in the NICU or really sick, and definitely none of these babies had ever died.
My daughter’s heart problems weren’t my fault. She might have been a sick baby, but it was something that happened at random.
Her heart didn’t work properly, but she was not defective.
So it’s time to Band Back Together for Birth Defects. Share your stories. Tell your tales. We need to learn about the birth defects that have touched YOUR life. Let’s rock out and tell the world OUR stories.
It’s YOUR turn, The Band!
I’ve only ever lurked on Band Back Together, but I feel like I need to tell my daughter’s story.
The pregnancy itself wasn’t bad, just the normal aches, pains, and nausea. Emotionally it was tough – there were issues found on ultrasounds, and my OB felt like it was her duty to present the worst-case scenario every time we spoke. I decided that if we had to hear bad news, I wanted it to be delivered by someone who was kind and knowledgeable, so we switched doctors and started seeing a maternal-fetal specialist.
He told us that there would be kidney issues when she was born, but nothing emergent.
My water broke 2 days before my due date. I had a good, quick labor. There was meconium in the amniotic fluid, but otherwise it went well. She was born just after midnight, with good Apgar scores. She weighed nearly nine pounds! She had no interest in nursing, and she wasn’t into the formula they offered, either. A couple hours later, her blood sugar started to drop, and then she stopped breathing. They took her to the NICU for observation. I’d worked a full day before my water broke, so by the time they took her away I had been awake for almost 24 hours. I was sent to a recovery room without my baby.
That day and the next are a blur. This was my first child, and I had no idea what to expect from a normal birth or a brand new baby. I only knew that this was not what I expected. I alternated between recovering in my room and sitting with my daughter in the NICU. She would barely take any food and kept even less down. There were multiple doctors coming in and out and multiple tests being done – blood draws, x-rays, upper and lower GI, etc.
Finally they determined that she had intestinal malrotation. That means her intestines were jumbled and twisted and not anchored in any way. If untreated or undiscovered, it quickly damages the bowels and then leads to death, essentially by starvation. Surgery was set for Friday night, the same time that I was to be released. I had no choice but to hand over my 3-day old baby to be intubated and placed under general anesthesia so that a surgeon could cut open and rearrange her guts.
My husband, my mom, my mother-in-law, and a close friend were with me during the surgery. Around midnight, the surgery was finally complete. They would only allow 2 people in the room with her at a time, so I stayed there while everyone else took turns coming in to see her. I can’t even describe how it felt to see the 3-inch incision across her tiny little belly. She had wires and tubes everywhere, and we were not allowed to hold her. I could tell she was in pain – when on a ventilator, the vocal cords don’t make noise, but I could see her screaming.
My mom and dear friend knew what kind of comfort I needed – they just held me and murmured words of consolation while I tried in vain to keep it together. My mother-in-law was not so in tune with what I needed – she wanted to touch her, and exclaim over her, and it was all just too much for me. I was completely helpless and broken. I had my husband make everyone leave, and then I left, too. I left my silently screaming baby in the care of total strangers, Band. At that moment, I was certain that the nurses could do more for her than I could. Now, when I look back, I am unable to forgive myself for leaving her.
That night turned out to be the beginning of a long journey. She had 2 more surgeries and lots more testing; we found out that she has a genetic anomaly that seemed to be the cause of her birth defects. She was 9 weeks old when we were finally allowed to take her home – just a few days after my first Mother’s Day.
My daughter is now almost 3 years old. She has very low muscle tone and is still quite delayed, and she is a beautiful, happy, easygoing little girl. She wears her battle scars with no complaint, and despite my failings, she loves me completely.
She is my ray of sunshine.
Every month, I hoped that I was pregnant. Despite endless ovulation predictors, pregnancy tests, and prenatal vitamins, I never was. I just knew that I was pregnant during my cousin’s baby shower because I was a whole five days late. I was not. I started my period during the baby shower. I cried in my car alone the whole way home.
After two-and-a-half years of trying to have a baby the old-fashioned way – you know, by relaxing – we turned to science for help. Extensive tests and a passionless affair with a tool we called the dildo-cam (wand ultra-sound) determined that my husband’s swimmers were on, as he so eloquently puts it, on sabbatical. Our doctor felt that IVF (in-vitro fertilization) with ICSI (intracytoplasmic sperm injection) was our best bet at baby-making.
I didn’t have much hope for our IVF cycle. We transferred two embryos and none of the remaining eleven made it to the freezing stage so I thought I had a couple of duds in my uterus as well.
I ended up pregnant with twins on our first try.
I was shocked. After all the single lines on the pee stick, I never thought I would see two. I am not an optimist. That mother fucking glass is half-empty because some slag took a big gulp from it when I was taking a pee on one of the endlessly negative pregnancy tests. I didn’t even pee on a stick until after I had my blood drawn at the doctor’s office to see if I was pregnant.
I found out I was pregnant in a Fred Meyer bathroom across the freeway from our clinic.
Holy hell was I sick. I was not a beautiful, glowing pregnant person. I was a lanky-haired puking pizza-face. I puked starting at six weeks and didn’t stop until the day I delivered. I even puked when they were sewing me up from my C-section. For all the trouble I’d gone through to get pregnant, I’d hoped for an easy pregnancy.
During an obstetrics appointment, my doctor heard one of the babies heart skip a beat, which freaked me the hell out and warranted an appointment with a heart specialist within the week.
The visit with the heart specialist was short and sweet. It turned out the skip was in my daughter J’s heart and was chalked up to a momentary “short circuit in her electrical system.” So, in essence nothing to worry about, crisis averted for now.
Other than a brief stint of pre-term labor at 34 weeks, which put me on house-arrest, everything went smoothly until delivery day at 37.2 weeks.
The day I heard the most horrible sentence ever: “there’s something wrong with your baby and we don’t know what it is.”
I had a scheduled c-section at 37.2 weeks. Things went well at first. The doctor first pulled out Baby A, my son G, giving him a black eye in the process because he was lodged deep in my pelvis.
Next came Baby B, my daughter J, and the room went silent.
I didn’t notice this until a little later because I was busy trying not to throw up as they put me back together. I did not succeed.
In recovery, where I was shaking like an alcoholic coming off a three-day bender, a nurse asked me if anyone had told me about my daughter. She went on to tell me that there was “something” wrong with my daughter but no one knew what it was and they were trying to figure out if they were going to have to emergency transport her to the Children’s Hospital sixty miles away.
I had no clue what she was talking about. My recovery nurse shot daggers at the big-mouth as she called the anesthesiologist for more anti-shake drugs, which is the technical term according to my redneck ass, because the shakes kicked into overdrive again. The on-call pediatrician came into the recovery room and said basically the same thing as big-mouth, and added that my daughter had some sort of skin covered tumor the size of lime on her tiny 5 pound body at the base of her spine. The pediatrician had a call into Children’s to find out what to do because she had never seen anything like it.
Because her tumor was covered with skin, she didn’t have to be transported, so she stayed with us and was able to come home. Two weeks later, we went to Children’s to find out what was wrong, little did I know it would take six months and three neurosurgeons to identify what her defect was and what to do about it.
At the two weeks of age appointment we found out she had a neural tube defect (NTD).
We were told that she had one type of defect called a myelocystocele (hernial protrusion of spinal cord through a defect in the vertebral column) only to find out that she had a different kind when she had an MRI at six months of age. If really sucks to think your kid has one thing and to have made your peace with it to find out it is something else.
At six months of age, we now had an official diagnosis of lipomeningocele: which is a fatty tumor that attaches to the spinal cord, tethering it and not allowing it stretch as the child grows it. Lipomeningocele have a 1-2/10,000 occurrence rate.
During the MRI we also discovered that she has a bony defect in her left ear called an enlarged vestibular aqueduct that could cause her to go spontaneously deaf in that ear. I lost faith in the neurosurgeon that made the initial diagnosis, so I made it my mission to find the best tumor neurosurgeon in the country and I did.
I found him at Johns Hopkins and sent him J’s records. He agreed with the diagnosis, but not the treatment plan of the original neurosurgeon.
The original neuro, we call him Dr. Asshole around here, wanted to wait until she showed symptoms of nerve damage. The nerve damage symptoms, which are irreversible, include loss of bowel and bladder control and mobility; anything below the lesion could cease functioning. Dr. Johns Hopkins told me to call up his colleague Dr. Awesome, who was the head of neurosurgery at our Children’s Hospital. Dr. Awesome used to be the head of Johns Hopkins.
If I hadn’t been in such an unbelievable fucked up state of, oh my god I have twins and something is wrong with my daughter and how the hell do I do this? I am sure I could have figured out who the best doctor was, but I didn’t and I am glad that I had someone do it for me.
Dr. Awesome is the man.
He basically looked at me, blinked a couple of times and said, “We’re doing J’s surgery as soon as we can get the special instruments from the university.” There was no waiting to see if she would have nerve damage, it was take action now. I love Dr. Awesome. Yes, he is a typical neurosurgeon, so he lacks a little personality, but he’s a great doctor that does not fuck around.
J had surgery at ten months of age and did amazingly. The 4.5 hours she was in surgery were some of the most terrifying of my life and she had to stay in the hospital on her stomach for five days, which was not so fun. She had learned how to stand the week before her surgery and that is all she wanted to do. Did I mention she is also a crazy maniac? She broke the Styrofoam board that held her arm straight for her IV and ripped it out, then they put it in her foot and she ripped that out too.
At two years old, J has full use of her legs, with only slight nerve damage on the left that hasn’t caused any issues yet. She may be looking at a leg brace at some point, but we will deal with that if it occurs.
She has seven specialists that we see every six months that track her progress. They’re all impressed as hell with how well she’s doing. Her left ear does have some slight hearing loss in the low tones, but it’s another thing we just watch.
We watch a lot. I check her toes every morning to make sure they aren’t curling under. I analyze her walk several times a day. I am obsessed with her bowel movements and how much she pees because bowel and bladder function could be the first to go.
I repeat the mantra “life altering not life ending” to myself every night. I cry almost every week. I am thankful for the people that have been there, that have let me talk or not talk. That banded around me from all over the country to help me breathe. I try to stop worrying about the future. It is the hardest thing for me to do.
I worry school and questions about the huge scar on her back. I don’t want to have to explain why she can’t head a soccer ball, be tackled or slide into first base. I don’t want this for her. For a long time I felt like I caused this by doing IVF. It sounds insane and my therapist helped me see that. We spend at on average two days a month at Children’s which helps put things in perspective for me. Seeing a mother carrying a plastic tub for her teenage daughter who has a scarf wrapped around her head is a big slap of reality.
Life altering not life ending.