Leah Valerie: Due July 4, 2013. Born May 8, 2013. 3.5lbs, 16.14in, 10 fingers, 10 toes, 47 chromosomes. Oh – and 2 mommies.
My wife Mandy and I (Lisa) have been together nearly twelve years. After scraping through undergrad, grad school, new jobs, more grad school, and more new jobs, we decided it was finally time for us to begin our family. I was going to carry our first child, but my health prevented us from proceeding in that direction. Through a confluence of events that I can’t even begin to lay out in a blog, the opportunity arose for Mandy to carry my biological child. We seized the moment and half a year later, Mandy was pregnant with our first child, due July 4, 2013.
At about 20 weeks, we learned that our baby had a 1:52 chance of having Down syndrome (known more scientifically as “Trisomy 21”). A few weeks later we received test results confirming with 99.9% certainty that our baby did indeed have an extra copy of chromosome 21. Shortly after that, we discovered that she might have a blockage to her stomach. Arrangements were made for Leah to be born at a bigger but more distant hospital since we believed she would likely need surgery shortly after birth. In the mean time, we took Bradley classes because Mandy hoped to give birth without an epidural or other pain medications.
There’s an old Yiddish expression – “Men tracht un Gott lacht” – people think (or make plans) and G-d laughs. Nothing went quite according to plan, as you can read in this blog’s introductory post. Baby Leah Valerie (a.k.a. LeahBug, BabyBug, Lambchop, etc.) showed up two months early, on May 8, 2013, and arrived via crash C-section on account of the little toes she tried to dip into the world before jumping in.
Leah does indeed have Down Syndrome. As we learned in the days after her birth, she also has esophageal atresia, which means that her esophagus and her stomach do not connect. Leah’s form is particularly rare; not only do the two ends not connect, but a very long portion of the esophagus simply isn’t there. This makes for a much more complicated surgical repair. Only about 2 to 5 children are born in the US each year with Down Syndrome and this form of esophageal atresia (Type A or “long-gap”). Leah is truly one in a million.
Until the atresia was repaired or she was able to swallow, Leah could not go home due to the potentially-fatal risk of aspiration pneumonia. Leah weighed less than 3.5 lbs at birth. Doctors initially estimated that she could undergo a repair at 10 lbs (about October 2013). A few months later, they advised us that they would operate on November 1, but if they had to abandon the challenging and complex procedure they had planned, Leah could be up to a year old before she was ready for a primary repair. Additionally, because she has Down Syndrome, her recovery from surgery would likely take longer than it would for a typical baby. Her doctor estimated that she would likely remain in PICU for at least a month after surgery, possibly two or three months depending on her progress.
Leah’s surgery took place on November 1, as planned. Miraculously and through the hard work and skill of her surgeons, the surgical team was able to connect the two ends of her esophagus without having to resort to the complex procedure they had initially anticipated, which would have kept Leah fully paralyzed for up to two weeks.
Leah had a rough time early in her recovery from surgery. Doctors removed her from the ventilator after five days, but she was not able to breathe sufficiently for herself, and the standard supports and interventions that would ordinarily take place would have jeopardized her surgical site. After 12 hours of struggling to breathe, Leah was intubated again and remained on the ventilator for several more days, followed by several weeks of CPAP, high-flow oxygen, and eventually regular oxygen. After the failed extubation, it was discovered that Leah had laryngomalacia (a floppy larynx) in addition to her existing tracheomalacia, as well as some vocal cord nerve damage from the surgery. It took nearly a month for her voice to return.
Leah remained in the hospital until her discharge on November 27. After another week and a half at Ronald McDonald House, she finally came home on December 8, 2013, her 7-month birthday.
Leah left the hospital on oxygen, continuous feeding via g-tube and feeding pump, and without the ability to feed orally. Her recovery will be a long-term ongoing process, but once she was medically stable, her doctors’ priority was to get her out of the pediatrics unit before the onslaught of winter cold, flu and RSV cases on the floor; with her respiratory weaknesses Leah would be at serious risk if she were to contract an infection.
We started this blog as a way to keep family and friends apprised of Leah’s condition in the days immediately following her birth. Since then it has become an outlet that allows us to share our joys and struggles during this difficult time in our lives. We have been staggered by the outpouring of generosity, support, prayers, happy thoughts, amusement at our silly baby photos… really, we could not ask for a better crowd of cheerleaders for our little Bug. Thank you for sharing this journey with us.
Since our prenatal care providers did more in-depth screening once we knew Leah would have Down Syndrome, we were aware that Leah would need surgery after birth – but we were totally caught off-guard when her doctors told us she would likely be in the hospital for 5 months before the repair could even begin, and that wasn’t even accounting for recovery time. We didn’t know what to do but we knew we needed to be by Leah’s side. It was a difficult situation. As a state employee Mandy did not receive the state-funded disability and maternity benefits that keep most California workers afloat during times of pregnancy, parental bonding time and family medical leave. Additionally, two days before Leah was born I found myself in the emergency room due to a neurological condition that causes stomach paralysis. I lost 50 lbs in just a few months and was too sick to work. In September I had an abdominal surgery to help me manage this difficult condition, and thankfully after a while I stopped losing weight and have been able to start eating some solid foods again. But for a long time after Leah’s birth, I was very ill.
In response to our precarious situation, a dear friend started a GoFundMe page to help defray the costs of staying nearby the hospital, including temporary housing and related living expenses as well as our existing financial obligations. Thanks to the generous outpouring of contributions from our friends, family, community, and even perfect strangers, we were able to be by Leah’s side throughout her stay in the intensive care unit. We know that not everybody is so lucky; we met parents who, due to family and work obligations, were only able to see their babies for a couple of hours a day or even just a couple of days per week. Thanks to you, Leah never saw a day go by that didn’t include her Mommies by her side (or at least one mommy, when I was going through and recovering from surgery!). We will be grateful for that gift forever.
Now that Leah is home, a whole new part of our journey is beginning.
Leah needs extensive day-to-day care; she uses oxygen at night but needs to be monitored for apnea during daytime naps, she feeds through her g-tube using an electric feeding pump, and she is on multiple prescription medications and breathing treatments. In addition, she requires frequent speech, physical and occupational therapy visits so she can learn how to feed by mouth, as well as infant stimulation to encourage her development. She has a minimum of seven appointments per week and sometimes up to twelve. Even on days when she doesn’t have appointments, Leah is prohibited from attending daycare with other children due to the risk of exposure to respiratory infections that could escalate into pneumonia. Since Leah has a “floppy” respiratory tract (tracheomalacia and laryngomalacia) as well as a congenital heart defect, we’ve even been instructed to keep her away from other children who are in daycare programs where respiratory infections have been reported.
Although Leah’s primary repair is completed, Leah’s dual diagnosis of esophageal atresia and Down Syndrome can mean years of complications. Because of Leah’s Down Syndrome, she has poor coordination and low muscle tone, so learning to suck, swallow and breathe all at once – something that comes naturally for most of us – will be a big challenge for her. Additionally, as Leah begins to learn oral feeding, we will need to monitor her vigilantly to watch for two potentially life-threatening complications that can arise: Aspiration and stricture.
Aspiration occurs when foreign material is inhaled into the lungs, leading to infection (aspiration pneumonia). Leah experienced aspiration pneumonia due to inhalation of her own saliva while she was in the NICU, and it was a very scary experience. An infection could be even worse in the presence of foreign materials like breast-milk or pureed foods. We’ve been instructed to take Leah’s temperature daily to monitor her for fevers since that would be a warning sign for aspiration-related infection.
A stricture is a narrowing of the surgical site (the site where her esophagus was connected) which can cause choking and vomiting. A stricture is treated with insertion of a balloon into the esophagus (under general anesthesia) to dilate (re-widen) the narrowed spot. Some children with EA never have a stricture. Others go in for multiple dilations per month. Plenty more only experience this scary condition once or a few times during their recovery. In February we discovered that Leah had a severe stricture, which has proven to be persistent. She has had ten dilations and at present these procedures are scheduled every two weeks.
We appreciate every contribution to the GoFundMe account. Your generosity helps us continue to stay by Leah’s side throughout her treatment and therapy for this rare and complicated condition.
BabyBug has a long way to go, but she’s come a long way already!