Just before she turned 2, after what seemed like endless tests, appointments with multiple doctors, and consultations with several specialists, Paisley Alexander was diagnosed with a rare genetic disorder: Schwartz–Jampel syndrome.
But doctors knew when Paisley was still in the womb that she would have health issues. Some even suggested abortion. Her mother, Stacy, refused that option.
Today, Paisley is 6 years old. In a typical six-month span, she has as many as 10 doctor appointments. “Since May, we’ve had seven,” Stacy says. “Pediatrician, ENT, neurosurgeon, MRI and CT scans, modified barium swallow study, pulmonology and cardiology clinic with echocardiogram and EKG.”
Paisley has chronic lung problems, repetitive pneumonia and respiratory illnesses, and severe obstructive sleep apnea. “She is on CPAP at night with one liter of oxygen,” Stacy says. “Her SATs drop down in the 60s and 70s throughout the night, and, over time, the oxygen deprivation could affect her organs, mainly her heart. She has a rare form of cardiomyopathy called left ventricular non-compaction, meaning she has extra muscle fiber/tissue in the left chamber of her heart that could cause blood clots. Twenty-five percent of cardiomyopathy LVNC patients end up needing heart surgery.”
The “medical chaos” they’ve endured in the first years of Paisley’s life has ranged from conflicting diagnoses to several “fevers of unknown origin” where Paisley would run fevers up to 105 with no indication of viral or bacterial infection. This would result in hospital stays, sometimes up to two weeks, running tests and trying to pinpoint the cause. Paisley has undergone speech therapy because of her cleft palate, occupational therapy, and physical therapy — the latter two once a week.
These days, Stacy says, “She is better overall — getting bigger and stronger. We haven’t been in the hospital since last July. The most pressing issue now is her frequent cold/cough. She just never really stays well.
“And we have to keep her cool. Being hot is dangerous for her — it makes her work harder to breathe, which speeds up her heart rate and could potentially cause cardiac arrest. Because of the oxygen deprivation, the option to give her a tracheotomy is being discussed among her ENT and pulmonologist.”
Today, despite her medical struggles, Paisley is high-spirited and vibrant. She attends first grade in Olive Branch, Mississippi. In August, she was the recipient of a beautiful, hand-built backyard playhouse from Make-A-Wish Foundation.
Paisley is a miracle in more ways than one, and Stacy wants to share some of the ups and downs of their journey. — Shara Clark
A Special Mom’s Journey
by Stacy Alexander
It wasn’t until my 20-week ultrasound, at age 29, that I realized you could grieve even though no one had died. Hearing the news that there were abnormalities that could result in death after birth or that my child could possibly be born and have no quality of life was devastating in itself, but it was more than that. I already had a little boy who was perfect in every way. I was married, and we were pregnant with what was supposed to be our perfect baby girl. The image of a happy, healthy family was etched in my mind, almost like a memory, as if I had already seen it. Life was going to be wonderful. I had a great job, made good money, had plans to buy a bigger house as soon as my daughter was born, and we were going to live happily ever after.
The moment we found out there was something wrong with our baby girl, our world crumbled. We had major decisions to make. We were told that terminating the pregnancy would be our best option because, more often than not, babies with such abnormalities have no quality of life if they survive. We could choose to do amniocentesis to test for certain things and risk miscarriage, or we could have the baby and risk losing her at birth. My picture-perfect family was gone. I grieved through the rest of the pregnancy, not only for the loss of that dream, but also for the loss of the life I’d always known because, no matter the outcome, my life would be forever changed.
For nearly the first two years of Paisley’s life, we were told she had a form of dwarfism called Kniest dysplasia. I learned everything about it — the basics, the complications, and associated risks. Because I researched so much, I was able to identify some things that didn’t quite add up. I questioned her genetics doctor about my concerns, but she stuck to the diagnosis. I pushed to see doctors at Nemours/Alfred I. duPont Children’s Hospital in Wilmington, Delaware, who specialize in dwarfism and rare syndromes. Her medical history was sent to them, and they agreed to see us. It was December 2014 when we found out that Paisley has Schwartz-Jampel syndrome. This diagnosis was so rare that there was very little documented on it, and the risks involved were greater.
Fast-forward to today, and I am still grieving. Only for different things now. The loss of what I dreamed no longer bothers me because what I gained in its place is worth so much more. I found a new normal in all the medical chaos. Do I wish my daughter didn’t have special needs? Sure. Do I wish she wasn’t disabled? Absolutely. But there’s beauty in all of it, too — a humbleness I wouldn’t have come to know if she was a typical child. She brings such joy to me and everyone who meets her. She is sassy, determined, and beaming with personality.
I now grieve for all the adversity she’ll face in life. It breaks my heart every time she wants to play with her brother or other kids and she can’t because she isn’t physically able. She’ll never know the joy of things like running, swimming, jumping on a trampoline, riding a bike or scooter, playing sports (independently, anyhow). All I can do is remind other kids that she wants to play, too, and likes to be included.
“I’m not a superhero. I’m not inspiring. People just don’t realize that when it happens to you, you have a choice to either fail or rise to the circumstances and do what you have to do.”
I grieve for the uncertainty in some of her diagnoses. In February 2017, Paisley was diagnosed with cardiomyopathy LVNC (left ventricular non-compaction) and diastolic dysfunction. It was one of the scariest days of my life. She could go into cardiac arrest at any moment. Of course, the same uncertainty revolves around each of us, but when it’s your child and there’s no cure, it breaks you. You become the mom or friend in a group that no one can relate to. It’s isolating.
Luckily, I have people in my life who have stood by me, and I’m forever grateful for their love and support. But there’s still a void — not having that common ground with someone else. Looking around at a playground or seeing my friends’ kids, the same age as Paisley, makes me sad, jealous, angry, and confused. I wish my baby could run and play. I wish people didn’t stare at her or ask me, “What’s wrong with her?”
One of the hardest parts of special-needs parenting is advocating. I can’t tell you how many doctors I have had to correct because they didn’t do their homework on Paisley. Having her made me feel like a med student. I was learning so much about all sorts of medical conditions and terminology. Hanging on to everything that every single doctor told me — constantly looking stuff up and researching on my own.
At one point, we had 12 doctors we followed up with once, twice, or three times a year. The appointments were constant. And it seemed as though every appointment held more bad news. I would adjust to a new diagnosis only to go to another doctor and get another one, or worse, doctors would give conflicting information and rely on me to communicate what other doctors were telling us.
It was hard work, but you do whatever is necessary for your child. So I took notes and shared the info as I went along to other doctor appointments. You absolutely have to advocate for your child. Some of these doctors see so many patients in a day, your child can become another number. We’re grateful for the few great doctors we’ve had — for their genuine interest in Paisley and willingness to learn about her syndrome and all that it entails.
I’m not a superhero. I’m not inspiring. People just don’t realize that when it happens to you, you have a choice to either fail or rise to the circumstances and do what you have to do. I’ve learned to be grateful for the troubles we face because I’ve encountered so many other kids and families with stories and journeys much more intense than ours. Having this mindset helps me get through some of our biggest struggles. All of this has opened my eyes to the fact that life is fleeting and precious. Every day is a gift. I look at my daughter and consider everything she’s gone through in her short six years and I’m reminded that I am blessed and have no room to complain because she is such a bright, positive spirit. It’s all about perspective.
According to the National Institutes of Health, Schwartz–Jampel syndrome (SJS) affects bone and muscle development. Signs and symptoms of the disorder include:
- Short stature and bone abnormalities, such as a short neck, outward-bowed chest, curved spine, hip deformity, and fragile bones
- Joint deformities that affect mobility
- Muscle abnormalities, such as an inability to relax muscles, increased muscle size, and muscle weakness
- Characteristic facial features, including a “fixed” expression; a small, puckered mouth; a small lower jaw; and eye abnormalities
- SJS is caused by mutations in the HSPG2 gene. Most cases are inherited in an autosomal recessive pattern. To have the disorder, a person must have a mutation in both copies of the responsible gene in each cell, and inherit one mutated copy of the gene from each parent. Each parent is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms.
Source: rarediseases.info.nih.gov