The personal experience that inspired the book - My Scar is Beautiful
We hope that by sharing her story we can help others recognize the signs, save more lives, and bring awareness to Congenital Heart Defect (CHD) and ALCAPA. When we first found out, we researched and didn't find any personal stories about ALCAPA. We hope we can be that positive resource and success story for another family.
What is ALCAPA?
E was born with a CHD called ALCAPA (Anomalous Left Coronary from the Pulmonary Artery), an extremely rare condition (effecting 1:300,000) live births. This is where the left coronary artery, which carries blood to the heart, begins from the pulmonary artery instead of the aorta. In a normal heart, the aorta takes oxygen-rich blood from the heart sending it out to the rest of the body and the pulmonary artery takes oxygen-poor blood from the heart to the lungs to get oxygenated. However, as was in her case, when the blood that reaches the heart does not get as much oxygen as it should, the heart muscle becomes damaged and cannot pump effectively, causing the heart muscle to weaken or die. This can produce low-grade heart attacks. ALCAPA does not present until after birth and usually at the earliest around 8 weeks of age, because in utero, blood and oxygen come from the mother. We are beyond lucky and forever grateful that we caught it as early as we did, at 8 weeks!
Some ALCAPA facts:
ALCAPA is extremely rare and affects 1 in 300,000 live births.
If left untreated, about 90% of patients die by the time they are a year old.
The only treatment for ALCAPA is open-heart surgery.
It is not associated with any syndromes or non-cardiac conditions/disabilities.
ALCAPA cannot be diagnosed during pregnancy as coronary arteries cannot be detected in utero.
If caught early, many kids don’t have any restrictions in school, activity or sports.
Because it is so rare, it often goes undiagnosed and many die of slow heart attacks before their 1st birthday, with parents unaware of their condition. Most just assume it was SIDS (Sudden Infant Death Syndrome).
E also had severe Mitral Valve Regurgitation from the damage caused from ALCAPA. The mitral valve is located between the left atrium and the left ventricle. When working properly, the valve opens up and allows blood to flow out of the atrium, into the ventricle. Mitral Valve Regurgitation is when the valves, called leaflets (I like to think of it like pinball flippers) don’t seal as they should and blood leaks in reverse back into the left atrium. This excess pressure and flow can lead to enlarged hearts, strokes, and/or heart attacks.
**List of the WARNING SIGNS**
We started noticing these signs when she was about six weeks old. While individually these symptoms may not be too alarming, combined I think they should be taken seriously. She stopped acting like herself when:
Suddenly stopped liking tummy time
Dry cough (The only time WebMd told us a cough was nothing)
Falling asleep during feeds
Crying during feeds
Breathing from her belly
Blowing lots of mouth bubbles uncharacteristically
Fussiness (often written off as colic but this was something new for her)
Slow/No weight gain
TLDR; E was diagnosed with ALCAPA at two months old, just about the earliest it can be detected. She had two open-heart surgeries in as many months and spent 73 days in the hospital. It was a nightmare that wouldn't end. We're thrilled to report, by the time she turned one, she was off of all cardiac medications and thriving! She is now a brilliant, happy, easy-going, articulate, kind, healthy, and active little girl. Aside from her scar, looking at her, you would never know what she has been through. Her mitral valve regurgitation is now mild! There is a possibility she may someday need another surgery, so we will continue to monitor her heart function and stenosis and hope that day never comes.
The long story:
We went to her two-month pediatrician appointment on Wednesday, September 16, 2020 and unbeknownst to us, she had a 'mild' fever ranging 99.4- 100.2 so we were sent home without vaccinations and told to monitor her. Even though an infant fever isn’t alarming until 100.4, mom felt 100.2 was close enough and we went to the ER anyway. Mom had to go alone because of COVID-19. After hours and hours of scans and testing, and everything coming back negative, the on-call ER doctor, Dr. Freedman, heard a murmur and told us to return to our pediatrician the next day. We'll never know what caused her fever that day, but we’re beyond grateful for it and that Dr. Freedman was on call that night. By catching it early, he prevented any further damage to her heart and saved her life that night.
Our pediatrician confirmed the murmur, who sent us to a cardiologist on Friday, who diagnosed the ALCAPA. In a terrifying and emotional whirlwind, we were sent straight to the hospital and began prepping for emergency open-heart surgery for the next morning, Saturday, September 19, 2020. At the time, those two weeks at the hospital were the longest of our life, but it turned out that was just the beginning.
We would have done anything to complain about things first-time parents of two-month-olds complain about, like sleepless nights or stinky poopy diapers, instead, we advocated for and watched our dying daughter fight for her life. We had sleepless nights worried she wouldn’t survive the night, or wouldn’t come off the ventilator, or oxygen cannula, or that she’d never eat without a feeding tube again. Seeing her fight for her life was no joke, literally my biggest fear come true. By the end, I got physically sick with suffocating throat aches and eczema from the stress. But I am jumping ahead here.
We slept at the hospital every night, never leaving her side for 16 days. The doctors prematurely discharged her, getting our hopes up that it was over, because three days later we returned to the ER. She was barely eating 40 MLs. When we returned, they attempted to use nutrition to heal her mitral valve and “hoped” it would improve on its own, but that wasn't working and it was too much for her heart to handle. Her vitals were failing and she was dying before our eyes. She was still in heart failure and rapidly getting worse. We had known another possible surgery could be years down the line, not days.
Knowing the only way she would survive another day, we made the difficult decision to have another immediate surgery and asked to transfer to Johns Hopkins - Baltimore. Once at Hopkins, we made another difficult decision to delay the surgery for a full week. She spent the week intubated on a ventilator to improve her vitals and allow her body time to rest and recover from the trauma of the first surgery. This was all to hopefully set her up for a successful, second surgery on October 19, 2020, exactly one month later from the first. This time, the surgery was to repair her mitral valve regurgitation and redo the previous surgery.
A mitral valve “repair” involves fixing the existing valve, while a “replacement” means putting an artificial valve in place of the damaged, old one. A replacement is temporary and would require surgery again as the child grows. Dr. Mettler, the cardiac surgeon, was thankfully able to “repair” E's mitral valve so hopefully, she won’t need surgery again, but with CHD, there is no cure, so it’s still a possibility.
We (and more importantly our daughter) had to go through it ALL over again, all of it. This time was significantly harder on her body, and more difficult to recover from. Being on a ventilator and extubated three times in a month, took a serious toll on her throat. She was on heavy opioids like Fentanyl and this made her throat muscles too relaxed which made it difficult to swallow. She was on a feeding tube (ng tube) to eat and we had to wait several weeks for her to properly be weaned off the opioids, for her throat to heal, and to learn how to eat safely, without aspirating. Both her first Halloween and Thanksgiving were spent in the hospital. Around mid-November, mom took her outside for fresh air for the first time in almost two months, and she must have said “Wait, what? There is life outside this hospital!? Get me outta here!” and she began eating her bottle like a champ almost immediately. Up until the day before we were discharged, we thought she was going home on an NG feeding tube, but we didn’t! She was able to successfully eat full meals on her own. We finally left the hospital Tuesday, December 1, 2020. 73 days from when this nightmare began.
On top of all this, was COVID-19. This made everything more complicated and stressful being in a hospital during a pandemic. Around Thanksgiving, cases were increasing so the hospital stopped letting both mom and dad be there at the same time. This was brutal. In fact, mom got escorted out of the hospital by security for trying to spend Thanksgiving with E and daddy.
Despite all she’s been through, E wakes up every day smiling. She is healthy and growing, happy and so incredibly smart, and easy-going! She amazes us every day. She is strong, hilarious, and thriving. She’s the light of our lives and we couldn’t be more grateful or proud of her. By one she was off all of her cardiac meds. By two she knew her alphabet, numbers, shapes, colors, animals, and was speaking complex sentences at a 4 or 5 year old level. If you didn't know, you wouldn't know at all what she's been through!
As first-time parents, everything is scary. But this experience taught us a lot about what is truly important and put life into perspective. The small stuff just doesn’t seem so big anymore. When other kids get sick or injured, you worry if it was something they ate. We worry about all that PLUS if it is because of her heart. Every time she panic-cries, a part of us wonders, if it is her heart hurting her again. Every passing day gets a little easier but it's always a thought.
We will see to it that she will not be defined by her condition; she will be and is stronger for it. It is simply something she will have to live with and monitor, forever. We’re told she will be able to do things just like her peers. Maybe she won’t be an Olympic weight lifter or sprint runner, but she can do and be whomever she wants. We love her and are just grateful she’s alive.
E's experience inspired My Scar is Beautiful. We want her to grow up proud of herself and her scar and all she has overcome. We know she is not alone. We hope this book and her story encourages anyone with a scar to be proud of their scar and that it serves as a reminder of all the reasons to love their scar!
THE HARDEST PART:
I was recently asked what the hardest part about caring for a child who has CHD/ALCAPA is and I want to share my thoughts as I know with how we felt, we were not alone.
Having a child with this diagnosis is something we live with and literally think about every single day. It's hard because many people see her now and think because she is doing well or because she had her surgery, she is cured or that its over and just a thing of the past.
Watching our child fight for her life, or go through drug withdrawal and recover was immensely difficult.
Being a parent is hard, regardless if your child is healthy or has a heart condition. Being a first time parent is challenging. Being a first time parent and going through this WHILE also physically recovering from birth and all the hormones of postpartum, Then to have this, 2 heart surgeries and be in the hospital for 73 days is more than painful and unbearable. While it doesn't diminish what other parents are going through, for a long time it was hard to hear other's complain about everyday normal baby issues, like my baby spits up or hasn't learned to crawl yet as if it were life and death and here we were literally facing death and she was fighting for her life.
Once we were released from the hospital, the subsequent cardiology appointments were terrifying. Even when the doctor cleared us to come every 6 months, it was too much time between appointments and I couldn't do it, so we went back every 2 to 4 months.
We did a lot of research about ALCAPA and found there wasn't much out there because it is so rare. We felt alone and scared and didn't know if she'd be 'normal' or be able to live an active life and keep up with the other kids. Were doctors just telling us she'd be like the other kids just to calm us in the moment or telling the truth?
Long term, while she's healthy and active, will she live a full, long, life? Any new medication, new procedure, activity, we have to stop and think if it will impact her heart. Everything we do we stop on and question if it will impact her heart. I think having a child with this diagnosis is difficult but then being that this came during COVID everything was exponentially more difficult. She didn't go to daycare or do typical mommy and me classes and we restricted family & friend visits. We were worried about going anywhere for fear getting COVID and if it would have a rare impact on her heart and we worried about getting her the vaccinated but it has helped reduce my anxiety so much knowing that she is more protected and it didn't have any impact on her heart. She got her 3rd COVID shot in September 2022 and I couldn't be more excited.
**IF YOUR CHILD RECENTLY WAS DIAGNOSED WITH ALCAPA***
If you would like to talk to someone who has been there, PLEASE EMAIL CARYN.
I know it doesn’t seem like it right now, because your world is hurting. At some point, in the not-so-distant future, things WILL be okay. Never quite normal like you may have imagined, but what is normal? This is your new normal of monitoring the heart and condition. But take it from someone who had a hard time hearing this at the time, things will get easier and much less scary. Things will be okay. I am here to chat if you need a friend.