Real life Down Syndrome Awareness
I had a mother reach out to me and suggest that a topic I might want to explore on the site was the topic of Infantile Spasms and Down Syndrome.
I am in a number of facebook groups for parents of children with Down Syndrome and this was not a term unfamiliar to me, however, the extensive research that would be done by a mom in this situation was not something I was yet familiar with. That’s when I did what I do best…I asked a mom to tell her story.
Its been weeks and the Coronavirus is still on the forefront of the minds of many, especially those in the Down Syndrome community. As parents and loved ones we worry about our children on a day to day basis, but the introduction of coronavirus has taken the worry to a whole new level, especially as it relates to Coronavirus and Down Syndrome recovery statistics, let’s face it, there is not a lot of information out there. The one thing I really love about this community though is our desire to help one and other through the tough times. So, as there have been cases of Coronavirus among our ranks, parents are willing to share their stories so we can learn to not be so fearful. Here is yet another mother who shares the story of her son as it relates to Coronavirus and Down syndrome recovery success.
I’m very much the person who knew she wanted to be a mom from an extremely young age. I have vivid childhood memories of tucking my dolls and stuffed animals into bed at night, making sure to read just the right number of stories and singing the perfect lullabies. When I got to the age that adults around me began asking what I wanted to be when I grew up, everything was sort of hazy, except I knew that it would involve kids.
At 27, I found myself in a committed relationship, with a stable job, two dogs, and an unplanned pregnancy.
For weeks, I thought I was rundown from working fifty-plus-hour weeks as a retail manager, running around during the peak season every day and getting home in time to collapse into bed, too exhausted to think of much else. We were moving and I couldn’t bring myself to pack, and then my mother showed up to help… with a pregnancy test.
I was well into my first trimester at that point, far enough along that I got to hear the baby’s heartbeat at the first appointment, and have bloodwork done at the next. I remember the nurses running through the list of tests that were going to happen, and touching lightly upon genetic abnormalities, “but we don’t test people your age for those.” The definition of type-A and a lover of all things planned, if insurance would pay for it, I wanted to know.
A week later, as I was driving home from work, the phone call came. After that, weeks of genetic counseling, an amniocentesis to confirm, followed by months of specialists and monitoring the two heart defects present, both common in babies born with Down syndrome.
My Jack was born on February 25, 2015, and spent seven days in the NICU at Brigham and Women’s Hospital, across the skywalk from Boston Children’s. He was monitored for oxygen saturation levels, and released with the promise of many cardio follow-ups. He was discharged from cardiology a year later, never having needed surgical intervention and heart-healthy as ever. That day it really felt like the scariest, most difficult hurdle had been conquered.
The next few years would bring minor surgeries, the identification of moderate hearing loss in one ear, and several hospitalizations for pneumonia—averaging as least once per winter (twice the first year he was in school), when the germs floating around caught up with his “floppy airways,” an actual medical term for a condition that’s frequently present in children with Down syndrome.
To my best knowledge without being a medical professional (they only give out honorary MDs when your baby is born with Down syndrome), “floppy,” or reactive, airways are characterized by a history of coughing and wheezing, sometimes indicative of pre-asthma-conditions without being cause for a real diagnosis. We have a nebulizer at home, and a stash of albuterol, for “as needed” breathing treatments that sometimes happen every three hours during cold and flu season.
Fast forward to the winter and 2019 rolled around. For the first time in his life, Jack had pneumonia and was able to recover at home, without hospitalization or medical intervention. It seemed like this was going to be it—the first year that I wouldn’t have to text my boss at 4a.m. that I was on the way to the Emergency Department with Jack and wouldn’t be back to work for a week.
There was some stirring around my office about coronavirus, but we’re in Metro Boston, and it was all the way on the West Coast. Mostly it was my coworkers teasing me about my upcoming UK trip in April. “Maybe you’ll get stuck and won’t be able to come back, that wouldn’t be the worst thing!” Others mourned their cruises and how they’d had to postpone only to avoid being stuck on board for weeks for seemingly no reason at all.
Then it became less joking around, and more serious. Hand-sanitizing stations went up around the building, and posters about the vitality of frequent hand-washing were taped to the mirrors in all of the bathrooms. Company-wide travel bans to areas of concern were put into place, then any meeting of more than 25 people was asked to be done via teleconference.
Jack woke up one morning at the beginning of March with what ended up being a ruptured ear drum; it was to be treated with a routine antibiotic.
Two days later, it became clear that his infection was resistant to the antibiotic, and I made a middle-of-the-night call to his pediatrician’s office to beg for a change in medication—over the phone. Surely, with what was going on around the world and creeping closer by the day (by the hour, really), combined with the fact that he had just been seen days prior for the initial prescription, something could be called in for him without needing to subject him to an office visit. But no, the doctor really would like one more look, but during an early-morning appointment, not during walk-in hours, to avoid the sickest of patients.
I went to work, grateful that my mother was able to take him for me and relay any pertinent information to me. This was Tuesday, March 10. Two days later, an email hit my inbox from the pediatrician’s office about closing down for staff quarantine due to exposure to someone positive with COVID-19.
“Wouldn’t that be just our luck!” I (anxiously) joked to my boss.
“I was SO SURE they could just call in that new antibiotic, but no!” I arrived at work the morning of Friday, March 13, and had been sitting at my desk for maybe an hour when my phone rang, a call from a number not saved into my contacts. Jack’s pediatrician’s personal cell phone.
Apologizing and promising to send information along detailing symptoms and what to look for. Mandatory quarantine for he and my mother (who has an autoimmune disorder). I remember walking into the hallway of my office building, realizing I was crying and needing to be somewhere with air. More air. I hung up the phone and immediately left work, rushing to intercept my mom, who had Jack (no school on Fridays!) and was on her way to a car servicing appointment. We traded cars, and they headed home.
No one was symptomatic, right? 14 full days at home? The quarantine order felt like torture.
Then, a few hours later, “does Jack feel a little warm?” I take his temperature, and it’s hovering above 103*. I call and speak with the on-call nurse, the only person working from the closed pediatrician’s office. Has he been coughing? Basically all winter. When did the fever start? I don’t know—he had a ruptured eardrum. I learned that he was among a group of people reported to the state for confirmed exposure, so surely getting him tested would be of no issue.
For four hours, I called—several hospitals (not authorized to test unless already inpatient), the state department of public health (not giving out testing locations, call this dedicated United Way line), the dedicated line (a very kind, but not equipped for success, woman seemingly Google searching local testing locations). The newly-appointed-for-COVID-19-cases nurse at our local department of public health, who finally confirmed that yes, Jack was eligible for testing, had an identification number in the state database because of confirmed exposure, but no, I couldn’t actually know the number, though its existence should help me find a testing location.
I called our local children’s hospital again, speaking with their COVID-19 nurses directly, did they remember me? Did this information mean they could test him, even if they weren’t supposed to? Things at the hospital were ever-evolving, they stressed, and they would go to the board and speak with someone and call me back.
Again, I spoke with the DPH nurse, who was able to point me towards one other local hospital that was conducting testing. I geared up for a fight, and within seconds of the head nurse of the ED answering, was urged to come right over, park in the ambulance bay. Call upon arrival, do NOT get out of the vehicle until instructed. Masks were left on a chair nearby, and once I was waved out, I put on my own mask, and then held my hand over Jack’s mask as he fought against it, until we were inside a sealed room.
The phone rang. I answered hesitantly, because was I allowed to do that? Who is this call for? A nurse apologized, as all communication has to happen over the phone, just in case. There are so many unknowns, and we had to go over the full workup before the doctor will come in. Fifteen minutes later, two doctors in full gear come in, apologizing for the awkwardness of the face shields, and lamenting the loss of personalization that the hospital prides itself on during ED visits.
One of the doctors, it turns out, is the head of pediatrics at the hospital, and the other doctor is visiting—training her on how to conduct a COVID-19 test, so that instructional videos can be made, and staff can be trained. It’s that new. And isn’t it funny, the only other case out of this hospital so far is a young adult with Down syndrome. So funny.
Tests for strep and flu are done first—quick test results are all negative. The swabs were awful—have you ever tried to restrain an octopus? How about one made of limp spaghetti? Jack was not a fan, and anyone who has a small child who’s ever been testing for anything involving a swab can attest to the emotional gamut you’re subjected to—knowing this needs to happen, knowing they can’t possibly understand what’s happening, having your heart broken a little bit at first, piece by piece, and then all at once, as your child screams and writhes and looks at you in terror, accusingly, as if this is something anyone would ever do without the most important reason.
Once the adrenaline has worn off, I would tell my friends and family that I could swear the swabs were poking into his brain, they were so long. One in each nostril. Finally, it was finished, and both doctors moved several feet away to strip their gowns and gloves, sanitizing before and after, and once more on their way out the door. Another phone call came: discharge papers will be sent via email, test results take 24-48 hours.
With this presentation, best to quarantine everyone in the household. Just in case. But it is a Friday, after all. I hedged my bets that possibly I would know by Tuesday at the very latest; I called twice a day, every day, anyway. While we began what felt like the endless wait for results, I appeased my anxiety by making sure to have anything and everything I could possibly need on hand—even if I thought (hoped) I wouldn’t end up using it.
Bearing in mind that I’m not a medical professional, I found it helpful to have both a pulse ox and a stethoscope at home so that I could track and provide percentages and breath sounds if a doctor asked (again, I only know how to use these very rudimentarily, and if you don’t entirely know what you’re listening or looking for, either one can cause much more stress than it may be worth).
I also had both Tylenol and Motrin, and cycled them every few hours at the pediatrician’s recommendation, to treat his high fever—this was vital to continue to do at night before bedtime; I noticed that when I skipped the bedtime dose, Jack woke up in the middle of the night, crying and miserable. We were fortunate enough to have a nebulizer at home to provide frequent breathing treatments—Jack had previously been prescribed Albuterol ongoing, which has helped during prior bouts of both croup and pneumonia.
Not medically related, but I also found peace of mind with plenty of electrolyte-rich liquids (we prefer Pedialyte, but if your kids will drink something different, I know there are other alternatives) to prevent dehydration for when Jack did not feel well enough to eat, and lots of easy-to-digest foods for when he would eat.
Meanwhile, Jack continued to run a persistent fever ranging between 102-103*, mostly unresponsive to any kind of suppressant. I borrowed a pulse oximeter from a friend, and a stethoscope from another. I watched YouTube videos on how to detect abnormal lung sounds. I gave him Albuterol every few hours. I read everything I could find about COVID-19, still very limited at that time, but as more became available, I read it, at all hours of the day and night.
I laid next to Jack in his bed, wide awake and remembering an eerily similar period of time when he was a newborn and I would watch his chest rise and fall, counting the seconds between inhales, listening to his chest rattle as he gasped every once in a while. Then, I was watching for indicators of heart failure, with an action plan in place. Now… I didn’t really know what would happen. There wasn’t much of a plan; there wasn’t enough information. And still no test results.
It seemed like no one else in the house was symptomatic—now, it’s been confirmed that sometimes even people who are really sick have next to no symptoms at all. We all just felt exhausted. My friends and family were checking in on me so often that I had to delete social media from my phone—I didn’t have answers, not even for myself. Existing through it was one thing; explaining it aloud or in writing to anyone else was terrifying.
Finally, on the 8th day after testing, the phone call came: positive. It should have felt like a relief, but it wasn’t. By this time, a positive test result meant almost nothing. There was no change in action plan—treat the symptoms, as best you can, until the time comes that you can’t. Stay out of the hospital until then. By then, maybe they’ll have figured out a way to treat everyone, successfully, equally, without endangering countless others in the process.
For almost two weeks, I kept charts taped to the wall with his temperature, medications, and O2 sats. One day, his temperature fell to below 100*—barely a fever at all. The best sign so far.
The next morning—the thirteenth day after Jack first became symptomatic, I went to get him out of bed, and he opened his eyes enough to see me, but wouldn’t sit up. I carried his limp body downstairs to the couch, and I tried to entice him into eating. Anything. Waffles? Goldfish? Froot Loops?
Finally, he signed “water,” and I gave him Pedialyte. He sucked down a full cup, and then another. He laid on the couch, asleep again, for an hour, until he woke himself up crying and proceeded to vomit all of the blue Pedialyte he had been able to drink earlier. I felt panicked. This was it, right? The call I didn’t want to have to make? I wracked my brain to make sure I wasn’t forgetting anything I’d read that seemed so insane before—did I really need to think about medical proxy and plans for my five-year-old?
Massachusetts had been slightly less stringent in the recently-released guidelines that had been all over the internet—how doctors would decide which patients would get priority, if they were put in the position where they were going to have to make choices. Criteria covering a range all the way from quality of life to value in greater society. But how could this be—was this really a fight I was even considering needing to prepare for?
While Jack’s dad and I went back and forth via text, I monitored Jack’s temperature (still low), and watched him sleep, snuggled against me on the couch. And then, five hours later, he sat up. His eyes opened, and he stretched. He got up and went searching for snacks. We decided that the hospital could wait, at least one more night.
The next day, Jack was awake at four o’clock in the morning, starving, giggling, full of energy, and bouncing off the walls like I had not seen him do in what felt like forever. He went one day, and then a couple more, without any sign of a fever. It was over. I think I slept for 24 hours straight; I finally remembered to wash my hair. I reinstalled social media. I am not particularly religious, but I felt overwhelming gratitude and awareness, knowing that this could have had a very, very different outcome.
This was almost six weeks ago. Now we know so much more, but it’s still not enough. I can’t watch the news; I find myself getting angry instead of laughing along with everyone else at stories of families being kicked out of closed parks because “someone snitched” on them.
I am heartbroken for Jack about losing vital months of socialization and services in school and frustrated almost daily that I cannot be a teacher, therapist, and mom simultaneously, and in the same moment, I have trouble understanding the idea that not everyone is taking this as seriously as I feel like they should be.
And then I remember myself back in February, so certain that my UK trip in April would happen, laughing at my desk about the absurdity of stranding cruise ships for weeks and the idea that hospitals could somehow run out of the very equipment they needed to function—to make people well. If I take anything away from this other than immense gratitude, it’s the hope that some greater respect is coming—for each other, for medicine, for science, for the planet.
Katy is in corporate finance by day and a single mom to Jack, age five, all of the other hours of the day (and let’s be honest, there’s quite a bit of overlap, too). Since Jack’s birth in 2015, Katy also moonlights as part of the Massachusetts Down Syndrome Congress’s New Family Support team, co-hosting family socials, prenatal support groups, and helping to connect families in the Down syndrome community with each other and with resources in the greater Boston area and beyond. Since the onset of COVID quarantine, Katy has also spent significant late-evening hours devouring trashy novels and completing 1000-piece puzzles at an alarming rate.
Who better to share a perspective on Hirschprung’s disease than a parent who has dealt with it herself? Meet Smriti…
For those out there just like me, let me give you a quick intro to it.
Hirschsprung disease is a congenital condition that affects the large intestine also known as colon which causes problems with passing stoosl. This condition is a result of missing nerve cells in the muscles of the baby’s colon which can be confirmed by performing a rectal biopsy.
Treatment usually means surgical intervention and removal of the affected portion of the colon
Hirschsprung disease occurs in approximately one in 5,000 newborns. Doctors aren’t entirely sure why some children get Hirschsprung disease, but they do know it can run in families and affects boys more often than girls.
For example, about one in 100 children with Down syndrome also has Hirschsprung disease. (Statistics taken from https://www.niddk.nih.gov/health-information/digestive-diseases/hirschsprung-disease)
My son, Laksh, had emesis 24 hours after birth which was greenish in color. That vomit created a panic of sorts and the pediatrician on duty admitted him into the NICU right away. The hospital where he was born did not have a higher level NICU and he was transferred into a bigger hospital within a few hours where they suspected a few things, one of which was Hirschsprung disease. To diagnose it, a rectal biopsy is performed which was done in a few days after we were admitted in the NICU but the results took a while to come back. When the results came back, he was scheduled for a surgery within the next few days.
For Laksh, we had to undergo a Pull-through Procedure, thankfully without the need of a colostomy pouch. His surgeon did a wonderful job. He worked very hard and the surgery that would have taken 3 to 4 hours took over 7 hours ( more colon than what they originally thought was affected) but Dr. Fisher and his team were amazing and so was my son. He is a rock star. This surgery happened when Laksh was exactly 3 weeks old.
So now that I have given you some background, here are the 5 things I have learned about Hirschsprung’s disease from my son:
Smriti blogs over at Live Life Laksh Size where she shares her adventures into Down Syndrome, motherhood and Hirschsprung disease along with her adorable tourguide, Laksh. The family calls New York home.
A Down Syndrome diagnosis can sometimes come with an increased risk of other more rare disorders. One of these is Infantile Spasms.
Dashel, who has Down Syndrome, has always been a happy baby and loves to smile. On April 8th, when he was four months old I noticed something wasn’t quite right, he wasn’t smiling hardly at all that whole week, he slept a lot more and just didn’t seem himself when I looked at him. I also noticed that when I was trying to give him his bottle he seemed unusually cranky and fussy and in the middle of trying to get him to calm down and take his bottle his arms and legs seemed to quickly jolt forwards and his eyes rolled back. It only lasted maybe 2 seconds but after it passed he would cry, a cry I had never heard before. I knew something wasn’t right and called his pediatrician to get him in the next day. A few hours would pass and he would have the infantile spasm, sometimes more than one, like a cluster.
When I took him to the pediatrician’s office he wasn’t having the spams at that time, but I had taken two videos on my phone the day before and was able to show the Dr. She seemed concerned and told me she wanted to talk to a neurologist to see what they thought. A few hours after I got home I received a call from the Dr. herself that the neurologist at Cook’s Children’s Hospital in Fort Worth wanted me to bring Dashel down to the emergency room as soon as possible. My husband left work immediately and my older son was picked up by my mother in law. We got to the ER and when we got to see one of their doctors we told them everything and showed them the video. They immediately did bloodwork and ordered a CT scan. They also got a urine sample via catheter and did a spinal tap for fluid testing. We hated seeing him go through all of this but knew we had to figure out what was going on. They told us that we would have to be admitted until they had the results for the spinal fluid, maybe 1 to 2 days.
The next morning after we were admitted to a room upstairs, the neurologist, came in and said he reviewed 
Dashel’s chart that morning and wanted to do a 24 hour EEG with video monitoring to see what else could be going on, he also said he thought it could be seizures and that the EEG would confirm this. During the EEG, we had a button that we had to push every time Dashel had the spasms to mark when he had them on the video as well as the EEG monitor, which by this time had increased in cluster and were lasting a little longer than before. After the 24 hours were up and he was removed from the EEG, the Dr came in and explained that Dashel was having Infantile Spasms, which he also called seizures. He explained that it was something not very common but was however more common in children with Down Syndrome.
His treatment plan was putting Dashel on a series of injections called ACTH or the Acthar Gel. Dr. Kelfer said that he felt this would help, but that Dashel could go on to have other types of seizures or possibly none at all. We would have to administer the injections at home everyday for six weeks. Dashel was prescribed a lidocaine cream to place on the injection site before the injection. The needle gauge had to be a little bigger because the medication was a little thick in consistency, so the cream helped with numbing the injection site. The nurse came in and walked us through the whole process and was very helpful. I had to do the first injection while we were at the hospital and it was honestly a little scary to inject our four month old with a medication but we got through it. The only side effects he had from the ACTH injections was an increased appetite and swollen cheeks which were both normal.
During the treatment we had two more EEGs done, one after 3 weeks of starting the treatment and one after the treatment was complete. The last EEG after his treatment was complete showed no seizure activity! We were so grateful and relieved to have such great results. The neurology team at Cooks took great care of Dashel. He hasn’t shown anymore signs of the infantile spasms since his third day of treatment.
Hopefully this is one of the last ones we will ever see: https://youtu.be/_SU4lmoQSqs
If you ever see your child do something that you don’t feel is right, follow your instinct. If they don’t seem like themselves have them checked out with their doctor, they may not be able to tell you what’s wrong and its better to be sure. Dashel’s Dr. said that the best thing we did was to get him checked out quickly.
I’m Lindsey, mother of two boys, Elijah who is 4 and Dashel who is 1 with Down Syndrome, and wife to Greg and we have been married almost 7 years now. We live in Keller, Texas. I am a stay at home mom. We love doing family things and taking trips to Disney. We love being apart of The Lucky Few! Find Lindsey on Instagram @mrs_gjc
