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.
In early March 2020 when the first cases of Coronavirus and subsequent Covid19 were identified in my home state of Ohio, I began to feel concerned. We are a large family, but my biggest concern was for our youngest child, Cedar, who has Down syndrome. What I couldn’t find as the pandemic raged across the USA was any cases of individuals with Down Syndrome contracting Covid 19 and how it impacted them. Then I did hear of one, a fatality of an adult man with Down Syndrome from Covid 19 in South America and then one in New Jersey and just after that, this story, Max’s story of contracting Covid 19 and recovering from it as well. This is the story I will share, Max’s story of Down Syndrome and Covid 19 a recovery story written by his mom.
Max was born on June 7, 2019. He is our second child; we have a daughter as well who was 19 months old when Max was born. We wanted the kids to be close in age and at 35 I felt like my clock was ticking. He came 3 weeks early which was a surprise to us, I expected a labor free birth as I was scheduled for a repeat C-section. Max’s down syndrome was no surprise, I had found out prenatally via amniocentesis at around 22 weeks pregnant.
Like many diagnosis stories, I had some good doctors that encouraged me about his diagnosis and some not so good doctors too.
During my pregnancy I was referred to see an MFM and cardiologist for some additional ultrasounds to search for any “abnormalities” that come with having a down syndrome diagnosis. Fortunately, they found nothing and released me from their care. Max was born very healthy and only needed to be on oxygen for a short period in the nursery. After a few days in the hospital we left for home together.
Fast forward 9 months. The first cases of corona virus have been detected in the United States and it’s predicted to spread across the nation. My husband is a retail pharmacist and I work as an engineer in a manufacturing facility, at this point we both are still reporting to work. We are fortunate to have my mom live with us and care for the kids at home while we work. We jokingly refer to her as our “granny-nanny.”
As the corona virus was picking up speed, my mom was out of the country with my brother enjoying a much-deserved tropical vacation. My husband’s mom had come to help us with the kids while she was away. We started to joke they may get stuck at their Caribbean resort as the president began to shutdown overseas travel. Fortunately, they made it back to the US just before air travel is stopped and the state begins to shut down.
Approximately one week after her return is when we started to experience symptoms. My husband thought he had a sinus infection and experience a mild fever. My mom had a sore throat and some congestion. I had a slightly runny nose and thought it was from the swinging highs and lows of Ohio weather. I didn’t think much of the symptoms at that point. That weekend was March 21, our first world down syndrome day. I was excited for my local down syndrome group organization’s festivities, but they were cancelled due to the threat of the spreading virus. So, I put on my mismatched socks and we celebrated at home.
I noticed Max was fussy and tired that day, unusual for him. He developed a slight fever that evening. I also started to feel funny and realized I also was running a fever. I gave Max some Tylenol and took some myself and hoped we would feel better in the morning.
Things did not improve over the next few days. Max’s fever continued and he had a very mild cough, my fever lasted another day and then I started feeling very achy and fatigued. My mom was getting sicker too and in addition to the flu-like fatigue and aches also had chest pains. My husband had recovered by the time the weekend had passed and our 2-year-old never became ill.
That next Monday I stayed home from work and contacted my doctor for a tele-visit. He said I likely had the flu, to stay quarantined for at least 7 days, and sent a prescription into my local pharmacy for some cough medicine. He told me I did not meet the demographic to be tested for covid19. I also sent an e-mail to Max’s pediatrician to see if we should be concerned about his symptoms. Max’s fever was well controlled with Tylenol and after it kicked in, he was mostly back to his normal self but seemed extra tired.
However, she called the next day and said to bring him in immediately. The plan was to test him for flu and if it came back negative, he would be tested for covid19.
Getting a covid19 test at this time was difficult. She explained she was able to get him a test because he has down syndrome and he had some mild breathing issues as a small baby (silent reflux caused him congestion that is now easily controlled with medication). I had taken that day off work because my mom was so ill, she could not watch the kids. I packed Max up and we went to the doctor. His flu results came back negative and so we went to our local drive-thru testing center for the test. They told us the results would be back in 5-7 days.
While waiting for the results we were to keep quarantined. My husband went on FMLA and I started working from home full time. This worked out well because my mom was sick so he could watch the kids. While my mom and I seemed to get sicker each day Max woke up fever free by Friday. We were very relieved! He was sick for approximately 5 days total. At this point mom and I were miserable, my mom having the worst of it. She equated the illness to what it feels like after you receive chemotherapy treatment (she had recovered from cancer a few years back).
I had never felt so tired and miserable from a cold in my adult life. After several more days I started to feel better but now had new symptoms, diarrhea and I lost my sense of smell and taste. My husband had also been complaining he could no longer taste or smell. We were surprised when watching the news one night and they revealed this was a new symptom of covid19. At this point we were almost certain Max’s test results would come back positive.
We waited and waited and waited for the test results. By day 8 I contacted the doctor to inquire about them. Apparently, what they did was sent them for a virus panel first and then once that panel came back negative, reflexed them to the covid19 testing. It would be another 5-7 days before we would receive results. She apologized and we continued to wait. On day 13 we received results; they were positive for covid19. By then we were all mostly recovered, my mom and I still fatigued from the long illness but on the mend.
We’re not certain where we got the virus. It could have been my mom bringing it back from vacation with her, but my brother who had traveled with her had no symptoms. My husband is in contact with plenty of sick people at the pharmacy he works at so perhaps he brought it home. Many people I worked with also had been ill so it could have been me. We were all very careful to wash our hands after returning home and throughout the day but at the onset of symptoms social distancing wasn’t being very well enforced. Regardless, we are very lucky to have recovered without hospitalization and I hope this story may give those with babies or young children, down syndrome or not, some peace of mind.
Kristen is 36-year-old mother of two who works as an engineer in Ohio. When not working she enjoys spending time with her family, doing crafts, and playing games
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
