Easton

Easton

Male / 3 years & 7 months

Easton’s Journey

Share the first part of Easton's story for readers on Sleuth! When and why did you start to feel concerned?

Easton's story started before he was born. At about 28 weeks pregnant, I found myself very sick in the ICU with an infection, pneumonia, and relentless fevers. At the time I was blissfully unaware of what cytomegalovirus (CMV) was. However after weeks of testing, I was diagnosis with CMV and told that there was a chance that my child would be born with a congenital form of CMV as it could pass through the placenta. However, I was told to not worry and that it was unlikely to cause issues. This was far from true for us and so many. A few months later, Easton was born! At 36 weeks and 5lbs, he was doing well but had issues from the get go. He did test positive for CMV at birth but I was again reassured that he would be fine, and there was nothing to do for it. He was jaundice at birth and didn't as eat much as I felt he should. Every time he ate he would spill so much milk around his mouth that it soaked his shirt and mine. He sounded like he was gargling milk when he drank, almost like he was drowning. It was so concerning to me, but it was brushed off by doctors very frequently. I took him to his pediatrician, lactation consultants, chiropractors... I was desperate for help, He cried all the time, slept restlessly, and developed thrush. He was diagnosed failure to thrive at two months old weighing just 6lbs 7oz. This is when we were able to move to a larger children's hospital and start on this journey!

What was your experience, if any, seeking a diagnosis or treatment?

Easton's journey towards and treatment was a little different as we knew he had congenital CMV since he was tested at birth. Our fight for treatment and further diagnosis was much more difficult. After being transferred to a large hospital we soon found out he was aspirating everything he was drinking and his stomach had delayed emptying. That day he was given an NG tube which was soon switched out for a GJ tube. However, that didn't solve all of his problems. He frequently had formula back up into his stomach and his motility in his intensities would simply stop for days at a time. He had terrible reflux. This brought on inconsolable crying, hospital admission, gut-rest, and restarting feeds over and over and over. While we had a way to feed him, he was certainly not thriving and we still didn't have any answers to why he was aspirating. Eventually, Easton got a PICC line and was receiving TPN (which is essentially nutrition straight into the bloodstream instead of the GI tract). For the first time in his life he was gaining weight consistently and even chunked up a little, he looked like a baby for once! The PICC line came with it's own issues, like blood clots and sepsis. He was on TPN for a total of 5 months before it was just too risky, but I do think it really saved his life. While on TPN we had our first ever BAD hospital experience. A doctor doubted all his symptoms, took over his case and did many things I didn't agree with. He broke my trust in that hospital system. After this, we had a tough few months disagreeing over courses of treatments, formula, and what was next for Easton. I had finally decided it was time to look for a 2nd opinion when he was 15 months old, I found the Mayo Clinic Children's Aerodigestive Clinic. This has been the best decision, and in a backwards way I am thankful that our old clinic pushed us away to this. Here, Easton is seen by a whole team of doctors that are amazing. They flawlessly coordinate his care and have been able to help us make a lot of progress and get further answers. Since being here, Easton has developed new symptoms that they aren't sure if they are related to CMV or not, However, we currently don't have any other answers. He has had a full genetic genome sequencing that found nothing, negative MRI, CT, ultrasounds, x-rays, sleep studies, EEGs, and more blood work than I can remember. He gained many new diagnosis since coming to this hospital, but none of them really correlate and we are still searching for a big cause or condition as not all of his symptoms align with CMV. However, that is the diagnosis he has for now! Hypotonia, speech and physical delays, delayed bone age, idiopathic constipation, GERD, abnormal EEG waves, and severe central sleep apnea to name a few. The team here has preformed a few surgeries to help with his symptoms. Easton underwent a nissen fundoplication for reflux and was then able to move from j tube feeding to g tube feedings for the first time ever! Next, he needed a tonsillectomy for obstructive sleep apnea. Most recently he has undergone a series of esophageal dilations as he was found to have a cricopharyngeal cleft, most likely causing much of the aspiration and swallowing issues. These dilations have made a real difference in his ability to eat orally! He tried his first donut this week and loved it! Currently, Easton still seen at the Mayo Clinic Aerodigestive frequently, and has many more potential diagnoses and treatment options on the horizon. He develops new symptoms frequently, but also grows out of others which makes him a puzzling case for a lot of doctors! While this clinic is a whole day of travel from us, it has been worth every mile.

Do you have any other thoughts or advice you would like to share from this experience?

As a parent, I have learned SO many things from this journey and continue to everyday. 1. A feeding tube is not a bad thing. It is a tool like a bottle that will help your child eat and grow. Don't be scared! 2. Trust your gut. I know everyone says it, it sounds cliché. If you feel something is wrong, keep yelling it from the mountain tops until someone listens. 3. Get the second opinion, a third too if you feel you need it. It is okay to doubt a doctor and to need reassurance or a new path. 4. People will say some stupid things. Offhand comments about "my child is a picky eater too" or "why does he look like that" might happen, but the only thing that says is something about them. You are stronger than words. 5. You have to find your people. Family, a friend, another parent who has walked a similar path. having someone to vent to, talk to, cry to is so important. It does take a village, even if it is small. 6. Build a team you trust and love. It took us 18 months to find the team we are at now, and another 2 years to find the right team members. I can tell you it makes a world of difference to have a team who cares and advocates for you and your child! 7. You can do it, but you are a human who will make mistakes. You will spill formula all over, you will drop meds, you will yell in frustration, you will make mistakes. You are a superhuman but that is still a human. Give yourself dome grace. 8. The setbacks are terrible, but the wins are so much sweeter. I can't count the times I've cried in a car after appointments or in the hospital after bedtime, there will be setbacks and sometimes they feel insurmountable. But then you get a win. I cried when he finally started crawling at 13 months old. And walking at 22 months. He has worked so hard for every word he can say and every stair he can climb that they are more meaningful than I can describe. even things as small as getting off a medication or getting good news, they feel like winning the Olympics!

Timeline

Below is a timeline of Easton’s observed symptoms, diagnosed conditions, and treatments and therapies.

Easton's Medical Notes

Signs & Symptoms

Diagnosed Conditions

Treatments & Therapies

Doctors & Specialists

SLP, Theresa Kinnunen

Institution: Easton's parent isn't sure

Additional Info

On Feeding tube

His feeding tube saved his life. Simple as that! Good nutrition without a struggle is so important for growth and development, I wish we would have done it sooner!

On Esophageal dilation

This has been a recent treatment for Easton. It is not a permanent solution, however it is the most minorly invasive option for now. It has allowed him to begin to eat solid foods for the first time ever! It wears off about every three months and the gagging and choking begins to return. Once redone, he can eat well again.

On Feeding Therapy

Feeding therapy has helped easton learn everything from how to chew, how to drink, not to be afraid of food, what things smell like, what they taste like. So many amazing outcomes. He started very young and has worked through oral aversion, oral motor difficulties, and sensory issues. It has helped maintain a good relationship foods through his dysphasia.

On Aerodigestive Team

The Aerodigestive Team at Mayo Clinic involves a combination of many specialists working together to treat patients as one specialty. All the doctors work together and discuss the patients needs together which takes pressure off the parent trying to communicate between doctors. They are often able to schedule all visits in one day or days, so we don't have to travel too frequently.

On Physical Therapy

Easton has recently made big strides in physical therapy and is taking the summer off. He had been in physical therapy for over 2 years, and it helped him crawl, walk, jump, run, etc. Easton figured many gross motor skills himself, but would do them "incorrectly" or in ways that were bad for his body due to his hypotonia. He had to work hard to gain strength to stabilize areas that were weak due to his hypotonia and small size.

On Cricopharyngeal Bar

This was present on studies as early as 2 months old, however his initial doctors did not catch this. Thankfully, it has recently been identified and begun treatments. It was often called a "shelf" on earlier studies that did not identify it correctly. It puzzled doctors why it was present on studies but not when they sedated and did scopes to look for it. As it is a muscle, under anesthesia it relaxes and it not very noticeable.

On Difficulty swallowing (Dysphagia)

We now know more about this issue and that it is a combination of his hypotonia, reflux, and a cricopharyngeal bar. He always sounded like he was struggling to eat, would only eat small portions at once, and it made him very tired to eat. Symptoms now include gagging, choking on food, noisy breathing, spitting out liquids, and fatigue with eating. He has made amazing progress and it has gotten better with age and proper nutrition, but it is still a battle.

On Gastrointestinal Issues

His intestines can stretch and struggle to constrict to move things through properly. This affects his GI tract from top to bottom and causes huge variability with motility and bowel movements day to day. It has posed a big challenge to potty training as well. He experiences "belly hurt" as he calls it frequently on his left side. As a baby he was always "backed up" and fussy. He was called colicky and gassy more times than I can count, but it was much more severe than that!

On Central Sleep Apnea

Easton was very recently diagnosed with severe central sleep apnea. However, this is likely more of a symptom than a final diagnosis, and we are still looking for its cause. For Easton, this means that he has very frequent breathing pauses and gasps in his sleep. It causes many waking at night and drowsiness during the day. He will wake up and ask for a drink, but never open his eyes or respond to any other stimuli, making it seem as if he is not even awake although he is drinking. He had an EEG during sleep that was not normal.

On Congenital Cytomegalovirus (CMV)

Easton has never been seen as the "typical CMV kid." he has not shown any hearing loss and his other issues are generally not what doctors see for CMV kids. However many of his symptoms are related to his CMV infection. He was diagnosed at birth but his doctors told me he was not symptomatic. I now know that his low birth weight, jaundice, and feeding issues were all very clear symptoms. However, he was tested and diagnosed at birth since I knew while I was pregnant that I contracted CMV. We are lucky in this regard, or we may have never received this diagnosis.

On Low muscle tone (Hypotonia)

This was not formally diagnosed until he was closer to 18 months old. However, looking back I can see symptoms from birth. Easton struggled to hold his head up and didn't meet milestones on time. His joints are very flexible and now as a toddler he falls a lot and it is hard work to do things that most people take for granted, like walking and running! The hypotonia effected more than his gross motor function. His digestive system is also hypermobile and can essentially "stretch out" when too full instead of pushing food through. The low muscle tone also makes it harder for him to chew and swallow. Even the small muscles in and around the mouth can be effected by hypotonia, making certain speech sounds (like an O sound) difficult. It was even difficult for him to track objects as his eyes were weak, and needed to be strengthened further due to the low tone. It effects all muscles, not just mobility.

On Sleep problems

Sleep has always been a battle around our house. Prior to about 1-1.5 years old it was usually due to reflux or some other medical reason. However, since then he had developed a real difficulty falling and staying asleep. It can take hours for him to fall asleep, and he can wake anywhere from every 1-2 hours some nights. He had sleep studies done and he was diagnosed with restless leg syndrome but with iron treatment it improved and he know longer has this. The sleep issues persisted and he had his tonsils removed for obstructive sleep apnea. His sleep improved for a few short months before worsening. A recent sleep study showed severe central apnea and the cause is unknown, however they are currently suspecting seizures and he is undergoing diagnostics now. he had an abnormal EEG that is pointing toward a childhood epilepsy, however nothing is officially diagnosed yet. Sleep impacts so much more than just night, and his development really takes off when he is resting well! (my crankiness really goes away when he is sleeping good too lol! )

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