Believing The Invisible
A mother describes what it is like to raise a daughter with an "Invisible Illness," which in this case is a hypermobility syndrome known as Ehlers-Danlos Syndrome. Knowing how to advocate for your child and surrounding yourself with a team of physicians and team-members who believe in you is as important as meeting a child's physical and emotional needs.
8 years ago I was pregnant with my first child. I had everything planned out, breastfeeding, no pacifiers, no bottles and certainly no medications during labor and delivery. Can you tell I was a first time mom just by that sentence? I remember a couple of the nurses over our three day stay telling me that there was “something special about your daughter.” Little did I know just how special she was.
Over the course of almost 8 years, my daughter Braelyn has been struggling with complex medical needs, some of which are invisible to most people. Thankfully, in our small town, we had a PCP that not only listened to all of the concerns of this first time mom, but always went above and beyond to help her patients. Some issues were surely things that babies and kids dealt with regularly like acid reflux or a food allergy, while others were a bit more out of the ordinary like a bulging fontanelle or a child that was so flexible she could bend her legs and hips so that she could fit into a magazine rack.
Leading up to the magazine rack, our PCP Dr. Marlene Wust-Smith had taught me to take pictures because pictures and videos are always helpful to doctors. Just shy of 18 months, after meeting all her milestones for the first year on time or early, our daughter started losing words. My husband started piecing together some behaviors (the sorting and stacking of things, how change would throw her off, textures, rigidity with drinking and eating) and believed our daughter had Autism. In our house he was the expert having grown up with a younger brother who was on the spectrum. A big red flag was when we changed her cup, which resulted in 32 days of no drinking.
On February 25th, 2015 we spent a day with doctors in Lewisburg, PA talking and “playing” with Braelyn. Several hours later they confirmed Dad’s thoughts, Braelyn was found to be on the spectrum. So at this point Braelyn had multiple food allergies, Autism, speech delays and a gastronomy tube, which she still currently relies on for 75% of her nutrition and fluid needs.
I remember Dr. Wust-Smith reaching out and using as many resources as she could to figure out different ways to help Braelyn. To have a doctor be honest and say “hey, I’m reaching out to others to see about this and that” and look at unconventional avenues to help a patient and their family speaks volumes to me. I remember her telling me she thought Braelyn may have something called Ehler’s Danlos syndrome. She had asked questions to others on different forums about it. Other specialists had mentioned that Braelyn walked “looser” than to be expected.
When we arrived in Pittsburgh for a lengthy inpatient stay for an intensive inpatient feeding therapy, Braelyn received assessments in all areas of PT, OT, ST, feeding psychology and pediatrics. PT brought in a physiatrist due to knee pain and popping, low muscle tone, ankle pronation and the need for trunk support. All these things were important to address because all of these things can affect the ability to eat. Imagine using all your strength you have to sit upright in a chair and then still have to do an incredibly hard task of eating.
Now I know most of you are like “eating isn’t hard.” Eating for Braelyn has always been extremely difficult. Braelyn has never found joy with food or drinking. It’s more like a really hard chore to her. Doctors would tell you she’s a child that would starve herself to death, this isn’t a case of picky eating and she’ll get hungry and eat.
During our stay at the clinic we began learning more about how Braelyn’s body worked and why it worked that way. Dr. Russell (Pediatric Physiatrist) asked us one day if we ever had anyone talk to us about Ehler’s Danlos syndrome. I smiled and gave a chuckle and said “several doctors have.” Braelyn was diagnosed with Ehler’s Danlos syndrome type III. We got bracing for her knee that hyperextended and caused pain, she got SMOs for her ankle pronation, she got a SPIO to help with trunk support. She started PT on a regular basis.
Fast forward to 2017: Braelyn began having higher than usual heart rates, immediately preceding an illness. She would have a 130+ heart rate, sitting down doing absolutely nothing. I remember getting a message from her nurse at Head Start that Braelyn (who was fine when I dropped her off 49 minutes ago) was listless, had a heart rate of 160+ and her respiratory rates were not in normal range. They couldn’t keep her awake. At the ER, my little girl was found to be dehydrated and fighting the flu.
In September of 2018 Braelyn began kindergarten like any other 5 year old. She was in a general education room with a private duty nurse due to multiple severe food allergies and her feeding tube that was feeding her consistently throughout the majority of her school day. During circle time, which happens first thing in the morning, Braelyn would get “the look” and all of a sudden would not be feeling well. “The look” is very well-known at school and home between therapists and school personnel because it's a very distinctive look. She just looks so ill so quickly and for unknown reasons. Some days it’d get bad to where she’d vomit. She’d lay down for a portion of her school morning and then she’d be alright.
During these episodes it would be noted that her heart rate would increase greatly. So off to see a new cardiologist (insurance change caused us to have to see someone new). It turned out this one traveled up to a local hospital every couple of months and she’d be local the following day. During our visit Braelyn was still tachycardic. The cardiologist wanted her to have an echocardiogram next.
During this Braelyn went from watching the screen and talking about what the red and blue on the screen meant to Braelyn almost passing out. (Boy do people move fast when something unexpected happens!) As Mom, I started crying, Dad immediately picked her up and tried to talk to her and get her to wake up and nurses ran for the doctor. The doctor said the good news was she knew exactly what was going on with Braelyn and she was going to be okay. She echoed the same words the last cardiologist had said to us. Braelyn’s autonomic nervous system was being affected by her Ehler’s Danlos syndrome. There’s a name for that in this case too, postural orthostatic tachycardia syndrome.
There is a vicious pattern to this for Braelyn, as her anxiety and the POTS feed each other. Usually you have to get the anxiety under control because then you can get the POTS under control. The problem was we couldn’t figure out why circle time or mornings were so rough for Braelyn. Communication is still something we are working on then and now.
These episodes would continue, then we’d add salt to her morning regiment and it’d work for a while until it didn’t. Some days were fine and others weren’t because we’d changed something in her day. A few weeks before the start of her first grade year Braelyn was meeting with a local psychiatrist to get re-evaluated for WRAP around services. I stood outside of the office where he asked to have 5 minutes to speak alone with her. She didn’t want me to leave, but eventually conceded when I said I’d stay right outside the door. A few moments later the fire alarm went off. It was extremely loud and scared Braelyn. After the drill was over we all went back inside and I let him finish their alone session - or tried rather.
Braelyn began trying to vomit and eventually succeeded. We left with her still puking and screaming her head hurt. Over the course of the next 6 days this behavior continued. Some days she’d even have full body shakes. I recorded a video to show the doctor I wasn’t crazy, something was wrong with my baby. I had taken her to see every doctor locally who said it was anxiety or mental health related. Watching my daughter scream and beg for help daily was gut wrenching.
August 6th, 2019 Braelyn began to not feel well. We did our usual, lay down and put your feet up above your heart. She began puking and yelling and crying her head hurt. I called the doctor’s office because someone had to listen to this child and understand something was wrong. During this phone call Braelyn began shaking again. I was instructed to hang up and call 9-1-1 because Braelyn needed to be at a Children’s Hospital. The ambulance came and the medic saw how bad she was and next thing I know I’m calling my husband at work frantically because they were now calling Mercy Flight for our daughter.
I sent my daughter in a helicopter 3 hours away alone because there wasn’t enough fuel for any extra weight. By the time the ambulance got her to the chopper she was awake and alert. It was more than 4 hours before we got to the hospital she was taken to. She was hooked up to a long term EEG with video monitoring. Each day we changed just a little bit. On day four we gave Braelyn a regular day and pushed a button that would induce anxiety - math and handwriting. She began feeling sick and then would scream of her head hurting. They’d give her pain meds and eventually she’d settle down and sleep for hours.
They decided she had seizure-like activity - not typical seizures, but psychogenic seizures caused by stress. The doctors were ready to head to medications to slow her heart rate, but Dad and I just weren’t there. I found some POTS groups on facebook and I asked the experts, “Why is the morning so bad? What do you do to help your mornings go better?” Turns out most of the people I heard from said mornings were the absolute worst for them and they felt it was this way because they’d gone all night without fluids of any sort, unlike during the day. To solve this issue and make mornings better the general consensus was drinking 32 oz of water and salt before getting out of bed. This is when I presented what I thought was the best option for my daughter. I wanted to go back to night nursing and trial fluids overnight. Once cardiology and GI agreed, I needed to make my case to our current PCP. This was a hard task internally to me because I do not have the relationship with this PCP that I did with Dr. Wust-Smith or with the PA we see here in our town.
In the end our PCP agreed to a one month trial. We are now two months in and man has it been a game changer for Braelyn. This illness has caused so much chaos for such a little girl. These episodes, as of today, are very well managed thanks to anxiety medicine, salt and fluids for 8 hours a night while she sleeps. We went from having a child that couldn’t even function the first 4-5 hours of the day, a kid that didn’t care to play because she wasn’t feeling well to a child that is up each day and wanting to be active because she feels well.
As the mom of a kid with an invisible illness I feel like I cannot ever let my guard down, whether it’s food allergies, protecting her from doing something that could dislocate a joint or fighting insurance. There’s always something going on. It means not relying on the doctors to know everything and doing your own research and becoming an expert yourself. I’ve done this over and over again, first with food allergies, then with ARFID and now with EDS. While I still don’t have answers to why my daughter is the way she is nor have I found another family with a child like mine, I truly am glad I got to be her mother. She has taught me to stand up and speak out.
We are currently schooling virtually at home through our district due to COVID-19 and for us it has been the absolute best thing. For the first time ever Braelyn has continued to eat breakfast, have a snack and eat dinner. She gets a complete sensory diet built into her days and has 7 built in breaks during her school schedule and the option to have 3 minute breaks when needed. She has more time to do her work without the pressure of seeing other kids finishing their work. She has more accommodations this year that has made it possible. She even starts her school days in a sensory swing. She misses her peers, but loves that there’s no noise like at school and that she gets downtime between subjects.
I implore any professional to listen to the concerns of parents. We understand you all have education under your belt that we may not have, but we have the experience of life with our child and ultimately we truly do know them best. I remember Dr. Wust-Smith being completely surprised when she was shown a video of our sweet little Braelyn having a complete meltdown over food, throwing it, hitting, throwing anything she could get her hands on and even sending out punches. I urge parents reading this article to stand up tall and fight hard, you will always be your child's’ best advocate.