Fighting to Get My Young Daughter Diagnosed With Erythromelalgia
By: Brianne Smith
It was August 2013 and we had just celebrated my beautiful daughter Kensie’s 4th birthday, blissfully unaware that our lives would soon change forever.
The pain struck unexpectedly following a happy swimming excursion.
“Mommy, my feet are hot!”
I brushed it off. “Oh honey, it’s summer, it’s hot outside, and you probably got a little too much sun.”
Over the coming weeks, Kensie’s complaints became more frequent. By mid-September my precious 4-year-old baby was waking up every night sobbing that her feet were hot. She would scream for hours, her tiny little body shaking as I held her in my arms and gently rocked her. All I could do was pray that her pain would stop.
Frantic, I contacted her pediatrician who, after examining my seemingly happy and healthy child, was completely lost as to why she should be experiencing nocturnal pain. In the cold light of day, Kensie’s feet looked normal and without sign of the previous night’s terrible burning episode; there was only my word for it. And so began the long, arduous search for a diagnosis for Kensie.
We spent the following year being bounced from doctor to doctor, consulting every medical specialty, but not one was able to tell us what was wrong with Kensie. I have no words to describe my overwhelming fear at this point. Can you imagine what it was like not knowing what was wrong with my little girl for over a year? Night after night, I heard my daughter scream in pain while I desperately tried to comfort her. I would sleep with her and try to distract her by playing Disney cartoons on my iPad. When I discovered that cooling helped, I began to religiously apply ice packs wrapped in a towel to her lower legs and feet every night, from bedtime until early hours of the morning.
Kensie’s excruciating erythromelalgia flares mostly affect her feet.
About a year and half after our nightmare had begun, we finally saw a neurologist specializing in pain. Little did we know that he was one of the very few doctors familiar with a rare neurovascular condition called erythromelalgia (EM). He looked at the photos of Kensie’s hot, red, swollen feet and questioned my husband and I about our medical history. I realize now he suspected some kind of genetic condition. While he did blood work and tested Kensie for mutations in the SCN9A gene, she was prescribed a lidocaine cream for the pain. Despite no family history of EM and a negative SCN9A-related inherited erythromelalgia result, he diagnosed her with primary genetic erythromelalgia.
When the EM Warriors informed me that 21 mutations had been identified in the genes to do with the sodium channels Nav1.7 and Nav1.8, I really wanted to screen her for mutations beyond the SCN9A gene. Some cases of erythromelalgia occur in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some of these instances, an affected person inherits the mutation from one affected parent. Other cases like Kensie’s, however, result from new mutations in the gene and occur in people with no history of the erythromelalgia in their family. In Canada, our healthcare does not cover DNA sequencing, so there is no way we could afford to pay for that.
Kensie, aged 8, has suffered from “burning man syndrome” since she was 4 years old.
In 2015, two very long years after Kensie’s first burning episode, not much had changed. Yes, she was diagnosed, but she still never slept through the night – and neither did I! Her EM had progressed too and she was beginning to have severe burning episodes during the day. I remember looking at her and feeling totally at my wits’ end. Her lovely eyes were rimmed with purple circles from the lack of sleep and her little body was frail, exhausted from the pain. The lidocaine cream was not helping either so her neurologist decided to try her on the neuropathic drug gabapentin. It took a while before we really saw a marked difference but soon she was in noticeably less pain. I will never forget the morning I woke and realized that Kensie had slept comfortably all night. We were all crying tears of joy for days!
Kensie, who describes erythromelalgia as being like putting your feet on a hot fireplace, is 8 years old now and fairly stable. As she is doing so well, her medication has been scaled back to bedtime instead of three times a day. She uses a frozen beanbag to cool her flares, a fan at the base of her bed and she elevates her feet (although she says that elevation does not always help her). Kensie’s tips for children like her are to go barefoot as much as possible and to always use ice packs wrapped in a towel to avoid nasty skin and nerve damage.
Kensie celebrating her recent communion.
Notably, her erythromelalgia tends to be worse when she is sick (e.g. with a cold), when she is stressed or when she has just been too active in the summer. Kensie loves to swim and create art, but she does struggle to keep up with the other kids when it comes to school activities. I am very grateful that her school is really supportive: they allow her to walk about in bare feet and let her have breaks during physical education, if needed.
Erythromelalgia has definitely affected our lives as a family. We have to
carefully plan where we are going and what we are doing and whether Kensie can endure the walking. As she is a petite child, until now we have been able to use a stroller. However, she has since outgrown the stroller and we have no idea how she will cope this year. Because erythromelalgia is an invisible illness, people look at Kensie and think her no different from any other child. Now that she is older, she is becoming resentful of her condition and beginning to ask some tough-to-answer questions, like, “Why did God make me this way, Mommy? I just want normal feet! I don’t want to be like this my whole life!”
Kensie and her mom Brianne
In my search to try to understand the condition better and find help for Kensie, I was thrilled when I discovered The EM Warriors: Patient Support and Information Network on Facebook. One thing I desperately wanted was to know was how other children coped. EM Warriors put me in contact with several families I could speak to, which was awesome, and they educated me how best to help Kensie. Becoming a member of EM Warriors has truly been a blessing. They really supported us, even reaching out to me to see whether I was coping OK too. Kensie loved getting involved in the “I am the face of erythromelalgia campaign” to help them raise awareness of this excruciating condition.
Kensie gets involved in raising awareness of erythromelalgia with the EM Warriors.
Those without the condition just can not imagine how unbearably painful EM is or how difficult being a parent of a child with erythromelalgia can be. Not knowing what is wrong with your child and not being able to comfort their pain just leaves you feeling so helpless! There were times, and I am sure there will be more times in the future, when I felt like I was going to break from all the stress, worry and lack of sleep.
Always focusing first on Kensie’s needs has been doubly difficult because my 12-year-old son, who has ADHD, felt jealous as Kensie needed me so much during those early years. I still find I have to work extra hard to reassure my son and show him he is my priority too.
Brianne and Kelsie who has primary erythromelalgia joined the EM Warriors Parents of Little Warriors Club.
Kensie having erythromelalgia is hard on all of us and there is no way I could do any of this without the help and support of my awesome, hardworking husband and our amazing extended family (cousins, aunts, uncles, etc.). But I also work part-time so we can provide for the extra needs of our two children, especially their medical bills and expenses.
Kensie cools her feet with her Hello Kitty fan, a present from the EM Warriors Little Warriors club.
I think my best advice to anyone who thinks their child might have EM is to take plenty of photos. I don’t think Kensie would have been diagnosed without them. Also, always be prepared, whether it’s remembering to take extra ice packs or anticipating how your child’s body might react to the main triggers of warmth, stress, exertion, pressure and fatigue. Never leave home without having everything you might need. Remember these courageous children are in tremendous pain, scared, maybe not being believed or even being bullied. They need tons of love and understanding!
In all honesty, I do not know how I have coped, but I do know I‘ll never stop fighting for Kensie. I will always be her advocate and an advocate for erythromelalgia!
Who are The EM Warriors?
The EM Warriors: Erythromelalgia Patient Support and Information Network are a self-funding charitable association dedicated to EM-powering, educating and encouraging all those living with or affected by erythromelalgia and its comorbidities.
Do you or a loved one think you may have erythromelalgia? Would you like more information about the syndrome or have EM-related support needs?
Please consider donating to help us sponsor independent research into erythromelalgia.
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