“My husband Dane and I welcomed Haddie into the world on September 5th, 2014 after three days of labor via caesarean. Our first day together earth-side was filled with so much love, kisses and cuddles. I was on cloud nine, I had dreamt of being a mom since I was a little girl and now that dream had become a reality! But by day three, things had changed drastically. Our baby girl cried inconsolably for hours. Nothing we did seemed to help! She didn’t sleep for more than three-hour spurts, maybe twice a day. But not only was she miserable she now had a rash that covered her entire body, like nothing we had ever seen before. This rash was raised, bright red and it had distinct swirl like pattern. Sometimes the skin would crack and look so painful. We had tried every ointment, lotion and cream under the sun. The only place on her body this mysterious rash didn’t disturb was her face.
Speed forward a year, we still have a baby who cries for hours, with a mysterious rash. She wasn’t meeting any milestones for her age. She could not sit or stand unassisted and eating by mouth was extremely hard for her – as she chokes on everything. We also had suspected she was having seizure activity, as she had very mysterious eye movements! We had seen five doctors throughout that year, all with roughly the same opinion ‘Haddie is colicky with a dairy sensitivity and severe eczema. I’m also not worried about the nystagmus you mention with her eyes – it’s not abnormal for babies to have rapid eye movements for the first year of life. I’m sure she will eventually be meeting milestones in no time as well’.
I felt like we had fallen under the radar, but my mama instinct knew we were dealing with much more, and we were prepared to keep pushing until we were satisfied! I finally found a doctor who was baffled we were never referred to a pediatrician, he pulled some strings and we were seen two weeks later. The pediatrician definitely agreed more was going on, he asked us so many questions before ultimately deciding to put a referral in to see a dermatologist. He also got the ball rolling with physical and occupational therapists and a speech language pathologist. I remember coming home after the appointment, feeling extremely overwhelmed. We suddenly had someone who was agreeing with us, and I couldn’t feel more excited, but I also felt so scared for Haddie because we still didn’t have answers. The day we met the dermatologist I was super anxious, because no one was able to tell us for the past 18 months what Haddie was up against. Before stepping foot into the appointment, Dane knowing me all too well, grabbed my hand and told me to just breath. He continued to reassure me that no matter the outcome from this appointment we would remain as a united front together. Within 5 minutes of meeting her, just like that she had a diagnosis for our sweet Haddie – Incontinentia Pigmenti (IP). She was straight to the point and looked up after examining the rash that riddled our daughter’s body and exclaimed ‘This is a disorder that is very rare, but in saying that its highly unlikely it will affect her future drastically. I think she had a slow start but should be catching up to her peers soon.’ but see this is an extremely rare genetic disease of the skin, hair, teeth and central nervous system, and it would indeed be something that would affect her life drastically.
I was instantly flooded with worry and so many questions. I suddenly felt this cloud sweep in and engulf me in overwhelming anxiety! Dane was pretty quiet, he didn’t show much emotion. I was having a hard time reading him which was unusual for me as we had been together since we were sixteen. I think he was in just as much shock as I was. We left her office with mixed emotions but also felt satisfied that we had answers, we could now move forward. After spending hours researching, mourning and learning about Haddie’s new diagnosis we learnt she could potentially have epilepsy, retinal detachments, heavy pigmentation in a squirreled pattern, scarring, missing teeth hair and or nails, intellectual disability and slow motor development. It was a very emotional time, we were mourning the loss of what we had thought would be, and instead had to change the vision to include things you could never imagine as a parent. It felt like everyone was moving forward but we were stuck standing still.
Unfortunately, Haddie had her first seizure in July of 2016. We were out with friends for dinner when I had noticed her face doing a repetitive movement that was unusual for her. I questioned it but it went away fairly quick, or so I had thought. Only moments later half of her body suddenly went stiff as the other side repetitively jerked. My friend also extremely concerned for Haddie’s wellbeing, agreed that she felt Haddie was seizing as she had a family acquaintance that was epileptic. They remained calm as we had other children at the table, but we quickly bundled Haddie up and took off. We rushed her to the nearest hospital, where they transported her via ambulance to the Stollery Children’s Hospital (Edmonton, AB) where she continued to seize for 3 days straight. After having several EEG’s, CT scan and an MRI Haddie was diagnosed with infantile and myoclonic spasms as well as focal and partial focal epilepsy.
I don’t remember the doctor explaining much, it’s still all kind of a blur but one thing I do remember him saying was, ‘Epilepsy is not for the faint of heart, it’s scary and can be very overwhelming but I know you’re more than capable of caring for this child. Between the two of you, you have asked me more questions than most parents ever do. We will remain to follow Haddie closely, but in the meantime, I know she will be well cared for’. At the time, it just seemed like a preloaded response he told all his clients. She was placed on medication and we were sent home 7 days later. The medications didn’t seem to help, we were spending hours in our dark, quiet room holding Haddie while she had episodes lasting up to an hour, 6 to 8 times a day. Our lives had now become fully engulfed by epilepsy. Dane and I were running on empty to say the least, physically emotionally and mentally. We had not one drop to spare!
Though we had a diagnosis for Haddie we still felt that there may possibly be more going on, something just wasn’t meeting up, as she was having issues that didn’t correlate with her newly diagnosed disorder. You see Haddie always struggled with breathing, and recurrent chest infections. She was placed on supplemental breathing oxygen at age 2 and has had many hospital stays for respiratory distress over the years. Most recently spending eight out of the twelve months of 2017 either in PICU or other wards at the children’s hospital generally for bilateral lung collapse due to pneumonia.
These breathing and lung symptoms did not correlate with IP! It is safe to say by this point we were extremely frustrated, we had doctors stumped as to why Haddie was having so many breathing issues. I never thought I would hear a doctor in pediatric intensive care tell me ‘I’ve never seen anything like Haddie, she honestly is a medical mystery that has me very confused’. We asked many more doctors, neurologists and pediatricians over and over if we were dealing with something other than just IP, but we were told time and time again that that it was highly unlikely.
It caused me to second guess myself, it caused me to wonder if anything I was doing for her was right. It was frustrating to say the least but- I’m stubborn and if having a medically fragile child taught me anything it’s taught me to never take no for an answer especially if I wasn’t satisfied, and to always be a bold advocate. We pushed for genetic testing which they were initially reluctant to do, as they didn’t feel we would find anything pressing. After 3 years of waiting and requesting we finally got the results of Haddie’s genetic testing in November 2017. We went into the appointment with high expectations that nothing else would be added. We had hope, but we were scared and anxious for the results waiting for us. The geneticist verified that Haddie did indeed have Incontinentia Pigmenti, we weren’t shocked as we have known for some time at that point. Then she paused and said, ‘unfortunately I have something else very important to tell you.’ My heart sank, my eyes instantly filled up with tears and my palms started to sweat. I knew with her uncomfortable body language and shaky voice what we were going to be told wasn’t going to be enjoyable to hear.
‘I’m deeply sorry to inform you Dane and Cheynee but your daughter Haddie’s results show a mutation in the MECP2 gene which means we are also dealing with Rett syndrome.’
I looked over at Dane, unable to speak. His face was so pale I thought he was going to pass out. My heart now felt like it was going to beat out of my chest. And almost instantly again there was that familiar cloud of unbelievable anxiety. See the geneticist didn’t have to explain to either of us what Rett syndrome was. We knew exactly what it detailed and how it was could potentially affect her future. We had suspected Haddie had Rett Syndrome before we found out she had IP. She had ever classic symptom of the disorder except for one- Haddie never excelled normally and then regressed but instead she had struggles from the very beginning. That was why doctors would continually dismiss our suspicions. After being told no so many times, we too finally dismissed it. We thought we were crazy, and that we were just trying to label her to make ourselves feel better for all these unexplained symptoms that didn’t exactly match up with IP. So, to hear our geneticist confirm what we had initially thought to be happening left us with so many mixed emotions.
So now what is Rett Syndrome you ask? Well here is a very brief explanation- Rett Syndrome is a severe neurological disorder that begins to manifest itself during the toddler years. After a seemingly normal first few years the child begins to lose previously acquired skills. This regression can happen quickly over a number of days or very gradually over months. Often the first noticeable symptoms include low muscle tone, eye crossing, decreased interactions with people and surroundings and loss of hand function. The hallmark symptom of Rett is repetitive hand movements that can be constant especially in the younger girls. As time passes additional symptoms may include movement issues (apraxia, dystonia, and tremors), seizures, gastrointestinal problems (reflux, constipation), orthopedic issues (contractures, scoliosis, and hip problems), autonomic issues (breathing irregularities, breath holding, swallowing issues) as well as sleep problems and anxiety. It is important to note that Rett is a spectrum disorder with children exhibiting a broad range of severity. Some children have some language, can run and feed themselves while others are unable to independently sit up. The symptoms in Rett are, unfortunately, many and often times debilitating. Rett Syndrome is treated symptomatically with medications used to treat the seizures, anxiety, reflux, constipation, sleep problems and movement issues. Surgeries to insert feeding tubes or correct scoliosis or other orthopedic problems are not unusual as well!
We have learnt a lot along the way. We are learning new ways every day on how to provide the best life we possibly can for her. Haddie is now 4, her rash has disappeared, but has left hypopigmentation all over her body. She is non ambulatory, nonverbal and g tube dependent. She has sleep apnea and requires bipap when asleep. AFO’s to correct her low muscle tone in her ankles, visits therapy on a regular basis, and gets around in a wheelchair. She most recently started a treatment called IVIG that has changed her life drastically! After only two treatments she no longer is dependent on supplemental oxygen, something we never seen coming! Another huge victory is her ability to fight viral infections on her own, having only had one very short hospitalization all of 2018! Though she still has multiple seizures a week, we have noticed a decrease in the severity and length of her seizures since starting the treatment as well. Despite it all, she is now a happy, easy going kid who adores animals, watching cartoons and of course her daddy. She is doing the best we have ever seen since embarking on this journey!
Sometimes I wonder what life would be like if it wasn’t so heavy.But sometimes I wonder how we got so damn lucky to be given someone as special as Haddie!Through it all I would never change a single thing because this brave girl has given us so much more than any words could ever express. She has taught me to be brave when I really didn’t think I could be. To find the good in everything. To be thankful for every day we are given with her, and to never take anything for granted. And most importantly to trust my instincts even when everyone is telling me not to. We are still emotional about both diagnoses, but we are happy to finally have the answers, because knowledge is power. We also have an outstanding support system and community that has showered us with so much love and continual support throughout everything.
We have learned to stand up time and time again, to dust ourselves off and continue to move forward with a smile on our face, laughter in our bellies and mad hope in our hearts.”
This story was submitted to Love What Matters by Cheynee Roseth of Alberta, Canada. Follow her family journey on Instagram here. Submit your story here. For our best stories, subscribe to our free email newsletter.
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