This is a story about a possibly most seriuos case of Harlequin ever. But it is also a story about the sweetest smile our Elizabeth has and how she „talks“ to us. LOL
Two extremes and for our family a bright new, beautiful, but also a tough and difficult era.
Our 6 months old Elizabeth joined her 3 siblings with extremly rare skin genetic disorder called Harlequin ichtyosis, the only one in Slovakia and with her severe form possibly even in whole Europe, if not worldwide.
This diagnosis, which for its extreme rarity even specialists know only from textbooks, doesn’t allow most of the babies survive longer than for a few weeks. So when she was born, we weren’t given any chance, we were being prepared for the worst, by everyone and without hesitation. But Elizabeth is a warrior and she had, and still has another plans and she turned out to be a sweet and cute baby, requesting intensive care, which we give her day and night with love!
She came to this world in thick and hard crust, like a turtle, basically without skin, with heavily deformed face and body, and after few months of intensive care, our strong will and will of God, she emerged from her cocoon like a butterfly.
No, we don’t need a milion dollar cure, simply because there is none. Harlequin ichtyosis is not curable. To secure our daughter her comfort means intensive and never ending care.
Taking care of her is fullfiling for us, but…
After 6 months we found ourselves on the edge of our financial possibilities, both of us paralysed to stay home with unbelievably time and financialy consuming situation, without the help of state or insurance company. We have to pay for nearly everything from our own pockets, forced to travel abroad for medical treatment and without an option that one of us could work full-time.
The more time we dedicate to our daughter, the less pain and discomfort she feels. Intensive skin moisturising and long baths are obviously doing her great and we are rewarded by her smiles. If she is not getting enough care both in quality or quantity, she lets us know loudly that she is in pain.
Elizabeth came to this world with great pain and was taken right after to ICU, where she was given light sedatives and pain killers and stayed on them for another 4 weeks. By the time she was 3 months old she already had 3 blood transfusions, and we pray that it was the last one, even though we know it would be highly impropable.
We need to buy an air-conditiong for her bedroom, she might need a plastic eye surgery abroad, we have to built an addition to our small house – she needs her own bathroom with her own washing machine.
First 1800 eur will be spent on body creams, special bathing oils, vitamins and eye drops and gels fot the period of 6 months. Another 500 eur for washing machine, 1200 eur for air conditioning, 1500 eur for a part time nanny. Plastic surgery aproximately 4000 eur, icluding a lot of visits to hospitals. Clothes are also quite an issue, as they dont last long, bacause of the enormous amount of heavy creams.
From the very beginning our absolute priority is to let our 3 older children know, that they are loved as much as before, so they don’t feel overlooked because of the amount of time we have to spent taking care of Elisabeth. As to keep it this way, we need your help to get us through these difficult times. Regarding the 1 digit number of active cases worldwide, there is lack of any experience even among specialists and more that often we are not getting any answears. Especially about her mouth – she is not able to close it, ears, fingers and eyes. To be honest, Elizabeths future is a big question even for specialists. But we blame no one. Thats why we have to do our own research, seek information and communicate with other harlequin ichtyosis parents. This part is very time and energy demanding!
Just a coincidence, or a destiny?
Right in the beggining of covid pandemy we found orselves without a stable income. For years we ran a small shop in a mall, where we selled supplements for fittness. As you can imagine, terms like shopping mall, fitness and covid don’t go very much along in these difficult times. So we didn’t hesitate and closed our bussiness.
Plans regarding our future started to crystalize within first weeks after Elizabeth was born. We realised that helping not only ourselves, but the others as well is what we want in the future. We just needed her to remind us, that this is what we always have been. Family and children have always been a top priority for us, but we feel we need to dedicate ourselves to things that deeply resonate with us. Money is important, but its not a priority.
Taking care with no days off
Every inch of Elizabeths body needs to be moisturised with a thick coat of cream every 3 hours. Delay causes her skin to harden shockingly quick, like an egg shell, followed by painfull cracks with the tendency to bleed. But covering her body with cream is not enough, to keep her comfortable she needs two baths a day to shed all of the extra skin.
Elizabeth is not able to close her eyes or wink and in order to keep them in good condition, we need to put eye gels and eye drops in them many times a day, even during the night. Lately her cornea became a bit dry, even though we are religious in applying drops. It might damage her sight, so if its not getting any better, plastic surgery might be needed. Maybe even multiple times.
Ears clogg with a mix of skin and earwax with a shocking speed, cleaning them takes quite a long time. Children with harlequin ichtyosis tend to have hearing difficulties, because the ear canal is clogged. Thats why they need to be cleaned on a regular basis at home, but a visit to ENT (ear doctor) is neccessary from time to time, to have them cleaned deeply.
The list is long. Not only we have to do special excercises to help her develop her physical skills, as she is not hitting her milestones. It happened because the shell in which she was born prevented her form moving. Her hands need to be bandaged during the night, as she is not able to open her palms and stretch her fingers. The prognosis, after she was born, were that she was going to loose all of her fingers and toes, because thay were all black. In the end she lost „only“ 2 fingers and 4 toes. So its important for us that she will be able to use her remaining fingers properly. But the bandaging is quite painfull and it has the tendency to bleed, because the skin on her palms is too tight. In the future, plastic surgery will be needed.
Taking care of Eizabeth is so complex, that we, parents, couldn’t be susbtituted by anyone. It is important to think of so many things and details. We couldn’t have her watched by someone else, people have difficulties understanding her thermoregulation. Even when she is admitted to the hospital, the staff have the tendency to take care of her like she was any healthy child. It means they want to keep her warm and bundle her under thick blankets. She doesn’t sweat, so its really dangerous for her. We understand that people are trying to do their best, but if you want to take care of her, you need to understand how her body works.
By the end of year 2020 we both parents got covid-19 at the same time, and our biggest fear was for Elizabeth – we prayed that at least one of us will have less serious symptoms, and could take care of her properly. Thank God it was the case!
Crust with tough roots…
The crust she was born in was very thick and stuck to her body so hard, that none of the recommended procedures like applying special creams and bandages didn’t have a big effect. Plastic surgery was not an option, because nobody really have any experiences with these keratine crusts, thick 6-8 mm. Elizabeth was growing, but the crust wasn’t! As she grew, it started to squeeze her! There was no one we could ask for help, so we were forced by our own consciussness into risky but neccessary procedure – cutting, … with our own bought milling-cutter at home! (similar with dentist’s ones, with many kinds of borers, saws and rotary bits). Courage was not enough, a steady hand and technical skills were crucial. But finally, it worked! And during a few days of cutting, accompanied by our panicked heartbeats and gallons of sweat, our mision was completed. We reached a colosal achievement and Elizabeths skin was changing from to day under our eyes. Deformities were receding and after a week or two, our effort was rewarded – there was a beaufitul baby. The only thing that remained the same, was our love for her, unchanged and neverending.
Thermoregulation, where are you?
There is another big issue with harlequin ichtyosis diagnose which caused us wrinkles from the very fisrt day – nonexistence, absolute lack of thermoregulation. The weakest spot of this diagnose. We can’t tuck her up under a thick blanket or get in the hot car in summer and just ride for a trip, it could be life threatening for her. She doesn’t sweat, so her body could just collapse. The same goes for winter, she could easily get undercooled. So these common situations would be way too dangerous for Elizabeth.
As long as we follow all of the rules – skin regime, eyes regime and making sure she is not undercooled or overheated, Elizabeth is in comfort, happy and interacting with us like other healthy child. Her diagnosis doesn’t affect her mental abbilities, on the contrary, some say that children with harlequin tend to be very inteligent. We love to watch how she is loved and adored by her 3 older siblings, each one of them enjoying her by his/her own way. They reminded us of how much love is in us, humans.
Skin regime and financing Elizabeth in big style
After a long yearned for Elizabeths arrival home we found out, how much time and money its going to cost us. Our plans that one of us could have a career were shattered. Without a help of a nanny, even for a few hours a week, it is impossible right now. But we can’t afford one. We are entitled to 20 eur!!! – yes, that is not a mistake, 20 eur a month from goverment, regarding Elizabeths diagnose. Since she was born, 7 months, we spent more than 10.000 EURO which we were saving for a new, realiable 7 seat car, because all of us didn’t fit in our old one. In the end, Elizabets uncle Thomas helped us like he did many times before and bought us a new car. Since then, we already made more than 24.000 km, most of them to see various doctors in different cities and abroad.
For first 4 months Elizabeth needed to have covered eyes with special hydro-gel tampons, because of a massive ectropium she had. These cost us 14 eur a day, but insurance company covered for them only last 2-3 weeks, even though they were crucial for her not to loose sight.
The list of tools and neccesities is long. Skin regime is the core of care and we are using lotions and cream for atopic skin. Right now it is around 3 liters a month right now, the bigger she is, the more we will use. 1 L is approximatly 35-40 eur. The same goes for special bathing oils, because water alone would dry her skin even more. None of it is covered by insurance, the same for eye gels and drops. Eyelid plastic surgery might be needed in the future.
Cream, cream, cream everywhere, even on the ceiling? LOL
All of the cream eventually ends up somewhere, on clothes, not only Elizabeths, but ours as well. As she gets older and starts to walk, cream would be literally everywhere. Furniture, walls, beds, toys,… In the near future a new washing machine just for Elizabeth will be needed, because her clothes are soaked in it and therefore not only they don’t last long, but the washing machine is something that wouldn’t last long either. Second bathroom will be needed, as she gets 2 long baths a day, and is therefore blocking our only bathroom.
Its snowing! Winter all the time!
Because the skin growth with harlequin is 10x faster than normal, we have our own internal joke – its snowing, because when we lift any piece of cloth like t-shirt, blanket or a towel, its literally snowing from it – pieces of skin. Vaccuum cleaner is on most of the time. We are considering getting a central vacum cleaner, as was reccomended to us by other families who have children with harlequin, but it is not a small investment. They also told us that a regular change of mattrasses, sofa, washing machine, clothes and wall paint will be neccessary and inevitable, because the cream gets everywhere.
Summer hasn’t come yet…
As she spent the warmest months of the year in hospitals, we don’t really know what to expect when summer comes. What we know is that it is crucial to maintain a comfortable enviroment, which means that the air conditioning is an absolute must. We need to get one before summer comes, because the one we have in our house is situated in the living room and her bedroom gets way too hot in the summer. We recently installed a small stove, because in case of power cut we need to make sure she doesn’t overcool. And warm clothes are not enough. When winter started we noticed her skin is even dryier than usual, so we had to buy 2 air-humidifiers.
We need to solve the problem with transporting children to/from school and kindergarden during the hot and cold months, because Elizabeths lack of thermoregulation. Mornings and evenings are crazy for us, as 1 of us needs to take care of 3 kids and getting them ready, while the other one is fully occupied with Elizabeth.
From the very beginning we need to visit various specialists approximetly 1-2x a week, most often in Bratislava, 130km there and back, sometimes even in Czech republic, 300km. Elizabeths diagnose doesnt affect her imune system, but the list of specialists is quite long. Not once were we forced to find a specialist or a tool by ourselves and pay from our own pockets, just because getting it the official way via the insurance would take too long, and we simply had to act right away. This is how it has been since she was born.
First two months – Slovakia and Czech republic
Our baby spent her first month in ICU, where we brought her daily fresh mothers milk, it was the only thing we were able to do for her at the time. Mom fought for every drop day and night. First weeks was a time when we found out, that because of the rarity of this diagnose, we were forced to do our own research.
From the very first day we met only with kindness from veryone in white coat, all of them doing their best.
At the age of 5 weeks we transported Elizabeth to Czech republic, childrens hospital in Brno, where they have most experience with ichtyosis. We spent there a few days and after that, for the first time, we finally took her where she belongs – home.
Unclear expectations before and after
Elizabeth was born 6 weeks prematurely and as we later found out, it might just have saved her life. If she was born later, the hardened skin on her chest might have suffocated her. Until 30 weeks of pregnancy everything seemed ok and we thought we were going to have a perfectly healthy baby. One day, you are living your dream, and in just a moment, your world can fall apart. We were told that our baby has some kind of a genetic disorder, that there are 2 outcomes – first that she will be physically and mentally disabled, or that its the kind of genetic disorder, which doesn’t allow the baby to survive. We were shattered. Both options were equally devastating for us. The worst thing was, that we didnt know the diagnose, we were told just to wait until she is born. The crust that covered her whole body was too confusing on the ultrasound and even 2 specialists didnt detect the right diagnose. Deformities were though perfectly visible on the ultrasound – hands, feet, face.
When she was born, pediatritian who was there during the labour, asked us, if we are strong enough to see her. We insisted on seeing our baby, but it was for just a few seconds, as she stopped breathing and was transferred immediatly to ICU. The rarity of this diagnose is so sparse, that we were given wrong diagnose at first.
New chapter started. Googling, forming first impressions about the diagnose, as until then, we didn’t have any idea that this genetic disorder even existed. Why it happened to us? Honestly, it never crossed our minds. Shock, confusion, anxiety and fear that our baby is in pain filled our whole beings, but on the other hand, we were relieved taht her diagnose doesn’t affect her mental aspect, as during the last 6 weeks of pregnancy, every doctor told us, that we have to prepare for a mental disability.
The end, or the beggining?
Year 2020 was for most people the hardest and most surprising one ever. Even more for our family, but it was also the happiest one. We often get compassion from people, but honestly we don’t see a reason for it. On the contrary. Every new baby that comes to this world is a reason for joy. Elizabeth showed us and the whole world, that when there is no hope, God has his own plans. We were told by someone, that we are just the right parents for her and we totally agree with that. We have concerns about the future, but also the strenght, courage and joy to live it and make the most of it!
(english version 23.01.2020)