Friday the 4th of October 2013. In a void room at the department of Clinical Genetics in Lund, Sweden. We still had no clue that we’d receive a dramatical diagnosis that would forever change our lives.
In the autumn of 2011 was our beloved LL born. Since a birth represents a significant health hazard for E, my wife, everything was meticulously planned. Since LL was not eager to initiate the delivery in due time, we booked a time for “start-up”. As I remember, a medication called Cytotec was used. The result was extremely strong contractions and childbirth out of control and no time to provide any form of pain relief. One midwife told me that she had never been through similar during her twenty years in the profession. This naturally made me worried about the wellbeing of LL. I also reacted to the fact that she did not cry loudly as her big sister had done, not even when she happened to be freezing due to the cold in the room. In addition, she breathed with a deep rattling sound that made us, and even hospital staff, worried about whether she really got the oxygen she needed. Something felt very different already back then.
December 2014 02:50 (at night). LL charges around in the bedroom like a fury. In the bed next to me, it is a wet pool in our washed-out sheets. My turn to go up since E, my wife, took the last session a few hours earlier. Washes LL and notes that pyjama pants, all of them, are in the wash. Whoever invents diapers that really keeps a whole night should get the Nobel Prize. 03.30. The pacifier flies through the air and LL throws herself around in bed in protest. How dare I be so offending to propose a pacifier? I do another visit to the kitchen to fix a new bottle of formula. 03:50. LL is laughing for herself loudly in bed. A clear sign that she is about to fall asleep. 04:00 After that LL has fallen asleep, I go down to the basement to sleep. Is too awakened, so I read Facebook posts and news on my iPhone until I get tired enough. 04:45. Puts aside the iPhone and feel the sleepiness starting its grip on me again. Lose track of time completely. Fully dazed, I hear LL favorite programs Pingu and little feet running around. 06:30. Wake up to the accompaniment of marimbas from my iPhone. Drags myself up the basement stairs for a reconnaissance. E sits in robe with a cup of coffee. LL apparently awake since at least an hour. We quickly make up about who should take the chores with LL this morning. Cooperation willingness from LL tend to be far from the peak level in the mornings, which means that we simply get to choose who should take which fights. 07:40. I leave home with LL and her big sister in the car. LL gets a minor rage outbreak when I temporarily stopped in a T-junction. Luckily I’ve locked the car doors. 07:55. LL shines like the sun when she hugs me and is about to wave goodbye. All cooperation problems disappear magically every morning when we pass through the gate to preschool. I give a status update to the kindergarten staff before I go: LL slept about as usual.
I had since birth a nagging concern. The concern I kept pretty much to myself, but I could not help but compare LL with what I remembered of big sister’s progress at the same age. LL showed little interest in the surroundings or learning to sit up, crawl, or to imitate us. I became more and more convinced that something was seriously wrong. Autism perhaps, or a brain damage when she was born? The rattling breathing-sound continued, sometimes so bad that we were afraid that she would suffocate. The food was also a big concern because she choked on almost everything that was not completely mashed or in liquid form. Other peculiarities was that she could fall out of bed or hitting her head hard on the floor without crying. She never had any tears. Another curious detail was that she had a webbed pair of toes on each foot.
In the autumn of 2012. I am with LL on the child care center for annual follow up. I have taken over the parental leave just over a month back. We have been to the child care center many times before with her because of our concerns, so it’s really not that big news. There will be some questions and display of what she can handle or not handle. It turns out that of the six things that the vast majority of yearlings can do so, she can do just one. The doctor and midwife confer a moment for themselves. Then we meet again and the doctor says he think it’s probably best to refer LL to a specialist pediatrician. He wonders if we have anything against it, which I inform him that no doubt we think that he absolutely must do so. I was already by that time fairly well versed through online forums about different symptoms of young children and the kind of investigations to do.
A month later, we met the child specialist. The rattling sound is suspected to be asthma. We were happy to get a possible diagnosis and to finally try something that might help. A number of investigations get started. MRI showed no signs of brain damage. There were many visits to a pediatric physiotherapist and child psychologist. They run the whole battery of tests on her, stuck her with needles and even took a rather large piece of skin from her upper arm. Other members of the family were also to submit DNA samples. LL was at this time completely terrified of white corridors and people in white coats. What if healthcare were able to create environments that are did not frightened children so much.
Summer of 2013. No samples have yielded any results so we have not yet received any diagnosis. LL has been enrolled at the Habilitation care, but because of the holiday season, it will not really start until after the summer. We get an appointment with another neurologist because of LL’s sleeping problems. I had by then completed a sleep diary for a couple of weeks showing the extremely poor sleep of LL. I myself have since the beginning of the year had to sleep no more than 3-5 hours per day. Both E and I am completely exhausted because we never get any rest. I have read on the internet about Melatonin, which apparently has helped some children with sleep disorders. The neurologist has at first no help to give, but when we plead desperately he agrees to prescribe Melatonin. Apparently it is not approved as a drug for children in Sweden, so he must apply for a license for LL. He warned that this of course will take time and he was absolutely right. We find a quicker solution to begin with. In the United States, Melatonin is sold without a prescription, which means that my brother in New York can buy it for us. We run the same dosage as the doctor had prescribed and crush the tablets into a powder which we mix with baby formula to get LL to drink. Sleep gets hardly better, but even 15 minutes per additional day is a great step forward when having this lack of sleep.
A few months later, we received a cryptic invitation to the Clinical Genetics for advice. As far as we knew, no samples yielded any diagnosis. They wanted to make new samples at LL? What was that about advice? So we went there 4 October 2013 completely unaware of what to expect. We got to meet a genetician who began by asking us about our professions and jobs. Then he drew a brief introduction about genes and heredity. I did not really understand the purpose of this and asked if they had found any real diagnosis for LL. To my surprise, he replied yes.
The news comes as a blow in the stomach. I completely lose the ability to speak and feel the tears trying to break through. Beside me I see how E breaks down. I move me to hold her. We hold each other, still without saying a word. The doctor says that “it’s okay to cry” and “we are in no hurry.” Finally, I say that he can continue. What he just described is absolutely describing LL and explains everything the past two years. LL has a microdeletion of a number of base pairs on chromosome No. 17. It occurs about 1 time in 25000 and has been given its own name: Smith-Magenis syndrome. Symptoms include sleep disturbance, mental retardation, hyperactivity, stereotyped behavior, behavioral problems and self-injury. Any hope that LL would be able to live a normal life dies, there and then. I ask the doctor if there is anything we can do, such as gene therapy. Good question, says the doctor, but unfortunately, no genetic engineering has reached that far yet. We get a copy of a scientific report and the advice to contact the patient association.
I had already been convinced that something was seriously wrong and therefore it was actually a relief to get a proper diagnosis. Now we had something known to go on with and were able to get in touch with others with similar experiences. LL was, after all, the same little ray of sunshine in our lives as she had been before. That afternoon and evening, I read everything I could find on the web about Smith-Magenis syndrome. Among the best were a newsletter from Ågrenska hospital and Cilla’s blog. I started reading Cilla’s oldest blog post and it was like reading about ourselves and LL. I showed Cilla’s blog to E, and she then made contact with Cilla same evening.
December 2014 at 05.30 AM. I and LL are watching her favorite Pingu-Movie together. I have my laptop in my knee while I sit and write these lines. LL suddenly laughs out loud as Pingu just threw a snowball at his friend, the seal. The film gets funnier every time she sees it. She has a great sense of humor!