Femke was a perfect baby, always smiling, just slept when she was tired and after some fiddling with the bottle feeding, colic (and vomiting) disappeared slowly.
From the first visit to the consultation clinic, Femke was below all the all-important 'curves': she was too short, too light and her head was too small. There was no reason to worry, because everything was in proportion beautifully, she developed very well and there is a family history of small heads. Femke is our pretty little girl, and nobody's worried.
At each inspection of the clinic Femke remains below the 'curves', and the doctors are beginning to worry. Eventually they decided to refer us to the doctor, with a request to send us to the hospital for an ultrasound ("echo") of the skull. But here was no hurry, for there were no complaints.
The doctor was confused by the request to be referred to the hospital, because she could find nothing wrong with Femke. And she really had NO idea what they wanted with the echo of the skull... but she still wrote the referral.
When we finally get an appointment at the hospital for the ultrasound, it is our turn to be confused, because according to them we should have been send for an X-ray. This referral didn't cover an X-ray, so they still go ahead with the ultrasound which tells us nothing.
So... now 3 months have gone by, and we still know nothing due to a miscommunication of the consultation clinic. This is not the first time the clinic has let us down, and we have been calling them the 'constenation-clinic' a few months now.
The manner in which the constenation-clinic is communicating with us is progressively getting worse, and after a few bad meetings with one of their doctors we made it unmistakeably clear to the supervisor: If we ever see that doctors again, we will never come back.
When we finally get an appointment at the hospital for the ultrasound, it is our turn to be confused, because according to them we should have been send for an X-ray. This referral didn't cover an X-ray, so they still go ahead with the ultrasound which tells us nothing.
So... now 3 months have gone by, and we still know nothing due to a miscommunication of the consultation clinic. This is not the first time the clinic has let us down, and we have been calling them the 'constenation-clinic' a few months now.
The manner in which the constenation-clinic is communicating with us is progressively getting worse, and after a few bad meetings with one of their doctors we made it unmistakeably clear to the supervisor: If we ever see that doctors again, we will never come back.
We get a new referral to the hospital, to go see a pediatrician. After half an hour of examining Femke, he tells us he is only a trainee, and leaves to discuss his findings with the actual doctor. After being left alone for another half an hour, finally the both of them get back to us, only to do the whole examination all over again.
Femke is COMPLETELY fed up with being examined, and does everything possible to make him go away, which doesn't help. Finally they decide to refer us to a ophthalmologist and a neurologist, to find out if they can help us figure out why Femke is hyperactive. Her constant movement, in combination with her small head is a puzzle for him and he would like to find some answers, if there are any.
The simple fact that we haven't been send away with a written note to the constenation-clinis that they should stop wasting his time, troubles us. Could it be that there actually IS something wrong with her? I can't sleep, and decide to Google the internet on the keywords "small head" and "happy". The very first result is a site about the Angelman Syndrome.
Instantly we remember that Google is a very poor doctor, switch off the computer and try to forget about this finding. But there were a lot of symptoms we recognised...
At the ophthalmologist we find there is nothing wrong with her eyes, and get a follow-up appointment in a year. One down, one to go. Let's see what the neurologist will tell us...
By now our little girl has her first birthday, and we celebrate with a great party with a lot of familiy, cake, cupcakes and a real piñata! Up to now, she couldn't really crawl. She was working really hard to figure it out, but she just wasn't moving. On friday, March 16 it finally happened: she crawled! From that moment on nothing was safe in our house, and following our dog Bobby around quickly became her most favourite thing to do.
When we get to the neurologist, she isn't completely happy with what she sees, and orders an EEG and a blood examination. This time however, we won't just leave. We want to know what she's worried about, and keep asking her questions. Finally she tells us: She's worried Femke might have the Angelman Syndrome. This wasn't the news we wanted to hear...
The EEG is to find out if Femke suffers from epilipsy as well, one of the symptoms of Angelman.
Taking Femke's blood went just fine, according to the ladies that worked there. I just looked at the bloodspatter on the floor and the wall... that never happened when MY blood was taken! Femke didn't seem to mind, and got a new toy for not crying. The research itself will take 2 months, so it's a waiting game again.
On April 10, 2012 Femke gets her EEG. They need to stick a lot of electrodes on her head, which takes a long time. In the beginning she's just fine, but after 20 minutes she's had enough. She starts to fight back, and putting the last electrodes on her is a real struggle. Finally, after more than half an hour, they are finished and Femke calms down with a bottle of milk, in the arms of mommy.
The EEG itself only takes half an hour, and they refuse to tell me anything about the results. I just want to learn more, and ask them about what they can tell about what they see on the screen. "Waves, sir", is their answer. Well, yes... I could see that myself... But every wave represents something different, so what do they represent? They tell us the doctor will call us with the results in 2 weeks.
At April 25 we get the call from the neurologist, about the EEG. She tells us they found no sign of epilepsy (HOORAH!!!), however there are signs of 'higher backround activity'. We don't understand what this means, but apparently other patients with Angelman show similar activity.
This does NOT mean Femke actually has Angelman, the bloodexam should give more answers. And those results will not be ready untill June 27.
Against better judgement we search the internet again, and find a lot of information no parent should have to read. Please... don't let this be true...
On Thursday, May 24 we get an unexpected call. The lab has done their job faster than expected, and we can come in to hear the results.
On Friday, May 25 we finally get the news: Femke has Angelman Syndrome.
So.... now what?
On Friday, May 25 we finally get the news: Femke has Angelman Syndrome.
So.... now what?
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