Maddie was born 2 weeks past her due date after a completely non-eventful pregnancy. She weighed 8lb, 14oz & appeared to be incredibly healthy. The labour was ‘textbook’ & we were allowed to go home just 10 hours after she was born. For the first few days of her life, she slept a lot, but we were told this was not normal & to be thankful. She would have slept through the night if we didn’t wake her for a feed, although we never let her do this.
Maddie's first seizure involved her eyes deviating to the left for a few seconds. She did this a few times a day & we were told it was probably normal baby movements by the midwife. She was between 8/10 days old when we noticed this. Within a couple of days, she started turning her head to the left when her eyes deviated. A couple more days passed & her body began stiffening down the left side. Each time the midwife/health visitor said it sounded normal. Then, one day when she was 18 days old, she had several 'episodes'. After one, her breathing sounded difficult, so we took her to A&E. Her breathing settled, but we mentioned her 'episodes' & they thought we should keep her in so they could see for themselves. She had one in front of a paed who said it wasn't normal.
About 5 or 6 hours after arriving at hospital, we were taken to a ward. Her seizures then started occurring approx every 5 mins for 3 or 4 hours. They organised an EEG right away which showed abnormalities. Then they gave her a loading does of IV phenobarb which stopped them dead, but knocked her out for 36 hours. After this time, I noticed her arm twitching slightly. This progressed until it was apparent the seizures were coming back.
Maddie was in hospital for 3.5 weeks. During this time, the hospital was unable to control her seizures. She underwent so many tests – lumbar punctures, numerous blood tests, MRI, CT scan plus a number of metablolic tests amongst other things. After 2.5 weeks, we were doing all the work in hospital interms of recording seizures etc, & after a week of this they said there was no point keeping us in & sent us home.
At this time, Maddie was having multiple seizure types. She had frequent myoclonic jerks - sometimes just her hand or leg twitched, sometimes her head turned completely to the side & her mouth contorted. Sometimes her eyes deviated left or right & her pupils dilated. Sometimes she appeared to be trying to sit up. A common one was for her to look like she was 'gurning' - she smacked her lips/chewed, sometimes turning her head to the side (not usually) & often raising her arms at the same time as if holding an invisible barrel in front of herself, sometimes vomiting. Sometimes she twisted her head & body to one side, went stiff, then jerked afterwards.
Her seizures usually lasted between 5 seconds & 3 minutes, averaging about 40-90 seconds. On her best day she had 9 seizures, on her worst it was 81 (that we observed). They seemed to happen when she was drifting off to sleep or when was waking up, although the eye deviations could occur when awake. She didn’t seem to seize in deep sleep.
She started on phenobarb, then they added sodium valproate. She also tried pyridoxine & calcium Folinate. Next they added clobazam. This gave us a reduction in the number of seizures, but made her so sleepy we couldn't wake her for a feed. We tried a biotin, then vigabtrin was added several month later – again, this seemed to work for a couple of weeks & we had our first seizure free day, but they came back just as before.
Developmentally, Maddie wasan’t really progressing. She had little/no movement or head control, didn’t focus on anything or react to sound (apart from to startle at loud noises) & she cried a lot.
Our doctors weren’t very forthcoming with possible diagnoses until I approached them with a list I had researched from the internet. As what I had researched closely matched their initial thoughts, they decided to start talking to us. We initially considered SMEI (Severe Myoclonic epilepsy of infancy), Othaharas Syndrome & West Syndrome, amongst others. I joined various parent support groups looking for answers, but nothing seemed to fit. Then I heard of MPEI & found Harry’s website. As soon as I read it, I burst into tears as I knew that this was what Maddie had. We went to our doctors wilth a stack of evidence I had researched & told him what we thought. He had never heard of MPEI, but after reading our research, he agreed this was most likely what she had. At our request he contacted Dr Richard Appleton at Alderhery to get his opinion & he agreed it was likely. At this time Maddie was 6 weeks old. We spoke to various neurologists who all had their own opinion (including an extremely disappointing visit to
Things have calmed down a lot since Maddie first got sick. She now has 10-20 seizures a day, lasting up to a minute. The seizures are almost always the same – her eyes will deviate, her head will turn to one side & she will raise her arms up in a ‘fencer’-like position (like she is holding a bow & arrow). Her legs will straighten, sometimes one will kick, & she will be totally stiff. Sometimes he seizures make her cry, other times she doesn’t seem to notice them. They rarely occur when she is awake, & are almost always when she is falling asleep.
Maddie is currentlt on a combination of levetiracetam & topiramate which she has just started on a few weeks ago, but which we believe is helping. She is also on the ketogenic diet (it took us a 10mths of fighting to get her on this). We are not sure if it is helping or not, but she is certainly a much happier little girl than she used to be, so we think it may be.
Maddie has only had 3 hospital trips – her first extended stay, an overnight stay when we thought she may be going into status (she didn’t & has never needed rescue meds so far), & then for a week whilst we started on the keto diet (just as a precaution although she took to it like a duck to water!). We are so thankful for this & pray she continues to be so healthy. Her worst illness to date is just a cold.
Maddie has physiotherapy once a month & portage therapy to stimulate & develop her cognitively & physically once a week. So far, eye tests show that she can see, although we’re awaiting further tests to find out if there is any impairment at all. We have also been referred to OT.
Developmentally, Maddie is progressing, just very slowly. At 15 months she has yet to gain head control, but she is always trying & can hold it for short periods of time. She can grasp objects if placed in her hand & wave them around. If she is lying on her back, she loves to be tickled, & will kick her legs & wave her arms in appreciation. She also smiles now – not spontaneously but when you interact with her, & it is the most amazing feeling in the world to see her so happy. She can track objects if moved in front of her slowly. She can also still drink from a bottle & eat pureed/mashed food too which is fantastic. She loves to be cuddled & loves to be stimulated & we are so thankful that she has a way in which she can interact with the world around her. She is so brave & amazing & is an inspiration to everyone around her. If she can still smile with all she is going through, then who are we to complain about a bad day?!
If anyone wants to contact me, my email is firstname.lastname@example.org