This past week Lauren has had a tonic/clonic seizure in the early morning (6-8am) on most days. I think she is having a hard time maintaining ketosis overnight and that is way we are seeing the early morning seizures? Today (Saturday) she has had a few drops which totally caught me off guard. She has gone weeks without a drop seizure. I don't know if she got into something or this is just the course of everything! She has been recovering from being sick so her doctors don't want to change anything till she is better.

A lot has happened these past 7 months and we have received a crash course in Neurology and epilepsy. We still feel like we know nothing but we try to educate ourselves the best we can so we can better help Lauren. I put some of information that we have collected about Doose syndrome for those that have been wondering what it was and what she is going though. Beware-It is a lot of info!

Myoclonic-Astatic Epilepsy (MAE) was first described and identified in the late 1960s by Herman Doose as an epilepsy syndrome, hence its original label, Doose Syndrome.

Doose syndrome or MAE-is rare and accounts for only 1 percent to 2 percent of all childhood epilepsy.

MAE is an epilepsy syndrome of early childhood that is often resistant to medication and for this reason it is typically difficult to treat. It is usually characterized by difficult-to-control generalized seizures, and is idiopathic (no known cause) in nature. The generalized seizure types seen in this syndrome vary, but many of the afflicted children can experience large numbers of seizures daily, part of what makes this condition so difficult to manage. Onset generally occurs between ages one and five, usually in children with an uneventful history.

CLINICAL MANIFESTATIONS

Prior to the onset of MAE, 84% of affected children show normal development; the remainder show moderate psychomotor retardation mainly affecting speech. The seizures usually begin between 2 and 5 years of age. Boys (74%) are more often affected than girls (Doose and Baier 1987a).

*On December 25, 2007 (the day before her seizures started) Lauren was a totally healthy, active, and happy 2 year old. We were just starting to wonder about her speech, but we were not that worried.

Here are some questions that are asked about Doose Syndrome (MAE)

"Why aren't the medications working?"

It is not yet known why some children with MAE do not respond to medications. In many MAE cases, the medications can actually aggravate the condition and increase the child’s seizures and/or unmask new seizure types. Some children with MAE are more susceptible to this paradoxical seizure reaction to medications than others. Additionally, myoclonic (jerk-type) and myoclonic-astatic (drop type) seizures, the most common seizure types associated with MAE, are notably difficult-to-treat seizure types.

"Why is MAE so severe?"

MAE is characterized by difficult-to-control seizures that often occur frequently throughout the day. This can potentially impair and/or disrupt a child’s learning and development opportunities. The focus for parents and treating doctors is to reduce seizures as much as possible. While some children may not have 100% seizure control, their ability to learn and develop can improve with a reduction of seizures.

"Is surgery an option?"

Because the seizures of MAE are generalized, meaning the abnormal electrical activity occurs spontaneously on both sides of the brain – they do not originate from a focal point in the brain – surgery is not an option. Epilepsy surgery is only indicated for those whose seizures originate in a specific area of the brain that can be removed safely (eg lesions on a part of the brain).

Types of seizures described

MAE is a complex seizure disorder that presents as a mixed bag of seizure types. The myoclonic-astatic seizure (also called drop seizure) is the core seizure type associated with MAE. All children with MAE will experience either myoclonic or myoclonic-astatic seizures - or both -other seizure types include absence, atypical absence, myoclonic, tonic-clonic, episodes of non-convulsive status epilepticus (NCSE).

Myoclonic seizure

Most people have experienced an abrupt jerk as they are falling asleep (normal sleep myoclonus) or have jumped when someone gives them a fright and this is similar to the jerk experienced by a child who has a myoclonic seizure. Myoclonic seizures are like being jolted by a mild electric shock. They are like single jolts which may occur frequently throughout the day. They can affect the whole body or just part of it. The jerk can be severe enough to make a child fall. As is the case with all generalized seizures, the child is not conscious during the event but the seizure is so brief that the person appears to remain fully conscious.

*Before the diet and on 3 anti-seizure medication Lauren was having over 100 (to many to count) of these seizures daily. Since starting the diet and no medications this seizure type has reduced greatly. These are what "come back" when she has her bad periods and is in a "constant" seizure with jerks happening every 1-2 seconds. This is when we have had to use her rescue medicine (diastat) to make them stop.

Myoclonic-astatic seizures (atonic or drop attacks)

The myoclonic-astatic seizure is rare and unique to MAE, and is one of the most important and distinct features which helps distinguish it from other epilepsy syndromes.

Like myoclonic seizures, myoclonic-astatic seizures (drop attacks) are sudden, single events. Myoclonic-astatic seizures involve abrupt loss of muscle control causing the person to fall to the ground, often resulting in injury. If a myoclonic-astatic seizure occurs while a child is standing, the seizure may cause the child to slam violently to the ground, perhaps hitting his/her face, breaking a tooth, or causing a facial laceration.Sometimes a child may be mildly agitated or disorientated following an astatic seizure. If injury has resulted, he/she may be duly distressed. For any family and child, the sudden, violent impact and resultant injuries seen with myoclonic-astatic seizures makes them one of the most frightening and distressing types of seizures to live with.

As the label myoclonic-astatic epilepsy (MAE) suggests, myoclonic-astatic seizures are the core seizure type associated with the disorder. In MAE, myoclonic-astatic seizures can be serious because they may be difficult to control, occur frequently on a daily basis putting the child at persistent risk of injury, and because they are only one manifestation of this mixed seizure disorder.

*Before the diet Lauren would have 20-100 of these a day. This is the reason she had to wear a helmet and the cause of most of her injuries. This became her "main seizure". She couldn't be left alone for one moment -she was hurting herself constantly. There were many times where we felt like angels were watching and helping her when we turned away for a second (ex/ having a drop on the top of the stairs but landing away from the stairs and not falling down them, etc). This has been one of the hardest part of this epilepsy. There has been so many bruises, blood, and scrapes caused by these drops! The day we started the diet she had 80 plus drops, the second day she had 20-30, and on the third she had none. That whole experience was a miracle. To have one day where Lauren could walk around and not hurt herself was and is beyond words.Currently the drops have mostly stopped but return when she is having her bad periods. The more we fine-tune the diet the longer the drops have stayed away.

Absence seizures (formerly petit mal)

Absence seizures can appear to observers as though the child is daydreaming or switching off. Because absence seizures may be hard to distinguish from the child's usual behaviour, they may be difficult to detect. They can occur many times a day and are often mistaken for daydreaming.

These absence seizures often accompany myoclonic seizures, especially clusters of myoclonic and / or myoclonic-astatic seizures. If these seizures occur frequently throughout the day, they can interrupt the child's ability to function properly because his/her awareness (and the brain's processing) is being constantly interrupted.

* Lauren would have many of these types of seizures daily. There were times I felt like I was calling her name all day trying to get her "out of it" (which you can’t). These seizures have gone away since the diet. We sometimes think we might see one or two but it hard to tell because sometimes kids stare for short periods of time!

Atypical absence seizures

Atypical absence seizures are similar to absence seizures but, as the name suggests, they are unusual or not typical. The child will stare, as with an absence seizure, but during an event he/she will be somewhat responsive. Like absence seizures, it can appear to observers as though the child is daydreaming or switching off so it may be hard to distinguish from the child's usual behavior and therefore difficult to detect. However, unlike a simple absence seizure, the child may be somewhat responsive and also have more pronounced motor symptoms such as twitching of the mouth, eye blinking, mild head bobbing which may give the observer a clue that seizure activity is occurring. In the case of an atypical absence seizure he/she may be somewhat responsive to and aware of his/her surroundings.

The child may have delayed reactions, seem out of character, be easily confused or agitated. Sometimes the seizures may go completely unnoticed because the event is indistinguishable from the child's usual behaviour. When the seizure ends, the child is usually alert afterwards however he/she will have missed some of what is happening around him/her.

*Before the diet Lauren there were a lot of times she was in a constant atypical absence. She just wasn’t herself! With the atypical seizures I could call her name and she would respond or answer but then would go right back into it. She could function through them but might just walk around in a stupor. These seizures have also stopped with the diet.

Tonic-clonic seizures (formerly grand mal)

A generalised tonic-clonic seizure (GTC) is the sort most people think of when seizures are mentioned.

In 60% of cases, the first seizure seen in MAE is a generalised tonic-clonic seizure. So, for most parents, a tonic-clonic seizure is the first symptom of MAE they will witness and it will strike completely out of the blue.

Initially the child stiffens and simultaneously loses consciousness (so he/she is completely unaware of the event). Tonic (meaning stiff) refers to the stiffening stage and causes the child to fall to the ground. Typically, the eyes roll upwards, the head goes back, the back arches and the arms and legs stiffen. The brain cells are connected to other nerve cells through the spinal cord and during this tonic stage, all the muscles are contracted, including the chest muscles so it is difficult for the child to breathe. A combination of the face being flushed with the bluish blood of the veins and also the lack of oxygen causes the child to turn somewhat blue around the lips - a process called cyanosis. Excess saliva may cause a gurgling sound in the mouth or throat. The result of the muscles in the lungs contracting forces air out, sometimes making the child sound as though he/she is crying out. Occasionally, if the child's bladder is full, he/she may lose bladder control.

After the tonic stage of a tonic-clonic seizure, the clonic (meaning jerk) phase of the seizure begins. The limbs jerk because now the muscles contract and relax in rapid succession. During this phase, the child may bite their tongue or the inside of their cheek. The fists are tightly clenched, the arms repeatedly flex at the elbows and then briefly relax. The legs flex at the hip and knee joint in a similar fashion; the head may flex and then fall backwards. Initially these movements occur rapidly but then gradual slow. The jerking becomes less intense and occurs at a slower rate, finally ceasing. Usually a deep sigh signals the end of the jerking and normal breathing resumes.

The seizure is now over but the child is not awake and will not respond immediately. This recovery phase is called the postictal state when the brain can be thought of as exhausted from all its activity. In fact, the brain is quite active but its major activity is to inhibit (stop) the cells from firing. This inhibition has brought the seizure under control. This postictal stage or recovery time differs from child to child. The child will probably feel like sleeping but can be roused and may feel tired, confused, agitated or somewhat disorientated. Muscles will probably be sore. It is best to allow the child to rest until he/she is alert and fully recovered.

*This is the first seizure Lauren had on December 26, 2007- and she had 3 of them that day. Before the diet she had these mostly when she first woke up in the morning. In the beggining these would happen every 3-4 days during good times. This is the only seizure type we felt that medicine was helping. Right before we started the diet she had a period where she went 3-4 weeks without a tonic/clonic. This is now the seizure type that we are having a hard time getting to stop! She now mostly has them in her sleep in the early morning hours. These are hard because they affect her whole day, they make her so tired and cranky.

PROGNOSIS AND COMPLICATIONS

Epilepsy with myoclonic-astatic seizures (Doose Syndrome) has a variable course and outcome (complete remission in some cases, persistent epilepsy in others) and cognitive development (normal or delayed). Spontaneous remission with normal development has been observed in a few cases. Complete seizure control can be achieved in about half of the cases with antiepileptic drug treatment-but may continue to have learning difficulties.(Doose and Baier 1987b; Dulac et al 1990). In the remainder of cases, the level of intelligence deteriorates and the children become severely retarded. Other neurologic abnormalities such as ataxia, poor motor function, dysarthria, and poor language development may emerge (Doose 1992b).

Various studies over recent years have shown that the ketogenic diet is extremely effective in controlling seizures in children with MAE, and is now considered one of the most successful treatments for the disorder, even more successful, according to some centers, than the more traditional anti-epileptic drugs.

*It is amazing how perspective changes with certain things. When I read the above about Lauren’s prognosis it gave me some hope. In the beginning Lauren had been given the diagnosis of Lennox-Gastaut syndrome, which there is not much hope for a normal life or development. The outcomes for both syndromes can be the same but with doose syndrome there is hope that Lauren will have a chance at somewhat of a normal life. That is why we wanted to get her on the diet so fast. We could see her going down hill very fast. Even though the diet has had its up and downs -the downs are not as low and we never had ups on the medication. We are hoping that the continued fine-tuning of the diet will get Lauren seizure free. It is the unknown of her future that has been so hard.