Name: Siebe Debeuf

Sex: male

Date of birth: 07/05/2003

Now lives in: Belgium


Epilepsy info

Diagnose:
Dravet’s Syndrome (first diagnosed February 2004, was confirmed by DNA test. Result of DNA test November 2004)

type(s) of seizures:
all clonic, except last one which was a tonic seizure

frequency of seizures:
first two months: 8/month
Afterwards 1 every two to three months (so it seems to be very few for a child with Dravet syndrome)
He only has febrile seizures, so never without fever, except for the first one


Medications used

Current:
Depakine, Topamax, Frisium and vit B6
Current dosis per day:
3 x 2.2 ml depakine sirup (or 3 x 13 drops)
1 x 40 mg Topamax + 1 x 50 mg Topamax
3 x 0.9 mg Frisium
1 x 50 mg vit B6

We started with depakine, but it wasn’t sufficient, so after one month we started with Topamax, which gave spectacular results.
After a bad seizure in September, we have added Frisium (three times a day). Since then only two more little seizures (due to an ear infection) which were easy to stop with stesolid


Previous:
none


Alternative Treatments

None
But we do have a therapist coming by every 2 weeks to stimulate Siebe and to give us some advice on how to help him with language skills, learning new things, etc. This is very helpful.


Personal Notes

Siebe was a very healthy baby until he was 7.5 months old. He got his first seizure during a little walk. He started shaking with his left arm and leg and he lost consciousness. We rushed home and went to the hospital, where they could stop the seizure with valium.
All in all it lasted for about 50 minutes, so it was a status.
He was hospitalized and different tests were done, to see if they could find a cause. But the results of EEG, MRI, lumbal punction, blood and urine were all OK, so the doctor thought it might have been single seizure and that it wouldn’t happen again.

A week later it happened again. Siebe got another EEG, but nothing special was found. We started Depakine, since the diagnosis epilepsy was set now.
January 2004 was a nightmare, Siebe got a lot of ear infections and had fever almost every weekend. Whenever he started to have fever, the seizures came up (always clonic). The seizures never stopped of itself, so we always had to give him 5 to 10 mg of stesolid.
The depakine was increased every week, but this had no result.
Our doctor suspected after one month that it might be SMEI, because of the febrile seizure and he suggested to get a second opinion at the university hospital in Gent.
On February 9th, we got a confirmation from the professor there that it might be SMEI or Dravet syndrome. Siebe had a seizure right in front of him, so he could see what we were talking about.

Our son was hospitalized again to control the high fever he was having and to do some more tests. During his second day, he had another status. This was a very severe one. Luckily he was already in hospital, but they had to give him such high doses of valium that he had to be transferred to the intensive care unit. He slept for three days, but then gradually got better until he was our active, happy boy again.
All the tests for the metabolic screening were negative, so a blood sample was taken and was sent to Antwerp for a DNA test.
Because the depakine alone was not enough, the neurologists proposed to add Topamax and as a little extra also vit B6. We also gave him 3 months Bactrim (which is a light antibiotic) to prevent any possible bacterial infection.

Since then he had one seizure every two to three months, so that is very good. His development is pretty OK, although there is some delay, but nothing serious up until now.

In September 2004 he had a bad seizure and was hospitalized again because we couldn’t control the fever. The doctors advised us to give him Frisium on a permanent basis. We were afraid that he might be ‘stoned’ because he had to take it three times a day, but that is not the case. He is very alert.

The last seizure dates from December 26th, but this time it was a tonic seizure and not a clonic. This was kind of a shock for us because we have a special watch that gives an alarm when he is shaking during his sleep (it is only for clonic seizures), but this doesn’t work for tonic seizures. We have increased the Topamax a bit and since then everything goes very well. He even had some high fever without seizure, so we are very happy!

I guess we were lucky to have a doctor that had to other Dravet patients, so he knew very soon that Siebe had the same symptoms and that the combination Depakine + Topamax worked best with his other patients.



Update Siebe - February 2006





Siebe is 2 years and 9 months old at the moment. In terms of epilepsy he is doing very well, we haven't seen any seizure for the last 5 months, which is awesome off course. He has had episodes with high fever, but not a single seizure! This was unthinkable last year, but yet, look how things can change.

His development progresses, though slowly. He has been tested recently and his results were those of a child of 18 months, which means he is a year behind at the moment.
Therefore, we have decided to send him to a school for children with special needs close to our home. He will start in march and hopefully the individual therapy and lessons will help him to move forwards.
His language improves, but he still talks in one or two word sentences. We understand him, but other people have difficulties with his vocabulary.
He has had speech therapy and physiotherapy the last 12 months and we are convinced it helped him a lot. He is communicating much better and his motor skills improved quite a lot as well.
Siebe is being potty-trained at the moment and it goes quite well. He has accidents once in a while, but we are sure that the dipers won't be necessary anymore in a while.
We hope this positive evolution will continue once he goes to school.

In general, he is a very happy, social and active little boy, who likes to play around with his little brother.
He doesn't like to take his medication, but it is necessary to keep him seizure-free.
Dosis at the moment (daily):
Topamax: 1 x 75 mg and 1 x 85 mg
Depakine: 3 x 2,3 ml
frisium: 1 x 0.5 mg
He is doing very well on this combination so we will keep it that way. We face the future with optimism and hope and we hope this is the same for other Dravet parents.








Contact

Mum: Ann Jacobs (annjacobslokeren@yahoo.com)


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