Name: Jake Austin

Sex: male

Date of birth: 24th November 2000

Now lives in: Uithoorn, The Netherlands


Epilepsy info

Diagnose:
Dravet's Syndrome, March 2003 (August 2004 confirmation DNA Mutation)

type(s) of seizures:
Tonic-clonic, myoclonic, absence, atonic, partial (the longest tonic-clonic seizure lastet 5½ hours!)

frequency of seizures:
October 2004: at this moment mainly myoclonic and atonic attacks. Rarely a tonic or a tonic-clonic (most of the time we can indicate a reason for that, i.e. fever or an infection

Medications used

Current:
Topiramate (Topamax)
Depakine
Keppra

Previous:
Zarontin – Ethymal
Tegretol


Alternative Treatments

Jake regularly visits a homeopathist


Personal Notes

The story below is written by the parents of Jake; Anneloes and Marcel. It concerns personal notes, that not always indicate the right medical term for a seizure. But in between you will also find many expressions of hope, anger and frustration.
With the course of the time (and thanks to many questions, because many physicians do not give information! Excuses for those who do!) we have learned more about epilepsy and now we can conclude, that in the beginning we named some seizures wrongly.
We also begun to invent nicknames. We talked about “Myocloontjes” (which is Dutch for little myoclonic jerks) and also Marcel gave Jake the nickname Shaky Jaky because of all his shocks!
Fact is however, that it was the intention that this would be a very short summary of what Jake and its parents had to go through, but it has become a very long story instead, in which many aspects are not even described.
This story is mainly focused on Jake and not on Anneloes and Marcel. That sounds logical, but parents with a "special" child know what effect any seizure has on their emotions, their energy, their fears and certainly also on their relation.
At the moment that this is written (November 2004) Jake is doing fine and all the effort of everybody appears to pay off!
Jake is a cheerful, joyful, naughty little boy, who once in a while falls over, very occasionally starts jerking, but further not seems to suffer too much from his seizures at this time. Jake is however somewhat retarded (he does not speak) but is developing slowly but surely! Also Jake’s physical development is behind with regard to kids of his age. But where nobody can defeat him: his sweet, strong, carefree, enjoyable and intensive hugs!




Jake, February 2001, everything seemed ok!



Jake's first epileptic seizure
Jake (almost 4 months old, on 21 March 2001) was not feeling to well and therefore he lay between the two of us in bed. Because he was still very small, he lay on his back and Anneloes was holding his hand hand (because Jake used to swing with his hands, which kept him awake most of the time). We slept all three calm until Anneloes all at once felt his right hand pull. She woke up immediately, thinking Jake was having a dream and she tried to calm him and and awake him. This attempt was however not succesfull!
Marcel was however fast awake and both we immediately though of a feverish convulsionver, so Anneloes rushed to get a thermometer. At that time, also jake's right leg began to shock. Unfortunately the thermometer indicated no high temperature. Because of this our fear increased and we decided to take Jake to the first aid at the hospital.
Within a few seconds we drove with a speed that resembled a formula 1 world champion, we speeded through the town center and through various red traffic lights in the direction of hospital (fortunately it was six oçlock en the mornings and there was little traffic or police). Jake was lying on Anneloes' lap. Close to the hospital (meanwhile the seizaure was going on for about 20 minutes) came the large fright: Jake stopped to convulse, but also did not move anymore. We thought the worst, Anneloes held the little guy upsite down and tapped on his back to see if there was any reaction. Then finally a small hawking sound arose! My right foot went deeper on the throttle and as we arrived at the hospital, the little guy slowly came back to life!
Once Arrived there, something started, where we now look upon as a long way full of uncertainty, obscurity and frustration; the long way and battle for the right diagnosis and how will we deal with this situation?
The first step on this road was already very frustrating. Since we had not called in advance to the ER, we were told to sit down and wait (when there were no other patients whatsoever!), although we though just a feew minutes ago that Jake was gone. Later the doctor told us there was nothing they could do, except observate him, so he had to stay in the hospital. Their first conclusion; epileptic seizure, but because no new seizure occured, we were told to go home!

The second seizure was there, 7 weeks later!.


11 May 2001, seven weeks after the first seizure, the second followed. This time the twiches begun with the left leg, quickly followed by the left arm. After 2 minutes Anneloes gave stesolid and Jake’s seizure stopped almost. However not completely, even worse; the right leg also joined the seizure, as well as the left eye. In total, the seizure lasted about 20 minutes.
The doctor was called and he told to visit the ER for a check up. Jake was hospitalised for an EEG and a MRI (the MRI will however not take place until the 16th). Both scans gave no significant abnormalities.

19 May 2001, 8 days later the next seizure already occured. The seizure was limited to the left side, beginning with the arm. In total, the seizure lasted 23 minutes. After three minutes Stesolid was given, however the result of that was not noticeable until appr. 15 minutes after the seizure started. The jerks slowly became less and the arm also became less stiff. After he came out completely, Jake fell asleep right away.

27 May 2001, again eight days later. This time the right leg began and the twiches remained on the right-hand side of the body. On request of hospital, there has been taken off blood and urine.

Contact

Jake's Website: www.jakewiesenfeld.nl
Mum: anneloesmulder@caiway.nl
Dad: m.wiesenfeld@zonnet.nl


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