From what does Thomas suffer?

It is very complicated to explain, but let give it a try.

The medical condition of which Thomas almost certainly suffers is called Hypokalemic Periodic Paralysis. This means that within Thomas' muscles there is a chronic misbalance of Potassium. The total amount of Potassium in his body is within the normal range, it happens to be at the wrong place. All Potassium is inside the muscle, generating an electrolytic misbalance.

How does that originate?

That is not yet clear. A couple of renowned institutes are doing studies to this phenomena.

In the cell membrane, there are small 'valves' who carry different kinds of electrolytes in and out the cell. These electrolytes are responsible for the energy balance of the cell. If the cell membrane works as it should, all electrolytes are in balance. This is called a biochemical balance.

As soon as the cel (for example a muscle cel) has to contract, the valves are controlled. This generates an electrical disbalance. Due to that the muscle is able to contract.

Inside Thomas' body, this mechanism does not work properly. The valves act different from how they should, they stay in the 'open' of 'close' position. When in closed position, Potassium is not able to leave the cell interior. When in 'open' position.

In Thomas' case there is (as we suspect) a lack of Potassium. Due to this lack, his cells cannot work properly.
If the cells are not working properly, it hence a paralysis. This paralysis can be caused by a number of different factors. A few of these factors are:

• Rest after exercise (e.q. walking the stairs followed by standing still)
• Heat (being a short time in sunlight)
• Cold (Going outside in the winter, which causes a small decrease of body temperature).
• Temperature changes (Coming in a heated house during the winter)
• Eating/drinking of carbohydrates (potatoes, bread, fruit etc.)
• Eating/drinking of sugar containing food(e.q. fruit)
• The use of sweeteners (aspartame, sorbitol etc.)
• Long periods of inactivity (for example sleeping)
• Being scared
• Repetitive motions
• Load noise
• Odours (for example gasoline fumes)
• and a lot other which we did not figure out yet.

Danger....

From research we know that an injection of 100 mEq (miliequivalents) KCl for certain results in heart failure. The heart is extremely sensitive for changes in Potassium levels. Due to the fact that the KCl is orally taken, the absorption in the body is slower. Therefor this risk is limited.

Thomas uses 180 mEq KCl a day!!!!! Per dosage he uses 30 mEq and often after 30 minute 30 mEq again. This helps him for more or less 2 hours. After these two hours his Potassium level is decreased so much that the paralysis occur again. He has to feel for himself what dosage he needs. This can be 5ml to 15 ml.

Sometimes 5ml is not enough effective. A second dosage of 5ml can overshoot the effectiveness, due to which his strength will decrease. How this works has still te be examined, but Thomas wants to finish his senior year at school. After that, he will be hospitalized for extensive examinations.

The EKGs at the left show a clear difference. the top EKG is made by a patient with e severe shortage of Potassium, where the bottom EKG is made by a 'healthy' patient. The striking difference is the flattening of the EKG. The amplitude decrement of the P-wave, the degrade of the QRS-complex and the flattening of the T-wave is characteristic..

An overabundance of Potassium will decrease the natural pulse function of the heart so much that it will end in cardiac arrest. The QRS-complex than is so severe degraded that no pulse is visible anymore.

Due to the fact that there are so many triggers to start a paralysis period, it is very hard to stay 'stable'.

Is this defect repairable?

No. In the DNA is an error due to which the generation of the cell  membrane contains faulty ion-channels. Nothing can be done to prevent that. The only thing you can do is to make sure that the Potassium levels stay within the acceptable range.

What was a 'normal' day for Thomas?

In average Thomas tries to awake before 7AM. In most cases he is fully paralyzed. This means that he is incapable to move. His legs, arms and thorax do not obey the commands from his brain. It surely is controlled, but his muscles simply do not work. In rare occasions he is direct fully awake. This is due to the fact that he woke up several time through the night. In most cases he wakes up fully paralyzed, unable to move his eyes, open his mouth. Sometimes he only can move a finger or a toe. To overcome his condition, he has to be able to sit up to take his KCl. Therefore it is important that he at least can swallow, which is not always possible. Sometimes it succeeds in 30 minutes, other times he has to wait two hours. Getting out of bed differs every day. Sometimes he can walk shortly after taking his medicine, sometimes he has to wait several hours. If possible he tries to take his medication as soon as possible. This starts the recovery. Even then it takes up to 4 hours for him to be able to sit independently. Walking of staying are than impossible.

Mostly around 1PM he is capable to get out of bed. This is now possible since he got his KCL prescribed. After that, recovery speeds up which means that around 3PM he functions 'normally'. In most cases this is the moment he starts with his school activities.

Around 6:30PM it is time for dinner. After dinner he tries to keep up his social life. Thomas has a few very good friends who under all conditions visit him almost every day. As parents we think this is marvelous. In exceptional cases Thomas can go outside for a few hours. Around 10PM it is time to slow down his activities. If not, his nightly paralyze attacks will be more severe, which has consequences for the next morning.

Around 11:45PM it is time to go to sleep. His day lasted from 7AM to 11:45PM. Effective from 3PM till 10PM. But, it is not possible to compare his activities over the day with a 'healthy' kid of his age. He is able to stay up, he can walk and he can eat. But under no condition he is able to go to school, he cannot go to a bar, he is not able to go shopping for his hobbies, he is not able to walk the dog (not even for a very short time), his hand are not enough controlled to write for his homework (he uses an iPad), he is most of the time airless and his muscle strength changes all the time.

Does his condition improve?

Yes. Fortunately we did get medication with which Thomas feels a bit better. He still is paralyzed every morning when he wakes up, that is not changed so much. The difference is the he recovers faster from his paralyses. Therefor he uses three types of medication and keeps to a very strict diet.

That helps him to be able to go to school a couple of days every week. He travels by taxi. Remember, public transportation costs so much energy that he will become paralyzed when he is arrived at school and sits down in the classroom. His classrooms are all situated on one floor and the work that has to be done is a 'desk job'. He is able to sit almost all day. All this together makes it possible to attend a few days a week to his lessons.

Although he is more mobile, his body still feels like he gained a severe flue. Painful muscles, breathless, nauseous, dizzy, 'foggy' in his head and out of energy. These symptoms are hard to handle and difficult to suppress.

Can it improve?

We certainly hope so and we want to learn a lot about it in Orlando. Later on this site, You can read the paper about the congress.