first steps after diagnosis

After diagnosis, patients and relatives fall in an abysmal hole, emotionally. Apart from emotional hardships, further difficulties occur because of this: often, information doctors provide is not perceived correctly. 
   
  

On the other hand, it takes some time until one is ready to ask questions oneself: 
  

1) because one is too shy to ask them, still (one gets rid of this awkwardness as time goes by)

2) because questions come up in ones head too late

3) because information one gets is not processed as far as one can pose questions out of it.
 


At this point hold true: take your time to get a grip on yourself emotionally, to some extend; get rid of your awkwardness and ask your questions. Noone has a grudge against you asking your questions until you gain understanding. Admit, on the other hand, that  the doctors don´t know an answer to your question immediately:
 
a) because one cannot predict the course of tuberous sclerosis in detail;
 
b) because tuberous sclerosis is a rare disease and only few doctors have really good knowledge about it. Most doctors will have to read  a little bit about it before they can answer your questions.
 


At this point, I will write about some steps to take, especially in the beginning. Most important are those which have to be taken by parents of  affected children.
   
  

Children

    

Necessary steps are based on the clinial presentation of the disease. If rhabdomyomas of the heart are found prenatal, delivery should take place in a centre where doctors are apt at coping with heart failures in childhood, that they can give a hand immediately if problems occur. (I´ve heard of only one case where they had to do a heart operation intrauterin because of rhabdomyomas). These decisions will be made  with the obstetrician during the ultrasound examinations.

  
 

After birth there will be follow-up examinations at a neuropaediatrician. Following recent studies, it may make sence to have EEG-scans regularely and start antiepileptic therapy when EEG-changes are found (even without spikes which are typical for epilepsy) before epileptic seizures occur.   
  

In any case, development diagnostics should be made as soon as your child doesn´t develop like others of its age.  Any child may develop at its own pace and take its time learning the things you need in life , and normally it doesn´t have to develop "standardised" all the time.  But if tuberous sclerosis is known, slow development may be a signe of the disease.  Early Support might be necessary now.

Subsequently, speech therapy, physiotherapy and / or  ergotherapy may be necessary.

If these therapies are necessary, some countries provide financial help.
  

Inevitable follow-up examinations will be scheduled by the treating doctors, following the recommendations of the "International Tuberous Sclerosis Complex Consensus Conferenmce" 2012  .
  

Parents of an affected child should undergo genetic  and clinical examination in any case, to get information about the propability of  genetic inheritance of tuberous sclerosis.  If a parent is affected, the likelihood of transmitting or already having transmitted tuberous sclerosis to a child is 50%! If there´s desire to have children appropriate advice will be necessary.  It is unlikely that other children get tuberous sclerosis, if none of the parents has it. Genetic testing is required in three generations (children, parents, grandparents) to find clinically "asymptomatic" carriers.
  
Consider: just because it might not be obvious already, it doesn´t mean it is harmless!

 

Adults

   



 If  tuberous sclerosis was diagnosed in an adult, there are, too, several follow-up examinations necessary. These tests, too, will follow the recommendations of the "International Tuberous Sclerosis Complex Consensus Conferenmce" 2012 .

Genetic Testing should be considered, due to the reasons mentioned above.