Hello everyone! This is our 3y old son Patrick. When he was born the doctors noticed that he has Broad and medially deviated thumbs, Duplication of left 5th toe and Cryptorchidism.

When Patrick was only 6 months old we started to realise that something is not right. Around 1y old after we did a genetic test, it was discovered that Patrick was born with a very rare genetic condition called RTS(Rubinstein - Taybi Syndrome). After the results he was submited to more check ups and investigations and the doctors discovered other conditions related to RTS:

-Mild dilatation of the ascending aorta

-Hypotonia 

-Duplex Kidneys

-Obstructive sleep apnea (using CPAP)

-Delayed motor milestone 

-Bilateral myopia with astigmatism. 

By now Patrick had 2 medical intervations: Cryptorchidism surgery and Adenoids and tonsils surgically removed and he is on the waiting list to have 3 more intervations for his hands and toes.

Patrick is Global developmental delayed, he doesn't speak and still can't independentely walk long distances and for this he needs plenty of therapy to help him through.

Now we are doing twice a week Physiotherapy and once a week Speech and language therapy and Occupational therapy.

The cost of this therapies is very high and we are trying our best to help him as much as we can but at times it is too much even for us and every little help it will be very gratefully appreciated.

Thanks for taking the time to visit my JustGiving page.

Donating through JustGiving is simple, fast and totally secure. Your details are safe with JustGiving - they'll never sell them on or send unwanted emails. Once you donate, they'll send your money directly to the charity. So it's the most efficient way to donate - saving time and cutting costs for the charity.