Belle - my sister also had delayed speech. She really didn't learn how to talk until she was about 4. We all had to learn sign to communicate with her. She is also rather tall and you'd have no idea by looking at her, that she has such a condition. Last time I saw her she was about 173cm. She has a "bubble" forehead which just means it is a little more rounded than others and also sticks out a bit. But it isn't noticable. She also has "bug" eyes (I'm a wee cruel to my little sister ) When she was a baby, her nickname was frog because of her eyes and forehead.

She has slightly shorter forarms which is common with dwarfism (Robino's is a form of dwarfism). She has had some neuroligcal issues. When she was younger she would frequently get stabbing headaches - she described them as though someone was stabbing her in the head. It only ever happened when it was REALLY hot. We combatted the issue by soaking her hat in water when she was playing outside. She rarely gets these headaches now but has reported them to me a couple of times. But she has only had 1 or 2 over the last few years. At one stage they did a series of tests on her brain and discovered that a portion of her brain was "dead". It had no activity. It must have been a section of the brain not used because she has no side effects from it (although it never stopped me from telling her she was brain dead ). She has no intellectual disabilities from this. She is a very smart girl (when she applies herself!). She dropped out of school for social reasons at the age of 15 but was an A grade student before that. And she started a Uni degree last year.

Some other issues she had included kidney issues. At the age of 6 they discovered that only 1 kidney ever worked at any one time. She had constant UTI's. They were sure she would need a kidney transplant before she was 10 and I was earmarked to be the donor as I was a match. But she hasn't needed it. Her last test revealed her kidney's were now working normally! having said that, I'm pretty sure she had surgery on her kidneys at one stage because I remember her hemorrhaging at home from a wound there.

When she was born, she had a hole in her heart requiring open heart surgery. She was the youngest person to have her kind of Surgery in Australia at the time. She was about 10 months. But they don't know if the heart issue is a result of Robinow's or something else as my brother also has a heart mumor. She has had no lasting issues with her heart but still has to have annual checks with a cardiologist.

She had major issues with her teeth. Her mouth is just foul to be honest. She had 6 teeth out when she was about 6. Her teeth were literally rotten. They weren't sure if it was the syndrome or all the meds she was on. But they came out. Unfortunately, two of the teeth were the Front two on top and they didn't come down on their own. She had to have more surgery when she was about 10 or 11 to bring them down.

Please don't be frightened by the things I've written. My sister has honestly had a normal life. They (doctors) didn't want her to play contact sport because of her brain and she has a soft skull because her fontale didn't close properly, but she still played any sport she wanted. She was the toughest kid on the footy field and even did Karate. She has never had long spells in hospital. All her hospital admissions have been either asthma related (but everyone in our family has asthma on both sides) or surgical reasons.

My sister has Von Willingbrans which is a blood clotting disorder. It means she is more prone to bleeding.

Over the last two years she has had more mystery illnesses. She is constantly tired, she has been admitted via Emergency on a couple of occassions because of abdominal pain which they can't find a cause for. But these could be anything - not necessarily the Syndrome.

The issue for my sister is that she is one of the first in Australia to be diagnosed. When she was diagnosed, there were only a handful of people world wide who had the condition and they weren't that old. They didn't (and probably still don't) know that much about the condition or what to expect as they grow up. A lot of medical professionals don't even know what the condition is - have never heard of it!

It is a bit of a mystery how my sister landed with this condition. None of my immediate family (Parents, my brother, or myself) carry the gene. We don't know how my Sister got it. She hasn't thought about having kids - it's so far off her radar it isn't funny!

I will contact my sister and make sure she is happy to talk to you. Then I will send you a PM with her details.

MG