Robinow syndrome

My son has just been diagnosed with Dominant Robinow syndrome. It is a very rare genetic disorder and finding it hard to find a support group etc. Does anyone have a child with this syndrome?

Belle. My Sister has this condition. She is 22. PM me and I'll put you in contact with her.

How is your Son doing? How are YOU doing? Please don't be frightened by this condition. My sister has lead a very normal and healthy life. She was 5 or 6 before she was diagnosed and was one of the first in Australia to be diagnosed (from memory).

:hug: MG

Hey Mother goose, So glad I found someone else with this disorder.
My son was just diagnosed on Monday with the Dominant form. I have been doing alot of research and I think he may have it mildly as he is quite tall for his age. I can see the characteristics in his face but not that much to think he has got a gene disorder.
The way we found out is because my son has a severe speech delay and the genitices said he was pretty sure my son and husband have this syndrome.
I am really concerned about future children as it is a 50% chance it can be passed on.
I would love to get in contact with your sister, but dont know how to P.M:rolleyes:, I dont come on here that often.
thanks great to speak to someone about this.....

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.

:hug: MG

Hi Belle,

I have spoken with my sister and she is happy for you to email her. I have PM'd you with her email address. Let me know if you need anything else or if there is anything I can do.

MG

From the future pregnancies point of view you may want to find out about IVF with PGD, which is where they test few-day-old embryos, and only put the ones that don't have the dodgy gene back in to Mum.
Test development may be long and expensive for a rare disease (for my dodgy gene it was several years) - but it may also be simple, it really depends on the gene.
Best wishes to you and your family
hugs
Kate

Wow Mother goose, your poor sister...
We have contacted the foundation and they are willing to answer questions we have and they are pretty fast at getting back to us, but it would be great to chat via email with your sister as she has lived through it.
At this stage we have not done any tests on Toby ( CT, MRI or kidney's) as we just found out last week and trying to do as much research as possible and take it step by step.
That is bizzare how nobody in your family has it, as it usually carried down from a parent. We have read that if we have another baby, there is a 50% chance it will get the syndrome that Toby has.
KNM- Im not sure I could do the IVF as I dont think they know the gene that causes this syndrome thats why they cant test for the Dominant form.
Thanks girls for your help, Im still trying to process this all. A bit in denial actually, thinking that my boy couldnt have this but i guess its all part of the process..

It is always scary to find out our children have a medical condition. Especially a rare one. Let me share the same advice with you that I always share with my patients (I'm a nurse). Stick with the now - as tempting as it is, don't jump to the future because we just don't know what it holds. Stick with the now and deal with things as they arise.

It is very bizare that neither of my parents have the gene - but it's true. That's why they were so stumped about it all and probably why it took so long to diagnose my sister. But it wasn't wide spread in Australia at the time. I am saddened to see that there is still a major lack of support for parents and families with this condition.

Don't feel bad for my sister. Honestly, she had a pretty normal life. There wasn't really anything she couldn't do as she was growing up. Even now, her health poses no restrictions on her activities. And she knew no other life. All her surgeries were when she was pretty young. The most traumatic thing for her was probably having braces as a teenager!

FWIW, I think my parents had a lot of the imagine tests done BEFORE the Syndrome was diagnosed - mostly because they were trying to find the cause of things like her recurrent UTI's etc. But I don't think my sister has had any further tests done as she has grown. She just rolls with it. Honestly, there is no reason they can't have a normal life. Sure they might be susceptible to increased UTI's, or cardiac conditions, or pain from skeletal issues. BUT, they can still have a very normal life. Their quality of life needn't be compromised.

Do email my sister (but let me know if she needs a kick up the bum from her big sister if she doesn't reply ;)). She will tell you about her life and experiences. As her big sister (and the person who practically raised her), I'll tell you she is an A Grade pain in the A$$. But she's a pretty cool "kid" and open about her condition. She has only recently gotten hold of some of her info so, like you, is still going through a bit of her own research. But she can certainly tell you what it's like to grow up with it!

And if you need anything, don't feel shy about contacting me.

:hug: MG

Having two parents who do NOT have the gene is really common in Robinow syndrome. The change to the gene that causes the condition might have just happened when the egg and sperm got together or when either the egg or sperm (just one of them) was being made.

I know the diagnosis is really early, but when you are ready to discuss the genetics and the chance of future children having the condition make an appointment with a genetic counsellor who can answer your questions.

Did your husband know that he had this condition before now?

No my husband had NO idea!
It was a big shock to him. We looked on the foundation website, and my husband and son look nothing like the people with this condition.
They genetisis recons Toby and my husband both have eyes wide apart, big head circumference. Tobys is 97th percentile, but his height and weight are in the 90's as well so I would of thought he was in proportion. Their little toes turns outwards, and a few little other things.
I live in W.A and there are only 7 genetisis here and from what I can tell they liase with eachother. What if I wanted a second opinion? Does anyone know if I could go to a genetic counsellor and post my concerns?

Of course you can Belle!

What exactly do they do??
Also I emailed your sister yesterday Mother goose. The more people I can talk to about this, the more I can understand the syndrome..