The 'skinny' gene

All ready for a recent ballet concert

One of the known features of Beals Syndrome is long slender limbs and fingers. From what I've learnt from other Beals families, this is one of the most noticeable outward factors of Beals and many speak of comments made about long fingers, arms, toes etc. It appears to be linked to the genetic mutations in fibrillin-2 (Beals) and fibrillin-1 (Marfan) as both conditions display factors of increased height, armspan can be greater than their height, and slender fingers (arachnodactyly). Beals Syndrome was previously known as Congenital Contractural Arachnodactyly.

From birth we noticed Evelyne's long feet and long fingers. Even before we knew she had any sort of genetic condition we were aware of their unique shape. One nurse commented at birth "look out Thorpe" (the Aussie swimmer) while we had numerous comments that she "would be a piano player". As she grew we could see more and more, not just long slender fingers, but her overall long, slender shape.

Until recently it has not been a major concern to us as we knew it was a common aspect of Beals. However a trip to the nutritionist, made us realise we need to be striving to put more weight on her. Due to her scoliosis, and her future need for surgery, it is important to increase her body fat. At present she is so skinny, and due to her kyphoscoliosis, her spine is very prominent. This means she gets frequent pressure issues, but it may mean more complications in surgery. The surgery involves rods and bolts to attach, and basically, they just need more flesh to work with to cover over all the hardware.

She does not eat huge volumes of food, possibly due the restriction on her stomach from her brace and scoliosis. So our first attempt involves adding calories without adding much volume. Her new diet is everything I would normally associate with a poor diet. But I've had to change my mindset. As the nutritionist said, for the next few years, sugar and fat are our friends. For every meal I have to add a high fat or sugar content to Evelyne's serve. I either add oil, butter, margarine, cream, sour cream etc. I know of other kids with Beals Syndrome who have not put weight on by diet alone. They have ended up with PEG tube feeds in an attempt for weight gain. This is a good motivation to work hard on her new 'diet'.

Australian Story - Marfan Syndrome

The ABC show Australian Story recently featured a family with Marfan Syndrome.

Marfan and Beals Syndromes are very similar. Marfan Syndrome involves a mutation of Fibrillin 1 whilst Beals Syndrome involves a mutation of Fibrillin 2. They both involve long stature and long slender limbs. However typically skeletal issues (such as scoliosis, clubfoot, joint contractures) are greater in Beals Syndrome, and heart issues (life-threatening defects of the heart valve and aorta) are greater in Marfan Syndrome.

In this episode of Australian story, Alisa and her two brothers were born with this genetic disorder, passed on from their mother. The show explores Alisa's desire to have children, however her concerns with passing on the gene to the next generation. People with Beals and Marfan Syndromes have a 1:2 chance of passing the gene onto their children. The decision of what to do in this situation is very difficult.

Alisa's story is complicated by the fact that due to her heart involvement, her life would be at risk if she bore a child, regardless of the genetic decisions.

Although personally we have decided not to pursue avenues of genetic testing in order to have more children, this is something that Evelyne will have to make decisions on one day.

You can watch the episode via the link below until 21/08/11.

http://www.abc.net.au/iview/#/view/801928