Heart problems

There are a lot of symptoms of Dravet syndrome that are undocumented, probably because it is a relatively new condition only being identified and named in the 1980s, but also because there is so little research into it because it is so rare.

Our support group and charity, The IDEA League, set up and run by parents for parents (and professionals) has discovered many symptoms or co-morbid conditions of Dravet syndrome. These include:

- skeletal problems like ankle pronation and scoliosis of the spine that often occur from age 8 onwards and into puberty;
- poor growth and nutrition resulting in the need for gastrostomies in many children;
- behavioural problems including autism and ADHD; and
- immune weaknesses and deficiencies, often it seems IgA but sometimes others.

The most recent problem that has come to light, and perhaps the most worrying, is heart problems. A few of the children have been found to have heart arrhythmias and this was named as the reason for Scott's death last week.

The problem is, what to do? Do you demand to see a cardiologist when there is no written evidence to support it. We already see an orthopaedic surgeon once a year to check for ankle pronation and scoliosis, should we ask to see a cardiologist to check Laura's heart? Would they just think we are being extremely anxious parents and scaremongering. But what if something happened and we hadn't asked for it to be invesigated?

Hopefully these co-morbid conditions will soon be documented so that our kids can be regularly screened for these conditions. Meanwhile I think I will ask Dr Jay when we see him in the summer holidays.