Detailed medical background

We have come on a long Journey with Ava since November 2009. There have been innumerable and sometimes painful tests, treatments and biopsies on Ava. The various symptoms were misleading and at times misdiagnosis has happened.  But eventually through the hard work and dedication of the team at Kinderklinik Schwabing and the Genetics team at the Helmholtz centre we finally got a diagnosis for Ava using Whole Genome sequencing funded by the Klinik themselves.

Ava suffers from a very serious disorder called Brown-Vialleto-Van-Laere syndrome (BVVL). It is a very rare neurological disorder which presents with sensorineural deafness, bulbar palsy and respiratory compromise. There are only 73 reported confirmed cases of BVVL in the last 100 years of which there are only 13 alive today. It is genetic disorder and cannot be cured, the Riboflavin transporter genes do not function properly so the brain is starved of Riboflavin.

After Ava received her diagnosis last year she entered into a trial of daily oral Riboflavin oversaturation plus Ubiquinone to try and halt the progression of the disease. Thankfully since starting the treatment she has had no further deterioration of her disabilities and for the moment is in a stable condition....we are elated.

This is not a cure, but if it can give Ava a longer, better quality life than this is for us amazing and we feel very blessed.

We continue on our search for additional help for Ava we are in discussions with various doctors, with stem cell providers, with genetic organisations and, very importantly, with other parents whose children suffer from this terrible disorder. This network of parents offers support and a cross reference of treatment across Europe and USA to ensure consistency and a sharing of information.