Hope grows for Eva Fini

By Edie Johnson
GOSHEN — Another year passed, and once again the canopy tents went up at the Albert and Aimee Fini fundraiser for their daughter Eva and other young girls like her who struggle daily with Rett Syndrome.

Eva's four beautiful sisters — Olivia, Victoria, Gabriella, and Sophia — helped organize the event on the Fini estate. A threatening sky held at bay while the tents filled with dazzling items donated by businesses across the tristate area. They were to be auctioned off later in the evening, at a party with orchestra, candlelight, and a literal boatload of food and drink. All proceeds go to the parent foundation, the Rett Syndrome Research Trust.

The sisters shared in letters how much they have learned from Eva's courage, persistence, and ways of communicating — with a glance, a brush of the arm, or dancing eyes.

Eva does not speak. Young children, mostly girls, afflicted with Rett Syndrome lose their speech and much of their motor coordination at about the age of two. Many develop more serious complications, such as seizures and an inability to walk.

Eva strode out as beautiful as ever, but with a new confidence. She successfully completed first grade in Goshen this year. She learned to read, write, and communicate with a special apparatus called a DynaVox, a speech generating device. And while her challenges increase, her cognitive ability is judged to be intact. Countless hours of therapy have strengthened her motor skills. She approached with her mother, Aimee, with a special grace.

Each item donated included a touching personal message of hope to the Fini family that new research will find a way to reverse the effects of this disease.

Good reason for hope
Rett Syndrome is caused by a mutant gene that causes the faulty firing of neurons. Because the defect is on the "X" chromosome, it is found almost entirely among girls.

Now that the specific gene has been identified, scientists have been researching ways to modify the faulty transmissions, whether by actual gene therapy, nutritional treatments that can enhance brain functioning, and physical therapies that help to strengthen connections. They have opened a horizon for therapies done in recent years on mice and rats that successfully reversed the disease. But until this year, treatments have been used only experimentally, on animals. This year, that has translated to the very first clinical trials.

No one is using the "cure" word yet. But the word "hope" is no longer a distant yearning. Why? First, symptoms can nearly be exactly replicated in mice, showing a good potential transfer of results. Second, the mice's condition can be reversed even when their disability has progressed to being very severe. Third, there has been a lot of progress in therapeutic stem cell applications, gene replacement, regeneration of diseased genes and muting the actions of overactive neurons.

Something else has changed as well. Federal funding for the disease has been sparse because of its rarity. For years it was lumped in as a variant of autism. But autism has received a lot more attention in recent years, as have all neurological disorders. A spillover effect has a group of top scientists intrigued. They know that understanding Rett Syndrome better can shed light on other disorders, and on brain functioning in the general population.

Just recently, Dr. Monica Justice of the Rett Syndrome Research Trust published a groundbreaking paper showing a relationship between cholesterol and metabolism in Rett-afflicted girls. Further trials will be necessary, but it suggests that statin drugs may be able to be used to treat Rett symptoms. A better understanding of metabolism may shed additional light on the disease.

Still, resources are slim, and lots of additional funding is needed.

For those unable to attend the event, a charitable donation may be sent to:

Rett Syndrome Research Trust
67 Under Cliff Road

Trumbull, CT 06611