independent

Friday 20 April 2018

Louise sets up support group to help parents

Swords mum to help parents of children with rare conditions

John Manning

The mother of a four-year-old Swords girl who has a rare type of illness has set up a support group to help parents of children suffering from rare medical conditions.

Ella Dowling was nearly two-and-half years of age before she was diagnosed with Neurofibromatosis Microdeletion Syndrome, which is an exceptionally rare genetic form of NF.

In about half of cases, the condition is passed from a parent, however the other half of cases are a chance event called a spontaneous gene mutation, where the gene responsible for causing NF has a misprint in the genetic code. As there is no known cure or prevention at present, NF is a lifelong condition.

Mum of Ella, Louise O'Keeffe Dowling has now set up a support group called RARE with a number of other families in the same position and you can get in touch with the group through their Facebook page.

Louise said that the group is aimed at parents of children with rare conditions or with undiagnosed conditions who want to talk and get support from other parents in a similar position.

Louise told the Fingal Independent: 'There's been no support at all for parents with children who have rare diseases such as the one Ella has. The knowledge isn't there as it's such a rare disorder so everything I have discovered about it has been on the Internet so we are caring for her with little to no information on what Ella's future might hold because of her rare disorder,'

Louise has found many parents in a similar situation and RARE is aimed at addressing that problem.

Meanwhile, the Swords family had something to celebrate recently when their 10-year-old son, Lee Dowling won a national NF Fighter Award.

The NF Fighter campaign was launched earlier this year by world famous MMA coach John Kavanagh, who lent his support to promote the worthy campaign. The campaign was an initiative by the NF Association of Ireland to raise awareness of the condition, and to celebrate those who are affected by NF on a daily basis.

Ten-year-old Lee Dowling was nominated by his mother Louise for all the help and support he offers his younger sister Ella who has NF. He goes to very doctor's appointment with Ella and keeps her entertained at all times.

Louise said: 'He really deserved that award. He makes a lot of sacrifices for Ella and we are very proud of him.'

Louise is hosting a fundraiser for RARE at The Ploughman's in Kinsealy on November 30th at 8pm and your support would be greatly appreciated. There are lots of prizes on offer and entry is just €40 per table.

Fingal Independent

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