'Our family are heartbroken': Mum pleas for help for little girl with rare spinal condition

A mum has appealed for help to get her little girl with urgent medical treatment after she was diagnosed with a rare condition.

Roxanne Kelly, aged 6 from Carlow, was born with a rare condition called Arthrogryposis - which causes multiple joint contractures.

Her mother, Máirín Nolan Kelly has asked the public for help and set up a GoFundMe campaign, to which you can donate here.

“Roxanne was born with a rare condition called Arthrogryposis, which severely impacts her physical movement in all four limbs, resulting in her being unable to sit-up, stand, or feed herself. Having been on a waiting list in Ireland for over four years, we decided to seek a second opinion relating to her condition and treatments. After much research, we came across Dr Feldman MD of the Paley Orthopaedic and Spine Institute in the US,” she explained.

After an MRI scan, the results showed that the little girl has chairi 1 malformation and a large spinal arachnoid cyst with spinal cord compression.

“Dr. Feldman and the Neuro Surgeon Dr. Asadi expressed that this is an extremely urgent issue that requires immediate treatment. With this new information now available, the Irish healthcare system had overlooked these concerns. Having waited so long with little communication or help in Ireland, we have decided to go ourselves to Florida for the urgent treatment required. This was not an easy decision for our family, but this is the best outcome for Roxanne,” said Roxanne’s mum.

Roxanne goes to Gaelscoil Carlow with her twin brother, Curtis, whom is her best friend.

“Roxanne’s condition has never held her back, she is extremely intelligent and energetic. She has a love for life and lights up our lives (and everyone else who meets her). She loves to paint, and especially loves unicorns and fairies; she is a real girly girl. She is very patient with everything she commits herself to – you’d be surprised how much she can achieve with her lack of flexibility,” said Máirín.

Due to her condition, the little girl cannot walk, crawl, sit or feed herself.

“She rolls on the floor at home to play and move about and has a customised power wheelchair to get around when outside. She is intellectually age appropriate and goes to school in Gaelscoil Carlow along with her twin brother, Curtis,” her mum explained.

Roxanne has been under the care of Temple St Children’s Hospital since birth, but unfortunately, she has been on a waiting list to get legs and hips surgery for now four years.

After a lot of research, her parents decided to go abroad and seek the help of a specialist.

The specialist found out Roxanne has ahairi 1 malformation; which occurs when the brain does not fit in the skull and has to move out along the spinal cord. She also has a large spinal arachnoid cyst with spinal cord compression, which puts severe pressure on her spine and interfering with spinal signals from her brain.

“Our family are heartbroken and very frightened to have learned that this has been found,” said her mum.

So far, €21,079 have been raised to help Roxanne get the surgeries she needs. You can donate to the GoFundMe here.

"We want to thank everyone for their support and kind words. It is a difficult time for our family and the support we have received from everyone has been heart-warming. Although it will be difficult, with your help we can make such a difference to Roxanne’s future," added Máirín.