Narges was born with a congenital disorder, her spine and neck vertebrae had been sticking.
At first, there was just a limitation in moving her neck, it means she couldn’t move her head up or down and left or right. When she grows up, her waist gets the curved shape and it gradually gets worse.
Since her birth, she couldn’t bend her phalanxes. The front teeth are sharp like nails and the back teeth are sticking together.
Narges has been visited by several doctors, but they said they haven’t seen a disease like this before and a case like this hasn’t been reported yet. Specialists in the field of spine disorders haven’t been witnesses of such an illness.
Narges has asymmetric nasal cavities. Her main problem is the curve shaped spine and doctors said it might lead to short neck and cause eating, breathing and speaking problems in the future. As she walks with difficulty, she uses her toes and knees to move and it causes deformation. The disease is progressing and the bottom part of the body is getting involved. She feels pain in her waist and feet when she walks for a long time and she must not move her neck en masse.
A surgery is required and it will be so difficult and complicated. She doesn’t use any drugs, just physiotherapy and hydrotherapy are advised to strengthen her lungs to get ready for the surgery. Doctors can imitate AS surgery in order to remove the adhesions between the vertebrae.
Her parents detected the disorder since her birth, also doctors realized that the issue of the bones and skull is different from normal children. They guessed Arthrogryposis, Klippel Feil, and MPS. They couldn’t recognize the kind of disease certainly.
Her parents had genetics counseling although they are not relatives. She has one older sister and one younger brother who are healthy and none of them is sick.
She had been hospitalized in the clinical pediatric center and she was tested for MPS, it is sent to Germany for review, but the disease hasn’t been diagnosed yet.
Rare Diseases Foundation of Iran was introduced to them by the pediatric center and Dr. Ali Divoudian, the Managing Director of the foundation, asked International Affairs and Scientific departments of the foundation to work precisely on this issue, both internally and internationally.