Jod’s mother, Pad, will always remember the most disastrous day of her life. It was the day the doctor told her, “There is something wrong with him, but we don’t know what it is. We need more blood tests.”
This came as a shock for Pla. Everyone in her family was healthy. They were a middle class family living a simple life in a suburbs of Bangkok. Pla sold local food and her husband worked in a factory.
Pla took great care of herself during the pregnancy. And Jod was born uneventfully at full term. However, he developed rapid breathing on the second day of his life. Doctors suspected that it was neonatal infection. He was treated with intravenous antibiotics for a week at a university hospital. After returning home, it was easy to take care of him and breastfeeding went well.
Jod had constipation when he was 26 days old. He was not able to poo for four days. The doctor said it was not a concern. But he started to throw up after feeding. There was no other choice but for him to be hospitalized. His symptoms got worse and he began to sleep a lot. He vomitted yellowish matter frequently. The doctors were mystified. It was terrible nightmare for Pla.
Jod had several blood tests and invasive procedures. A tube was inserted into a big vein of his neck. Another tube was placed into his windpipe (trachea) through the mouth or nose to assist his breathing. He also had multiple blood transfusions because of bleeding and shock. He became unresponsive and was transferred to the paediatric intensive care unit. At that time, doctors suspected that it could be chicken pox infection instead.
Pla was terrified, helpless and hopeless. She was very anxious and afraid that Jod would not survive. “He will not survive.’ This simple sentence said by a doctor was burned in her memory and traumatized her for the longest time.
The test results came back after a long wait. Jod is diagnosed with Methylmalonic Acidemia (MMA). Pla was worried about the cost of treatment. She had never heard about this disease before. Jod has an older brother who is healthy. Pla was perplexed. She kept blaming herself, ‘Why did this happen? What did I do wrong during my pregnancy? Did this happen because of something I ate, stress or not enough sleep?” The doctor reassured her that MMA is caused by an abnormal gene. Now she understands the cause of the disease and no longer blames herself.
It is never easy to explain Jod’s disease to her relatives, friends and neighbours. She tries to tell them that Jod lacks certain enzyme to digest some proteins. These proteins become toxic and accumulate in his body which makes his blood acidic. However, most of them do not believe her and do not understand his diagnosis. They think that he only has a food allergy. It is also difficult to explain Jod’s condition when she attempts to make medical claims.
The family lifestyle has changed since Jod got his diagnosis. Previously, Pla took care of her elder son in a simple way. However, Jod needs special care especially when preparing his food. Pla quit her job a to take care of Jod. Sometimes the family income is not quite enough and they need to borrow from friends and relatives.
Jod is now 18 months old. He is active, lively and easygoing. His development is delayed. However, Pla is confident that she can take care good of him and knows exactly when Jod is getting sick. If Jod does not have any bowel movements for two days, his blood will become acidic and needs to be hospitalized.
Jod’s meals are prepared separately from his family. This could become a big problem when Jod is older and has to go to school. He can have only milk, fruits, vegetables, rice and eggs in limited amounts.
Pla is impressed with the medical teams, doctors, nurses and medical students who took care of Jod and tried to cheer her on. She feels thankful for having a good doctor to consult when Jod gets sick. Additionally, all her peers who knew of Jod’s condition prayed for her to remain hopeful and for Jod to be cured. They always encourage her to be strong for him. Pla hopes that one day there will be medications to cure Jod’s condition. She dreams that Jod can live as an ordinary child, to play and eat as other children do.
Finally, Pla would like to encourage all parents of children with any rare diseases to give the best possible care for their children. No one knows how long these children will live. Everyone just have to do their best, with what they are lucky to have.