On October 9th last, the Pernicious Anaemia Society and the Pernicious Anaemia forum reached a milestone...Joshua joined as the youngest member of the PA society and of the forum.
Joshua is a 13 year old boy who was just recently diagnosed with Sub-Acute Combined Degeneration of the Spinal Cord, secondary to PA (SACDSC). He almost died before this diagnosis was made. Joshua (JJ) became ill in January of this year. During the time leading up to his diagnosis he saw many doctors and many hospitals. His paediatrician knew there was something wrong but again because of his age did not think to check for B12. JJ saw a liver specialist at Sick Childrens’ Hospital in Toronto. The liver specialist diagnosed him with Wilson’s Disease after a biopsy, but did not do a follow up even refusing to return calls from JJ’s mother. In the meantime, JJ's condition was getting worse. He was turning a nice shade of yellow that made his father think that JJ was in the early stages of liver failure. JJ’s paediatrician contacted the liver specialist at Sick Childrens’ Hospital and got no satisfaction from that doctor. The paediatrician believed that JJ’s illness was a problem with his blood and he contacted a haematologist at Sick Childrens’ Hospital whom he knew personally to ask him to see JJ. An appointment was set up but before that happened JJ collapsed and was unable to walk.
It was through the efforts of the paediatrician that the parents were able to get JJ admitted into Sick Childrens’ Hospital within a very short time. This hospital is located in Toronto, about a 50 minute drive by car from JJ's home. His father carried JJ out to the car and along with his mother, JJ was taken to Sick Childrens’ Hospital, his father carrying JJ into the hospital upon their arrival. It did not take very long for a team of doctors including a paediatrician and a haematologist to diagnose JJ’s illness...a B12 deficiency. JJ’s parents were told that JJ made history because his B12 level was the lowest recorded, a level of 0.
JJ remained in hospital for a week and a half with further tests being done. These tests confirmed PA and a later test confirmed SACDSC. And JJ is only 13. With the diagnosis of PA, Wilson's Disease was ruled out. JJ returned home, confined to a wheelchair. His parents were taught how to inject the B12 and JJ was on high loading doses of cyanocobalamin and folic acid. He was put on 40mg of folic daily (8 tablets of the 5mg prescribed) and will continue on this amount until Oct. 30th when he goes back to Toronto to see the doctor. The doctor explained the high amount of folic was needed because JJ was not absorbing vitamins at all. JJ is also on high amounts of calcium.
Martyn Hooper, the Chair of the PA Society has the same form of Pernicious Anaemia as JJ. Upon hearing JJ's story and the fact that JJ was confined to a wheelchair moved him deeply, consequently he grabbed a flight from his native Wales, traveling to Canada to meet with JJ on our Canadian Thanksgiving Day, October 8th. We met up with JJ at a neighbour's home close to me, the very same neighbour who had alerted me to what had happened with JJ. JJ is slowly improving, he had graduated from a wheelchair to a walker with wheels. Martyn was able to answer some of JJ's questions, particularly why JJ was having trouble with balance and walking.
Last week, his mom called me to tell me he was trying to use crutches. Good for JJ. He cannot go to school and the doctors think it may be January before he can go back. In the meantime, three schools have asked Martyn and I to go in and speak to them about Pernicious Anaemia. JJ’s school has asked for our help to let the students know what pernicious anaemia is and how they can help JJ when he returns. The other school is where JJ’s father is employed. What irks me most though is JJ needs a laptop, he is unable to hold a pen or pencil in his hand (an early sign of PA neurological damage is not being able to make a fist) and the school board is unwilling to provide him with one. Shame on them!!!
The haematologist and paediatrician at Sick Childrens’ Hospital who diagnosed JJ are writing a paper about JJ...they were astounded that, although Juevenile Pernicious Anaemia (JPA) is rare, a simple B12 test was not done.
I think everyone should have their B12 levels and Folate level checked on a yearly basis. This blood test could save your life or the life of your child.
