Raising your child with an extremely rare dangerous disease

« Sir, can you come to the hospital as soon as possible? » Samir* rushed to the CHU Sainte-Justine after receiving this call, which every parent dreads, in December 2018.

Blood flowed from the umbilical cord of her son, Adil*, born three days earlier.

Adil is the first child in Quebec with a total absence of factor V, a blood protein essential for coagulation. The cause of this deficiency remains unknown to this day.

Only 150 cases of this extremely rare disease have been identified worldwide so far, according to the Canadian Hemophilia Society.

Now three years old, the young boy receives plasma transfusions three times a week.

A matter of life or death, explains Cecilia*, his mother. Without this plasma, which regulates his factor V level, he is at risk of suffering serious bleeding.

The family’s way of life has been completely turned upside down. Every Monday, Wednesday and Friday, Adil’s parents left their West Island home with him at 9 a.m. to go to Sainte-Justine and returned home around 4 p.m.

Cecilia has moved to a part-time, night shift. Samir also shifted his schedule by five days to work weekends. These schedule changes caused organizational and financial difficulties for the family.

An untenable situation. The CHU Sainte-Justine, in collaboration with the CLSC de Pierrefonds, has therefore set up a home plasma transfusion program, a first in Quebec, to humanize the care received by the family.

For us, the family is as important as the child we care for.

Marie-Pierre Pelletier, transfusion medicine nursing advisor at CHU Sainte-Justine

Thus, since July 2022, Adil receives his three weekly transfusions in the comfort of his home.

A unique program in Quebec

“Is it going to hurt?” Adel asks. Even if he winces a little, the child remains very calm when his father inserts the tube which will be used for the intravenous transfusion in the permanent catheter which one posed by operation under his chest.

It is one of the many stages of the treatment process, “a real team effort”, as described by the nursing care advisor, Marie-Pierre Pelletier, who coordinated its implementation.

Every morning of transfusion, Samir takes his son’s vital signs around 6:45 am. He sends them by text message to the nurse who will transfuse the plasma, employed by the CLSC de Pierrefonds or by a private agency. She calls the Lakeshore General Hospital immediately to have a team prepare a pellet of the brownish liquid, which will be delivered in a cooler to the family’s residence.

In all, the procedure takes about three and a half hours, during which time Adil must remain seated on the couch. A challenge that the three-year-old takes up admirably with the help of his miniature « monster trucks », as he was able to observe Subway.

Compliance with nursing practice standards and labor shortage issues, exacerbated by the COVID-19 pandemic, have complicated the implementation of home transfusions, explains Marie-Pierre Pelletier.

« The desire is to train more resources to make up for a lack if we ever find ourselves without anyone, » she adds about the sustainability of the program.

Family challenges

Cecilia becomes visibly emotional as she talks about the difficulties facing the family, which also has two daughters, aged five years and five weeks.

I constantly wished this was just a nightmare, but it is real.

Cecilia*, mother of Adil*

“There are a lot of fears raising him,” adds Cecilia, tears in her eyes. In general, Adil can’t play outside and won’t be able to play sports, other than swimming. Moreover, on Sundays, the parents do not bring their young boy to play with other children. His risk of hemorrhage is greater that day since his factor V level is very low, the last transfusion dating back to Friday.

The mother is upset that they cannot « go anywhere », because of the dangers for her son and because he must be at home from Monday to Friday to receive his treatments. She wants with all her heart to bring her family to Disney World, Florida, or her home country, which is currently impossible.

Time does things well

Samir remembers feeling great frustration when people tried to reassure him during the first months after the diagnosis, which he describes as a period of “denial”. « How could you know that? You don’t know what I’m going through,” he replied.

During the first transfusions, the medical staff strapped their newborn baby to immobilize it. « Seeing my baby like this, crying, I couldn’t stand it, » he explains.

Over time, however, the family adapted to the situation.

Sainte-Justine has become our second home. Everyone knows us.

Samir*, father of Adil*

The parents repeatedly emphasize the constant support and work of the pediatric hematologist-oncologist, Dr. Georges-Étienne Rivard, and the nurse, Claudine Amesse, who treat Adil. “I can never thank them enough,” adds Samir.

Despite better days, Samir and Cecilia are aware that their son’s illness will be a constant challenge, for them and for him. In particular, they apprehend his greater desire for freedom as he grew older, a legitimate desire despite the risks that remain.

The next big step will be school, which Adil will start next year. Sainte-Justine is studying the option of organizing transfusions at the end of the day. « What is planned is that we follow his schedule and adapt the care according to his needs, » says Marie-Pierre Pelletier.

*Names have been changed to protect the anonymity of the family.