We are the parents of Sari, a Belgian girl of 4,5 years old suffering from infantile Pompe´s disease. Based on the normal development of the disease, Sari would have passed away already, probably before her 1st birthday. However she has been receiving an experimental treatment (enzyme replacement therapy) from the age of 8 months. This has kept her alive. The treatment exist of her receiving the missing enzyme through an intravenous drip.
Trial inclusion
In order for Sari to receive this treatment we had to take her to the Sophia Children’s Hospital in Rotterdam (the Netherlands), which is 180 km away from where we live. She was only diagnosed at the age of 6 months. At that time this was the only place in the world where she could receive treatment and then only in a clinical trial. It took 2 months after the diagnoses for her to be admitted to the trial. She was 8 months old by then and very ill. Her heart was very enlarged, did not function well and her breathing was starting to cause problems. She was already dependant on intravenous feeding.
Trial choice
At the moment Sari was admitted it was not yet known if the therapy would have any effect. We only knew that up until then it had been taken well by three other patients, who started a few months earlier. Also there were hopeful results in studies with mice with Pompe´s disease. We decided we had no choice: not participating would result in Sari’s death, participating would at least give her a chance.
Trial effect of the therapy
Initially it was the intention to drive her back and forward for the infusions, however immediately after admission she fell from infection into the other, which made it necessary to admit her. After 1 weeks of treatment she was finally transferred to the intensive care during a critical airway infection. After some doubt it was decided to put her on a respirator. Once again a choice which really was not a choice given the insecurity of the result of the therapy at that moment. Shortly thereafter she receive a trachea-canule.
Because results where forthcoming it was finally decided to double the doses of the enzyme with all participating patients. About 4 weeks after the doubling up Sari was visibly getting better. First the heart function improved, then she started breathing herself much better and she had more strength in her upper body (head, arms, shoulders). At a given moment she could breath without the machine for 5 days! She could sit straight up without support for a full minute. There was even talk of removing her canule; she would be able to come home then. Unfortunately she was again plagued by infections, of the porta-cath(*) as well as the airways, which weakened her and she needed respiratory support again. Unfortunately she slowly declined to where she is now.
Trial-family life
Ultimately Sari was hospitalized at the SKZ (Rotterdam) for two years, of which 20 months on the intensive care unit. First she was to weak to be transferred to a treatment center closer to home, Other matters came into play later: the infusions in Belgian, choosing the right breathing apparatus. It all needed to be sorted out. It was new for everyone involved. In the end even an unfortunate broken leg was involved. All this time we had lived separate as a family, we had a second home at the Ronald McDonald house, close to the hospital. Mother had to stop working and stayed with Sari during the week. Father worked partly in Belgium and partly in Rotterdam and took care of the other two children. Weekends we were mostly together in Rotterdam. We divided our time as good as possible between Sari and the other two children.
Situation now socially
Since the transfer to Belgium everything has slowly evolved to the situation the way it is now. Sari is admitted at the rehabilitation center for children, at a specialized department for respiratory disorders. The medical care is geared to taking care of a child with her limitations. She is in a living group, follows different therapies daily (physical, speech etc.), goes to school and stays the nights as well.
For the moment she is home every other weekend. During this weekend we take over all the intensive care taking. We both received training for this at the SKZ(Rotterdam) She also receives daily physical therapy, alternating by our self and a neighbor-physical therapist and we regularly invite someone to come and play with Sari.
The whole home care process is very heavy, physically and mentally, for us, 24 hr care for someone who is totally dependant, as well as the normal daily household chores with 2 children, is not an easy matter!
We have to get up several times at night for alarms of machines, taking care of Sari, or change her position in bed. We are exhausted after each weekend.
Transportation has special demands. We usually need a Red Cross ambulance with a supporting team. So far mother, who is also a nurse, accompanies each transport.
When Sari is at the Rehab center we visit her regularly, even though it is 110 km away from where we live. We also ask family who live close by to visit her
When Sari is seriously ill, usually due to an infection, or for tests, she is admitted at the University Hospital of Leuven (Belgium). Admission is always on the intensive care because of the respiratory support. During the past 2 years she has been admitted 12 times. These periods we are extra vigilant and family live is extra disturbed.
Situation now physically
The heart problems she used to have are almost gone. Regretfully the therapy does not have the same effect on the other muscles in her body. They become weaker, slowly but surely or they cannot follow her growth, which makes her more and more dependant on medical support and aids. She is continually on respiratory support through a trache/canule* and is fed through a feeding pump through a gastro/stomie *. She is wheelchair bound wit an adapted sitting shell. In this she can sit up straight for only a few hours a day. The strength in her arms is declining more and more lately which limits her. She is also faced with scoliosis * and contractures* on the hips, knees and ankle joints, therefore she needs braces a couple of hours a day. In addition she is suffering from a slight hearing loss. She needed to wear hearing aids for a while, which is no longer necessary.
Situation now mentally
Despite the many physical limitations Sari is developing mentally fairly normal. She is reading books, plays games and crafts on the tablet on her chair (coloring, puzzles, memory etc) and even plays with the computer with a special mouse. Despite the canule she is developing a voice, she is forming more and more understandable sounds and is trying to sing along. We are even capable of having a phone “conversation”.
Infusions
Momentarily the infusions are given every two weeks. Until recently this was weekly. Sari has receive a port-a-cath* after 12 weeks which is used with a syringe every time she has an infusion. Usually the mother does this and Sari agrees with this.
The infusions take several hours. Usually they are started around noon and by the evening the whole process is finished. During this time she has to process lots of fluids. This is why she regularly gets extra “plasma medication” on the infusion day. The infusion speed is very slow in the beginning, to get the body used to the strange enzyme. Then it is gradually increased.
Sari has had a reaction during the infusions a couple of times. She gets restless, feels uncomfortable, and gets a high fever, irregular hart action and sometimes discoloration of the skin. Fortunately this happens rarely when she is already weakened because of illness before the infusion.
We, the parents
We have been on the tips of our toes for a couple of years. Always vigilant, always under stress, always uncertain on what the future will bring. And usually tired. When Sari is ill, the tension increases. We constantly have to fight for the quality of live for our daughter, for ourselves and for the other two children.
Regularly we encounter institutions, administrations, persons who are not well adjusted to the needs of a child that requires so much help.
In the past there has been some uncertainty about the availability of the medication. This brings additional stress and uncertainty.
Brother and sister
Both our other children are reasonably well under the circumstances. They have difficult periods as well as we do.
They have been through a lot as well. First the news their sister was going to die, then the news that “the doctors were going to try to cure her”. Then the long period of the weekly traveling to Rotterdam. The confrontation with seriously ill, sometimes dying children on the intensive care. Having to do without Mommy or Daddy on a regular bases. The uncertainty of Sari´s future. They live and work through it in their own way.
We from our side try to be open and honest with them and answer in understandable language to difficult questions they sometimes ask. They have an extra special contact with Sari. For them Sari is a second sister, they play with sing songs with, read book with, make jokes with and so on. They form a fantastic activity therapist duo.
Worries
At the moment we have a very good contact with Sari and think she is still happy. Our main Concern is that she will, in spite of the treatment, become increasingly weaker, that she will becoming more and more aware of her limitations and one day will not be happy anymore. We ask ourselves regularly if we are giving her enough quality of live. If we are doing the right thing by continuing treatment. We are living in constant insecurity over her and thus our future. A prognoses is not available, isn’t there?
We are also concerned about the effects for us and the other children as well. Sometimes we wonder if we will be able to keep all of this up.
Tips and ideas
In what follows we are trying to give some ideas and tips from our own experience that can be useful for parents about to let their child participate in a new trial for Pompe´s disease. We want to emphasize that each case is unique and that decisions need to make based on the personal situation and in consultation with the treating physician.
- It is your choice to have your child treated or not. There is no such thing as the right choice. You have to decide on what you feel right with. Nobody can take your place!
- Not participating means a short severe pain, but also certainty.
- Participating means uncertainty no matter how you look at it, for years in the future. There is little known about: – The effect of the therapy – The optimal doses – The consequences in the long term – And more You need to be well informed by an “informed consent” form and this needs to be discussed with the treating physician.
- The effect of the therapy depends strongly on how far the disease has progressed and when you start it. The earlier the better. A few weeks difference can make a big difference in the results.
- The effect of the therapy is also strongly dependent on the doses that are given. Inform yourself beforehand with which doses is started, what the maximum doses is they CAN give and when it will be decided to adjust the doses. At the moment it has not been determined what the optimal doses is.
- It is and will be for the moment an experiment, with hopeful expectations. It is not unthinkable that your child will become dependant more and more on medical support even respiratory support. Decide BEFOREHAND how far you want to go.
- Apart from all this participation has large consequences for your social and family live. – It may mean you have to travel a lot, depending on where treatment takes place – Your relations with friends are tested, stay yourself. Sometimes it is difficult for other to understand your situation. It is unique. – Also your relationship with your partner will become strained. – If you have other children, do not forget to give them your attention. We have found it very useful to keep them informed of important decisions, no matter how much if would influence their lives. We try to keep quality time available for them.
- Try not to overdo it. An exhausting time is lying ahead. Take time to relax, both physically and mentally.
- Try to talk to people you can trust. Be prepared for the most different reactions. You will find that you suddenly do not hear from people close to you. On the other hand you will probably get support, help and understanding from people you would not have expected it from.
- Ask for professional help on time, for yourself and your children. Nobody is prepared for a situation like this.
- Finally: participation should not cause financial surprises. Inform yourself on costs that you will have to pay. What these will be in the long term is uncertain.
- Strongly emphasize that you as a parent are your child’s advocate. Although everyone involved with their care has their best interest at heart, your child and your family are the people that must live with the decisions that are made, and you are your child’s voice at the table.
- Keep a journal/notebook to detail the physicians, tests, procedures, contact information. You will be inundated with information and this provides one resource as well as a historical record of what occurs
- Don’t wait for the enzyme to start working to enjoy your child. Live and cherish them you as they are today?.and celebrate even the smallest of victories!
Word explanation
Trachea Canule – a plastic tube that is put in the airway operatively and through which air is blown in the lunges by a ventilator.
Porta-cath – a metal box operatively place under the skin, usually shoulder height, through which medication is given. The box is injected each time with a needle.
Gastro-stomie – an opening in the stomach wall through which a small plastic tube directly pumps food into the stomach.
Scoliosis – a deformation of the spine in an S shape.
Contracture – a permanent deformation of a joint caused by not using muscles