Sally Hofmeister’s youngest son, Peter, has Duchenne muscular dystrophy. Together they have had to overcome many challenges, including Peter’s transition from living at home to living independently. The key to managing these, she says, is focusing on solutions rather than concentrating on problems and being prepared

By Emma Bishop

Sally and Peter

Sally worked as a translator, mostly from home, a career which allowed her to care for her four children and in particular Peter, who was diagnosed at four years of age with Duchenne muscular dystrophy (DMD). Such was her bond with Peter, that when he moved to study at Heidelberg University, Sally moved with him. She has spent the last eight years of her working life teaching at an international kindergarten and supporting Peter’s needs.

Two years ago, Peter made the brave decision that he was ready to live independently with 24-hour assistance. Sally moved into her own apartment close by so that she could support Peter when needed, while allowing him to forge an independent life for himself.

From the time of his diagnosis in 1993, Sally has been involved with patient organisations and followed the research into DMD closely. She has been a member of the board of the World Duchenne Organization since it was founded more than 20 years ago as United Parent Project Muscular Dystrophy (UPPMD).

After retiring, Sally was given the task of initiating the Duchenne Community Advisory Board and has served as its coordinator since that time. This is Sally’s story.

“When your child is diagnosed with such devastating disease and you are told he will not reach the age of 20, your life falls apart.”

In my opinion, you have two choices: sit in a corner and cry, or make sure that this short life is as happy and fulfilled as possible, while contributing in any way you can to extending and improving his life.

I see engagement in patient organisations partly as a coping strategy; you get to learn as much as possible about the disease, meet wonderful people who are dealing with the same problems, and give yourself the feeling that you are doing something positive, helping to change things at least for the next generations of DMD boys, if not for your own.

Solutions over problems

Knowing what to expect, what comes next, helped us to focus on finding solutions rather than concentrating on problems. The two most challenging experiences during my life with Duchenne were to see my young 10-year-old son dispirited and depressed after developing a pseudo tumour cerebri (water on the brain) while in the process of discontinuing corticosteroids.

“Every night for almost two months I had to convince him why he should even bother to wake up the next morning. That was excruciating, and far worse than the two surgeries he had to go through!”

In comparison, the second challenge hardly deserves to be named a challenge: we were at the pulmonologists for a yearly check-up when the doctor said it was time to start nocturnal ventilation, there was a bed available upstairs, would we stay? My son and I, although we knew this would be the next step, looked at each other and shook our heads. We needed to go home and talk about it first, though afterwards we both agreed that actually we were prepared for this and might just as well have stayed.

Blindsided by the unexpected

The biggest challenges are when things happen that you are not expecting, things you have not been able to prepare yourself for. Two such events occurred on returning home from holidays: the first time returning from Barcelona with his older brother and a friend, my son was tired, listless, and felt sick. At home I put him to bed, but later he became disoriented and incomprehensible. It turned out he was dehydrated and going into kidney failure!

The next event was even more serious: we got home late, ate something and went to bed. Although on his ventilator, my son suddenly had problems breathing; his tongue and neck were totally swelling up. The emergency doctor took me aside and said it was really serious, he might have to do an emergency tracheotomy in the ambulance—something my son had already documented he would never agree to.

Fortunately, he was fully conscious at the time so would have made his own decision. What was scary about this event was never really knowing what caused it nor whether it might occur again. We were lucky—it didn’t!

I could go on, but I think these are personal experiences that cannot necessarily be generalised. Respiratory impairment and the need to be on a ventilator is mostly manageable once you have gotten used to the apparatus, although you need to be aware of what to do in a timely manner to hopefully avoid pneumonia and hospitalisation—and the signs are not always typical.

A further challenge is that emergency services and staff in emergency departments do not always know how to deal with Duchenne patients adequately, so you as a parent/caregiver/patient need to be well-informed and able to pass on the relevant knowledge in an adequate way. We wave the patient’s advanced directive or living will in their faces and have Parent Project Muscular Dystrophy’s emergency card (in German) to hand. But that is not the case for everyone!

Another important aspect is adequate implementation of the standards of care: this is improving in Germany, and we are really quite lucky in comparison; but even here there are still enough doctors and centres that don’t agree, for example, with the recommendations for early heart medication.

Balancing care with family life

Caring for someone with DMD necessarily impacts your own life and the relationship with the family member. 

“During the early years you have to guard against being too over-protective, balance care for the patient with life as a family, and at least try to lead your own life as well.”

Later, after loss of ambulation and respiratory intervention, everything becomes more challenging: getting up several times at night to reposition your son and/or the mask or to use the cough assist device, make sure he’s comfortable, as well as always needing someone to be there for him if you cannot, is always going to take a toll on your relationship, although I think we have managed reasonably well.

“I must admit that since we no longer live together, I am enjoying being able to do things spontaneously—even if I do have a slightly guilty conscience now and then.”

Have I been provided with enough education about DMD? I don’t think being provided really fits. It depends very much on your medical team. When we started on our journey with DMD, there were no standards of care, and we were very fortunate to be in the care of a professor at Heidelberg Children’s Hospital who did not know much about DMD himself, but was prepared to listen and follow up on the information I brought back from various international conferences and meetings, and research that I had read about on websites etc. We were a good team, I felt.

Even now, not everyone has access to good standards of care and even in some European countries the standard is quite basic, not to speak of some of the poorer countries of the world where it is practically non-existent.

So, I believe it is still the task of parents to access all the information on care they need by using the relevant websites such as their national patient organisation websites, worldduchenne.org and parentprojectmd.org, to mention just a couple. In addition, it is the job of patient organisations to ensure their members are aware of the current standards of care and to insist on, or start working on, their implementation.

Accessing care

There has been no financial burden due to respiratory dysfunction as such. All the relevant examinations are performed free of charge under our health insurance system, which also covers hospitalisation and all the necessary equipment. For a long time now, even before requiring ventilator support 24/7, my son was provided with a second ventilator in case of emergencies and has had a cough assist device for many years. But I know we are very lucky here.

In many other countries, patients or their parents have to fight for access to these life-saving devices—if they can get them at all without buying them themselves.

“Self-education is key!”

Good standards of care

The hospital team at Thoraxklinik Heidelberg is very supportive—we can call whenever there is a respiratory problem we don’t know how to manage ourselves, we can go to the outpatient’s department whenever we feel it is necessary, and they do their best to solve any problems that occur.

Up until today, we have not needed any extra help from the cardiology team. There is a specialist for cardiology in DMD who does a good job of explaining where my son is right now and what his options are. Again, we are fortunate to have a team now who do conform to the standards of care.

My son has assistants, 24/7—mostly students with no medical training. I am mostly available for advice and can generally be there before the ambulance, if that were necessary, and we can call or email either of the clinics between regular appointments as required.

So we are quite well set up.

Although with this disease you can never be prepared for everything. Who knows what tomorrow might bring?

This article was first published in Rare Disease Day 2020 Spotlight Edition, Issue 014

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