28th February - Rare Disease Day

28th  February is Rare  Disease  Day, a reminder that  we  need to work together to inspire hope and change across all health conditions.

A rare disease describes  any disorder that affects only a small percentage of the population. Although their disease may be rare, patients and families share common struggles with anyone living with a chronic disease, albeit with less awareness. 

For Rare Disease Day 2021 we want to raise awareness for and pledge our support for patients living with rare diseases and their families.

As part of this  commitment, we reached out to a MTM (Myotubular Myopathy) CNM (centronuclear myopathy) ‘warrior’ mother. We wanted to hear the ups and downs the family faces  whilst caring for Marius, a 3.5-year-old boy who was born with a rare muscle disorder.    

What is the easiest way to describe MTM CNM? 

To briefly describe this genetic defect is almost impossible, as the manifestations can be very different. Basically, patients living with MTM CNM have little muscle strength, which leads to problems with breathing and swallowing. As a consequence, many affected people are ventilated and fed through a tube.

How does your daily routine look like? 

Our daily routine is determined by Marius’s care. He is ventilated 24 hours a day, tube fed and monitored, which provides his heart rate and oxygen saturation. Furthermore, Marius has to endure multiple suctioning sessions per day.

There is no easy answer to the question of how often Marius needs to be suctioned. If it needs to be done, it just needs to be done – whether it is during the day or at night – the important thing is that it’s done quickly – this means being alert 24/7. In addition to this, it is also important to wash, change and mobilise him. Marius also has therapies almost every day. These include physiotherapy, early intervention, and speech therapy. You also can’t forget that Marius is a 3.5-year-old boy who sometimes just wants to flick through a book in his wheelchair, play something, watch TV, or get some fresh air.

When was this first diagnosed, and what kind of help did you receive after receiving the initial diagnosis? 

Marius had to be delivered by C-section in the 34th week of pregnancy. He had to be resuscitated immediately after he was delivered. He could not breathe or swallow on his own and had marked hypotonia (floppy infant). At two days old, Marius was transferred to another hospital in Austria, where the search for a diagnosis began. Four months after his delivery, we finally received his diagnosis. 

The hospital helped us as much as they could to prepare for life at home. They also helped us arrange out-of-hospital intensive care at home. Nine months after his birth, Marius came home for the first time, and we have been supported by competent and loving intensive care nurses from CURAplus Family Care ever since.

What do you find most challenging about caring for someone with a rare disease? 

The uncontrollable. For instance, an infection that could be life-threatening for our child. Every time, you just hope Marius will survive that, as well. There’s also the bureaucracy. If we didn’t have the wonderful support of a whole network of nurses, doctors, therapists, etc., we’d run out of energy fighting some things sooner. 

In respect to treatment, what approaches have you experienced and found to be the most, and least, beneficial? 

There is no treatment in the conventional sense. At the time being, we can only provide Marius with therapeutic support.

What is the best way to do to make Marius laugh?

Marius enjoys his life in Austria, within his family to the fullest and is a happy child. It’s the little things that make him laugh. Whether it’s his favourite TV series or when his big brother plays with him. We try, within reason, to make small trips as a family to at least show Marius the “world”, but this has become more difficult due to the current Covid-19 situation. In addition, we have even been able to enjoy short trips as a family to escape our daily routine, at least for a short time.

Is there a special story you would like to share with us? 

There are so many special stories with a special child. I could easily fill books, even entire collections, with these valuable and often difficult experiences.  

Do you get any support from associations and charities involved with Marius’s condition?  Who are they, and how do they help you? 

We receive a lot of support from associations as well as private individuals. Thanks to this generous, also financial support, we can make a lot of things possible for Marius in terms of medical aids.

 We are also very happy to be a member of an association called “CNM –Together Strong! e.V.”, a selfhelp association for myotubular myopathy and other centronuclear myopathies. The association funds research to treat centronuclear myopathies, which of course is a glimmer of hope for all those affected by it, and for their relatives. The interaction with other affected families does well and of course you can benefit from the experiences of others. The visits of the RED NOSE Clown doctors Austria are particularly worth mentioning. Over his 9-month hospital stay, Marius received twice-weekly invaluable visits from the clown doctors, ideal for a getaway from everyday hospital life. 

Thanks to the positive response from Marius to these visits, the idea was born to visit sick children at home. Therefore, we were able to experience great moments at home with the RED NOSE clowns. The visits are currently taking place online, due to the pandemic. When one of the clowns laughs from the laptop, it always puts a smile on your face and is almost a therapy. It is not just laughter therapy either, Marius also becomes a little more active and tries to participate.

What do you think people should know about rare diseases, or is there anything you would like to share with a parent who has recently received a similar diagnosis for their child? 

It is not important whether a child is healthy. All that matters is that they are loved. Even if a diagnosis likes this turns a family’s life upside down, it is important to face it and fight.

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