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We were told to take him home & give him all the love & time that we had – Chantelle

Hanno was born on 15 February 2011. He weighed in at 3,001kg and everything was perfectly normal. The gynaecologist told us that Chantelle had a model pregnancy without any problems. Nothing out of the ordinary was picked up on blood tests, sonar’s and scans. Everything was perfect.

At the age of two months Hanno was already able to lift his head and his development and growth was good and within normal limits. He was a strong baby for his age.

At the age of four months we realized that Hanno is very floppy, especially his neck. We first thought it was because boys are usually a bit lazier than girls. It was in the middle of winter, so he was always dressed warmly. He was breastfed and he fed well. At four months he just suddenly stopped.

We suspect that his condition started then. In August 2011 Hanno was diagnosed with Spinal Muscular Atrophy ( SMA 1) and it was said that he only had two more months left to live, four months maximum.

We were told to take him home and give him all the love and time that we had. We had to keep him happy and comfortable. Certain medical procedures (Mic-key feeding tube) and chronic medication was written up to make things “easier “. At birth we took his stem cells, but was told that they would have the same defect, therefore they would be of no use. (his stem cells were never tested )

The next few months he was in and out of hospital with infections and complications because of his disease. But he bounced back every time and kept on smiling.

In September 2012 he stopped breathing, but they managed to save his life. In October 2012 he got a Nissen Fundoplication procedure (in aid of his bad reflux) as well as a tracheotomy (permanent ventilation tube in his trachea). He is now permanently connected to a ventilator.

In December 2012 we brought him home, on his ventilator and all the machines that go with it. (Our own ICU).

There was one setback in August 2013 when his suction machine malfunctioned and he aspirated. But he recovered well.

He has a special wheelchair that can fit his ventilator, saturation monitor and suction machine. We take him out as much as we can, and try and be a normal family.

Hanno is still alive, and we take it day by day. He surprises the medical community every day by being here.

We don’t know what is going to happen. Every day is a miracle. He is paralyzed but his brain functions normally and he is very intelligent. He has an amazing fighting spirit and he fights for his life on a daily basis. He is beautiful, precious and we love him very much. He has eyes that can look directly into your soul.

He needs twenty four hour care, and we do everything ourselves. He has a beautiful sister Elle that is ten years old. She is crazy about her brother.

Today Hanno is 7 years old. His social and emotional needs is exceedingly higher than most, and we try to meet them.

SMA is not a PMB !

#SMA is a genetic disease, and like many genetic diseases, it has a tremendous spectrum of involvement. There are almost infinite, different variations of severity, the age of onset, and the ultimate prognosis of SMA children and young adults. But for the sake of convenience, we think in terms of categorization of Type 1, Type 2, Type 3, and Type 4 SMA.You may never have heard of spinal muscular atrophy before, however it’s important to realize that SMA is the number one genetic killer of children under the age of 2. What is SMA? Spinal Muscular Atrophy. SMA is a disease of the motor neuron, the cells which are located in our spinal cord, the deep structures of our brain called the brain stem, and these cells send out processes in the peripheral nerve to eventually make contact with the muscles in our arms, our legs, our chest, and our breathing muscles. If there is something wrong, if the anterior horn cells, the motor neurons become sick or die, then, the nerve no longer carries the trophic message, the life-giving message to the muscles and the muscle cells atrophy and die, thereby the term Spinal Muscular Atrophy.

In type 1 SMA, the most severe form of the disease, symptoms are present before the age of six months and these children never acquire the power, the strength, and the endurance to sit independently, to crawl, or to walk. The greatest threat to their life and limb are respiratory complications, which we’ll discuss in just a bit.

The typical presentation is the classical type 1 baby – the babies who were described over 100 years ago by Doctors Werdnig and Hoffman. These children may appear quite normal at birth, but before the age of 6 months it becomes apparent that there are problems with their motor control. Oftentimes head control is poor, there are difficulties with feedings, there are problems with breathing, a very unusual breathing pattern is apparent with the stomach pumping up and down with each breath, so-called “paradoxic respiration,” and this is due to weakness of the chest wall. Chest wall muscle weakness, difficulty breathing and difficulties with clearing secretions, constitute the greatest threat to the survival of these youngsters. This threat is compounded by the fact that there’s oftentimes bulbar weakness – weakness of the muscles of the lips, the tongue and the pharynx – which makes it very difficult for these children to handle secretions such as saliva. It oftentimes, makes them vulnerable to breathing food, formula, and breast milk. Instead of food going into the food pipe (the esophagus) there may be aspiration into the windpipe (the trachea) and clinical pneumonias may then result. These can prove extremely serious. They may prove lethal to these youngsters.

The care, the support of the child with SMA Type 1 is a heroic effort and we appreciate that this oftentimes dominates the lives of parents and caregivers. What do we need to do? How can we prepare a parent a caregiver for the Herculean task of caring for a child with SMA? Well firstly, you are not alone. There is a network of services available. There are other parents and caregivers who have faced the same obstacles and same challenge that you are facing right now. It becomes critical to find a healthcare resource which includes a multi-disciplinary team of clinicians and therapists. A child with SMA 1 needs the whole team, the whole village, to care adequately for his or her needs. The typical captain of that team is either a neurologist or a physical medicine and rehabilitation specialist, and it’s important that you, yourself, choose a team captain with whom you can establish an easy, on-going, and respectful relationship.

It takes a team, usually captained by the family, and implemented in a neuromuscular center to meet the needs to provide for the ultimate healthcare support for a Type 1 infant. The team will typically consist of a neurologist or physical medicine and rehabilitation specialist, a pulmonary medicine specialist and a respiratory therapist, a gastroenterologist or a nutrition specialist, physical and occupational therapists, a genetic counselor, and very importantly, a case worker or social worker must be present who can help parents navigate the almost interminable and complex rules and regulations of healthcare insurance to make sure that their child is provided with the very best care, therapy, orthotic devices, and durable medical equipment.

The constant and ever looming threat to children with SMA type 1 are breathing problems, respiratory insufficiency, the inability to take a deep enough breath, the difficulty with clearing secretions, because of the weakness of the chest wall making it very difficult for a child to cough up saliva, mucus during the onset of an otherwise quote on quote “benign” respiratory infection. These breathing problems make these children vulnerable to more serious episodes of pneumonia, and lung collapse. Most often, respiratory issues take the lives of these children. It’s very important for parents and healthcare givers to establish a relationship with the neuromuscular team so that they will have the optimal information needed to care for that child within the dictates of the conscience of the parents and family.

It takes a village, and it takes a village of mutual respect such that a game plan can be put in place for the routine care of this youngster. In the event of a quote on quote “sick day,” an acute intercurrent illness, what will the plan be? Will there be the continuation of basic healthcare support? Will there be the introduction of non-invasive ventilation – a mask placed over the child’s nose and mouth or nasal prongs put into the nostrils attached to a non-invasive breathing machine? In the event that the child not only has lung weakness but weakness of the lips and tongue the only way to support the breathing pattern in that child, may prove to be invasive ventilation – the performance of a tracheotomy, with a hole in the windpipe, and then ongoing oftentimes 24-7 mechanical ventilation. These are incredibly difficult decisions to make and must be made in the context of an informed family that in their heart of hearts knows what’s best for their child.

I don’t pretend to have all the answers. When I discuss this issue with family members, parents, and grandparents of SMA Type 1 children, I learn as much as I can and impart scientific and clinical knowledge. It becomes imperative that family members have as much information as possible at their disposal to make the best decisions for their child. #CureSMA

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