BY ANA KNEŽEVIĆ
I’m Ana and this is my experience of being a mother of a boy born in 2004 in Belgrade. He suffers from a rare Di George syndrome. Andrija was born following a strictly controlled pregnancy 20 days prematurely. All analysis during the pregnancy indicated that the baby was a boy and that everything was fine. On Friday, prior to the birth and during an ultrasound check, the doctor only said, ‘It doesn’t matter whether it’s a boy or a girl. All that matters is that it’s alive and healthy’…
Well, my dear, your degree and those old wives’ tales aren’t very helpful. The amnion broke over the cervical cerclage on Sunday, and Andrija was born in a hospital apartment on Monday, in the presence of his father. When he came into this world he didn’t cry loudly enough, i.e. he cried but it was a weak cry and they immediately noticed that he was ‘a bit odd’. However, the 8/10 mark didn’t give us any reason for concern.
On Monday, we took him to the University Children’s Hospital in Tiršova street and he was placed in an incubator! That’s when the agony began.
He had a complex heart defect. Complex, in the sense that his heart atriums were enlarged, as well as his heart ventricles, all of his aortas were dilated while the main aorta had two valves instead of three. Pulmonary artery was completely dilated, they suspected aortic coarctation, they suspected mitral valve stenosis, ASD and VSD, and they suspected Fallot’s tetralogy. Complex, in the sense that it was really bad, and it wasn’t clear how bad. He also had a pulmonary hypertension. ASD is an opening between atrium (heart), while VSD is an opening between ventricles.
He had a large hole between ventricles; hence his life was at risk, although that particular heart anomaly was not considered serious. However, combination of all of heart defects was discouraging. He had tachycardia even up to 190 beats per minute, 100 percent pulmonary hypertension, 4-5 months and 3.5 kilos. He was christened before being admitted to the hospital.
The moment he went for an operation was our last chance. Cardio surgeons were wonderful. From Narodni front Hospital we went straight to the Neonatology Ward in Tiršova and that was the worst period for us.
It was all happening in May 2004. Mothers, who had just delivered babies, without any water on the hospital ward, were desperate. Instead of being at home with their baby, they were sitting there and worrying themselves sick. Such big worries! When a mother finds out that her child is sick, she needs superhuman strength to let everything settle in, to understand and accept the situation.
The first few days in the maternity hospital were very difficult. I was alone in a room with a baby and no adequate support and knowledge as it was my first baby. The doctor would come and look at him with a strange and disapproving expression on her face. I remember the comment, ‘He’s good now compared to what he was like’. Everything was unclear to me, everything hurt, but such a reaction to my firstborn weighing 2.5 kg hurt the most. To me, he was the most beautiful thing in the world.
A midwife on duty asked if the baby was breastfeeding. I confirmed that he was, although he wasn’t. Until a nurse asked aloud, ‘Why is this baby with the mother and not with us, he’s losing weight.’
Then, one day, without an explanation, they took him for a head ultrasound. After five days, the only thing that the doctor said was that the baby had a ‘tiny heart murmur’, and that he should be sent to the cardiologist in Tiršova. Only they would be able to help! The heart was operated on when he was 4.5 months old, and it was an either/or situation!
Heart surgery went surprisingly well due to ‘healthy tissue’. They also operated on ASD and VSD. Only a small muscular VSD was left, while all the other heart anomalies were ‘mitigated’ during the operation. Cardiologist and everyone else didn’t expect him to wake up from anaesthesia, and they were open about it. My husband and I didn’t think about it. ‘No’ was never an option for us.
I spent days on Internet trying to guess what misery we were going through. On his first birthday, Andrija was a size of a soft toy, he had 5 kilos and couldn’t sit by himself. Andrija didn’t have a sucking and swallowing reflex and didn’t move his arms. His look was clear and was expressing interest and joy.
At that time, we didn’t know what his main diagnosis was. All treatments and therapies were focused on his heart. We went to a physical therapist because Andrija had torticollis and it was assumed that it would halt his psycho-motor development. By the time he was two, we were patients in all Belgrade’s hospitals. He was monitored by a geneticist, cardiologist, neurologist and physiatrist.
At one moment, and due to malnutrition, we were planning with Prof Perišić, gastroenterologist, to insert gastrostomy, but the apparatus didn’t work. We were saved by Todoxin. When he was nearly two years old his third tonsil was removed, and when he was four he had a double hernia surgery. He had a heart surgery when he was 4.5, and he started walking when he was 3.5!
The main diagnosis of Microdeletion on 22nd chromosome or 22q11 or Di George syndrome was established when he was 2.5, which made our lives and our struggle considerably easier. Now I know how hard it is for parents to say that their child has a SYNDROM, but trust me, it is much easier to go through this kind of life when you know which chromosome has a defect and what can happen. They only tell you about the child’s syndrome ‘it can, but doesn’t have to be’. Our Di George is very complicated and complex.
By the age of five, we were mainly focused on survival and therapy. When we overcame heart and immunity problems, we worked on him adapting to peer groups and socializing. The description of the syndrome states that a child can have a number of different behavioural problems, schizophrenia and learning difficulties. It also says that it can cause problems with kidneys, hormonal status or low growth.
It also says that he can have hyper-elastic joints, high palate or cleft palate, total absence of speech or nasal speech. Some are prone to autoimmune illnesses. Some children are born without thymus, which causes immunity deficit. Some have a problem with reduced calcium (hypocalcemia), which causes epileptic seizures. Some children get epilepsy during puberty.
So far, Andrija has had around 15 febrile convulsions (FRAS). He usually gets them just before an infection. We went to a speech therapist, physiatrist and other therapists for years. He started nursery school and school from the start. He started walking when he was 3.5. His verticalisation lasted for a very long time, while we didn’t follow any order and worked on aspects that were yielding results.
This means: he first started walking and then learnt how to sit up. No matter how much we practiced this, he was unable to learn it using classical methods. He learnt it thanks to me observing the growth and development of his younger brother, so it took us around six months to learn this movement.
Andrija cannot speak nor is he ever going to be able to. He swallows liquid with difficulty and cannot prepare his meals at the age of 14. He rides a tricycle and is very short. He has an advancing kyphoscoliosis.
Life with Andrija is neither easy nor simple, but the beauty and purity and love he gives us is out of this world. He experiences genuine joy and sadness. He never lacks motivation and he works hard. Whoever meets him remembers him forever. He has touched everyone’s heart, healed it the same way his heart was healed.
Experience with Di George syndrome taught me to go through life slowly and carefully. To have patience for myself and for others and seek ways and solutions. Not to get upset because something isn’t going well at a particular moment. The same way as when we went to an old woman in Bosnia to raise his palate, then to Kokin Brod, then Staro sajmište, and to a Russian lady with bioenergy in Sarajevo.
Just as we went to Ostrog to cry and forgive ourselves and others. But also just as we saw the best children’s consultants and trusted them with their well-meaning advice and recommendations of a particular therapy or approach.
We are also grateful to those who were harsh and without hope, because they made us stronger today. One doctor even told us that Andrija might be able to have healthy offspring and that medicine is advancing all the time. It seemed surreal talking like that when the child is very small, but from this perspective, that also made us stronger.
Our Di George 22q11.2 community in Serbia is gradually getting together. We have a Facebook group where parents regularly write and give advice to each other.
It has already been four years since we have started marking the International 22q11 Day. We are slowly raising the public’s awareness about the existence of this population. Diagnostics is particularly important as is having your own community that understands you. Life of parents with children with any kind of developmental disabilities isn’t at all easy.
However, that does not mean it isn’t beautiful and that we should just sit and cry!
Ana, Andrija’s mother