Written by SANJA PETROVIĆ LAĐEVIĆ
My name is Sanja. I live in Belgrade and I am 33 years old. I am the mother of a boy called Petar, who has Lesch-Nyhan syndrome, and he will be four this year.
Petar was born with rare Lesch-Nyhan syndrome and I did not know this. He had positive estimations at birth, and looked like all other healthy babies. He was gorgeous. With the most beautiful blue eyes I have ever seen.
When he was three months old, we noticed that Petar is not growing as he should. He was born with torticollis on the left side and crooked foot, so from the age of 2 months we were monitored by a physiatrist.
With less than four months he had his first urinary infection accompanied by high temperature and orange sand-like crystals in his nappies. And that was the first sign of Lesch-Nyhan syndrome.
As of his eight month of life he started to make writhing (athetotic) moves by hands and feet. We managed to visit geneticists in the Institute for Health Care of Mothers and Children when he was nine months old. They first did metabolic urine screening, and it showed no signs of any disease. Two months later we stayed in the hospital, Neurology Section, for a full screening day, and just after the detailed diagnostic checks, blood and urine tests doctors identified higher values of uric acid in his urine. This was an alarm for a rare syndrome.
HOW DID THEY COMMUNICATE THE DIAGNOSIS TO ME?
I was invited to an office where there were one metabolism specialist, one nephrologist and a neurologist. I sat down with Petar in my arms. He was 11 months old. It was an awkward silence. I only remember when the doctor told me to sit down. I felt discomfort and anxiety. I knew something was wrong.
The doctor told they suspected that Petar has rare Lesch-Nyhan syndrome. The first question I asked was whether there is a cure for that. No cure! Until that moment I was managing somehow, but after they told me there is no cure for it, I didn’t hear a thing more. I was holding back my tears. I can now recall that they were so cold and reckless. I didn’t care much about this then. I stood up with the child in my arms and ran out of the office. I could not breathe. My husband showed up. I did not say a word. I handed Petar over to him and ran down the hospital stairs.
I just needed air. I just wanted that all this was not true. I just wanted to breathe.
They immediately took Petar’s blood samples for DNA testing. Biological material (in our case, DNA samples) were sent to a laboratory in Germany (Rostock).
We did not received results till Petar was 15 months old. A mutation of HPRT1 gene was confirmed and since then Petar is officially diagnosed with Lesch-Nyhan syndrome. I was explained that it is a genetic disease. They asked me if I wanted to have more children, because this is a precondition to do tests with a mother. These tests are being done in order to identify if the mother has this gene. Syndrome affects boys, but mothers and female children are the carriers.
At that moment I was not thinking whether I want to have more children. I just wanted to have this one healthy. At that moment, I did not know a thing about the disease, but I knew I want to have another child.
If I would need to describe Petar in one sentence, I would say: HIS BODY DOES NOT LISTEN TO HIS MIND. In most cases he will do opposite to what he actually wants. If the person he is talking to does not show understanding for him, his reaction will be frustration, intensified anxiety and self-harm. Individuals with Lesch Nyhan syndrome are anyway prone to emotional and psychosocial self-harm. They are prone to harming other persons or destroying items. It is not an intentional reaction, and when they do a “damage” they sincerely regret and feel quilty. That is why it is important not to be angry with them. It is important not to yell at them and to partly ignore their bad behavior. Unless it is the physical self-harm. In these cases we need to react imminently as it can escalate.
Hypotonia, psychomotor agitation, frequent urinary infections and orange sand-like crystals in nappies are among FIRST SYMPTOMS of Lesch-Nyhan syndrome. First signs of self-harm can be seen later in the form of nails or lower lip biting. Speech is rare or it is not clear. Hyper perspiration can be present, with children often waking up in the night crying and screaming, reflux, digestion problems, vomiting. With the first suspicion on this syndrome, doctors should do the full anamnesis, ultrasound of urogenital tract and check parameters in blood and urine.
Unfortunately, most of the doctors I spoke with in Belgrade is not aware of LNS. Consequently, they did not know how to help us and where to refer us further. It is usually mainly parents who intiate further checks and more frequent controls. Via Internet we communicate to parents and referent centers all over the world. They are easy to approach and want to share their knowledge with us, which is invaluable support and assistance for us. I keep contact with an association from Italy.
We all manage this the best we know and can.
There is a total absence of multidisciplinary work with children/individuals affected by Lesch-Nyhan syndrome in our health care system. It would involve neurologist, physiatrist, orthopedist, metabolic specilaist, nutritionist, gastroenterologist, pulmonologist, cardiologist, urologist, physical therapist, working therapist, special educators and logopaedic specialists. All these specialist should function as a team, to rely on each other and to be in agreement about required actions aiming at healtier condition of children with Lesch-Nyhan syndrome.
That is the only way to provide complete and satisfactory care to our children, and to have mothers fully prepared for 24/7 medical care. There is still no cure for this disease.
In addition to my son, in Serbia there are three more boys with this rare condition.