Antoni’s story

Antoni still inside Mom

Antoni was born on the 10th of July 2010.

It was the 38th week of pregnancy when the doctors decided to induce labour. After four long days in hospital Antoni came into the world at 11:13 on Saturday night. He was delivered via emergency ventouse. His birth weight was 3.52 kg and his Apgar scores were 8 in the first minute, and 9 in the fifth minute.

Shortly after the delivery Antoni was taken to the Intensive Care Unit because he did not want to feed. He was returned after a couple of hours. We were assured that everything was fine, his blood sugar levels were low but we were told that this was normal in newborns.

My first yawn …
Antoni and his Mom

We spent the next four days in the hospital. Antoni’s sugar levels continued to be low and he did not want to feed. Numerous midwives, nurses and consultants came with advice but none would help. No one ever indicated that there might be some underlying problem. After four days in the hospital we went home.

The next few weeks were very difficult. Antoni continued to be unsettled, crying and refusing to feed. We sought help from doctors and midwives but we were always given the impression that we worried too much and that this was because Antoni was our first baby.

One senior pediatric consultant described us in her memo as excessively worried parents and stated that we needed help not Antoni, as there was no underlying problem with our son. After that nobody seemed to be listening to our concerns about Antoni anymore.

When Antoni was seven weeks old we decided to fly to Poland to visit family and get a second medical opinion from Polish doctors. The doctors in the UK gave us medical clearance to fly the day before our trip.

We flew to Poland on the 29th of August 2010. Assured by the doctors that Antoni’s only problem was reflux, we were not expecting complications. When we landed, Antoni was in a critical condition and had to be taken directly to the Emergency Unit in Wrocław Pediatric Hospital.

Antoni’s arrival to Poland

Antoni was deteriorating for the first four days in the hospital and the doctors were fighting for his life. He finally started getting better after being given a blood transfusion and an immuno-transfusion. He spent nearly two months in the hospital as the doctors completed numerous tests trying to establish what was wrong with him. To name just a few, Antoni underwent two lumbar punctures, a brain MRI, an EEG, four X-rays, several scans, catheterization, dozens of blood samples & had to be given oxygen and eight different antibiotics.

Antoni’s initial problem was pneumonia, which had been undiagnosed by the doctors in UK. However, the Polish doctors were struggling to find the underlying clinical causes. They suspected immunodeficiency, then the neurology tests showed a hypoplasia of corpus calossum and underdeveloped white matter and cerebellum. Early on, the Polish doctors also noticed some distinctive dysmorphic features. Finally, the suspected diagnosis of genetic disorder – Kabuki syndrome, was made by the geneticist.

Travel back to UK

When Antoni was well enough to travel, we returned to the UK under medical escort (on 14th November 2010).

Well in advance of our return we have tried to ensure that the NHS took over Antoni’s medical care as soon as we arrived back. Unfortunately we were told nothing could be done in that regard until he was back in the UK. Thus we had to start from scratch when we returned.

We met with a private pediatrician at Great Ormond Street Hospital, who initiated the diagnostic process and sent for the genetic testing. After countless visits to private specialists in January 2011, Antoni’s medical care was finally transferred back to the NHS – something that should have happened immediately upon our return.

In February 2011 we received the results of Antoni’s genetic tests confirming the diagnosis of Kabuki syndrome.

In 2013, a year after we lodged a complaint to NHS about shortcomings in early diagnosis and treatment of our son, we received a token apology from the Chief Neurologist.

Please go to HOME tab to see what is currently happening in Antoni’s life.