“We travelled from the Dominican Republic to Barcelona because SJD is a hospital with a great deal of experience in treating children with complex conditions”

Adriana was born with mosaic trisomy 13 (Patau’s syndrome), an ultra-rare genetic condition caused by a genetic abnormality involving an extra copy of chromosome 13. Despite the challenges associated with this condition, Adriana has achieved a significant level of development and independence thanks to the support of her family and the medical teams who have looked after her throughout her life.

Children with trisomy 13 often have multiple congenital malformations, including heart defects. Before she turned three, Adriana underwent her first heart operation to repair a blockage in her aortic valve; this was carried out at an early age to avoid damaging the valve. Although the operation was a success, there was a risk that the blockage might recur. This did indeed happen a few years later, and the doctors treating her in her home country suggested to the family that she undergo another operation.

Given the complexity of the case, her parents sought out a centre with extensive experience in complex congenital heart conditions and in the comprehensive care of patients with special needs. As part of this process, they sought a second opinion from SJD Barcelona Children’s Hospital.

Following a video conference with Dr Georgia Sarquella and Dr Stefano Congiu, during which they explained both the expected benefits and the risks of the procedure, the family decided to travel to Barcelona for their daughter’s cardiac surgery.

Receiving treatment at SJD Barcelona

Despite the 14-hour flight and Adriana’s condition, her mother says they came to SJD Barcelona “because it is a hospital that is used to working with children with congenital conditions”. “Our daughter has a cognitive disability and the facilities at this centre have made the whole process much more pleasant. When Adriana is taken out of her routine and her familiar surroundings, she becomes unsettled. The support from the hospital staff has helped her a great deal in managing her anxiety,” her mother emphasises.

“Furthermore,” she adds, “having an intensive care room where parents can stay 24 hours a day, the support of the medical staff, the hospital environment, speaking the same language and the facilities available in the city of Barcelona have helped us a great deal.”

Dr Stefano Congiu explains: “Before the operation, we warned the family that this complex procedure carried risks such as a possible heart block or the need for a pacemaker. But the procedure went very well; we were able to remove the entire blockage in Adriana’s left ventricle and made some improvements to the valve. This minimised the need for a third operation in the future. Adriana’s quality of life has improved and she will soon be able to resume physical activity.”

The family also highlights the role of the ‘patient manager’, the member of the international team who supports families coming from other countries. “The ‘patient manager’ helped us a great deal from the moment we arrived at the hospital – with appointments with the doctors, prescriptions, reports… It was a huge help to have that constant communication with her and to know she could guide us on anything we needed.”

Adriana has now returned to the Dominican Republic and is continuing to recover. For her family, the experience at SJD Barcelona Children’s Hospital meant not only a successful heart operation, but also the peace of mind that came from having found a team capable of understanding both the medical complexities and the personal needs of Adriana and the whole family.