At our 20 week scan Romeo was diagnosed with a form of congenital heart disease called Tetralogy of Fallot. This is made up of 4 heart defects; a large VSD, overriding aorta, pulmonary stenosis and right ventricular hypertrophy. This particular CHD can sometimes be linked to genetic conditions so we had an amniocentesis to see if there was a genetic link, 2 weeks later just before Christmas our results came back negative and we felt a sense of relief.
Romeo was born on the 5th of April 2019 at a tiny 4lb5oz but he didn’t need any immediate medical support and his heart was okay for the time being. He would be closely monitored by the cardiologists over the coming months and they would aim to do his full repair at around 6 months old. At 3 and a half months old Romeo had stopped taking bottles as he just didn’t have the energy to feed. I took him to our local hospital and an NG tube was placed as he had lost weight and was already diagnosed failure to thrive. A couple of days later an echocardiogram and chest X-ray showed that his heart was very enlarged and he was in heart failure. The next day we were taken by ambulance to Southampton Childrens Hospital and started on diuretics to help his heart. We spent over a month in hospital and at 4 months old he had his open heart surgery for his full repair. It was also discovered whilst we were here that he had another congenital defect elsewhere on his body which he has had another surgery to repair so they requested for genetics to do further testing to see if this and his heart condition were linked; this again came back negative.
We had cardiologist reviews every 3 months after this but his heart wasn’t getting any smaller so he carried on his diuretics. In February last year we were back in hospital as he was showing signs of struggling again and his medication was increased. We were admitted to Southampton for an unrelated gastro review but whilst there they did lots of investigations, they had decided to do a cardiac catheter to check the pressures in his heart due to its size and shape.
During his cardiac catheter his heart stopped twice but they managed to get the rhythm back after some chest massage. When we went to collect Romeo in recovery he didn’t look right and was very unsettled, shortly after he was placed into my arms he went into complete heart block and his heart stopped beating again, he went cold, purple, floppy and unresponsive. I immediately placed him on the crash trolley and got pulled away whilst they resuscitated him. Luckily they managed to get him back pretty quickly however they decided it was safest to take him back into the cath lab to place temporary pacing wires, they kept him intubated and took him down to PICU to wake him up there. They discussed him in their team meeting and it was decided he needed a permanent pacemaker to prevent this from happening again.
After discussions in the meeting we were given his shock new diagnosis, Restrictive Cardiomyopathy. This is the rarest form of cardiomyopathy affecting less than 1 in a million children, in this form of cardiomyopathy the heart does not relax properly due to the heart muscle being very stiff causing the atriums to enlarge. There is no cure for this all they can do is manage his heart failure with medication and eventually a heart transplant. With this new finding and due to Romeo’s weight being so low and the other diagnoses he has they did further genetic testing, once again this has come back negative but they are sure there is an underlying genetic condition.
Just before Christmas last year Romeo suffered from a mini stroke, since then he was also admitted to hospital with worsening heart failure due to his restrictive cardiomyopathy. We came into hospital again mid January for more surgery to reverse his colostomy and for a skin biopsy for further genetic testing which has since come back clear. Unfortunately he suffered from sepsis after this surgery and nearly lost his life. He has since remained in PICU where he has had a rough recovery suffering from another cardiac arrest and another stroke which has left him with weakness in his right hand. He remains in PICU dependent on a drug called milrinone which helps with his heart failure, he is also now on Bi-Pap due to being ventilated for so long. We are currently waiting on results from a muscle biopsy to see if he has mitochondrial disease, providing this comes back clear he should hopefully be placed on the urgent list for a heart transplant. Unfortunately he will have to remain in hospital until he receives a beautiful new heart, they predict this can take anywhere between 6-12 months.
Spreading awareness for organ donation is vital to help babies like Romeo, no one wants to think of the worst happening to a loved one but it is so important to have those conversations and to share your wishes as you could save up to 9 lives.
Romeo is one of a kind, I hope by sharing his story I can spread awareness around the importance of organ donation. Time is against us now as his restrictive cardiomyopathy has progressed so much but we have hope that one day somebody will make the selfless decision to share the gift of life with him and that we will find the perfect match so that he can have a future.