Against all odds: Our Diamond Blackfan Anaemia story

“Realistically, there’s a 20% chance of survival past the next few weeks, we can book you in for a termination if you like”. Not what anyone hopes to hear at their twelve week pregnancy ultrasound. The truth was, we never expected to be here. I was diagnosed with a benign brain tumour when I was 17, which causes infertility. We had been told it would be very difficult, if not impossible, to conceive.

It was an excruciating five months that followed, with endless appointments and monitoring. The news was never ‘good’ – there was always something wrong – yet still nobody could offer an explanation or diagnosis that would account for what they were seeing.

A difficult birth

Despite the persistent threat that he would need to be delivered extremely early due to the growth restriction, we somehow made it through to 36 weeks. I had noticed he wasn’t moving around as much as he usually did so we went straight to the hospital and 30 minutes later he was being delivered by emergency cesarean. There he was, Henry James Alderson, born at 8.22pm on Friday 20 November 2015 weighing 5lb 1oz. I heard him cry, but he was immediately whisked off to the neonatal intensive care unit before I could catch a glimpse of him. They took a photo for me to take up to the ward but I wasn’t able to see him for the first 13 hours of his life. When I finally got to see him, he was in an incubator, his little body so pale and swollen, sedated and on a ventilator.  They couldn’t say whether he would live or die.

18 days and three blood transfusions later, we were finally ready to go home, with the caveat that we had to bring him back if he ‘seemed poorly’, still none the wiser as to what was going on. We made it to Christmas Eve and he was pale, lethargic, had gone off his food and was suffering terrible reflux. We took him to hospital…he’d run out of blood. His red cell level had dropped dangerously low once again and he required an emergency blood transfusion there and then.

Towards a diagnosis

We were referred to Addenbrooke’s Hospital in Cambridge for further investigation and booked in for a bone marrow biopsy in March 2016. It was a long day, but our consultant was kind enough to come and tell us the results late that evening. I had spent weeks before feverishly searching the internet for potential diagnoses and had a shortlist of two in my head…I wasn’t wrong. Diamond Blackfan Anaemia (DBA), a one in nine million genetic disorder meaning his bone marrow has failed and he cannot produce red blood cells (in his case, some white blood cells too). I was terrified that Henry was condemned to a short life of pain and suffering and wondered if we’d done the right thing turning down the multiple terminations we’d been offered.

I quickly stumbled upon the Diamond Blackfan Anaemia UK website and forum and this was life-changing for us. We were able to go to their annual conference and to meet others (granted, not many, as there are only about 120 people with DBA in the UK!) living with the condition was inspiring.

Into the unknown

It’s all a bit overwhelming, but here we are today. Henry is ten months old and has had 15 blood transfusions so far. He has to take daily medication and will need an operation soon to correct some of the physical issues he has linked to his condition. The list of treatments he will need goes on. The odds aren’t great, but we have everything crossed. We have been told he is at high risk of needing a bone marrow transplant in the future so we are in the process of having our genetic tests done to see if we can get IVF – we’d be able to transplant the stem cells from the umbilical cord during pregnancy into Henry to replace his damaged bone marrow.

We have a long and treacherous road in front of us with no guarantees, but how grateful we are that we have the opportunity to love him and watch him grow into a handsome, happy, endearing little chap, because by all accounts, he really is a miracle and shouldn’t be here. He is our superhero. He is our one in nine million.

To be continued…!

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