October 25, 2020
When her son was born with an extremely rare genetic condition, Annette Kellow 37, was devastated. But a strange coincidence is helping her through.
I was chatting to my best friend, Irene, at our favorite nail salon when the technician accidentally nicked her skin, and her finger started to bleed. ‘I’ve paid to bleed,’ joked Irene, handing over her card to pay for the half-done manicure while I applied pressure to the wound. It was 10 years ago, and what would have been a tiny accident for most people became a dash to ER for us because Irene suffers from Glanzmann’s thrombasthenia (GT) — an incredibly rare bleeding disorder, which only affects around 500 people in the world.
Sufferers of GT have defective platelets – the ‘mortar’ that binds blood cells together — and major bleeds can happen at any time. Being hot, crying, or just eating crunchy food can wreak havoc, while a mild knock can be extremely dangerous. Even sitting in the same spot for too long can bring on a tissue bleed.
Anyone with Glanzmann’s has to embrace a different way of living, which means being hyper-aware of everything you do. Yet Irene manages to be unfazed by the fact that she may have to go to the hospital at any moment.
We met in the summer of 2009 at a vintage festival and became instant friends, bonding over our love of 1950s clothes and bad music. Irene first told me about her condition as a casual way of explaining why she had so many bruises. Little did I know that years later, after a very normal pregnancy, I would be calling her in a panic to tell her my newborn son, Felix, had just been diagnosed with the same life-threatening disorder.
Felix was born by cesarean section in London in June 2018 and seemed the perfect bundle. Yet from the neck down, he was covered in bruises. The doctors were very concerned. He spent three worrying days in ICU while they carried out tests, but no explanation for the bruising was found. We were then referred to the hematology experts at Great Ormond Street Hospital (GOSH), where, within a few hours, they diagnosed Glanzmann’s.
When the specialist gently explained his condition, I listened, shell-shocked. To learn, he would need to be under the direct care of Great Ormond Street, seemingly forever, was just devastating.
They explained that it is so rare for two individuals with the requisite ‘wonky’ genes to be carriers that it is virtually impossible to have a baby with this condition. So when I blurted out that my friend had Glanzmann’s too, it was their turn to be shocked.
The first few months with Felix were a blur of panicked rushes to the ER. Having Irene by my side was such a help. Fortunately, Irene came to stay with me for the first few weeks as I had recently become a single parent. Having her by my side was such a help. All mothers of newborns worry, but it was hideous to see my precious newborn suddenly start to bleed.
During his first year, Felix suffered profuse nosebleeds, which he found very distressing. We learned that whenever a bleed happened, we had to head straight to the hospital so that he could have a life-saving platelet transfusion. During those early episodes, I was panic-stricken. I have never been good with the sight of blood or the proximity of needles, but I quickly had to confront those fears for both our sakes.
Felix is now two, and he’s become more used to what happens in the hospital. He’s grown fond of the lovely at Great Ormond Street, and they introduce him to new toys and let him visit his favorite doctors and nurses. At home, he likes to make visitors hold their arm up to have their ‘medicine’ with his toy medical kit.
The specialists are on call 24 hours a day, but whenever something happens, the second person I immediately call is Irene. She knows just what to say to keep me calm. Felix now has weekly transfusions to fry to avoid bleeds, although they do still happen. He will never play like a regular child; he won’t ever join in with rough and tumble. Scale a climbing frame or speed around on his bike. But I have found a lovely nursery willing to give hin- the care he needs to play with other children.
With Irene’s support, I’ve found strength I never knew I had. The three of us are like a special little Glanzmann’s clan; our WhatsApp history is peppered with close-up pictures of torrential bleeds and 1950s dress. Meanwhile, Felix and I are trying to find our rhythm to life — roundabout of hospital visits, everyday caution, and hiding the thought of ‘what happens next.’ While it’s very different from what I imagined, it’s still full of love and joy in watching my son grow.