“Our story begins when Louie was around 5 months old. He was the happiest baby, smiles for everyone, and our super-chilled second baby. He was at the age where he was beginning to sit up and use things such as high chairs and bath seats — and was super excited to do so. Soon, I noticed two small bruises, one on his elbow and one on his knee. They were very dark purple in color and had lumps underneath. Looking back now, I was a little concerned by them but he was my second baby and I didn’t think a couple of bruises warranted a trip to the doctors. He was always getting excited in his seats and banging his arms and legs around. I assumed he had just banged a little too hard. I had always bruised easily so thought he just carried the same trait as me. As the bruises faded and disappeared, we pretty much forgot about them. That is, until more started to appear, mostly around his ribs.
One week, we went to the park and Louie went into a baby swing. By the time we got home, he had significant bruising over his ribs. The same week, similar things happened with shopping trolleys and then a bath seat. The bath seat was different. The deep purple bruise, roughly 2 inches wide, had appeared by the time he got out of the bath less than 10 minutes later. That was the final straw. The next day, I spoke to our health visitor. She advised, ‘Go home, call the doctors, and whatever you do, do not Google it.’ I rang the doctor, spoke to the receptionist, and booked an appointment for a few days’ time. Less than 10 minutes later, a doctor had called me back saying she wanted to see us immediately.
At the appointment, I was nervous, if I’m totally honest. I felt like I was fully justifying myself about why my sweet, happy baby had what she described as ‘significant bruising’ but I had no explanation or idea why this was happening. At no point did I feel accused of anything. She told me she was stumped, and she wanted to refer us to the hospital to see a pediatrician. He seemed well, so she did so non-urgently. We got an appointment for 2 weeks later at the hospital. I went there casually. I felt sure there were no serious issues if we had been left for a few weeks — maybe it was a vitamin deficiency or something? This time, I went armed with numerous photos and a diary of events all written out for the doctor. He asked me so many questions my brain was boggled. At one point, when he left the room to get a second opinion, I glimpsed at our notes and saw ‘NO SAFEGUARDING CONCERNS’ written in capital letters. This made me feel better. They didn’t think I was hurting him. Looking back, I know I took the photos and diary to show them I was a good mum and that I wasn’t hiding anything. I was just worried about my sweet, innocent baby.
When they came back into the room, we were admitted there and then for tests. I began to panic a little. This wasn’t Louie’s first hospital visit. At a week old, he was treated for sepsis and spent 4 days in NICU. Being in the hospital with him brought it all back. After numerous attempts at taking blood and about 8 hours of waiting, they sent us home. They told me they were testing his clotting but the machine wasn’t registering. Either his levels were too high, too low or the computer was glitching. We were to come back tomorrow for yet more blood tests. I went home, knowing it was serious, knowing it wasn’t a computer error, but so tired and just wanting to put my baby to bed in the safety of his own cot. No one even explained what testing his clotting meant. At this point, I had no idea what we were facing.
The next day, we went in and they had called someone who was very experienced in taking blood from babies. On the second attempt, they got enough blood and sent us home, saying they would call with the results. After a long day of waiting, I got the call to say Louie had Hemophilia. I had never heard of it. I asked the consultant what it meant and her response still hangs over me. ‘Most children with this condition lead quite normal lives.’
What the hell was going on? How is this even happening? What does she even mean? That night, I don’t think I slept a wink. I googled everything and found out as much as I possibly could. This was serious. The next day, a specialist nurse from Southampton General Hospital rang. She told me Louie had severe Hemophilia A. He would need surgery and lifelong treatment. She needed to see us the next day with a consultant. I felt like my world was caving in. I remember sitting on my kitchen floor just crying and crying.
The next day we got on the ferry over to our Haemophilia Centre with Louie. We were there most of the day. We learned Louie had zero levels of clotting protein Factor 8 in his blood — a normal person has between 50 and 150– and this is a lifelong condition. There is no cure and he will need treatment very regularly, three to four times a week through a port-a-cath, which would be inserted via surgery. We were told his lack of Factor 8 meant he was susceptible to prolonged bleeding, which is why he was so bruised, and the lumps under his bruises were hematomas. Because of his severity level, he could bleed at any time, spontaneously. No cause, no warning, he could just start bleeding internally and we would have to know what to look out for and get him to a hospital immediately.
We asked a lot of questions that day and the consultant asked us a lot as well. We had to draw out my family tree and try and work out if this was hereditary. 75% of cases are inherited and run in families. I had never heard of anyone in my family having this, although it can sometimes be passed from woman to woman and go undetected, as they simply carry the gene. Although some cases are spontaneous, they needed to know if there was a possibility of others in my family being affected. They took more blood from both myself and Louie — for genetics and to confirm the diagnosis. They said they wanted to see us again the following week. With a bit more clarity, we felt we at least had some understanding.
We were still very overwhelmed with the seriousness of things and the fact this was for life. ‘No cure,’ the doctor said to me when I asked how we could make him better. We were also given a lot of reading, explaining the signs of an internal bleed. All head injuries must be seen at the hospital immediately. It was a lot of information. I sat and watched Louie sleep that night, wishing this would all go away. The next week, things got a little complicated with Louie’s blood tests coming back with a Factor 8 level of 3 and confirmation his tests from the original day were in fact a 6. They told us he most likely had moderate Hemophilia and would no longer need surgery for a port or prophylaxis. We were over the moon. They asked for one more set of bloods that day just to confirm this. A few days later, our worlds came crashing down again when I called for the results of those tests and they were less than 1% — a severe diagnosis again. In some ways, these days were worse after having our hopes lifted to have them dashed again was awful.
The hospital, the consultants — everyone was stumped. They’d never seen this before and said the only way to know for sure was to await genetics. These normally take 3 months but our consultant fast-tracked this extensive genetic testing and we heard in about 5 weeks. They confirmed two things: Louie had a severe Hemophilia A mutation and I was a carrier of the mutation. I felt guilty for a while and shocked but mostly, just sad something from me had caused my baby to have such a horrible condition. His life wouldn’t be normal and that is basically my fault. I don’t feel so much like that these days. What’s the point? He is so loved and so happy that torturing myself in that way isn’t helping anyone. My mum was also tested, but her result was clear, meaning the mutation started in me. I felt relieved at this information — my sister and my cousins’ children aren’t at any risk. From there, we planned to wait for Louie’s first bleed, then he would have the surgery for a port and begin prophylaxis treatment with factor replacement. Prophylaxis means ‘preventative.’ He would be given a replacement of what his body was missing in order to aim to prevent any bleeding. The treatment would mean his levels would rise and fall and he would be more protected at certain times than others.
I went into protective mom mode and baby-proofed the house! Any small bump on a hard surface could cause a bleed. With a baby learning to crawl, pull themselves up, and eventually walk, this was a pretty horrendous prospect. I bought new rugs, cot bumpers, and foam mats galore– all while keeping a very very close eye on him. I was anxious, scared, and overwhelmed for those months. His bruises got worse and worse and he had one muscle bleed in his cheek. We administered a lot of tranexamic acid but somehow got away without any serious bleeds during this time.
In August 2019, the exciting news that a brand new drug called Hemlibra had been licensed. This drug was revolutionary. It meant no need for surgery, as it is administered under the skin once every 2 weeks. It had previously only been available for patients who had developed antibodies against the traditional factor replacement. As I understood it, it wasn’t available for PUPs (previously untreated patients) just yet but it gave me hope for the future. In October, we had another appointment where we were told it was now an option for Louie. He would be the first baby our Center had ever had on it. Maybe even the first non-inhibitor patient actually. Also, the fact it was so new, and not much was known about it could be a risk. We discussed it and decided we wanted to give it a go. Not only did it mean no surgery but it also meant less frequent treatment, less equipment, and just subcutaneous injections.
For us, the positives outweighed the risks and in January 2020, Louie started his loading doses — this meant a day a week in the hospital where he is given larger amounts of medication to ensure it was fully in his system. We were very nervous, especially the first day but it all went very smoothly and after 5 weeks, we went it alone at home. From the very first dose, we saw his bruising reduce down to practically nothing… to see his little body bruise-free was actually really emotional for me as his mum. I hadn’t anticipated quite how much seeing him covered in bruises for so long had affected me, but it had.
Louie is now on an injection every other week we administer from home and so far it has been brilliant. He’s a normal, happy toddler, running around, bumping himself, and chasing his brother like every other 18-month-old. The anxiety is still there and it always will be but it is fading and far less than before. Each bump he is okay after helps my confidence in Hemlibra to grow. We still need to keep a close eye on him, as his medication doesn’t treat bleeding, it only helps to prevent it. If he starts to bleed internally or externally, he will need medical intervention. Any serious trauma or head injury would still need immediate medical care.
What our future holds, we don’t know but it feels so much brighter now than it did before. Any hurdles that come our way, we will face head-on and help our little man lead the most normal life possible. Hemophilia is something Louie has, not something he is. I intend to make sure he knows just how strong and special he is.”
This story was submitted to Love What Matters by Rosie Woods. You can follow their journey on Instagram. Do you have a similar experience? We’d like to hear your important journey. Submit your own story here. Be sure to subscribe to our free email newsletter for our best stories, and YouTube for our best videos.
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