Lynsey and Joseph
People can understandably find it really difficult when they are given a haemophilia diagnosis, and worry that it’s the end of a normal life for their child. Having grown-up with a brother who has severe haemophilia B, I’ve seen how he’s managed his condition and know that it’s not the end at all. As long as you are aware, engaged, take precautions and learn any limitations, I know that having a haemophilia diagnosis won’t stop my son, or our family, from living the life that we want.
Lynsey, 38, lives in the north Wales borders with her family. An operations manager for a certification company, Lynsey is currently enjoying being at home with her 8-month-old baby, Joseph.
Lynsey explains;
“I knew that I was a haemophila carrier, and had genetic counselling, before I became pregnant with Joseph. We decided to find out before his birth if he would have the condition, so that we could make the right birth decisions and adjust to the future. Joseph has been diagnosed with severe haemophilia B, with less than 1% factor.
“My parents were worried, as my brother, Joe, also has severe haemohilia B, and so they know the extra strain that being the parent of a child with a chronic condition can bring. But I’m very close to my brother and have been with him every step of the way, and I know that Jospeh can also have a good life.
“We didn’t have a known family history of haemophilia before my brother, who’s 36, was born. I think Joseph’s experience will be quite a bit different from Joe’s. When Joe was growing up, he wasn’t offered prophylaxis treatment until he was 9 or 10, which has meant that his ankle and elbow joints have suffered, and that limits his mobility. We went to the same school and I was always very involved in his treatment; I used to get asked to come out of class to take a look at him and check for signs of bleeds!
“My brother Joe is really clumsy, and he did have to avoid contact sports when he was young, so haemophilia has undoubtedly impacted on his life. But he’s done really well and now has a successful career and a wonderful family, so it’s definitely not all doom and gloom, which you might initially worry.
“Since Joseph was born, we’ve had fantastic, very personalised care, and got to know our named nurse and consultant. We were told that we would watch and wait; Joseph was yet to have any factor as we were waiting for his first bleed to develop, and assumed this would be a crawling injury of some kind; perhaps a knee or arm! It was thought that a hidden bleed probably wouldn’t happen. I have to admit, though, it was in the back of my mind, as my brother had a hemorrhage when he was 5 years old.
“At 7 months old and after a difficult weekend, we assumed Joseph was teething; he was grizzly, having poor sleep, feeding poorly and just really out of character. Unfortunately, he had a very small seizure, which we would have barely recognised if we had not had been taking him out of the car seat. Just a twitching of the lip, tongue and arm. But it shows that if you think something isn’t right, it probably isn’t, so it’s always best to follow your instinct and get your child checked – you are never wasting anyone’s time. And of course, what happened was incredibly rare.
“Luckily, when the seizure occurred, we were 5 minutes away from Birmingham Children’s Hospital where Joseph was seen in 5 minutes, intubated, sedated, pumped with factor and scanned immediately. He had a small bleed on his head, hence the seizure. He spent 3 days in ICU and was then transferred to our usual hospital, Alder Hey, where he made great progress.
“Although I have grown-up knowing haemophilia, this seizure came out of the blue and was a real baptism of fire, even for us! It was also quite an emotional experience, seeing the condition as a parent. But now we are home and moving forwards with a long-term plan. Joseph now has a Hickman line fitted for easy factor administering and we are establishing a routine with treatment and checks. I want Joseph to have a positive relationship with his treatment, unlike my brother who didn’t do himself any favours when he rebelled as a teenager!
“One key learning that I took from this experience is how important it is to be well-prepared and have all your child’s medical information to hand to ensure that decisions in hospital can be taken quickly and correctly. Haemophilia is so rare, that when we arrived, the hospital didn’t have the protocols in place to mix-up Joseph’s treatment – something that the brilliant team there have now rectified.
“As a family, we love travelling in our camper van and also further afield. I want Joseph to be as well-travelled and have the same breadth of experiences as anyone else. Although we are familiar with the condition, we were never for one moment complacent about haemophilia. This episode has just reinforced that wherever we visit, we just need to be mindful of the nearby haemophilia centres and take any necessary steps to make sure we can be as ready as possible if we need to change plans. Joseph and the rest of our family can still explore, grow, and do all the things that we want to do, it’s just a matter of finding the right balance”.