Monday 31st August 2020
At 9 months old, Ella was able to stand up and take a couple of steps, but she was yet to take her first step without assistance because she could only walk if she held on to someone or something. It was the week before Daniel started school, but he wasn't very nervous because many of his friends in his play group at the hospital crèche were going to the same school as him.
"Sam, she's coming to get you." Tom grinned as Ella slowly pulled herself along as she held on to the legs of the chairs at the kitchen table whilst Sam prepared dinner and Daniel sat at the table colouring in. However as Sam turned around to watch her daughter's progress, she frowned as she watched Ella fall forwards and she landed on her knees and then her bum. "Oopsy daisy, should daddy kiss it better?" Tom asked as he quickly leapt forwards and scooped her up into his arms but Ella erupted into a crying fit as she clutched her knees. "Ella, it can't have hurt that much." Tom protested.
"I don't know, the kitchen floor is pretty hard." Sam stated as she wiped her hands on the tea towel to dry them before she wiped one of the many tears off of Ella's cheeks. "Just check she's not bleeding and you can change her nappy while you're at it, she smells." Sam ordered before she went back to the kitchen counter.
"You don't smell do- oh Jesus, you do smell don't you?" Tom grimaced as he held Ella at arms length in in front of him as though she was an unexploded bomb and then carried her upstairs to her pink nursery to clean her up.
7pm
Two hours had passed after Ella's tumble and she was still upset and refusing to take another step whenever Tom placed her on her feet. Sam had just given her a dose of strawberry paracetamol liquid but she knew it would take a while to kick in whilst Tom stayed in the bathroom where Daniel was playing in the bath as part of his bedtime routine.
"I don't understand, how can one little fall upset you this much? You've been fed, we've read you a story and had cuddles. What else do you want me to do?" Sam huffed as she cradled her baby against her chest. "Are you too hot? Let's take your sleep suit off and see if that helps." Sam said as she carried Ella into her nursery, laid her on the changing table and unbuttoned it. She then pulled it off and froze as she noticed bruising on Ella's knees. But it wasn't just two little bruises, they were large and it almost looked as though her knees were swollen. "Jesus." Sam gasped. "Right let's get you changed quickly and then we'll take you to the hospital." Sam said as she undid Ella's nappy. But as she opened it, she found a small amount of faeces which wasn't out of the ordinary, but there were streaks of dark red blood too. "Tom!" Sam shouted.
"Yeah?" Tom replied worriedly, but Sam did not reply. "Sam...? Right, I'll be right back. Do not move." Tom ordered his son before he ran out of the ensuite and into Ella's nursery where he found Sam staring as his naked daughter with a bloodied nappy and bruised knees. "What happened?"
"I don't know, I just... I just took her sleepsuit off and her knees were bruised so I was going to change her and take her to the hospital but then I opened her nappy and... What's wrong with her?" Sam asked worriedly.
"I don't know." Tom admitted. "You go and get Daniel dried and changed into his pyjamas, I'll clean Ella up and we'll go to the hospital okay, don't panic because that won't get us anywhere." Tom stated.
"Louise I need Zoe and a bed in cubicles now." Tom ordered as he approached the reception in the ED with Ella, who was still crying, in a bundle of blankets against his chest and Sam followed quickly behind with Daniel who was in his blue dressing gown.
"Why? What's-"
"I don't have time to explain, just get Zoe now." Tom ordered.
"Tom?" Zoe questioned.
"Something's wrong with Ella. I- please you have to take a look at her." Tom begged as he knew that he was in no fit state to evaluate his own daughter and Zoe was the best doctor in the place who would be able to get help and fast is they needed it.
"Alright, bring her through." Zoe said as she opened the door and the family of four went through and into an empty cubicle. "Right, is she breathing okay? What's the problem?" Zoe asked as Tom laid Ella, who was softly crying, down on the bed and Sam lifted Daniel up onto the end of the bed.
"She fell over earlier onto a hard floor and I thought nothing of it but her knees are really badly bruised and them I changed her nappy and she had blood in it." Sam explained quickly and Zoe realised that she was seeing a rare vulnerable side to Sam because Tom was always showing off his parenting skills when he had Daniel at work but Sam hardly ever let her guard down.
"Okay, both of you calm down. Is there a blood clotting disorder in either of your family histories?" Zoe asked as Tom unfolded the blankets revealing Ella in just a white sleepsuit and at that question, Sam and Tom looked at each other in epiphany.
"Why didn't we think of that?" Sam shrieked.
"Hey, calm down we don't know if it is that yet." Zoe stated.
"No no, it must be a blood clotting disorder. She's had nose bleeds, her gums bled a lot during teething, blood in her nappy and the easy bruising. It all adds up." Tom concluded.
"Well the most common condition is haemophilia but it's incredibly rare in girls." Zoe stated as she pulled over an equipment trolley.
"I can do the blood test." Tom stated.
"You know I can't let you do that." Zoe sighed.
"But daddy's a doctor." Daniel stated.
"Yes but Daddy isn't allowed to treat his own family Daniel, it's against the rules." Zoe explained simply. "Look you or Sam can hold her while I do it, but I'm taking the sample." Zoe stated as she got the cannula and vial ready.
"Sam do you- Sam? Sam, it's okay..." Tom tried to reassure Sam but she had already disappeared through the double doors and out of cubicles.
"Mummy-"
"No, don't you go too. Mummy'll be back when she's calm herself down." Tom said as he pulled the railings up on the bed to keep both him and Ella on it. "Go on, take the sample." Tom nodded as he held Ella's hand and Zoe gently took the blood sample from her upper arm before she held a bit of cotton wool tightly over the puncture area to aid clotting.
"Right, I'll take this down to the lab myself alright, get it rushed through." Zoe stated. "And I'll put Ella's name into the system so that she's technically admitted as a patient.
"Yeah, thanks Zoe." Tom said gratefully as Daniel climbed on to the end of the bed.
"No worries."
9pm
Tom was lying on the bed with Daniel sleeping besides him and Ella fidgeting on his chest as he tried to settle his children when, fifteen minutes after disappearing, Sam returned to the cubicle.
"I'm sorry I ran off, I just... I needed some air and I felt sick." Sam mumbled.
"Were you sick?" Tom asked worriedly and Sam shook her head. "It's okay, we're just waiting for Ella's blood results." Tom said as he took Sam's hand in his and gave it a small squeeze.
"Why didn't we work it out sooner Tom? We're both doctors, how did we not-"
"Sam, we don't even know what's actually wrong with her yet. Besides, if it is haemophilia then there's nothing we could have done to make much of a difference." Tom stated.
"It's not haemophilia." Zoe announced as she arrived with an orange envelope.
"What is it then?" Sam asked as she wiped her eyes; she had clearly been crying but was trying to hide it.
"Ella has got what's called Von Willebrand disease. Have you heard of it before?" Zoe asked slowly.
"No, what is it? Is it serious?"
"Calm down, she's at no immediate risk." Zoe said softly. "Basically, I don't know a lot myself but from what I've just read online, it's an inherited blood disorder."
"Inherited? So one of us gave it to her?" Sam asked ashamedly.
"By the sounds of it, yes I'm afraid so."
"So Daniel could have it." Sam concluded worriedly.
"No, Daniel would've had his blood clotting factor checked before he had his ASD operation so I'm pretty sure he doesn't have it." Zoe stated. "I really don't know a lot about this so the best thing that I can do for you, is to refer you to a specialist in haematology. I booked you an appointment for tomorrow morning at 7:30am. And I can't give you the full day off, but it will be fine if you turn up for your shifts tomorrow an hour or two late okay?"
"So that's it? We've just got to go home and wait until tomorrow?" Tom asked confusedly.
"Yeah. I mean, rubbing Ella's knee joints might help reduce the swelling, but it'll probably just go away by itself overnight." Zoe replied.
"Thank you. For doing the test and for booking the appointment." Sam said gratefully.
"It's not a problem. I can imagine it's a lot to take on... I know it's not ideal, but it's late and the oncall room is empty so if you guys want to sleep in there overnight then that's fine. There's nappies and things like that in the store room and you can change into your scrubs in the morning."
"I just want to go home." Sam muttered helplessly.
"It's alright. We'll go home, I'll drive." Tom stated.
Tuesday 1st September 2020, 7:30am
The Kent Family had just entered a consult room on haematology after following a man who appeared to be someone in charge.
"Mr and Mrs Kent, I am Dr Mark Dolan and from now on, I will be Ella's consultant. Now I've been reading through her blood results and the symptoms that she's experienced, so really this appointment is just going to be me explaining to you what Von Willebrand disease is and how we can manage it. And don't worry, I am well aware that you two are doctors so in won't be dumbing it down like is usually have to." The man explained as Tom and Sam sat on the two chairs. Tom had Daniel on his lap and Sam had Ella leaning against her torso as she played with her mother's hair to occupy her. "Now, Von Willebrand disease, or VWD, is recessively inherited, so we already know that both of you are carriers. However, you may also have VWD, just a very mild version of it so we will be needing blood samples from you both to test you for it and we'll need to test Daniel to see if he is a carrier too. There are three main types of the diseas, type one, two and three. And Ella has type three which is the most serious, she has very little clotting factor, in fact almost none at all, in her blood which can cause nosebleeds, bleeding from the gums, bleeding in the bowels, prolonged bleeding and easy bruising. It can also cause very heavy periods in girls which often results in anaemia but with the right treatment, we can prevent that. Though we won't be able lighten her periods and that is generally, the major issue with VWD. Mrs Kent, this is a very personal question but I need to determine Ella's risk of developing heavy periods. Do you, yourself have heavy periods?"
"Yeah. I started taking the pill but it didn't have a significant effect." Sam replied.
"What's a heavy period?" Daniel asked.
"Sshh, I'll tell you later." Tom said quietly, though he hoped that his son would forget what he had asked.
"Okay well, the best thing to do would be to explain to Ella when she's older and nearer to starting about what we can do and what she might experience because it can be a bit of by shock at first-"
"I started when I was nine." Sam interrupted. "So did my mum." She added.
"Right well, she might not necessarily start at that age but we will be making future appointments for Ella. Currently, what I need to do is give you doses of Von Willebrand clotting factor which can only be used in an emergency if Ella loses a significant amount of blood. But it is not to be used if she has a nosebleed or some blood on her stools because that isn't enough to require it."
"I want mummy." Daniel cried as he reached his arms out as a nurse attempted to take a tissue sample from Daniel so that he could be tested for the gene.
"It's alright. We're both here Daniel, it's just going to be a tiny pinch and then it'll all be over." Sam said reassuringly. "Me and Daddy have got to have this done in a minute too so don't worry." Sam smiled, though she knew that she and Tom weren't having a skin tissue sample, they were having a blood sample taken to see if they had the disease too, though it would be in mild form if they did have it.
"Just do it." Daniel squealed as he squeezed his eyes shut.
"It's already done." The nurse smiled. "See? You didn't even feel it."
"Oh..."
"Right, who's next?" The nurse asked and Sam reluctantly got up, sat in the chair and rolled her sleeve up.
"I feel sick." Sam croaked as she and Tom laid in bed. And she knew that neither of them could sleep. Ella was fast asleep in her nursery and Daniel was asleep too but they had no idea that Sam and Tom were under so much pressure as they had to wait a few days for the results.
"I know. I do a bit too." Tom admitted as Sam rolled over so that she was facing him and he gently stroked her hair. Both could see each other in the moonlight that was coming through the window that they forgot to pull the curtains for.
"I mean, Ella's certainly got the disease y'know? We know that, we know what we can do and we know that she will definitely have a child that has the disease or that is a carrier, there's no way around it. But what if Daniel is a carrier? How do we tell him that his children could get a disease because of us? And then there's us. I know we're both carriers. What if I fall pregnant again? We've got a 50% chance of having a child that carries the disease, a 25% chance of them having the disease and-
"And a 25% chance of having a healthy child." Tom said softly.
"And I'm worried that I have the disease." Sam admitted.
"What?"
"Think about it, I've always had heavy periods. What if that's a symptom and-"
"Sam, you take part in MMA and other extreme sports, if you have a blood clotting disorder, you'd have found out by now. Some women just have heavy periods for no reasons." Tom said reassuringly. "Look, we've just got to wait for the results because that's all we can do. There's no point in worrying about them because we can't change them, what's done is done. Please don't cry... I hate seeing you sad." Tom admitted as he brushed his thumb along Sam's cheek and wiped a tear away. "Anyway, I've been meaning to ask you have you actually started your periods since you gave birth?" Tom asked curiously.
"Not yet, no." Sam sniffed as she shook her head.
"Alright. I just wanted to know. Now come on, try and get some sleep before Ella wakes up for her next feed." Tom ordered as he pulled the duvet up to their chins and wrapped his arm around her.
Coming up: Sam and Tom get the results back, is Daniel a carrier? And does Sam have the disease? Then, a few months later, they have a power cut and Sam comes up with an idea to spend their money that they won on the lottery.
Thanks for reading, please review :)