02 - The Day Everything Changed

In this episode of Bravely Together, I share the story I never thought I’d have to tell - the day we received my daughter’s diagnosis. From the first concerns and missed milestones to the tests, the long waiting game, and finally hearing the words that changed our lives forever.

This episode is raw. It is hard to share. But it’s real, and it matters - because too many parents walk this road in silence.

If you’ve ever felt like no one else could possibly understand, this one is for you.

Content note: This episode contains discussion of child diagnosis, terminal illness, pregnancy during medical crisis, and emotional trauma. If you are currently in a vulnerable place, please take care of yourself and feel free to pause or come back to this episode when you are ready.

💛 Loved this episode?
If the Bravely Together podcast has brought you comfort, clarity, or connection, you can now support the show by choosing a pay-what-you-want contribution - every little bit helps keep us going:

👭 Need a space to feel held, heard, and understood?
Come and join the Bravely Together Community of medical mums - a place where you don’t have to explain. Just real support, gentle tools, and people who truly get it.

Transcript

Hello my lovelies and welcome. My name is Leah and I am the founder of Bravely Together. This is my six-part mini-series for mums who are navigating the most unimaginable thing that any parent can face. 

A child with a life-limiting condition, complex medical needs or any additional care needs really that just add to that level of care that our children require from us. So today is episode two and I'm going to be sharing how we actually received my daughter's diagnosis, the lead-up to that, the day of diagnosis and how things kind of panned out after that. So as you can imagine this is quite an emotional episode for me to share. 

It's still difficult because it is right. At the end of the day we received an awful diagnosis that told us that we were going to lose our daughter and not only that I was pregnant with her twin brothers and we'd already been told that they would have a one in four chance of having this same awful condition. So let's take it back. 

Where do we begin? So I think I mentioned in the first episode that we first started to notice that my daughter Paige wasn't kind of holding on to things as well as she probably should be. She wasn't hitting those milestones on time and when she was she wasn't particularly strong in those actions. But as I said this wasn't of any concern to the health visitor when she came along and did her checkups and so we just thought that she was just one of these children that was doing things in her own time and she'd do it when she was good and ready and that absolutely was the kind of little girl that my daughter was. 

She was not doing anything for anybody else until she wanted to do it and so we weren't really too concerned until we got to her second birthday and she still wasn't walking independently. She would walk holding our hands and holding on to her toy push chair and those sort of things but independently she couldn't take more than a couple of steps. She would just fall to the ground and it wasn't for trying. 

You could see that she was trying to take more steps that she was really putting in the effort but it just wasn't physically possible for her. So of course we decided to go to the doctors who initially reassured us said that some children are just slower at doing these kind of things. So even though the doctor at the GP had reassured us he still agreed to refer us to the hospital just to get things like her hips checked out and that there wasn't something untoward going on there and so this is really where it all began.

We then went and saw a bone specialist who straight up was like I can't see anything wrong here. She's good, she's strong but I don't want to just dismiss everything you've told me and so he referred us to I believe it was the community team and so yeah we went along to that next appointment and met a really lovely consultant who really took the time to sit and listen to everything that we had to say that we felt was of importance and didn't dismiss anything that we felt you know was different in our daughter compared to friends of little ones. So the consultant that we met at that appointment was really lovely. 

She was very reassuring, listened to everything we had to say and did explain that she felt something wasn't right here, that she agreed with us, we needed to investigate further but she did make a point of saying that she didn't feel like this was a brain tumour, she didn't feel like this was some form of childhood cancer and so of course we were relieved to hear that and so of course we felt relief. We kind of took that as the worst that's going to happen here is we are going to be told something that will mean that our daughter will never be able to walk, that she would be wheelchair bound and obviously at that point that was heartbreaking enough in itself. It just meant a whole completely different kind of lifestyle for her and for us that we would then have to navigate. 

I remember clearly at the end of that appointment that we were kind of saying our thank yous and that we would speak to her again soon and that in a couple of days we were actually off to the hospital because I was having a 12-week scan because I was pregnant and now I can say I saw something in her face that just was not good. I saw a look of sheer panic because I believe that even at that early stage she knew she had a really good idea of what we were going to be facing and of course what we were facing was a genetic condition meaning that this pregnancy was now a risk. So things started to move really quickly at that point. 

I think the fact that I was pregnant really sped things up because there was then a risk to the unborn children and so as I think I mentioned in my previous episode a couple of days later we did then attend our 12-week scan and I really hadn't thought too much about it. I felt as well as I did in my first pregnancy and I just wanted to kind of get the appointment out of the way just know everything was good and we could concentrate on what was going on with our daughter. I had not prepared myself for what came next. 

So as we attended this appointment and I was laid there having my tummy scanned really trying to embrace being at a positive appointment this was something good for us something to really look forward to and yeah the lady said to me so would you like a surprise and instantly I had this nervous giggle and I was just like no really we don't need any more surprises in our life right now and she said well you have one healthy baby and you also have another healthy baby you are pregnant with twins and it was just such a confusing wave of emotions like how incredible pregnant with twins what are the chances I mean I don't know the statistics on that kind of thing of falling pregnant naturally with twins but it was not something that we were expecting and so that then meant that we then had extra appointments for the pregnancy because of it being a multiple birth and I think there was some concerns with the pregnancy at the time which obviously turned out to be nothing significant. I ended up having scans every two weeks along with all the appointments that we were having for our daughter so yeah we spent a lot of time at our local hospital and I suppose I can't remember the timings very well but I know that probably it was about a few weeks after that we were then having a lot of blood tests done and of course my little girl was two she did not enjoy having blood tests done and it was horrible we had to physically restrain her just to get these tests done and on one occasion we were called back to the hospital late in the evening because they did actually think that she had Leukaemia and they wanted to run some more blood tests to confirm that now fortunately that wasn't the case and once again we felt this huge wave of relief whereas now in hindsight I just it would have been amazing if that was what she was diagnosed with not because I don't doubt for one single second that any child going through that diagnosis isn't awful I just can't even begin to imagine but at least you can do something there are drugs you can have there are treatments available you can fight it you can have that tiny bit of hope that your child might make it however the diagnosis that we were given had no hope so once we got over that it then just felt like a long wait now if anybody's listening that has had a child diagnosed with a rare genetic condition you will know that these tests can take weeks and weeks months and months to get that final diagnosis and in the meantime we did start to notice that things were changing with our daughter she was struggling to sit up straight she was struggling with her swallow she was slurring her words she was dribbling excessively and so we had lots of different teams within the healthcare system start to come into our life and it was all very overwhelming it was a lot I would joke that I needed a PA just to answer my phone and to make appointments because it was just relentless my phone was always ringing there was always somebody trying to make an appointment and our days were just filled with either healthcare professionals visiting our home or us making another trip to the hospital and I suppose we were kind of spoon-fed preparing us for this diagnosis I'm not sure if that's because I was pregnant and they didn't want to put me under unnecessary stress until they were 100% sure of what we were dealing with but we were kind of told really small things in really no big deal way so for example we had the occupational therapist and physio visit us at home and I remember them talking about a wheelchair and I said oh so do you think she's going to need a wheelchair at some point and they just again it was just that look on their face of oh god she has no idea and I didn't I had no idea of what what was coming they did but because we didn't have that formal diagnosis no one could tell me and so they were very diplomatic they just said yeah we really think that she's definitely gonna need a wheelchair at some point even if it's not for all the time gradually over time we then had more and more disability aids I suppose come into our home we received a medical push chair and different seating apparatus shall we say to help support her in being able to sit up and we had speech and language get involved to monitor a safe swallow for her which became obvious that that was something that she was struggling with and so the biggest turning point for us was when they told us that she would need to have a peg fed in order for us to start to administer some medications and eventually that would be how we would feed her because her swallow had deteriorated that much that she wasn't able to consume enough calories to maintain a healthy weight and all of this was happening while we still had no diagnosis we still had no idea of what the final outcome was going to be and I truly had convinced myself that it wasn't that bad because it wasn't cancer it wasn't a brain tumor we weren't dealing with the big scary things that we hear about all the time that these poor children have to go through and so when it came to the time that they they did they finally had the diagnosis for us and they asked us to come into the hospital without our daughter this time so that we could just talk and I remember saying to my mum it's fine you know me and my husband will just go find out what this is and then we'll come back and let everybody know and my mum had been pretty savvy on the old google and had miraculously worked out what she thought this diagnosis was going to be of course she hadn't told us that at this point because she didn't know this was just her her hypothesis of what she thought was going to be the diagnosis with all the symptoms and tests that had been run so she was adamant that she was coming to this appointment and whether that meant she sat out in the waiting room for us she was happy to do that but she wanted to be there and yeah the appointment was horrific really we were given the name of the condition and then explained that it was under an umbrella term of leukodystrophies so the condition that my daughter has or the condition that my daughter had was metachromatic leukodystrophy metachromatic leukodystrophy but there are many different types of leukodystrophies all with the same horrible fateful outcomes but this one in particular was late infantile metachromatic leukodystrophy which meant that symptoms would begin around the age of two three years old which is exactly what happened and that she would progressively deteriorate and revert back to a baby basically she wouldn't be able to stand hold things swallow speak all of the above and as they explained that she would gradually get worse and worse and that this meant that this was a life-limiting condition and the doctor was very reluctant to give us a time frame but i told her that you know we needed we needed to know even if it was just a rough guide and so she told us that it was a life expectancy of five years or two to three years from diagnosis and at this point our daughter was approaching the age of three years old and life changed in that instant forever and it didn't take long for the realization to click that i was sitting there pregnant with twins who could also have this awful awful condition and so we came out of that appointment very grateful that my mum had insisted that she came along and kind of just took some time to sit and process before we went back to then have to tell family and friends the outcome and yeah i'm sure you can tell in my voice that even now this is still super super difficult to talk about and naturally it just brings back all those emotions of just absolute internal pain like an actual real physical pain and once we'd received that diagnosis it was then a question of the pregnancy what were we going to do about it was i going to be tested were the twins going to be tested whilst i was still pregnant if they were told if we were told that they to then had the condition i was eligible to terminate that that pregnancy even at such a late date which was never never a um a question in my mind regardless of whether they had this condition or not i was over six months pregnant i was never going to terminate that pregnancy and so because i'd made that decision quite instantly we made the decision not to test them until they were born and i think we just kind of went off the premise of we can't possibly be that unlucky like the twins will be fine the twins are going to come along and just lighten everything for us all like we of course we'd be kept very busy with two babies but the joy of newborns would really help us get through these next difficult months years and yeah life continued i suppose as it does you know you think that when your child is diagnosed with a life-limiting condition or your child passes that somehow the world's going to stop and everybody's got everybody's going to stop with you but it doesn't the world continues to carry on as if this tragic thing hadn't just happened because to everybody else it hasn't they are just getting on with their day-to-day lives and so i suppose we got on with our day-to-day lives it looked very different to how it did before but this was our new normal soon my daughter had a peg fitted she went into hospital had to go under general anaesthetic to have this surgery done and i truly believe that that changed something in her after that general anaesthetic she deteriorated a lot and it was her third birthday when we brought her home from that surgery and we brought her home to a hospital bed in our lounge and a hoist system for her which isn't the kind of birthday present that you plan to give your three-year-old and so the boys were born it was not a straightforward labor as i'm sure you can imagine with twins they ended up being a emergency c-section and we did just take the first three four weeks to just enjoy them to just be blissfully ignorant as to whether or not life was gonna hit us with another curveball and just yeah embrace those newborn stages with obviously still caring for our daughter who was deteriorating before our eyes and we did have to attend an appointment at great ormond street for our daughter page and whilst we were there they offered to do the blood tests required to check if the boys too had this condition and so it was quite a spontaneous okay we're here let's just get this done and so they did the bloods and we decided to book a just wanted to get away escape from it all really and the holiday didn't particularly go to plan we didn't go abroad of course because our daughter just wasn't well enough to travel at that time but we ended up having to call an ambulance out for our daughter at one point um being in a hospital that didn't know us and again if you have a child with a rare condition and you have to go to a hospital that isn't the usual hospital you attend you see that look of panic on the doctor's face when you tell them the condition of your child and you know they've never heard of it before you know they're thinking shit what am i supposed to do here and nine times out of ten you as the parent you as mum are the one that will probably be telling them what your child needs what drugs they need what tests they might need to run and we just wanted to get out of there we got the drugs that we needed my daughter perked up and i just wanted to get back home so that should she need to go back to hospital we could go back to the hospital where she was known so the hospital the holiday was a bit of a disaster we had maybe one or two good days and then we ended up coming home a day early and after returning from that holiday we then went into hospital with our daughter because she still wasn't right so she was admitted and whilst there the same consultant came and asked to speak to me and my husband because they had the results for the twins and it was very obvious of what we were going to be told however they were insistent that we'd go and find a room so that we could sit and talk and yeah we sat down in that room and the consultant didn't need to say anything really she just confirmed our worst fears that the boys too also had metachromatic lupid dystrophy and i think even she was shocked and heartbroken for us i mean this poor woman had to tell us that all three of our children were terminally ill and yeah i can't imagine that that was an easy task for her to come and get us to tell us that you know our twins also had this condition however there was light at the end of this very long dark tunnel and that was that of course when our daughter was diagnosed we were told there was no cure no treatment no nothing this was a rare genetic condition and she was just going to have to be kept as comfortable as possible for as long as possible until the inevitable outcome came that she would pass but of course as parents you look you look anyway you look there must be an answer out there right there's got to be someone out there that's looking for a treatment for a cure and so we had seen a few things so we knew that there might just be an answer for our boys and fortunately our consultant was on it as well and with our permission she contacted Great Ormond Street Hospital where we had a con where she had a contact who was then connected to a trial treatment that was happening in Milan, Italy and we were very quickly put in touch with them we had telephone calls and we then went to meet this i can't remember the title he held i think he was a bone marrow specialist but prior to working at Great Ormond Street he had worked with this team in Milan on this treatment for MLD and so he put us in contact with them and the trial had ended however they agreed because there was no other options we could have done a bone marrow transplant here in the UK but they knew that that wasn't a long-term fix and that it wouldn't give the boys much more time and so we went off to Italy and met the team there they met the boys they did some tests and they agreed to treat the boys on compassionate grounds there was a lot of bureaucracy, paperwork, who was going to pay for what we started fundraising because we didn't know if we were going to have to cover costs but eventually it was agreed that the NHS here in the UK would fund some of the treatments so the cost of the bone marrow transplant they would fund because had we done the treatment here in the UK that is what they would have funded for the boys anyway so they agreed to cover that cost and then the rest of the cost which was for the actual trial treatment was funded by the company that was running the trial so when my boys were just seven months old we then upped and moved Styx to Italy to receive treatment for them and initially my husband and my daughter came out there with us but very quickly it became obvious that she just was not comfortable out there and honestly we weren't comfortable having her out there we did get the team in Milan to see her and gave us some advice around some things that we were struggling with in terms of her symptoms which was incredible because obviously they were specialists in the condition of MLD but on a day-to-day basis we knew that she would be so much better at home with all the carers and the nurses and the hospice care that we had in place for her she was missing that by being in Italy with us so we made the really difficult decision for my husband to fly home with her and for me to stay in Italy with the boys and I think that's where we should wrap this up because otherwise I will just go into what will be the next episode and so yeah I would like to say that I hope you enjoyed this episode but quite possibly it was difficult to listen to as difficult as it was for for me to talk through this episode but it's the truth it's the story it's raw it's real it's shit but that is what happens and I just want you to know that even if now like all these years later even if it still brings up all these emotions and this pain that's completely normal completely normal when you are bringing it all up and talking about it because of course I don't talk about this as often as I did and honestly it's kind of nice to remember those days remember those times where we had our daughter and our boys together because there was good times too amongst all the heartbreak and the meds and the healthcare professionals and the appointments we still had some really special days together and I just hope that you can see that those were my darkest days and I've overcome them you know I'm here I'm now supporting mums who are going through similar journeys and my boys are both doing incredibly well I now have another little boy who's three years old and life is just incredible and I think when you've been through something like this you just have this absolute gratitude and passion for life that you otherwise wouldn't have and that's something that I'm so so grateful for is something that you know my daughter really taught me and I don't wallow in what happened to us I embrace it and I'm grateful because it's made me who I am today and now I live a life that I would like my daughter to be proud of because I'm living not just my life for me but I'm living this life for her as well that she never got to have so yeah let's end this this episode here and I look forward to our next chat because hopefully it's going to be a bit more upbeat than this one was but yeah if you've been through anything similar and you'd like to reach out and chat and ask any questions then please do this is why I've created Bravely Together if you can relate to any part of this episode and you feel like you just don't have anybody to talk to nobody that can truly listen and hear what you're saying or you don't have a space where you feel held and supported in what you are going through then that's where Bravely Together comes in all the details will be in the notes if you'd like to join this community then you are absolutely more than welcome and I look forward to catching up with you all on the next episode thanks for being here I'll see you soon