tv Bittersweet Medicine BBC News February 18, 2023 4:30pm-5:01pm GMT
this is bbc news. the headlines. uk prime minister rishi sunak urges world leaders to "double down" on military support for ukraine in a speech to the munich security conference. he says allies must give the country "advanced, "nato—standard ca pabilities". mr sunak has met with european commission president, ursula von der leyen, on the sidelines of the conference as speculation grows that a deal is close on northern ireland's post—brexit trading arrangement. rescue teams pull three people out alive, from under collapsed buildings in turkey — almost two weeks after the quakes that killed more than 16,000 people across southern turkey and northern syria. and a qatari consortium has
submitted a bid to buy manchester united — bbc sport understands that a rival bid was also tabled by ineos. now it's time for bittersweet medicine. this is a story of hope. how a new treatment is stopping a devastating genetic disease in its tracks. we have had almost nothing to offer families with this condition for decades. bringing a new medicine to the world that can potentially cure these devastating diseases is incredibly satisfying and rewarding. how britain's most expensive medicine is giving children their lives back. it's amazing. i mean, she's such a little character — and for her to receive this treatment is just
an absolute blessing. they're literally walking, running miracles, you know? they shouldn't be here. i'm fergus walsh, the bbc�*s medical editor. i've been following the first patient treated by the nhs with this life—saving drug, and meeting families affected by one of the rarest and cruellest of genetic conditions. # nala, charlie, nala, charlie shaw... this is the shaw family, from northumberland. mum and dad, ally and jake, and their two daughters, nala and teddi. i've always said nala saved teddi's life. and that's how i've wanted to think about it. whee! the family are living
under the shadow of a devastating disease — a rare life—limiting genetic disorder called mld — which is already taking a toll on nala. days out like this are one way the family are building happy memories with their girls. and there's one sure way to please any toddler. more cake? yes, more cake! nala was once just as lively and active as her younger sister. she was such a cheeky little character. she was always, like, kind of, singing, dancing, spinning around everywhere, always laughing. she was just a cheeky little girl.
very theatrical, wasn't she? everything was all... every morning, i would do a little instagram video. and everybody would message and just say how she brightens their day, makes their day, because she was just so funny. she was just a completely normal toddler. but by then, she had started showing signs — her walking had got uneven, she had started falling over more often, and the tremor had also started. these were the first signs that something was wrong. i was convinced she had a brain tumour, and everyone was telling me i was being stupid. and then, yeah, she went out for the mri — and within about 45 minutes, the doctor had come back off. so when she said "it's not a brain tumour," i was doing cartwheels almost, i was so excited. and then, when she said, metachromatic leukodystrophy, obviously no one's ever heard of that. and as soon as she left,
jake googled it — and i could tell by his face that it wasn't good news. you see the water? metachromatic leukodystrophy — mld — is a single—gene disorder. both jake and ally are carriers of the faulty gene, but are unaffected. each child they have has a one—in—four risk of inheriting both copies of the faulty gene, and so having the condition. wow, wow! tests showed that, like nala, teddi has mld. i thought to myself, it was like, "it can't happen again, "with a one—in—four chance, we can't be that unlucky. "we've been unlucky enough for it to happen the first time." but when we found out, it was just, again, just heartbreaking. around one in 100 of us carries
the faulty gene for mld. but both parents have to pass on that gene for a child to have the condition, which makes it rare. it affects around one in 40,000 babies in the uk. if you've never heard of mld, you're lucky. babies with the condition are born apparently healthy — but over time, it strips the protective layer from nerve cells, causing progressive damage to the brain and other vital organs. patients gradually lose the ability to move, talk, swallow, and see. britain's biggest children's hospital is in manchester. it is a specialist treatment centre for mld and other rare genetic diseases.
i've been looking after children with mld for 17 years now, and watching many children pass away because of this untreatable, incurable, and very life—limiting disease. so how does a single faulty gene cause so much damage in children with mld? so there's mistakes in a gene, which means the body can't make an enzyme. the job of that enzyme is to break down a really important chemical for how our brain functions and works. and so, it gradually builds up and builds up in the brain until this catastrophic point, usually by the age of two, where children start to lose, as i said, all of those abilities. but now, there's a treatment for children with mld — a form of gene therapy called libmeldy. it's a medicine which can help one of the shaws�* daughters, but not both. so when they told us that there was treatment available for teddi, it was, kind of, like,
a bitter pill to swallow because nala can't be helped. so, you know, we're extremely grateful, in one sense, and really sad on the other side, so... i can't really imagine what it is like for families to have to receive news that one of their children has an incurable disease — and the other child is also affected, but we can offer a treatment for that child. it's june 2022. teddi will be the first patient to receive libmeldy on the nhs. she can be helped because, unlike nala, mld was picked up before irreparable damage was done. she's taken it in her stride. she obviously hasn't been great when getting all of the needles and things in her. but to be fair, she's actually dealing with it quite well. hold on...
it's a personalised treatment. teddi's blood is being filtered to collect stem cells. these will have a working copy of the faulty gene added to try to stop the disease doing further damage. if she understood, then she might cope with it a bit better. but she just keeps looking at people saying, "why are you doing it?" i feel like she's looking at me going, "mum, why "are you doing this to me?" all done! all done for today. hopefully got them all. and here are teddi's stem cells. the first stage of her treatmentjourney is over. so this box, which contains the bag of stem cells collected this morning from teddi, is going now to italy. scientists in milan will insert the missing gene. it's the only place in europe where this lab work is done.
it'll be a few weeks before teddi is back in manchester to receive her modified cells — the personalised treatment called libmeldy. so these cells have a natural ability to traffic or migrate . across the blood—brain barrier. libmeldy was developed by a british company, 0rchard therapeutics. | by putting a gene into those cells, | you've got an opportunity to deliver that gene to the brain. their ceo has combined a career in research with treating children with rare disorders. bringing a new medicine to the world that can potentially cure these - devastating diseases is incredibly satisfying and rewarding. - getting to this point has taken a long time. well, i think it's been - a journey of nearly 20 years. so this started off as experimental studies back in the early 2000s. . | i think the first study to showj
that it could correct an animal model was published in 2004. and then, went to treat l the first patients in 2010. so we got approval in december 2020 in the eu, and now it's— available on the nhs. so it's a very long journey, to be able to develop - a medicine like this. coming out of the deep freeze... ..this is libmeldy. it's been cryopreserved in liquid nitrogen for the journey from milan to manchester. teddi's gene—altered cells are gently brought to body temperature, ready to be infused. you've got such strong grip, young lady! the waiting is nearly over. nearby, in her room, teddi has chosen today
to attempt her first steps. this is all day, i'll be doing this, is it? pretty much. if you can just stay so i can have a break, that would be lovely. the contents of this bag cost more than £2.8 million. that's the list price of libmeldy, the most expensive drug ever approved for the nhs — although a confidential discount has been agreed. so how is teddi doing? because she's had some really pretty strong treatment in the last few days, hasn't she? teddi has had chemotherapy in order to kill off the remaining faulty cells in her bone marrow, which will be repopulated with her personalised gene therapy. she's doing absolutely fine. she's not even been fazed one bit so far. obviously, i know there's probably the worst bit to come. but considering what she's
been through in a week — she's no different, are you? you're stilljust your mischievous, normal little self. and this is the moment. this one—off infusion should, if all goes well, stop teddi's mld in its tracks. teddi will need to spend several more weeks in hospital while her gene—altered cells make their way to her bone marrow and start to produce the crucial missing enzyme that causes her condition. to find out how effective libmeldy is, i went to meet another family in norfolk, whose children were treated in italy, where the clinical trials took place. hey, felix, go! they're literally walking,
running miracles. you know, hey shouldn't be here. oscar and felix are living proof that libmeldy works. you know, they're in mainstream school. they're keeping up with their peers. you know, they do their football club, they do their gymnastics. the twins were treated in milan when they were less than a year old — now they're seven. what are your hopes for the boys? that they'll continue to carry on thriving like they are, and live happy, normal lives. we can't call it a cure yet, because we're not that far enough down the line to call it that. but it is, because the boys shouldn't be here — and they are. so in my eyes, it has cured them, it's given them the life that they wouldn't have had otherwise. i'll hold the bread up. you can't hold the bread while i butter it. leah was pregnant with oscar
and felix when she found out that her eldest child, paige, had mld. right, sit down on your bottoms. while it meant the twins could be helped, because their condition was identified soon after birth, paige's disease was too far advanced for her to be treated. paige died in 2017, aged five. she was cheeky...yeah. and her spirit stayed with her, despite herfailing health? yeah, yeah, she was cheeky till the end. it was probably one of the harshest moments throughout paige's life, to be fair. when we got told she has mld, like, "what can we do about it?" "there's nothing you can do.
"you've just got to make her as comfortable as possible." and that was the hardest thing to take. and how do you remember her? 0h, we always celebrate her birthday. just myself and leah have a quiet day ourselves. and every birthday, we always release a balloon for her, and we always remember her. what was she like? 0h...erm... tearfully: yeah, she was amazing. it's november 2022 — three months since teddi received libmeldy.
the last time we saw ally and her daughter, teddi, they were still in hospital in manchester. now they're back home here in northumberland. so i'm looking forward to seeing how teddi's getting on. teddi, at 16 months old, is clearly going from strength to strength. she's the first patient to have libmeldy on the nhs. i mean, it's amazing. i mean, she's such a little character — and for her to receive this treatment is just an absolute blessing. this little piggy went to market... but for three—year—old nala, mld is progressing rapidly. whee, all the way home! since being diagnosed in april 2022, she has lost the ability to walk and talk, and is now tube—fed.
i mean, from her being such a happy child that can do anything that she wanted to do, to not be able to do anything for herself any more, it's just absolutely heartbreaking to watch. you feel like you're grieving from the very start because your child's disappearing almost in front of your eyes. if she was born like that, then from the day she was born, we would've known what we were dealing with. but the fact that we had just a normal toddler, and then, all of a sudden, our worlds have been turned upside down with a terminal diagnosis that'sjust, you know — you don't really know what to say or what to think, really. her body is basically, kind of, gradually shutting down. she will lose her eyesight, she will lose most of her senses. so, it will basically come to a point where there's nothing left for her to lose. # and i won't let you go,
but i will let you down easy. # i will hold your hand. # and i will kiss you goodnight as i put you to bed... jake has recorded a song for nala, which he hopes will raise awareness and money. # and i will kiss you goodnight as i turn out the light... so i wrote it originallyjust to, kind of, help me deal with the situation, help me deal with my feelings. i wrote it, and i sent it to my friend after a few beers one night. and he says, "right, we're recording it." so i wanted to donate all the proceeds of the track to the mld support association uk, which helps a lot of families with children with this disease. it's just the most horrific disease.
it's like, i hope that nobody ever has to hear them three letters — because if they do then, you know, means their lives changed like ours has. and it'sjust so cruel. we're on the cusp of a revolution in the treatment of genetic disorders. it's hard to believe, but 12—year—old joe was born with mld. he was one of the first children in europe to be treated with libmeldy, as part of a clinical trial in italy way back in 2014. it's given him his life back. he has such a good life. he makes the most of every moment. joe is completely healthy. his faulty gene looks to have been fixed permanently.
we're grateful for the life thatjoe's been given. - and he's grateful — i he makes the most of absolutely every opportunity. literally every opportunity that comes his way, - he grabs and enjoys his life to the nth degree. - but personalised treatments like this cost a small fortune. when libmeldy was approved, it was the world's most expensive medicine. at more than £2.8 million, it's still the second—costliest drug — surpassed only by a similar gene therapy approved in the us in late 2022. i mean, this truly is a breakthrough. we have had almost nothing to offer families with this condition for decades. instead of many years of terrible neurodegenerative disease, we have the potential for a full life lived healthily.
and so, it's very difficult to put a cost on that. the health assessment body, nice, says libmeldy is one of the most clinically effective treatments it has ever appraised. 0nly around 7—8 children a year in the uk are likely to be eligible for it, which will limit the financial returns for the manufacturer. here is a disease that has a huge burden not on the child, but also on the family, and also on the nhs, as well. we're now offering a single administration, a once—only administration that could have a potentially curative effect for that child. and so, it's really about valuing that type of medicine, that kind of benefit that it offers. the exact cost to the nhs of libmeldy is undisclosed, because it negotiated a confidential discount.
the price has to be compared to years of treatment for patients terminally ill with mld. several thousand children are born in the uk every year with single—gene disorders. many of the conditions are devastating and life—limiting. but the success of libmeldy is giving hope to other families. i think it will be transformative in genetic diseases. _ many of the kids i transplant have genetic diseases of the blood - or the immune system, _ which means they have a faulty gene. actually, libmeldy shows that we can take their own stem cells, _ put in the gene that their illness is deficient or faulty in, - and correct the condition - following a transplant using these gene—modified stem cells. royal manchester children's hospital is trialling similar treatments for two other rare genetic disorders, with more conditions likely to follow.
this is the newborn heel—prick blood test. its purpose is to screen for nine treatable genetic conditions, including cystic fibrosis. families affected by mld want it added to the nhs screening programme. if we'd have got there sooner with connie, if we realised there was an issue with connie sooner, then she would still be here with us now. connie, joe's older sister, wasn't diagnosed until she was five — too late for treatment. she died last year, at the age of 13. you really need to be looking at newborn screening. we can test for it, we can treat it. these children just don't need to be dying the most awful,
horrific deaths that they're being subjected to. it's just not, it's not fair. for the scott family, screening might have meant their daughter, paige, could have been treated. it would literally save children's lives because, as soon as we know about it, they can receive the treatment. but if it's left too late, we can'tjust rely on an older sibling getting ill first and having to watch them suffer to then save the younger sibling. like, they should all have a chance. doctors say newborn screening would ensure mld is picked up long before permanent damage is done, preventing suffering and saving lives. it is simply not good enough to offer a treatment only. to children who have a family. history and an affected sibling. we must be offering it more widely. we now have the technology to be able to screen for these conditions. we have the ability to offer
potentially curative therapies, and we are letting our children down by not screening for these conditions because those devastating conditions are so preventable if you can identify them at birth, and then offer these kinds of innovative therapies. as forjake and allie shaw, they don't yet know how much time they'll have with nala — whether it's months or years. one thing they're certain of is wanting to ensure other families are spared what they're going through. it's too late for our child, but i would like to think that if another child was born, it could be picked up quick enough for them to be saved. ijust want to get as much awareness out there as possible, and i think the more awareness we have and the more people pushing for it to be put on the blood spot test, then it's a good place to start, isn't it? years, we spent not knowing
what was wrong with nala — and if there was more awareness about it, we could've caught this earlier, and maybe we wouldn't be in this position. hello there. we've seen a lot of cloud streaming our way today on a westerly breeze. earlier on, the best of the sunshine was across northern parts of scotland. other parts of scotland have seen some cloud and some rain. that will pull away this evening and overnight. and many other parts of the country will become dry as well. a few breaks in the cloud, the best of those probably in northeast scotland. so the risk of some icy patches here with temperatures close to freezing. 0therwise those numbers are more comfortably sitting at around seven or eight degrees. tomorrow will be a windy day in scotland. we'll see the cloud thickening. some rain at times, very different day in northern scotland. that rain will be heavy at times.
we've got a cloudier picture across northern ireland, northern england. it may well stay dry. further south brighter, more in the way of sunshine that we've had today across southern parts of england and south wales. another mild day, temperatures 11 to 13 degrees. so those temperatures are a little bit higher than they were today in scotland, despite that stronger west to south—westerly wind which will be touching gale force in the far north—west of scotland later on. and we'll see that rain moving away from northern areas of scotland, the northern isles. and then the second weather front slips down into the northern half of scotland. to the south of that, we still have a lot of cloud around. many places may well be dry overnight and a pretty mild one. the lowest temperatures probably across east anglia and the south east of england after those high temperatures during the day. heading into the beginning of next week, we still have this very mild west to south—westerly wind. along that temperature boundary, of course, we find a weather front that will get stuck in scotland and there is quite a deep area of low pressure well to the north of scotland, that will bring some windy weather overnight. first thing on monday morning, the winds could be
touching gale force. it'll be a breezy day. elsewhere across the country, we've got the weather front bringing that patchy rain across central parts of scotland and to the south a lot of places will be dry. there'll be a lot of cloud. probably the best breaks in the cloud, eastern england and eastern parts of wales. and those temperatures still sitting around 11 to 13 degrees. so we have a mild start to the new week. it'll probably be mild into tuesday as well. middle part of the week could see a little bit of rain arriving and then the wind direction changes and things will cool down just a little bit. so these are our city forecasts over the week ahead and you can see how those temperatures do drop away a bit later on in the week. not desperately cold and we start the week with temperatures as high as 14 or even 15 celsius.
this is bbc news. welcome if you're watching here in the uk or around the globe. our top stories... western leaders make further appeals for military support for ukraine at the munich security conference. ukraine needs more artillery, armoured vehicles and air defence, so now is the moment to double down on our military support. mr sunak will also meet with european commission president, ursula von der leyen, on the sidelines of the conference to discuss northern ireland's post—brexit trading arrangement. rescue teams pull three people out alive, from under collapsed buildings in turkey — almost two weeks after the quakes that killed nearly 46 thousand people.