Found in the river wyre close to where she disappeared. The mother of two was last seen walking her dog late last month. Now on bbc news, 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 britains most expensive medicine is giving children their lives back. Its amazing. I mean, shes such a little character and for her to receive this treatment is just an absolute blessing. Theyre literally walking, running miracles, you know . They shouldnt be here. Im fergus walsh, the bbc� s medical editor. Ive 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. Ive always said nala saved teddis life. And thats how ive 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 theres 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, wasnt she . Everything was all. Every morning, i would do a little instagram video. Yay 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 its not a brain tumour, i was doing cartwheels almost, i was so excited. And then, when she said, metachromatic leukodystrophy, obviously no ones ever heard of that. And as soon as she left, jake googled it and i could tell by his face that it wasnt 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 cant happen again, with a one in four chance, we cant be that unlucky. Weve 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 youve never heard of mld, youre 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. Britains biggest Childrens Hospital is in manchester. It is a Specialist Treatment Centre for mld and other rare genetic diseases. Ive 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 theres mistakes in a gene, which means the body cant 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, theres a treatment for children with mld a form of gene therapy called libmeldy. Its 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 cant be helped. So, you know, were extremely grateful, in one sense, and really sad on the other side, so. I cant 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. Its 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. Shes taken it in her stride. She obviously hasnt been great when getting all of the needles and things in her. But to be fair, shes actually dealing with it quite well. Hold on. Its a personalised treatment. Teddis 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 shes 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 teddis 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. Its the only place in europe where this lab work is done. Itll 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, youve got an opportunity to deliver that gene to the brain. L 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 i is incredibly satisfying and rewarding. Getting to this point has taken a long time. Well, i think its 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 its available on the nhs. So its a very long journey, to be able to develop a medicine like this. Coming out of the deep freeze. This is libmeldy. Its been cryopreserved in Liquid Nitrogen for thejourney from milan to manchester. Teddis gene altered cells are gently brought to body temperature, ready to be infused. Youve 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, ill 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. Thats 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 shes had some really pretty strong treatment in the last few days, hasnt 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. Shes doing absolutely fine. Shes not even been fazed one bit so far. Obviously, i know thats probably the worst bit to come. But considering what shes been through in a week shes no different, are you . Youre stilljust your mischievous, normal little self. And this is the moment. This one off infusion should, if all goes well, stop teddis 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 theyre literally walking, running miracles. You know, hey shouldnt be here. Oscar and felix are living proof that libmeldy works. You know, theyre in mainstream school. Theyre 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 theyre seven. What are your hopes for the boys . That theyll continue to carry on thriving like they are, and live happy, normal lives. We cant call it a cure yet, because were not that far enough down the line to call it that. But it is, because the boys shouldnt be here and they are. So in my eyes, it has cured them, its given them the life that they wouldnt have had otherwise. Ill hold the bread up. You cant 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, pages disease was too far advanced for her to be treated. Paige died in 2017, aged five. She was cheeky. Um, 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 paiges life, to be fair, when we got told she has mld. Like, what can we do about it . Theres nothing you can do. Youve 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. Um. Tearfully yeah, she was amazing. | its 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, theyre back home here in northumberland, so im looking forward to seeing how teddis getting on. Hi, nollie that was cute teddi, at 16 months old, is clearly going from strength to strength. Shes the first patient to have libmeldy on the nhs. I mean, its amazing. I mean, shes 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 being able to do anything for herself any more, its just absolutely heartbreaking to watch. You feel like youre grieving from the very start because your childs disappearing almost in front of your eyes. If she was born like that, then, from the day she was born. We wouldve known what we were dealing with. But the fact that we had just a normal toddler and then, all of a sudden, weve just our worlds have been turned upside down with a terminal diagnosis thatsjust, you know, cant we dont really know what to say or what to think, really. Her body is basically, kind of, gradually shutting down. And she will lose her eyesight, she will lose most of her senses, so it will basically come to a point where theres nothing left for her to lose. And i wont 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, were 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. Itsjust the most horrific disease. Its 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 itsjust so cruel. Were on the cusp Of A Revolution in the treatment of Genetic Disorders. Its 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. Its 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. Were grateful for the life thatjoes been given and hes grateful 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 worlds most expensive medicine. At more than £2. 8 million, its 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, its 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 seven or eight 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. Were now offering a single administration, a once only administration, that could have a potentially curative effect for that child and so, its 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 Childrens Hospital is trialling similar treatments for two other rare Genetic Disorders with more conditions likely to follow. Oh, yeah. Im sorry. 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 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, joes older sister, wasnt diagnosed until she was five too late for treatment. She died last year at the age of 13. We really need to be looking at Newborn Screening. We can test for it, we can treat it. These children just dont need to be dying the most awful, horrific deaths that theyre being subjected to. Its just not its not fair. For the scott family, screening might have meant their daughter, paige, could have been treated. It would literally save childrens lives because as soon as we know about it, they can receive the treatment. But if its left too late and we cantjust 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 dont yet know how much time theyll have with nala whether its months or years. Singsong nala charlie shaw. One thing theyre certain of is wanting to ensure other families are spared what theyre going through. Its 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. I just want to get as much awareness out there as possible and i thinkif theres the more awareness we have and the more people pushing for it to be put on the blood spot test, then its a good place to start, isnt it . Years we spent not knowing what was wrong with nala. If there was more awareness about it, we couldve caught this earlier, and maybe we wouldnt be in this position. Hello. It was a very mild weekend and it looks as though monday is going to be every bit as mild, but how about the week overall . Heres the summary. That mild start monday and tuesday. Were expecting a cold front to reach us on wednesday, so there will be some rain midweek. And then, after that, its going to turn a little bit colder. So, heres the forecast, then, and starting with the satellite picture, you can see the clouds are still streaming in out of the south west, so a mild direction, hence those higher temperatures. And the weather map also shows isobars and plenty of them across northern scotland, and that means those strong winds will continue through early monday. So, the forecast, then, shows lots of cloud through the early hours but a few clear spells as well. Wet in Western Scotland and the Early Morning temperatures will be typically around double figures across the board, maybe a little fresher in the south where we will have had a few clear spells. So, lots of cloud first thing but clouds will break to give way to sunny spells, maybe to the east of the high ground around the midlands to the south. Temperatures could actually reach 16 degrees celsius in Eastern Parts of the country but where the clouds persist, more typically around 11 13 degrees. So, thats monday. How about tuesday . A Weather Front is approaching which will introduce, eventually, colder air but its still to the west of us were ahead of it and ahead of it, weve got that South Westerly Airstream and a lot of cloud around on tuesday, and the cloud will be thick i dont think therell be many sunny spells developing on tuesday. Temperatures still managing to reach around 11 13 degrees celsius. And then, a change happens on wednesday. A Cold Front Sweeps across the country and pushes the milder air towards the east, but its not desperately cold air in fact, were expecting the temperatures to return to the seasonal norm so, yes, its a northerly from a cold direction but its not all that cold. I think its going to feel colder because of the cloud and the rain and the stronger wind on the north sea, so the temperatures even as high as ten degrees in one or two spots and, yes, there is a chance of a few wintry showers but thats mostly across the scottish mountains. So midweek, yes, a mixed bag with outbreaks of rain. Heres the summary with the outlook. A mild start to the week. Rain midweek with that slightly colder air arriving. And then end of the week, it could actually improve once again. Bye bye. This is bbc news. Welcome if youre watching here in the uk or around the globe. Im rich preston. Our top stories a warning for beijing the us tells china not to sell russia weapons for its war in ukraine. 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