00:00Internationally if you put them together the numbers will be larger but actually in terms
00:05of devising a new treatment they will still be low often slightly below the the breakeven point
00:11a lot of the time for the companies. So there is no approved treatment but there are treatments
00:16that have previously been trialed that have proven to be incredibly effective but have run out of
00:22funding before they've reached the approval stage. They ran out of funding for one cure
00:27so they couldn't move forward and it just made it it scared me because there isn't a lot of like
00:34a
00:34lot of the children that are that have got b-pan or the young adults or whatever um that this
00:40cure is
00:41only from zero to 25 years old but anyone that is already in the second degree is classed as incurable
00:50so if when Bertie gets to the second degree he can't have that gene therapy because the gene therapy
00:54is to stop the second degree happening. Navigating mornings with multiple children can always be a
00:59challenge but add in the fact that one of those children has a rare disease and the sunrise brings
01:04a whole host of new battles. From the fear that the disease has progressed overnight to managing
01:09medications and campaigns fighting on can be difficult for the whole family. Emily has five
01:15children two have adhd and one has adhd and oppositional defiance disorder then there's four
01:22year old Arabella. Bertie who's five years old has b-pan which is a rare genetic disease that leaves his
01:29future uncertain it requires constant care and strength both physically and mentally. It's 7am bright
01:36and early here in Canterbury and Emily has invited me down to her house to see her morning routine with
01:42Bertie. She says the process can be quite a challenge as their home isn't accessible. Let's have a look.
01:52Bertie can't walk without support so his morning starts by waking up and carried down the stairs.
01:58Ideally we want to get like a bed that's really high but has like all the bits around it but
02:04we
02:04can't fit that in there at the moment so we're waiting at the moment for a full bedroom house from
02:09the council.
02:09Bertie can't walk without support so I can't wait to see her.
02:16As the days pass this becomes more and more of a challenge for Emily.
02:27Well that was a task wasn't it? Then on to breakfast.
02:34It's mad like um he had an EEG when he had his EEG um without medication he was having like
02:4160 to
02:4250 to 60 silent seizures that were going on in his brain but not physically. You're going to eat your
02:47pancake? Hello Bert clever boy clever boy. Yay hello Bertie boy. And he loves circles so playing with the plate
03:00is
03:00also a part of the routine. Like he'll pick the food up go to put it to his mouth and
03:04throw it up the floor
03:04or throw it back on the table because he can't help it. It's like um it's like he's got uncontrollable
03:10movements if that makes sense. So like sometimes I'll have to like just quickly try and get it in
03:15his mouth so then he can taste it and then he'll be like oh okay it's food time now so
03:20then he'll start eating.
03:26Like any other five-year-old Bertie loves playing with toys and watching cartoons but because his
03:32disease is so rare there's no treatment and as he gets older getting that treatment begins to feel
03:37more and more out of reach. Do you just want us to sing? You might want me to get him
03:57ready. After a break it
03:58was time for medication and teeth brushing. I loved him in the evening and underneath oh dear are you good?
04:10One more and then I'll do your teeth.
04:17Good boy good boy this is horrible this one
04:23yeah so he has to have um it's just been an hour Bella he has to have um two epileptic
04:30medications
04:30and one before he's dribbling
04:36but this topper mate is awful like I've accidentally tasted it before and it's just
04:40foul isn't it bubs right you're ready for your teeth because this is the absolute head
04:46good boy yeah yeah so then we get him dressed and I do his medication and that's a fight
04:52um that is really like because he he's been so strong now and where I'm only small
04:58like trying to hold him we will see but yeah he will try and fight me
05:02and then it's to get the all the other children ready so the other three because
05:07Bert even though Bert's got like complex needs um I've got four other children that all have needs as well
05:22I spoke to Emily Moore to find out what kind of support she gets and what she's been doing to
05:27help Bertie get long-term treatment during the interview we were surrounded by the children
05:31and you can tell just how busy she is at the moment I'm on TikTok so I've I've been since
05:37November last
05:37year I have gone to TikTok to try and raise awareness about b-pan because I didn't even know what
05:42b-pan was
05:43um and through that I've I've gained quite um I'm on like 60.3 thousand solids
05:51and um I through through TikTok I've like found so many medical mums um that are like
06:02that are going through the same thing so I've got I've got a mum that's got a child with childhood
06:06dementia and she's having to she missed human trials and she's now having to pay 1.5 to 3 million
06:13pounds for treatment Lenny is another child in Kent who has a rare disorder she has San
06:19Filippo syndrome also known as childhood dementia her mum Emily has also been campaigning and raising
06:24awareness almost reaching her target of 500 000 pounds for a treatment I think there's this whole
06:30world of rare diseases that exists that you don't know about until you're in it um and it is so
06:35unbelievably unfair and frustrating every day that goes by is a day too late and we just are in this
06:41constant state of worry that she's going to start regressing um and the fact that there doesn't seem
06:48really to be that urgency from anyone other than the families and I'm sure there are people that are
06:54working very hard behind the scenes to try and make these treatments happen but it's like this is
06:58a child's life um that depends on this treatment and there just doesn't seem to be that that drive from
07:05everyone else um and I don't feel like parents should have to fight for their child's life I feel like
07:11the system should support that um and kind of really accelerate these processes especially for for
07:17rapid neurodegenerative diseases in children like San Filippo and like BPAM um that need treatment
07:24as soon as possible like these these um conditions are very very quick once they start to
07:31to decline and we can't afford to wait because children are dying without treatment um and the
07:38treatments exist they're on the shelves and that's so as a parent the fact that a treatment is within
07:43touching distance but my child can't access that um and the fact that we have to raise all this
07:48awareness because no one's heard of San Filippo the fact that we have to raise all this money because
07:52the funding isn't there for rare diseases it's just it's so incredibly unfair why is it so much money
07:58um like for instance that Bertie's gene therapy um is called great ormond street as a whole for the
08:05projects just to get to human trials it's going to cost around 10 million pounds and then um action for
08:11BPAM they are targeted 2.3 million by may 2027 um and BPAM's not waiting for these children to get
08:21these funds
08:22do you know what i mean BPAM it's like we've lost we've lost i know darling you need to tell
08:28them
08:29yeah so why is it so expensive and so out of reach for these families with the rare diseases a
08:35lot of
08:35them uh you've only got a very small number of people who are affected so if you're a company devising
08:41a
08:41new treatment to get your money back you've got to charge an awful lot of money so they're not making
08:46excessive profits uh but they have this challenge you're developing a drug from scratch going through
08:52all the testing and the approval that they need and then passing out to a small number of people
08:57compare that with a very common disease there's a very easy way to get your money back and therefore
09:02the costs are much lower as these parents continue to call for systematic government reform for all rare
09:08disease patients the clock keeps ticking they have done everything they can for their children
09:13raising awareness on social media writing books and organizing fundraising events and sales but this
09:20is only the visible surface of a much wider community behind it are countless rare disease
09:24patients and families who may not have the platform resources or strength to make their voices heard
09:30for these families the hope is that no child's chance of treatment is determined by the number of
09:36people who share their condition kristen hawthorne for kmtv
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