Mila's Story

[Music] run meal around when Mila was born she was so outgoing always always on the move gomila whoo-hoo she was always very fearless even as a baby before she could even walk she would climb up the furniture she would climb all over the place [Music] she was very verbal she could speak over a hundred words before two years old she was doing all the things that other kids in Colorado we Lou were doing then starting around three years old I started noticing there was just some subtle things that started to be a little bit off we had her checked and we're told that that was normal and she would outgrow it and then at five she started tripping a lot and I remember someone calling her clumsy and I thought this is not a clumsy kid you get back up just before her sixth birthday is when it was obvious that this was very very serious and progressive okay she went from speaking perfectly to having fragments of a sentence and then eventually she lost her last word which was mommy she lost her vision completely at that time she stopped walking that's when she stopped being independent in any way they diagnosed her with batten disease and pretty much every doctor that I spoke with said make the most of your time with Mila because there really is no hope right now I no longer dreamed about Mila growing up and about her getting married and her going to college or having a job it was too painful for me [Music] the standard of diagnosis is genetic it's a recessive genetic disease and do a patent panel of tests to identify what gene is defective unfortunately Milla's mutation is so rare that they were unable to find it and therefore we were not able to test our son for the same thing because one of the two mutations was hidden so at that point we were I think at the end of the options for what is commercially available today and my wife started looking for somebody who would be interested on a research basis to dig deeper one day two January's ago my wife turned to me and said hey Tim would you look at this post on Facebook this might be something that you'd be interested in they described that there was a young girl in Boulder Colorado who had just been diagnosed with the terrible disease that the doctors couldn't find the mutation and that they needed to find someone who could do whole genome sequencing to help them discover what was wrong he reached out to me the next day and it's where our road turned and took the path to where we are today most clinical labs focus on just one percent of the genome and the 99 percent that's left over is like the dark matter of the genome our lab is a particular interest in them so that's where we thought we can help he called my husband and I and said we have found the mutation it's something that's extremely unusual and then you took it one step further and said and we have an idea of how we might be able to help Milla it's not standard gene therapy it's a genetic therapy this hasn't been done before but we think it might be worth a shot it's something called oligonucleotide therapy that would be targeted just to help Neela and just her specific mutation when dr. you came up with the idea of this new treatment he explained that you have to have two mutations in order to have symptoms you have to have your father's and your mother's so the idea was if they could hide and cloak my mutation that Milla's cells could potentially restore function it was the best hope that we could ever have imagined the science was almost the easy part figuring out actually how we were going to execute and what our chance of success was that was the tricky part we would have to manufacture the drug we would have to formulate the drug for patient administration we'd have to get the FDA to allow us to investigate its use in a patient I'll be honest there's a lot of skepticism and there was even concern we're trying to do a novel therapy untested in a young child but after talking through all of the concerns our team really decided that this was worth doing and I think only in a place like you know Boston Children's would it have been possible to take some of them difficult to quantify risks going forward it was a gradual building of momentum going from zero slowly moving through all these steps until last December doctor you had enough science to convince the FDA and to show that it might work so finally a year later after her diagnosis and meal I was gonna actually have some hope [Music] about two hours into her going under anesthesia for her first dose I think it hit me Milla has this drug made for her that could stop her disease and this could be the beginning of a big wave and she's the first it was pretty amazing [Music] the first five months have been a great success because she's tolerated the treatment so well and they're really really promising science that this medication may be slowing or delaying the natural course of her disease we're watching her seizure count which has come down considerably since we started the treatment and parents are reporting lots of positive signs but these are tricky diseases so we're not out of the woods yet I don't know if Mila is going to be the child that everyone remembers as the one who started this road down customized genetic medicine but right now today I tried to be very cautiously optimistic Mila has good days and she has bad days she has good weeks and bad weeks but overall I've seen more good days I've seen better good days now that the technology exists and now that Milla's treatment has proven that this is possible we really want to continue to pave this road that will allow other children the chance to have an individual genetic therapy the key idea is that we're devising a system where we might be able to approach patients and develop drugs for the one patient at a time this path that we've opened up this is important enough that we need to continue to explore for other kids [Music] you

Channel: Boston Children's Hospital

Views: 461,151

Rating: 4.8959265 out of 5

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Id: w9zoBu6OvZs

Length: 9min 3sec (543 seconds)

Published: Thu Oct 10 2019