Table 3 Caregiver narratives of observations following participation in the idursulfase-IT trial
Narrative | Patient age at trial entry/time of interview, years |
|---|---|
Verbal | |
He would say ‘vizza,’ and all of a sudden it became ‘pizza.’ And then ‘nanna’ became ‘Hannah’ just after that first dose. It was amazing. I was like ‘Seriously?’ [laughter] I haven’t seen drastic changes on a month-to-month, but I do see that he’s still learning. But after just that first dose, I was convinced | NA/8 |
His speech, 2 weeks after his first dose, he said the word—and I have the video—'dinosaur.’ Clear as day. Clear as day as he was playing with his dinosaurs on the couch. Clear as day. I still, it brings me to tears. [crying] [My son] can speak words. He can say the full word | 3/7 |
He just started exploding, like 6Â months into the study, he just started exploding into words. And he started picking up words, and then it just progressed from there. Then he got two-word sentences. Then he got three-word sentences. Then he got four-word sentences | 4/7 |
Improvements in [my child] … since starting the study, he comprehends everything | 7/12 |
Non-verbal | |
The first thing is that he is doing very well in school. He is more interested in mathematics than in writing or reading | NA/9 |
He understands more of, you know, cause and effect | 4/9 |
The other thing we noticed is that in terms of connection, there was something where we were in the car and he could say like ‘green light.’ He would always say when the light turned green, ‘green light, green light.’ This was before IT. After IT, just spontaneously, you know, and this was only a couple of treatments in, maybe 10 treatments, in he goes, ‘Mommy, that’s a green arrow. We go left.’ He was making brain connections. He was putting two things together that I had never seen him put together | 4/6 |
He knows boundaries, so we’ll tell him, ‘Okay you got 5 min, and then, you got to go to bed’ or ‘You got 5 min and then, you got to turn the TV off.’ And he actually understands that. He understands the concept of time | NA/4 |
Spatial | |
He’s counting by 10 | 2/5a |
But now, like I can sit him down. I’ll explain and ‘if/then,’ and he might argue with me or it might take a while, but like he gets around to it, and he understands the ‘if/then’ scenario, and he can make a choice based on that. So, there’s a lot of reasoning and a lot of just, I don’t know, like … the fog being cleared, if that makes any sense | 3/7 |
When the doctor says, ‘Open up,’ he’ll say ‘sayahh.’ | 3/7 |
And he knows when he went in the hotel, he knows what room. He don’t have to read, but he remembers which direction, go left or right | 4/6 |
His ability to [connect] concepts like ‘That shirt goes on my head. Put the shirt on my head.’ [Or] ‘People are married. They get married and [have] kids.’ | 4/7 |
If you took apart a motor, he could probably help you put it back together … he’s got that, almost like a photographic memory when it comes to those things | 4/8 |
Daily living skills | |
The first thing that happened that we were shocked by was that he potty trained. He wasn’t potty trained before or, you know, like he just didn’t pay attention, wasn’t, you know, could not put two and two together. And it was a few months after a few doses, it’s like something just clicked | 3/7 |
He can help put his shirts on more. He can pull off his pants. He can pull up his pants if I put his feet in his pants. He can take his own socks off … Certain shoes he can put on. Same with when he’s bathing. He will put soap on and he tries … He knows to use a toothbrush to run the bristles along his teeth … So, there’s lots of skills that he’s gained due to being on the trial | 3/7 |
He, I mean, he’ll completely dress himself. Which, I mean, I knew he’d be [inaudible]. He did before. But now it’s shoes and socks and I can just, basically I can hand him the clothes and say, ‘Okay, it’s time to get dressed for school,’ and he’ll put them on without me having to go in there and like prompt him to do things | 4/9 |
Socialization | |
The aggressiveness has decreased a lot, and about hyperactiveness, well, I will take him to [the] park nearby, and he will play there as a normal kid | NA/9 |
Social. I’d say very caring of his other classmates. He’s very cognizant of other people’s situation[s]. Yeah. I mean, he’s, yeah, he’s lovely, and everyone is in love with him | 3/7 |
He’s a very social little boy. He likes to take people’s hands and show them things and tries his best to communicate as best as he can. Completely engages. And appropriately too | 3/7 |
Now, he taps friends on the shoulder, and he says, ‘Can I play with you?’ Now, he might still be or he might come and tap them and say, ‘Let’s play duck-duck-goose.’ Now he still has a problem if the person says no. He might repeat, ‘Let’s play duck-duck-goose.’ But he’s socially much more appropriate. He can engage in a board game like Candy Land | 4/6 |
Motor skills | |
I mean the two big things that we noticed after only a couple of doses was that he was a lot more able to do things. Climbing, like he never climbed up on anything to the extent that he does now anyways. Like, he can get up on a chair maybe, but he’s able to climb up on things. He’s a lot faster when he [runs] | 2/5a |
We turned around and in terms of eye-hand coordination; yeah, he was off the chart on the scoreboard | 3/7 |
Family life | |
We were taking vacations solo. [My husband] would go, and then I would go or whatnot, and uh … last year, we actually went as a family and it was an amazing vacation. Like I was surprised. I was actually dreading going on this vacation because I just wasn’t sure how it would go because [my husband] and I had avoided it for so many years | 4/10 |
I think the biggest thing for us was going from where we were functioning, you know, we were just coping … Our family as a whole, we’re able to function much, much better. Much more peace, much more happy, the quality of our family’s life and our ability to care for not just [our child with Hunter syndrome], but all of our children was so much better | 5/9 |
Taking him to the grocery store and actually going shopping with him. If we have a list, then we go over, then we get things on the list. You’re going to walk by my side. And so just that alone is huge. So, bringing him more into the community where he can act appropriately in some other social settings | NA/8 |
You can plan activities. You can, like you can socialize more with other families. Everything’s just a little bit brighter. His behavior has improved to the point that it is more socially acceptable than it was. And so people are more tolerant of him. And so it’s not nearly as isolating as it was | 7/11 |