It's now been six long months since Amy became ill with Down Syndrome Regression Disorder (DSRD) not that I knew it was that at first, I had never even heard of it, it's pretty rare. It started with her seeing and hearing people that weren’t there, saying they were trying to do bad things to her and often she was scared witless. She would shake could not eat or drink, could hardly speak just a whisper, often could not move, could not even go to the toilet. There is more but you get the idea I'm sure.
Went to the GP and he sent the mental heath team to see us, these are in two sections (not sure who or why) anyway first lot had no idea what was going on so said they could not help. Second was a mental health nurse called Sam and he was great, although he did not have a clue how to help he said he would try. A week or so later I had not heard back from anyone so contacted Sam's office and spoke with his manager Emma (he was away) while taking she came across information on DSRD, I googled it while we were still talking and Amy has all but one symptom (about 20). It was pretty clear this was what it was but being so unheard off even by doctors. I knew help was going to be hard to find. She gave Sam the details and he started looking into it. I read everything I could find, joined FB groups, contacted the Down Syndrome Association and went back to GP (who has been brilliant). Amy needed a Psychiatrist and a Neologist, she needed to go on anti psychotic meds and a CT scan also an MRI. She has had more blood tests than you can swing a cat at! Managed to get a CT scan after a few false starts, all OK. It has taken the best part of 5 months to get a psychiatrist (Dr Bradley) who actually knew what DSRD was. By then I had found a specialist at Cambridge University collage hospital a Dr Zaman who Dr Bradley had already had contact with, he has two patients with DSRD. So he came to see us and agreed most likely DSRD and proscribed meds BUT first Amy needed the MRI before she can start taking them. GP now with support from Dr Bradley at long last manage to get Amy into hospital as an emergency. First night Amy got very distressed so we went home for a couple of hours the next afternoon so she could see Sophie. On day three we got the 'emergency' MRI... it was fun! Amy had to be sedated as it takes a while to do the scan and she would not be able to stay still. So meds given and off to sleep went Amy, an hour or so later we head for the scanner, Amy wakes up. I get her back to sleep and repeat a few more times! In the end I get her back to sleep and scanning started, but when they added contrast she woke up again and would not go back to sleep so I said they would need to give her more sedation. They phone the ward who brings more sedative and eventually Amy is asleep again and they could finish the scan. Boy those machines are LOUD!!! Had earplugs but then I guess you are not meant to stand next to them for an hour??? Amy the slept for another 3 hours. Eventually I got her to wake up and eat a sandwich and a couple of drinks. Her blood pressure had dropped so we then had to wait for that to go back up. THEN, we could go home. Next step wait for the MRI (all clear) reports to go to GP and Dr Bradley so we can start medication. The meds will be a slow proses, could be many months to find to right level. Amy will never be cured but life might be liveable again for her one day? Through all this my Sophie has been with her, a massive help and support I honestly do not know what we would have done without her. I'm Amy's mum it's my job to be Amy's carer 24/7 but it's not Sophie's job to give up her life to care for her sister, but she has and not once has she complained about getting up in the night if she hears Amy before me. Not once has she hesitated at wiping her bum or going without because I need to be with Amy. My mum has been a great support too, the last few weeks sitting with Amy a couple of times a week if she is having a good afternoon so I can spend some time with Sophie. There is only the four of us so Amy's support bubble is pretty small.

Photo from Amy's birthday in Brighton Oct 2025