This is
Eve's Story

Eve was 20, a fun loving girl, a social butterfly, her social skills had helped her through her school years, Eve just happens to have Down syndrome. School ended abruptly in 2020 with Covid, but Eve seemed quite content to stay at home and do her own thing.

 

 

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We noticed that she was starting to talk to herself a little more than usual, but we just put it down to the social isolation that Covid had imposed on her. We had also moved to a new home in a new county and shortly after that I noticed that Eve was going downhill. Her self-talk was increasing, but taking on a new dimension, with several people in her ramblings, with Eve playing all the parts. This self-talk escalated into nonstop chatter, with a lot of anger and arguing with people, in her imagination, or being very sad and bursting into inconsolable tears. 

 

Eve had always been socially appropriate but now she would fly into rages if we went shopping or to a cafe, it soon became impossible to take her anywhere.  Her sleep pattern changed overnight, one night she simply did not go to sleep, she talked non-stop through the night and fell asleep around 7am the next morning and for the next few months her sleep pattern changed from day to night, but she would often be awake for up to 48 hours talking non-stop. 

 

During this time Eve began to slow down in everything she did, all her movements, she seemed to freeze and sometimes be unable to move. Walking anywhere took forever and she soon took to her bed and did not move from it for months. She did not seem to have the appropriate response to get to the toilet on time and there were daily toilet accidents and many bed wetting incidents. During this time, her face seemed to lose all expression, she had a blank look about her and the humorous girl who loved to joke and laugh was gone. She lost a lot of weight as she lost interest in eating and drinking and became very thin, her hair fell out and her skin was in very bad condition. 

 

Eve also developed various tics and self-harming behaviours, she had many injuries from banging her head, biting herself, trying to gouge out her eyes and squeezing her throat in a vice-like grip. When Eve was really angry I became a target and that was really hard, nobody wants to be hit or hurt. I cannot put into words how horribly distressing it was for me as her mother to see all this happening to Eve.

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In October 2021 we had a routine visit to Eve's neurologist, this was a follow up after a stroke in 2017, she was very concerned about the changes she could see in Eve. Eve was asked to walk across the room but after a few steps she seemed to forget what she was supposed to do, her mind could not concentrate on this simple task. 

 

Eve was admitted to hospital for extensive tests, she had an MRI, lumbar puncture and blood tests for a huge range of conditions. All her tests came back clear, they had no answers or explanation for her condition. Eve was referred to psychiatry, they too could not give a definitive reason or diagnose her with any psychiatric condition, but they prescribed anti psychotics to try and control her symptoms. Eve was incredibly sensitive to these drugs and the side effects were terrible, none of the usual drugs worked for her.

 

We had to look further afield for answers, determined to understand what was happening to our beautiful girl. The one name that stood out was Dr J Santoro, he was at the Children's Hospital in Los Angeles. He had written some papers on this strange condition that happens to young adults with Down syndrome, typically in their late teens or early twenties, but also to younger children. He was incredibly sympathetic to how this condition was undiagnosed or misdiagnosed as early onset dementia and how difficult it was for families or carers to find a doctor who understood this condition. 

 

I contacted Dr J Santoro and he was very generous in helping us and willing to advise Eve's GP on any aspect. I sent him Eve's hospital records in L.A., videos of Eve before and after she developed this condition. Dr Santoro was certain that Eve had Down syndrome regression disorder (DSRD), which is an autoimmune disease. He and a small group of other doctors were using intravenous immunoglobulin (IVIG) infusions to treat patients in the US with some success, but he was also planning to start treatment trials in the near future, which would be of great interest to everyone concerned. 

 

It was also at this time that I was advised to contact Dr Colin Doherty at St James Hospital, he had become the default man to see in our situation. Eve was the fifth person to present to him with what I now know to be DSRD. Dr Doherty had also diagnosed catatonia and knew the challenges of treating this condition in Ireland, but it was so good to speak to an Irish doctor who understood what we were going through. Treatment consisted initially of high doses of Ativan, a benzodiazepine, and then electroconvulsive therapy (ECT), which for many reasons was impossible for Eve to access.

 

The last few years have been very difficult, in fact it has been a living nightmare, every day is a challenge, the Eve we knew was gone and we just wanted her back. This disease affects the whole family, everyone feels helpless and the worry never ends. Getting help for Eve seemed so out of reach, only Dr Colin Doherty knew what was happening to Eve, the rest of the medical world dismissed us and we were left to fend for ourselves. Our GP was very sympathetic, he did everything he could to help and his support was my only lifeline at times. We also connected with MHID (Mental Health Services for Adults with Intellectual Disabilities) in the HSE, they monitored the medication and were at the end of the phone when I needed them.

 

The most difficult aspect is dealing with the constant shouting, screaming and anger. It is really exhausting and challenging to keep your own sanity. There is no quick fix for this condition, you just try to manage the symptoms. Ativan has not worked as well for Eve as it has for others, but overall she has made some improvements and we are eagerly awaiting the results of ongoing treatment trials in the USA.