The drug trials finding a cure for Fragile X syndrome neuro disorder - the possibility of changing things for our disability children ...
Recently I met two people who had put their family member on a medical cannabidiol prescription (no THC not for a high in this cannabis drug) to help their child or family member’s brain impairments or behaviours. One was a man whose wife had dementia and could not speak but he said on this she suddenly changed and had energy he said you should try your son on this. My son has too much energy I laughed. His wife was a lovely woman and smiled at me as I talked to him. I met another mother with her son at the beach when I was out with James and my daughter, and she said her son was James age and non verbal and autistic but had recently had a prescription for him of cannabidiol and she saw his changes in behaviour for good that he had improved. Note it has to be the right prescription and not contain the THC I wouldn’t take risks with the internet. This is important. My son has fragile x syndrome and there has been a lot of research looking for a cure this is a new one that is being developed used – Cannabidiol.
I had seen the research on cannabidiol and Fragile X persons, but decided that if it was just for anxiety I wouldn’t pursue it as although my son does have those symptoms they can be alleviated other ways and I didn’t like the sound of a drug that you see people take as recreational activity. You could say I was biased as trained in psychology and meeting a lot of people whose lives were destroyed by drugs I didn’t want anything addictive for my son. But this is different.
There is a chemical lacking in the brain of those with fragile x especially severely affected like my son who is non verbal – the gene for their development ability has been silenced by the Fragile X fmr1 gene so that fragile x is caused by the deficiency or absence of of FMRP that brings brain development. Their development is silenced their speech is silenced is the way I now think of it – it has stopped James from being able to express in speech – I do not want him silenced I want him to be able to speak if it was possible. Perhaps a miracle. When James was first diagnosed at three years old the therapist said he would never walk of talk, my daughters said we will make him walk. One daughter dreamed James spoke after running into my room. I still am waiting for that. They did get him to walk and defy the therapists who seemed to revel in James lacks of ability - I am hoping one day he will talk. I want to help him in any way I can.
Now after meeting those people who saw good things, when I looked at the more recent research to my surprise it showed that some of those including very young children and then young adults who had Fragile x like my son (which is cognitive impairment and in James case he is nonverbal) had actually on this Cannabidiol started to develop in their brain and in speech. Now I am interested.
A study done in 2022 in Australia in three sites of research and New Zealand in one site, and 16 research sites in America called CONNECT-FX (2022 ) with a total of 212 Patients aged between 3 years to 18 years with 79% of the patients of severe Fragile X like my son so that almost no FMRP is being developed saw that the most significant good results were those who were most severely affected who were given a gel on their skin containing cannabidiol with no THC in a thermal gel for 12 weeks. There was also a placebo group to compare against. This was the single largest double-blind, randomized, placebo-controlled trial performed in Fragile X Syndrome.
With the FRMP deficiency it was noted in other studies (Tartaglia et al 2019) on fragile x and cannabidiol, this deficiency leads to substantial intellectual deficits and another (Maertens et al 2022) may also disrupt the balance of the endocannabinoid system. This system may be able to be replaced stepped into by the cannabidiol medication. Hence the calming and regulating effect however also a developmental effect. .
Noted in this recent trial with Cannabidiol the ZYN002 was well tolerated in patients and had its most significant impacts on those who were most severely affected by Fragile x. Again this is Zynerba so cannot be relied on as a drug company promoting itself. Parents saw significant changes in their children and young people who had fragile x in this trial who were on the cannabidiol compared to those on placebo, the changes included social interactions, irritable/disruptive behaviour, and overall behaviour. Parents said they were either, a little better, moderately better, or much better. Problem behaviours seen in fragile x children can be aggression, irritability, temper tantrums, hyperactivity attention deficits, shyness and preference for solitary activities. Again however this is dealing with behaviours with drugs and is not always the right path to go. What we need is to see if they are having important development in their cognition to help them with communication and intellectual development since they have delay.
Apart from these behaviours is the issue of speech and brain development which is very urgent to help our fragile x kids. In the study by Tartaglia et al (2019) just three individuals were trialled, one of who was a 3 year 6 month old pre-schooler. In this case the parents got CBD paste and combined it with coconut oil and administered it to their child orally. They noticed behavioural improvements in the first month (he was 15 months old when they started him on CBD) and then at 16 months old he started speech and language therapy and occupational therapy. This little boy was severely affected by Fragile X. However, on the CBD parents saw improvements in his motor coordination, more frequent vocalizations, less rocking and kicking, and more frequent and longer eye contact, and an increase in positive interactions with other children. Subsequent follow up visits at 21 and 27 months showed continued improvement in language and developmental skills, starting walking and self-feeding independently, more frequent and varied vocalizations and fewer repetitive and motor behaviours, and fewer sensory sensitivities. When the cannabidiol was ceased there was increased anxiety and frequent meltdowns and difficulties with sleep.
The second case study patient was 26 years old who was severely affected by fragile x after the first week of treatment with CBD had anxiety reduced and was able to explore and participate in more activities with less social avoidance. His facility with language increase and was able to engage in longer meaningful conversations. His symptoms of anxiety and linguistic skills continued to improved over the 6 week course of treatment with the CBD solution taken orally. To see someone’s language increase is an incredible effect from this medication which is obviously helping the person brain develop.
Similarly for the third person in this study was a high functioning female with fragile x who found the cannabidiol relieved symptoms of anxiety. (Tartaglia et al 2019)
Basically, there were improvements on CBD for the three participants in sleep, feeding, motor co-ordination, language skills, anxiety and sensory processing. When it was ceased being taken by two of them the symptoms of FXS came back and when they went back on the Cannabidiol they improved again. Including the very young child.
Another unbiased study was held in 2023 involving again Australia – the University of Sydney, Sydney Children’s Hospital Network and Kids research Sydney, Telethon Kids Institute, Perth Chidlren’s hospital and the Department of General Pediatrics health services, Murdoch childen’s research institute, and Royal Children’s hospital, also the University of Melbourne, department of Paediatrics. This study covered research in Cannabinoids in neurodevelopmental and neuropsychiatric disorders among children and adolescents.
Not only looking at Fragile X Syndrome but also other disorders such as Autism spectrum disorder, ADHD, Intellectual disability, Anxiety disorders, and PTSD. Funded by outside institutions such as CAUL, Westpac Research Fellowship and Australian Medical Research Futures Fund naming some of them. I will write further on these in future.
In the case of Fragile X syndrome this study looked at all the studies that had been carried out using Cannabinoids reporting they saw significant reduction in anxiety. However, I would like to see more of the development in speech and cognition to occur as it did in one of the studies with two of the people involved. It would be nothing short of a miracle to see our children who cannot speak be able to speak and communicate we do not want them to be silenced nor their voices – since we are the voice of our children as parents we must continue to fight for them and find whatever can help them not listening to drug companies alone who are in it for the money, instead we are making our own informed decisions. We are in it for our children always and their best interests and future health means everything to us, these trials are for hope for possible change and we all need hope for our disability children.
One of the studies noted the cost of the medication (which is also not under medicare in Australia) was challenging or expensive for some, I have heard it is $200 plus for the medication, and parents in the study reported the cost as unreasonable. "Therefore CBD may currently be more accessible to families with higher incomes" You mean only the rich can help their children? That seems almost like a discrimination - as ,medications should be accessible to all those who need them. It was also noted that caregivers generally reported that CBD made a significant and positive difference to individuals symptoms (Maertens et al 2022) There shall be accessibility to all for to have this medication for their disability child regardless of income and all children should have the chance of a cure when it is found.
All the best
Anndrea x
Sign my petition for cctv in disabilities to stop the harm to those who are non verbal I am sick of this being allowed to happen to especially no verbal children in disabilities attacked by carers, with no repercussions for providers and the usual comment by police and judges ‘ lack of evidence’ lets then get some evidence: change.org/disabilitycameras
Additional Note:
There is a lot going on with children and disorders and giving them drugs to help them. I am not keen on any psychotropic drugs for children or young people and I was always hesitant with the whole Ritalin for kids with ADHD. When I was studying my psychology degrees there were those who knew ADHD was being over-diagnosed and so was the Ritalin being prescribed – even a normal kids behaves better on Ritalin. We know drug companies are out for the money and this is what drives them, and drives psychiatrists and doctors also who are often lured to be paid for promotion of drugs from drug companies. So little ethics are being practiced.
However, my son has a neuro disorder which silences his gene for his brain development and the Fragile X societies particularly in Toronto Canada are searching for a cure going to all the universities and even here in Australia trials have been held. I was very pleased to see a study done in Australia, New Zealand and America for the possibility of helping fragile x not only behaviours but brain development in children and adults by replacing what is missing in chemicals or deficit. Its too easy to look to drugs for behaviour modification in children and that should not be done so much as has been happening in the past. Yet if a drug can help a child with their development and communication without harming them – this is a good thing.
Having said that the study on Cannabidiol done using ZYN002 a transdermal gel with children and adolescents with fragile x with 212 participants, a large study still has a question mark for me since the people all involved in this are funded by the drug company Zynerba, and if people are funded by a drug company they will often say what the drug company wants them to say. Therefore ,that study in itself is questionable and there should be an independent study outside Zynerba that checks the affects of this Cannabidiol gel even though they saw positive results its not enough. Four of the authors of the research article received funding from Zynerba and are also on the scientific advisory board for fragile x syndrome for Zynerba Pharmaceuticals. Four others also received funding for being investigators on the study. Two authors were paid consultants for Zynerba Three others were paid consultants for Zynerba, and the last was an employee of Zynerba Pharmaceuticals! It’s a lot of money and money plays a big part here. Yes, we need studies and to find answers for those with fragile X but do not rely on or trust necessarily a study founded by the drug company itself paying everyone involved openly showing their conflicts of interest.