Fragile X Syndrome is the most common inherited form of intellectual, developmental and learning disability and autism. The genetic issue that causes Fragile X Syndrome lies on a single gene on the X chromosome. If this gene is fully mutated, the gene cannot fulfil its normal function any longer, and the protein it encodes cannot be produced anymore. The lack of the fragile X protein has various effects in different cells of the body, in particular in the brain cells, the neurons.
The name of the Fragile X gene/protein is Fragile X Messenger Ribonucleoprotein 1, abbreviated FMR1/FMRP.
Fragile X Syndrome is a rare condition, it occurs only in about 1:4000 males and about 1:6000 females.
It is believed that people with Fragile X Syndrome have a normal life expectancy. However, often due to reduced communication skills, one must be aware that the affected people might need help in recognising and reporting health problems, in particular, but not limited to, in adulthood.
No. There have been various attempts to influence the effects of the missing protein, but so far, no positive outcomes of significance have been found. Due to the complexity of the underlying alterations in the proteomics caused by Fragile X Syndrome, a pharmacological “cure” in its actual meaning is unlikely to be found.
Other theoretically thinkable interventions like the “gene-scissor” CRISPR/Cas suffer other fundamental barriers in application.
Some pharmacological treatments are available for the symptoms a person might experience (e.g. anxiety; ADHD; gastro-intestinal problems), none of them without side effects that one has to consider.
Short answer: Of course! It is almost certain that you will need help and support from your family. And it is important that they understand your child, and that it will have special needs.
Also, Fragile X is a family condition. This means that due to its inheritance pattern, it can occur in various branches of the family tree. So, it might be really important that other family members know that there is something that may have affected their children or be important for future generations and family planning.
Some members of the family may develop feelings of guilt, in the sense that they are responsible for forwarding a genetic condition to their offspring or grandchildren. Talk to them, tell them there is zero responsibility for forwarding a genetic condition. Zero.
Having said all of this, in some cases people choose to tell only selected family members and very few friends as they feel their child will be treated badly if the condition is known. Discrimination and stigmatisation can occur. Sometimes families prefer to explain that their child has mild learning difficulties, or needs support in some areas. FraXI is working against discrimination and stigmatisation, so that the world is much more accepting of people with Fragile X Syndrome.
This is a personal decision – some families choose not to tell their Fragile X Syndrome (FXS) child with severe intellectual disability as they would not understand and it might frighten them. However, other parents feel it is best for their child to grow up knowing they have something called Fragile X Syndrome. That it is a part of who they are.
Whether and when you choose to introduce the topic to your child is up to you. They might not ever fully understand the condition, but at least they have a reason for why they might struggle when seeing others around them (e.g. at school) do things more easily. Do talk this issue through with other families who have children with FXS, and seek support and advice from your country organisation.
It is often good for the child to share their condition with their classmates or in a school assembly. This can raise awareness of Fragile X Syndrome, create an understanding of the condition and lead to a more welcoming and inclusive environment at school. This sharing can be supported by a family member (parent or sibling) as appropriate. The important thing is to celebrate each person’s individuality and to promote inclusion and affirmation.
Parents of a child that has been diagnosed with Fragile X Syndrome (FXS) may want to have another child and ask themselves if their next child will also have FXS. As FXS is a genetic condition that is a possibility. The chance that the next child will also have Fragile X Syndrome is about 50:50.
It is possible to use medical interventions that are aimed at ensuring a future child does not have FXS. This is an ethically problematic topic and can be culturally sensitive. Some parents may feel that avoiding a second child with FXS indicates that they also do not really accept their first child. Other parents may prefer to avoid a future child having FXS, much as they love their affected child. It is best to seek advice from your doctor or a genetic counsellor, as the issues are complex and personal.
We list some research opportunities on our website. Also, your national Fragile X association will be contacted by researchers who want to do research about Fragile X. Your association would then do some checks to see if safety and ethical requirements are fulfilled. Provided everything looks in order, they would pass the information on to the association’s members. If you get directly contacted by research institutions, you need to make sure yourself that everything is fine.
Particularly in clinical trials involving new medication candidates, families should be especially careful, as there are several risks involved. Questions like “Have I really understood what is given to my child?”, “Do I really know the possible side effects?”, “Do I really think my child is willing to take part in the trial?” are of great importance and should honestly be considered and answered. In particular, the last question is far from easy to answer, as most people with Fragile X can’t give consent to participate in a medical trial on their own.
Please consult with your paediatrician or general practitioner, or whoever medical professional is responsible and would prescribe the desired medication. Make sure they and, in particular, you have completely understood what kind of side effects may occur. Plus, it needs to be kept in mind that people with Fragile X Syndrome may not be able to report medical problems properly. So the time it takes until the caring persons realises there is a problem that occurred with a medication can be longer than usual, and may have gotten more severe until then. In all cases, medical professionals must be involved when considering a pharmaceutical intervention for a person with Fragile X Syndrome, and there must be constant supervision.
