Our experience refutes the misconception that LFS could not be diagnosed pre-2008. Our advocacy highlights the importance of leveraging available genetic technologies responsibly and equitably. While challenges in implementation persist, his story reinforces the need for continuous advancement in genetic medicine and ethical frameworks to protect future generations.
“It is claimed that the LFS gene could not be detected in 2008. This is absolutely untrue. Our family already received test results confirming this in 2001. In other words, sperm donors could have been screened for this gene.
— Tom van der Wal (survivor of four cancer diagnoses between 1998 and 2025, (advocate for genetic testing and patient rights)”
Early Detection: Increases the chances of identifying cancer at an early, more treatable stage.
Preventive Measures: Allows for proactive steps, such as lifestyle changes or preventive surgeries, to reduce risk.
Better Outcomes: Early intervention often leads to more effective treatment and improved survival rates.
Peace of Mind: Regular monitoring can reduce anxiety by providing reassurance or timely action.
Personalized Care: Enables tailored screening and treatment plans based on individual risk factors.
Family Awareness: Helps identify risks for other family members, promoting early screening for them as well.
Regular check-ups are crucial for managing hereditary cancer risks effectively.
The diagnosis of Li-Fraumeni/Li-Fraumeni-like is too serious to ignore. Yet, only 40% ultimately choose to get tested. Certainly, there are many reasons why people don’t—partly due to a lack of understanding, partly because potential carriers prefer to turn a blind eye. But Li-Fraumeni also affects the future of our children and grandchildren. Experience shows that those who eventually get tested fare better. And it’s not just them—this also applies to future generations. I would say… Do it!
Talking about it helps!
Most ‘Familial Tumor Clinics’ and ‘Clinical Genetics Centers’ have a psychologist or social worker who is well-informed about Li-Fraumeni Syndrome. By talking with them, many things become clearer. Don’t wait too long to seek help, especially if it’s negatively affecting your life. Truly, talking helps.
Li-Fraumeni Families Forum
Visit our Li-Fraumeni Syndrome Forum or our general Forum. It’s highly recommended if you want to join the conversation, share answers, or ask questions.
If Li-Fraumeni is diagnosed in your partner, it might be a lot to take in at first. It’s important to talk about it with experts and those who have experience with it. This could be a clinical geneticist, social worker, or psychologist.
Try to find someone familiar with Li-Fraumeni Syndrome. They can explain it better and help you positively navigate everything. The future doesn’t have to be bleak—screening is key.
You can’t avoid Li-Fraumeni syndrome (LFS) if you’ve inherited the mutated TP53 gene. The mutation is present in your DNA from birth. However, you can take steps to reduce your risk of developing cancers associated with LFS:
Regular medical screenings: Frequent checkups and specific cancer screenings (e.g., MRIs, mammograms, colonoscopies) are crucial for early detection. The earlier a cancer is found, the better the chances of successful treatment. Your doctor or a genetic counselor can help you create a personalized screening plan.
Healthy lifestyle choices: While not a guarantee of preventing cancer, maintaining a healthy lifestyle can help. This includes:
Diet: Eating a balanced diet rich in fruits, vegetables, and whole grains.
Exercise: Regular physical activity.
Sun protection: Limiting sun exposure and using sunscreen.
Avoidance of tobacco: Not smoking or using tobacco products.
Limiting alcohol consumption: Reducing or avoiding alcohol.
Genetic counseling: If you know you carry the LFS mutation, genetic counseling is vital. A counselor can help you understand your risks, make informed decisions about screenings and lifestyle choices, and discuss options for family planning.
Prophylactic surgeries: In some cases, a doctor may recommend prophylactic (preventative) surgery to remove organs at high risk of developing cancer. This is a very personal decision with its own risks and benefits that need careful discussion with a medical professional.
It’s important to understand that even with these precautions, individuals with LFS have a significantly increased risk of developing cancer compared to the general population. The focus is on early detection and treatment to improve outcomes.
This is only possible if you or your partner is a carrier of the Li-Fraumeni Syndrome. Until 2018, testing only took place when a child reached adulthood or requested it themselves. Now, it’s known from birth.
If a parent only learns they are a carrier, the advice will be to also have their children tested for Li-Fraumeni syndrome. If they are also affected, screening will be available to them as well.
No, it’s not possible to prevent your child from becoming a carrier of a genetic mutation associated with Li-Fraumeni syndrome (LFS) if you or your partner is a carrier. The mutation is in your genes and is passed on during conception. There is no way to control or change this.
You can consider prenatal diagnosis if you know you have an increased risk of having a child with LFS. This can be done, for example, through preimplantation genetic diagnosis (PGD) or amniocentesis.
However, even with these techniques, there is no guarantee that a child will not be a carrier, and the procedures themselves also carry risks.
Most importantly, it’s crucial to be well-informed about the genetic risks and the possibilities for prenatal diagnosis and family counselling. Discuss this with a geneticist or clinical geneticist. They can give you the best advice based on your specific situation.
Li-Fraumeni syndrome (LFS) presents significant challenges for parents who want children, due to the high risk of cancer passed down through a germline mutation in the TP53 gene. Options need to carefully balance the desire for biological children with the risks involved. These options include: 1. Preimplantation Genetic Testing (PGT): This is currently the most effective method to reduce the risk of passing on the LFS mutation. PGT involves:
In Vitro Fertilization (IVF): Eggs are retrieved and fertilized in a lab.
Embryo Biopsy: A small number of cells are removed from each embryo.
Genetic Testing: The cells are tested for the TP53 mutation.
Embryo Selection: Only embryos without the mutation are implanted.
PGT significantly reduces the risk of having a child with LFS, but it’s an expensive and invasive procedure with no guarantee of success. Some embryos may be unsuitable for transfer or may not implant. 2. Adoption or Fostering: This is a viable alternative that eliminates the genetic risk entirely. Adoption and fostering offer the opportunity to raise children and build a family without the associated health concerns of LFS. 3. Sperm or Egg Donation: This option allows a parent with LFS to have a child without passing on the mutated gene. The healthy gamete from a donor eliminates the risk of inheriting LFS. 4. Pre-implantation genetic diagnosis (PGD): Very similar to PGT, PGD is a specific type of genetic testing used during IVF to screen embryos for genetic disorders, including LFS. 5. Careful Monitoring and Early Intervention: Even if a child inherits the LFS mutation, proactive and frequent health screenings can detect cancers early, significantly improving treatment outcomes and survival rates. This is crucial, but doesn’t eliminate the risk. Important Considerations:
Genetic Counseling: This is essential before making any decisions. A genetic counselor can explain the risks and benefits of each option, helping parents make informed choices based on their individual circumstances and values.
Emotional Well-being: The decision-making process can be emotionally challenging. Support from family, friends, and mental health professionals is crucial.
Financial Implications: IVF, PGT, and other assisted reproductive technologies can be very expensive.
There is no “right” answer, and the best option depends on the individual couple’s circumstances, values, and risk tolerance. Thorough genetic counseling is paramount in guiding this critical decision.
Scientists in the field of DNA research and ethics believe that the final decision should always lie with the parents.
These same scientists also emphasize the importance of educating young people who want to have children about the pros and cons. This way, they can make a well-informed decision
“If you choose prenatal diagnostics, it is generally expected that you will act on the results. In other words, this could lead to the termination of the pregnancy (abortion) if the child is found to be genetically affected.
With preimplantation genetic diagnosis (PGD), only embryos that are not affected are used. Otherwise, the (costly) treatment would be of little use. Therefore, it’s important to think this through carefully beforehand and discuss it with your treating physician, clinical geneticist (and your partner).”
Don’t feel pressured to share this immediately, but it’s something you’ll need to discuss eventually. Understanding your partner’s perspective is key, particularly regarding future family plans. Many couples successfully navigate similar situations.
You’re right that this is a complex dilemma, the outcome of which heavily depends on personal circumstances, values, and the relationship with your partner. Li-Fraumeni syndrome (LFS) is a rare hereditary condition that significantly increases the risk of various types of cancer. It’s understandable that this raises many questions and uncertainties, especially when it comes to life choices, relationships, and family planning.
Here are a few considerations that may help navigate this situation:
Ultimately, it’s important to make decisions that align with your values, relationship, and life circumstances. It’s a personal choice with no one-size-fits-all answer, but by working together and communicating openly, you can find a path that works for you.
Motivate him to get tested, so you’ll know where you stand. You might spend years living with doubts, while your partner may not be a carrier. Note: if you have children and your partner is not a carrier, then your children are also not affected! In our view, this is an important consideration. If your partner is a carrier, they deserve all the support. And it’s available. For you too!
Motivate him to get tested, so you’ll know where you stand. You might spend years living with doubts, while your partner may not be a carrier. Note: if you have children and your partner is not a carrier, then your children are also not affected! In our view, this is an important consideration. If your partner is a carrier, they deserve all the support. And it’s available. For you too!”
Having children is the desire of two people, so your partner as well. You both must stand behind this decision. Keeping it hidden can cause problems later. Involve your partner and work together to find the right information and guidance. And importantly, make a decision that you both agree on
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“Li-Fraumeni is an error in the DNA, specifically in the P53 gene. This gene is a tumour-suppressing gene. When this gene is faulty, it increases the likelihood of harmful cancer cells developing.
Li-Fraumeni was discovered by two doctors, Dr. Li and Dr. Fraumeni, which is where the name Li-Fraumeni comes from.”
“First, there needs to be a suspicion of Li-Fraumeni in the family. However, you could also be the first (index) patient in whom Li-Fraumeni is discovered. If there is a suspicion, you can make an appointment with a familial tumour clinic, which you can find in larger hospitals.
In Amsterdam, the Antoni van Leeuwenhoek Hospital is an excellent option and is also a Li-Fraumeni expert ‘centre of excellence
If you qualify, they will have a consultation with you and create a family tree. They will then assess whether the suspicion is realistic. If it is, they will suggest testing. This involves a blood test. If the result is positive, a screening plan will follow.
“No one can force you to get tested. We provide the pros and cons of each decision here. By communicating honestly, you can come to a well-considered choice.
This isn’t just about you—it’s also about your family, your children, and future generations. Ignoring it is not wise. For anyone.
Seek advice from a clinical genetics centre or read through this website carefully.
We understand this is a difficult decision, but it’s one you can approach thoughtfully. We’d love to hear your opinion on the Forum—even if it’s completely different!”
Then you can make use of the screening (not mandatory, but highly recommended). The clinic where it was determined that you are a carrier can provide you with all the necessary information.
Are you struggling to process this? Psychosocial support is also available for that
No, it cannot. It stops if you are not a carrier. In that case, you also don’t need to worry about your children, grandchildren, etc.
It happens that carriers feel guilty toward their partner and children, but that’s not justified. There’s no point in convincing yourself to feel guilty. It won’t get you anywhere.
Instead, it’s better to focus your energy on understanding the situation and taking action accordingly
Tom van der Wal (1952) the author of this website, comes from a family affected by Li-Fraumeni syndrome (LFS) and is a carrier of the faulty P53 gene. Thanks to regular screening, he continues to live a fulfilling life. “My second and third cancers, for example, were discovered during annual check-ups, and at that point, there was still something that could be done,” he shares. For Tom and his family, Li-Fraumeni syndrome has been a part of their lives for decades. “Our family has learned to cope with it well,” he says. “All my brothers and sisters, as well as their children, have now been tested for the gene mutation.” The family’s journey with LFS began long before they had a name for it. “Before the diagnosis, we already suspected that the cancers in our family might be hereditary,”
To explain. “There was simply too much cancer occurring at a young age on my mother’s side, and later in our immediate family.” In 1998, the family finally received an explanation: Li-Fraumeni syndrome. “Oddly enough, most of us were relieved when we heard the term for the first time,”. “Finally, there was an explanation for the many types of cancer that had affected us. It had a name, and importantly, it meant that screening was now available for all known carriers.”
For me,, the ability to detect cancer early through regular screenings has been life-saving. “Screening has made all the difference, “It allows us to catch things early, when there’s still a chance to act.” Today, the family continues to face LFS with resilience and a proactive approach. “We’ve learned to live with it,” “Knowing the risks and having access to regular check-ups gives us a sense of control. We’re grateful for the advancements in medical science that allow us to stay one step ahead.” My story is a testament to the importance of genetic testing, early detection, and the power of family support in navigating life with Li-Fraumeni syndrome.
This highlights my personal experience while also shedding light on the broader implications of living with a genetic condition like LFS. It emphasizes the value of screening and the resilience of families facing hereditary cancer syndromes
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