Edwards Chooses IVF PGT Path

Choosing the Future: Lucy Edwards, IVF, and the Ethics of Genetic Selection

Content creator Lucy Edwards, widely recognised for her vibrant TikTok presence and advocacy work, is embarking on a significant personal health journey. The 29-year-old broadcaster has openly shared her path towards in-vitro fertilisation (IVF), a decision interwoven with complex considerations about her genetic legacy. She and her husband, Ollie Cave, face profound choices regarding screening for the gene responsible for her blindness.

Navigating Family Planning with a Rare Condition

Edwards expressed her long-held desire to build a family during a public discussion. Having married Ollie at Kew Gardens two years prior, the couple feels ready to expand their family. However, the presence of Lucy's rare genetic condition, Incontinentia Pigmenti (IP), necessitates careful planning. This condition led to her complete sight loss around the age of 17, shortly after she and Ollie first met.

Bloch-Sulzberger Syndrome: Genetic Origins and Impact

IP, also known as Bloch-Sulzberger syndrome, is a rare genetic disorder primarily affecting the skin, hair, teeth, eyes, and central nervous system. It stems from mutations in the IKBKG gene (also called NEMO) located on the X chromosome. This gene plays a crucial role in activating NF-kappaB, a protein complex vital for cell survival, inflammation, and immune responses. Mutations disrupt this pathway, making cells more susceptible to programmed cell death.

The Inheritance Pattern of IP

The condition follows an X-linked dominant inheritance pattern. Females have two X chromosomes (XX). A mutation in the IKBKG gene on one X chromosome is sufficient to cause IP, even with a normal gene on the other X. Due to a process called lyonization, where one X chromosome is randomly inactivated in cells early in development, females are functional mosaics. This means they have populations of cells with the mutated gene and populations with the normal gene, leading to varied symptom severity.

Impact on Males and Family History

Males have one X and one Y chromosome (XY). A mutation in the IKBKG gene on their single X chromosome usually results in a complete loss of the protein's function. This lack of protein is typically lethal early in male embryonic development, often resulting in miscarriage. Survival in males is rare but can occur due to somatic mosaicism (the mutation occurring after conception in only some cells), less severe mutations, or having an extra X chromosome (Klinefelter syndrome, XXY).

Edwards' Family Experience with IP

This genetic pattern is evident in Edwards’ own family. Her mother carries the gene but retains her sight. Lucy's grandmother also had IP, and a great-aunt experienced blindness in one eye. Edwards’ complete blindness illustrates the potential severity in females. Her grandmother tragically endured nine miscarriages, likely male fetuses affected by the lethal nature of IP in XY individuals. This stark family history profoundly influences Lucy and Ollie's decisions.

Image Credit - BBC

Genetic Screening and IVF: Lucy and Ollie’s Path to Parenthood

Given the risks associated with IP, Lucy and Ollie have opted for IVF coupled with pre-implantation genetic testing (PGT). PGT, formerly known as pre-implantation genetic diagnosis (PGD), is a specialised technique used alongside IVF. It allows couples at risk of passing on a serious genetic condition to screen embryos before implantation. This involves creating embryos outside the body through IVF.

The PGT Process Explained

The process begins like standard IVF. The woman undergoes ovarian stimulation using hormones to produce multiple eggs. These eggs are collected surgically. Fertilisation occurs in the laboratory, typically using intracytoplasmic sperm injection (ICSI), where a single sperm injects directly into each egg. The resulting embryos develop for several days, usually reaching the blastocyst stage. Technicians then carefully perform an embryo biopsy, removing a small number of cells.

Genetic Analysis and Embryo Selection

Technicians analyse the DNA from these biopsied cells, specifically looking for the IKBKG gene mutation linked to IP. Only embryos identified as unaffected by the IP gene are selected for transfer. One or sometimes two unaffected embryos are transferred into the woman's uterus, hoping implantation and a healthy pregnancy will follow. Any remaining unaffected embryos can be frozen for future use. PGT allows the couple to avoid passing on the specific genetic condition.

Weighing the Potential Outcomes

Edwards clearly articulated the potential outcomes if they conceived naturally. There remains a likelihood of having a healthy girl or a healthy boy. However, there would also be a risk of conceiving a male fetus with IP, highly likely resulting in miscarriage or severe brain damage if born. Another possibility is having a daughter affected by IP, inheriting the same condition Lucy lives with.

The Ethical Tightrope: Identity vs Prevention

This situation presents a deeply personal ethical conflict. The PGT process will select embryos without the IP gene – the very gene linked to the blindness that has shaped Lucy's identity and career as a prominent broadcaster, disability activist, author, and speaker. Removing this characteristic from her future child feels like removing a part of herself, a component intrinsically linked to her life's work and perspective.

Broader Debates on Genetic Screening

The use of PGT and prenatal screening technologies sparks significant ethical debate worldwide. Much public discourse centres on conditions like Down's syndrome and the implications of selecting against certain genetic variations. These discussions touch upon societal values, perceptions of disability, reproductive autonomy, and the potential for discrimination against people living with genetic conditions. Critics question whether these technologies subtly promote the idea that certain lives are less valuable or desirable.

The Fight Against Discriminatory Laws

Advocate Heidi Crowter, a woman living with Down's syndrome, questioned UK abortion law. The law permits termination later in pregnancy if there is a "substantial risk" the child would be "seriously handicapped," compared to the standard limit for other reasons. Crowter argued this distinction is discriminatory and incompatible with human rights principles, sending a message that lives like hers are less worthy.

Crowter's Continuing Campaign

Crowter pursued her case through the legal system. Despite setbacks in domestic courts, which affirmed Parliament's role in setting such legislation, she remained determined. Her campaign continues, aiming for legal reform and emphasizing the value and equality of disabled lives, potentially seeking avenues through international human rights bodies. Crowter’s persistence highlights the ongoing struggle for disability rights and recognition.

Lucy's Awareness and Justification

Lucy Edwards is acutely aware of these complex ethical dimensions. She and Ollie have thoroughly contemplated the implications. Edwards acknowledges the feeling of removing a part of her own identity from her child and anticipates potential criticism about "designer babies." However, she stands firm in her reasoning, driven by a desire to minimise known risks associated with IP.

Motivated by Experience and Prevention

Edwards' decision stems from deeply personal experiences. Experiencing vision loss in her teenage years during a formative period was traumatic. Compounded by her family's history of miscarriages linked to IP, these events heavily shape her choice. She views PGT as a responsible use of available science to maximise the chances of a healthy baby and avoid predictable, severe complications or pregnancy loss, especially concerning potential male offspring.

Distinguishing Known Risk from Chance

Edwards draws a distinction between knowingly passing on a condition with severe potential outcomes and accepting a child with unforeseen disabilities. She stresses that a child born with impairments or disorders discovered later holds immense value. Her choice relates specifically to the known high risks associated with the IP gene in her family, particularly the lethality in males and the potential for severe multi-systemic issues beyond blindness.

Incontinentia Pigmenti: Beyond Blindness

It is crucial to understand IP's potential impact extends beyond vision loss. While blindness is a significant manifestation, IP affects multiple systems derived from the embryonic ectoderm. Neurological complications occur in a significant percentage of patients, potentially including seizures, developmental delays, intellectual disability, muscle weakness or paralysis, and structural brain changes. Dental anomalies and hair/nail issues are also common features of the condition.

A Sense of Responsibility with Modern Science

Edwards feels a sense of duty, acknowledging that previous generations in her family did not have the option of PGT. The availability of this technology presents a different landscape of reproductive choice. She believes that having access to a scientific method capable of mitigating severe known risks makes choosing not to use it difficult, given the potential consequences witnessed in her family history.

Respecting Diverse Choices

While confident in her family's path, Edwards emphasises that decisions surrounding reproduction and genetic conditions are intensely personal. Each individual or couple facing similar circumstances must weigh the risks and options based on their specific situation, condition severity, and personal values. She advocates for understanding and judgement-free consideration of diverse family journeys, acknowledging the complexity involved.

Navigating Public Scrutiny with Confidence

Edwards’ openness about her IVF plans has largely met with supportive reactions, likely bolstered by her consistent message of disability positivity. She firmly embraces her identity, often stating her life as a woman with blindness is fulfilling. However, sharing personal details, especially concerning IP, has occasionally exposed her to negativity, particularly harsh anonymous comments questioning her suitability for motherhood due to her genetic condition.

Building Resilience Against Online Abuse

To counteract potential harm from negative feedback, Edwards employs practical strategies like using blocking features on social media to filter hate speech. She focuses her energy on positive examples of motherhood, drawing strength and guidance from competent, resilient women who navigate parenthood confidently, regardless of external perceptions. Her proactive approach protects her mental wellbeing during a sensitive time.

The Practical Hurdle: IVF and BMI Requirements

Beyond the emotional and ethical weight, a practical hurdle emerged. Edwards candidly shared that she initially exceeded the BMI threshold required for NHS-funded IVF treatment. Health service guidelines in England generally stipulate a BMI within a specific range for women undergoing treatment to optimise success rates and minimise pregnancy risks associated with higher weight.

Addressing Weight and Fertility Openly

Edwards noted this aspect of the fertility journey is rarely discussed by influencers her age. Her honesty highlights the sensitivity surrounding weight, even within healthcare settings. At the time of her initial discussions, she needed to lose a specific amount of weight, having already made significant progress. This requirement added another layer to her preparations for IVF treatment.

Journey to Sustainable Wellness

To meet the BMI criteria, Edwards embraced a dedicated health regimen. Her approach focuses on sustainable wellness rather than quick fixes. She incorporates regular swimming, weightlifting, and outdoor runs, guided by her husband, Ollie. Alongside exercise, she prioritises balanced nutrition, sharing her meal prepping and cooking experiences, complete with accessible visual descriptions, across her online platforms.

Choosing Wellness Over Quick Fixes

Edwards consciously avoids weight-loss injections or extreme measures often advertised online. Her focus remains on holistic health, finding joy in activities like running and preparing nutritious food. This positive approach aligns with her broader message of self-care and resilience, demonstrating a commitment to her physical wellbeing as a prerequisite for accessing fertility treatment through the health service.

The Next Steps in the IVF Process

Achieving the target BMI opens the door to publicly funded IVF cycles. The PGT process itself requires significant preparation. Edwards and Ollie will provide DNA samples to a genetics laboratory. Scientists use these samples to develop a specific test probe capable of identifying the IKBKG gene mutation in embryos. This test development phase can take several months to complete accurately.

From Test Development to Embryo Transfer

Once the bespoke genetic test is ready, the IVF cycle begins with hormone injections to stimulate egg production. Following egg retrieval and fertilisation (using Ollie's sperm), the embryos culture for several days before the biopsy. Genetic analysis using the tailored probe identifies affected and unaffected embryos. Finally, clinicians transfer a selected unaffected embryo into Lucy's uterus, followed by a waiting period before a pregnancy test confirms success.

Anticipating Motherhood with Complex Feelings

Lucy Edwards looks forward to motherhood with anticipation and joy. She visualises holding her baby close. Yet, she acknowledges the lingering complexity – the conscious decision to potentially remove an element intrinsically linked to her own identity from her child. Despite this, she expresses a sense of peace and resolution regarding her family planning choices and the path forward.

Sharing the Journey Publicly

Edwards continues to share milestones, recently posting online about needing smaller clothing sizes after her successful weight loss. She demonstrated how an outfit had become too large, signalling her progress. This update coincided with her expressed intention to contact the fertility clinic soon, hopeful of meeting the criteria and formally beginning the IVF and PGT treatment cycle in the coming weeks. Her journey highlights the intersection of disability, identity, modern reproductive technology, and the deeply personal choices involved in building a family today.