When Genetics, IVF and Hope Meet: A Family’s Journey with Diamond–Blackfan Anaemia
There are some consultations that stay with you long after the video call has ended.
Not because there is an easy answer, but because behind every test result, every embryo report and every medical phrase, there is a family trying to do the very best for their child.
I met this family by video consultation. They were gentle, thoughtful and clearly devoted to one another. Like many parents I see, they had become experts in words they never expected to learn: blood counts, bone marrow, mutations, IVF cycles, embryo grades, HLA matching and transplantation.
Their first child had been diagnosed with Diamond–Blackfan anaemia, a rare bone-marrow failure condition. For families, the diagnosis can arrive gradually—through repeated blood tests, hospital visits, worry about feeding or tiredness, and the dawning realisation that this is not a short-term problem that will simply disappear.
Eventually, genetic testing identified the explanation: a disease-causing genetic change associated with Diamond–Blackfan anaemia.
The result appeared to be de novo. In other words, the genetic change had not been found in either parent’s blood sample. It seemed to have happened for the first time in their child.
For parents, this can be a particularly painful kind of uncertainty. They may have done everything “right”. There may be no known family history and no warning before pregnancy. Yet they are left asking questions that medicine cannot always answer completely: Did we miss something? Could we have prevented it? Will this happen again?
It is important to say clearly: a de novo genetic change is not usually caused by anything a parent did or did not do. There is no blame. But knowing that does not necessarily take away the weight parents carry.
A hope that became more complicated
As their child’s medical journey continued, the family began to explore future options. They wanted another child, but they also naturally wondered whether a future sibling could one day be a suitable donor for their affected child, should a stem-cell or cord-blood transplant become necessary.
This is where the conversation moved into the complex world of IVF genetics.
They considered PGT-M—preimplantation genetic testing for a monogenic condition. This is an IVF technique in which embryos are tested for a known genetic condition before transfer. In this situation, the aim was to identify embryos that had not inherited the relevant genetic change.
They also explored PGT-HLA, which looks at tissue-type compatibility. HLA matching may be important when a child needs a stem-cell transplant. A closely matched sibling can sometimes be an especially valuable potential donor, although every transplant decision must be made by specialist haematology and transplant teams, and no outcome can ever be guaranteed.
For this family, it was not a theoretical discussion. It was personal. It was about their child. It was about hope.
But PGT-HLA is not a simple extra test. The chances are often difficult. Even if several embryos are created, only some may be unaffected by the genetic condition, and only some may be HLA compatible with the affected sibling. The number that are both suitable for transfer and HLA matched can be very small.
They went through an IVF cycle and created six embryos.
Six embryos may sound like a reassuring number to someone outside fertility treatment. But for a family undertaking PGT-M and HLA testing, every embryo carries a different possible future. Every result can feel like a door opening—or closing.
After testing, only one embryo was found to be HLA compatible.
One.
That embryo carried an extraordinary amount of hope. It represented the possibility of another much-loved child and, perhaps, a future sibling who might be able to help their older brother or sister through cord blood or stem-cell donation.
But the embryo did not implant.
There are few medical sentences as short, and as devastating, as that one: it did not implant.
No scan. No heartbeat. No pregnancy continuing beyond the early days. Just another loss, after weeks or months of preparation, injections, appointments, costs, waiting and emotional effort.
The difficult truth about embryo testing
One of the most important parts of a genetics consultation is explaining what PGT can and cannot do.
PGT-M can help reduce the chance of transferring an embryo with a known genetic condition. PGT-HLA can help identify embryos that may be HLA compatible with an affected sibling. But neither test can guarantee implantation, pregnancy, a healthy live birth or a successful transplant.
An embryo can have reassuring genetic results and still not lead to a pregnancy. Implantation depends on many factors: embryo development, chromosomal health, maternal age, the uterus, the IVF process and biological factors we still do not fully understand.
It can feel brutally unfair. Families may ask, “We finally had the one embryo we needed—why did it not work?”
There is rarely one answer. And it is not because the parents did anything wrong.
The family later had other children. These children were wanted, loved and brought their own joy. But they were not HLA matches for their sibling.
This is the kind of detail that does not fit neatly into a medical report. It can carry complicated emotions. Parents may feel enormous happiness and gratitude for a healthy new baby, while still wondering what comes next for their affected child. They may feel relief, sadness, hope, exhaustion and guilt, sometimes in the same day.
These feelings are not a failure of gratitude. They are a reflection of how much parents love all of their children.
More than a test result
In a complex consultation like this, my role is not simply to explain PGT-M, PGT-HLA or a laboratory report. It is to help a family pause, take stock and understand the choices in front of them.
For a child with Diamond–Blackfan anaemia, the process may involve the child’s haematologist, transplant specialists, fertility doctors, embryologists, PGT laboratory scientists and a clinical geneticist. Each team contributes an important part of the picture.
We need to consider whether the diagnosis is secure, whether the PGT-M assay can be developed reliably, what the residual recurrence risk may be after a de novo finding, and whether PGT-HLA is appropriate and feasible. We also need to talk honestly about embryo numbers, treatment burden, cost, timing and the possibility that another IVF cycle may still not produce an embryo that is both genetically suitable and HLA matched.
Families should also be supported to consider all reproductive options without judgement. These may include further IVF with PGT-M and PGT-HLA, IVF with PGT-M alone, natural conception with prenatal testing, donor conception, adoption, or deciding not to pursue further fertility treatment. At the same time, the child’s medical team may explore other donor and treatment pathways.
There is no single correct decision. There is only the decision that feels most manageable and right for that family at that moment.
The importance of compassionate genetic counselling
The most meaningful part of this video consultation was not a particular figure or genetic term. It was seeing how much this family had already carried.
They had navigated a rare diagnosis. They had entered the unfamiliar world of IVF. They had faced embryo testing and the hope of HLA matching. They had experienced the loss of the one embryo that seemed to offer a particularly important possibility. And they continued, with love and determination, to care for all of their children.
Their story is a reminder that reproductive genetics is never only about technology. It is about people: parents who are frightened but hopeful, children living with rare conditions, and families trying to make loving decisions in circumstances they never chose.
PGT-M and PGT-HLA can offer an important option for selected families affected by Diamond–Blackfan anaemia and other serious genetic or bone-marrow conditions. But the process is complex, emotionally demanding and never guaranteed.
A personalised clinical genetics consultation can help families understand the science, the limitations and the possible next steps before or during IVF treatment. More importantly, it can give them a place to ask difficult questions—and to feel heard while they do.
