Why we created Yodalix
Updated: 1 hour ago
A few weeks ago, our daughter was diagnosed with a rare disease: congenital dyserythropoietic anemia, or CDA.
We never saw it coming.
I'd had a normal pregnancy and a normal delivery. We already had a healthy 3-year-old daughter. Nothing suggested that we were about to welcome a child with a rare disease.
And yet, from the moment she was born, everything was complicated.
The first weeks: from jaundice to the first transfusions
In her very first days of life, our daughter developed severe jaundice, known as early-onset jaundice.
Her body was destroying her red blood cells, causing her hemoglobin level to drop sharply.
For several weeks, the doctors favored the hypothesis of an ABO incompatibility between our blood groups. I am blood group O and she is group A. This could explain the destruction of her red blood cells and her jaundice.
She was given phototherapy to bring her bilirubin level down, then was quickly hospitalized and transferred to intensive care.
After a few days at home, we had to go back to the hospital. A follow-up blood test done by her pediatrician when she was three weeks old showed that her hemoglobin had dropped to around 7 g/dL.
She then received her first transfusion.
But that was only the beginning.
An unexpected complication
During this new hospital stay, an ultrasound revealed a perforated colon caused by enterocolitis.
Because her hemoglobin level was so low, her body had to prioritize getting oxygen to her vital organs.
She was transferred to the ICU and monitored very closely for several days. Surgery was even considered.
In the end, we were very lucky: with fasting and antibiotics, the perforation healed on its own.
For about two weeks, she was fed parenterally, meaning directly through an IV. Then, little by little, bottle feeding was reintroduced.
Her colon was getting better.
But her hemoglobin kept going down.
Finally, a diagnosis
The ABO incompatibility hypothesis was looking less and less likely.
Just when we thought we could finally leave the hospital, her hemoglobin had fallen to around 7 again.
By then, she had already received several transfusions.
We were then transferred to another hospital specializing in pediatric hematology.
A bone marrow test (myelogram) was carried out. The first sample didn't give the expected results. A second one finally worked.
And that is when we got the diagnosis:
Our daughter has congenital dyserythropoietic anemia, CDA.
So what is CDA?
CDA is a rare disease that affects the production of red blood cells.
The bone marrow does make red blood cells, but their production is abnormal. The red blood cells are misshapen, and some of them are destroyed before they can even do their job properly.
As a result, the hemoglobin level drops and the body lacks red blood cells able to carry enough oxygen.
For our daughter, this means that for now she needs regular blood transfusions.
The disease is extremely rare. Only a few hundred cases have been reported worldwide, which is also why it is still so little known and so little studied.
There are several forms of CDA. More in-depth genetic testing should tell us exactly which type our daughter has.
So for now, we know she has CDA, but we don't yet know exactly which form it is.
And this uncertainty is part of our daily life.
What now?
For the moment, her treatment relies on transfusions.
In the long run, these can lead to a build-up of iron in the body. This iron overload therefore has to be monitored and managed by the medical teams.
There are treatments to fight this overload, but whether they can be used depends in particular on each patient's age and situation.
And then there is another option: a hematopoietic stem cell transplant, commonly known as a bone marrow transplant.
Since bone marrow is the factory that makes blood cells, replacing diseased marrow with marrow from a compatible donor can make it possible to produce healthy blood cells.
But a transplant is a major treatment, which above all requires finding a compatible donor. It is not a decision to be taken lightly.
Today, we still don't know what the coming weeks or months will bring.
And that is probably one of the hardest things to live with: not knowing.
Why Yodalix?
So why create a charity in the middle of all this?
The first reason is probably the most personal one: it is a form of therapy for me.
Creating Yodalix lets me take action at a time when, in the end, there is very little I can control.
It also lets me learn, understand this disease, meet people who know it, doctors and researchers, and talk with other families.
And above all, I need to feel that I am doing something.
But Yodalix wasn't created just for us.
Encouraging blood donation
Children with CDA may need regular transfusions.
Behind every transfusion, there is a donor.
So if this charity can help raise awareness of how important blood donation is and encourage new people to give, that will already be a first victory.
Encouraging bone marrow donation
We also want to talk about bone marrow donation.
For some patients, finding a compatible donor can be a real lifeline.
And contrary to what people sometimes imagine, donating bone marrow doesn't necessarily mean "having marrow taken from your back": depending on the situation, the cells can be collected directly from the blood.
Every new person who joins the registry can mean one more chance for a patient.
Making hospital days a little easier
We would also like to make a very concrete difference to children's daily lives.
Because when a child has to come to the hospital regularly for transfusions, those days end up taking up a big part of their life.
So why not try to make them a little happier?
A story to listen to, an activity, a visit, a surprise, a moment that changes the day…
These may sometimes seem like small things to us, but they can matter a lot to a child.
And, in the longer term, advancing research
Finally, we want to help improve understanding of CDA and support research.
Because a disease this rare is inevitably less studied than a much more common one.
We would like to support research projects, contribute to the development of new therapeutic approaches and, perhaps one day, give children with CDA treatments that end, or at least reduce, their dependence on transfusions.
I don't yet know what Yodalix will become
Today, Yodalix has just been born.
I don't know exactly how far the charity will go, or everything we will manage to achieve.
But I know why I created it.
Because when faced with something I cannot control, I need to try to do something.
For my daughter.
For the other children with CDA.
For their families.
So that this disease becomes better known, better understood and, I hope, better treated in the future.
What is true today may not be true tomorrow.
And that is exactly why we decided to act today.
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