A Mother’s Fight for Awareness: Susana Carvajal’s Story of Familial Hypomagnesaemia

Susana Carvajal shares her family’s journey navigating familial hypomagnesaemia in Spain, in this interview led by Matt Bolz-Johnson, EURORDIS’ ATMP and Mental Health Advisor.

Susana opens up about the challenges of raising a child with a rare condition, the uncertainty following her son’s diagnosis, and the emotional toll it took on the whole family. She discusses the lack of information, the struggle to find support, and how advocating for awareness became a mission to help others facing similar challenges.

Susana Carvajal’s Testimony

Navigating familial hypomagnesemia: a family’s journey of advocacy and support

My son was diagnosed with familial hypomagnesaemia (with nephrocalcinosis and hypercalciuria) at just eight months old. Initially, it was mistaken for a urinary infection, and we were referred to a urologist who told us, “Do not worry, it is possibly a chronic kidney disease, we are going to confirm it with a genetic test. Your child will need many medications, like a diabetic, but he will still reach university and beyond.” At that moment, I did not fully grasp the implications of what this meant for our lives.

The impact of diagnosis

Receiving that diagnosis was overwhelming. I remember thinking: “This is going to complicate our lives even more.” But as we navigated through the confusion and fear, my husband and I began searching for information and found out that familial hypomagnesaemia is incredibly rare. There was no information available on where to find patients, and it was suspected that there was almost no one with this condition. Our astonishment and fear grew enormously. This lack of clinical registries and knowledge plunged us into a black hole. We had to put our fears aside. This first nephrologist reviewed his patient list after our son’s diagnosis, and he found another case of familial hypomagnesaemia that hadn’t been diagnosed. We thought that if another case had been found based on our son’s diagnosis, there were surely more undiagnosed cases. We decided to create an association to find more families in this situation. Still, 10 years later, we have less than 40 patients with this disease. We wanted to share all this information with those who had not had it and formed a patient association.

Along the way, we found families who belonged to visual impairment diseases groups, such as the ONCE Association for the Blind in Spain. One type of familial hypomagnesaemia, characteristic of patients in Spain, involves visual impairment. And this impairment hides the underlying cause, which is the rare kidney disease. Thanks to our association, some families were diagnosed.

The role of community support

Building a support network was crucial. We connected with other families facing similar challenges, which helped alleviate part of the isolation we felt. We organised learning events to raise awareness and funds for our patient association, which has been a beautiful journey of seeing life differently. I also learnt that the impact of familial hypomagnesaemia goes beyond just physical health; it affects mental health too because of its presentation and complexity of treatments. A young patient of our association was already suffering from ongoing depression in the final stages of kidney failure before undergoing a kidney transplant. This extreme physical condition of the kidney affects mood, energy, and concentration. This patient also lost his mother’s kidney in the transplant, which increased his emotional and mental distress and, consequently, his quality of life. These stories highlight the importance of psychological support for both patients and their families.

Facing Multiple Challenges

As my son approached adolescence, his kidney function declined, and he began to experience fatigue, mood swings, low concentration, low motivation and self-confidence, which resulted in anger and a continuous state of sadness. He is receiving psychological support, but we have learnt that his mood swings are due not only to his age but also to the final stage of his kidney failure. Managing his school life while ensuring medical care and psychological support was tough. He is now 14 years old and facing renal failure, but he is doing well in school.

I also learnt that psychological support is essential for the entire family. My second son has Asperger’s and ADHD, which brought its own set of challenges during his adolescence. It was a tough period where I had to learn not to overprotect him while also being supportive.

Empowering advocacy and building community

As parents of a child with a rare disease, my husband and I have embraced our advocacy roles in order to support other families. My husband collaborates on voluntary basis with FEDER España, (Rare Disease Spanish Federation), ALCER, Spanish Federation of Chronic Kidney Diseases and with Hipofam (familial Hypomagnesaemia and Gitelman Syndrome Spanish Association) while we focus on raising awareness about hypomagnesaemia. For my part, I also collaborate on a volunteer basis at the European level, representing Family Hypomagnesaemias and Gitelman Syndrome on ERKNet and representing and coordinating the work of FEDERG, Federation of European Patient Groups affected by Rare/Genetic Kidney Diseases. Our mission is to ensure that families across Spain receive the support they need.

This journey has taught me to manage uncertainty and not overthink challenges, following early advice we have learnt to focus on what we can control. What began as fear has evolved into a drive to help others, and through organizing fundraising and community events, we have witnessed the profound impact of collective support. This sense of community has been a vital source of strength and resilience for us, highlighting the importance of unity in facing adversity.

Embracing the journey

As we move forward, my focus is on providing the best care for my son while advocating for others in similar situations. Despite the challenges, maintaining hope and positivity is crucial. By sharing our story and supporting each other, we can impact the lives of families facing rare conditions like hypomagnesaemia. Do not overthink, just trust your instincts as a parent, seek support, and embrace the journey. Life may differ from expectations, but it can still be fulfilling and meaningful.

Over the coming weeks and months, EURORDIS will continue publishing testimonies obtained from advocates living with a rare disease who have kindly shared with us their experiences of the impact of having a rare disease on mental wellbeing and their hopes for the future.

If you would be willing to share your own personal story as one of our testimony please contact Matt Bolz-Johnson, our Mental Health & Wellbeing Lead, at matt.johnson@eurordis.org.

Our last testimony was from Kate Tyler, who shared with us her journey of living in the UK with multiple rare congenital anomalies..

Visit our Mental Health & Wellbeing webpage to read upcoming articles from our series of testimonies.