Patient Stories

Every family’s journey with GACI and/or ARHR2 is unique. The road can be exhausting, challenging, heartbreaking, hopeful, and inspiring. Read on to discover some real-life patient stories as told in their own words.  If you’d like to share your story, please get in touch with us.

Sienna's Story - United States

Sienna’s Story – United States

Facing The Uncertainty of GACI  Two-and-a-half-year-old Sienna greets everyone with a smile and an enthusiastic, “Hi!” That’s quickly followed by the assertion that Frozen is her favorite movie as evidenced by the princesses adorning her clothes, which she proudly points out. Sienna’s mom, Jean, listens in amusement as Sienna dances ... Read More >
Sharon's Story - United States

Sharon’s Story – United States

Too Little Too Late: A Mom’s Plea for Improved GACI Screening  Sharon’s passion for children shines in her work as a medical assistant in pediatric neurology. Although she loves working with kids, she was unsure about whether she wanted to become a parent herself one day.  Growing up, Sharon spent ... Read More >
Laura & Martina's Story - Italy

Laura & Martina’s Story – Italy

The story of Laura and Martina and a rare disease called GACI with two very different outcomes. The two sisters are affected by the same rare disease: one risked dying immediately after birth and lives in a wheelchair; the other has only slight skeletal problems.  Laura and Martina are two ... Read More >
Ruben's Story - United Kingdom

Ruben’s Story – United Kingdom

Born on World Heart Day, the story of this little boy will capture anybody's heart.  This is Ruben's story, as told to us by his mother. Ruben was monitored closely during pregnancy due to his brother being 7 weeks premature, with no reason for the early labour. Everything was as ... Read More >
Laura's Story - Italy

Laura’s Story – Italy

ARHR2 - Autosomal Recessive Hypophosphatemic Rickets Type 2 Laura: “At the age of 13 I had already had 7 leg surgeries.” The patient tells her story: “The psychological aspect of the disease was the most difficult to bear. I’m still struggling to accept with my scars.” Laura’s story began at ... Read More >
Janine's Story - United Kingdom

Janine’s Story – United Kingdom

One of my earliest memories is walking through my local children’s hospital with my mum and dad. It’s a happy memory, but I could always feel an undercurrent of anxiety surrounding each hospital visit. I knew I was a twin (my brother Adrian passed away at 6 weeks old).  We ... Read More >
Liam's Story - United States

Liam’s Story – United States

My first pregnancy was textbook until it wasn’t. I always knew I wanted to be a mom, and carrying my son made me feel like I’d finally found myself. I adored my growing belly, and feeling his kicks sent me over the moon. We had a “perfect” anatomy scan at ... Read More >
Sir’Savion’s Story - United States

Sir’Savion’s Story – United States

Sir’Savion was born 8-6-15. My pregnancy seemed fairly normal, until my 36 week ultrasound which showed fluid around my baby’s heart. I had to go see a pediatric cardiologist who decided that 2 days later I was having my son via c-section. Upon being born he was in a lot ... Read More >
Callum & Nora's Story - United States

Callum & Nora’s Story – United States

In 2010, our son Callum was born unexpectedly at 25 weeks gestation, weighing only 1 pound 9 ounces. He had a difficult NICU stay with several complications including chronic lung disease, extremely low blood pressure, and infection ... Read More >
Natalie’s Story - United States

Natalie’s Story – United States

Two weeks before Christmas 2012 it was time to begin the “to do” list for the busy holiday season. As I scooted up to our kitchen table with my growing pregnant tummy, I stopped a moment to answer the phone. Our obstetrician was calling to share the results of the ... Read More >
Vicki’s Story - Australia

Vicki’s Story – Australia

In 2003, I gave birth via emergency C-section at 34 weeks gestation. My daughter needed resuscitation immediately. She had doctors confused as to what may be happening to her and why it was so difficult to stabilise her. At three days old, she was flown from special care to intensive ... Read More >