We always say it isn’t Hannes’ job to teach us inclusivity, strength and joy in the minutiae, and yet he does exactly that every day.
One of three energetic, slightly crazy, and incredible boys, each 2 years apart, Hannes was born with PIGW-CDG, which is an ultra rare genetic disorder that was unknowingly inherited. The first 4 months of his life were mostly typical. There were a few early signs, like jerky movements, but it wasn’t until Christmas of 2021 that we veered irrevocably off the normal path. Initially hospitalized for suspected seizures, what followed were countless doctor’s appointments, testing, and ultimately a diagnosis by the Mayo Clinic.
Doctors are sometimes nervous to meet us, because of what a devastating disease this is. Hannes stops them in their tracks.
Hannes’ PIGW-CDG story
Weight bearing in a stander
Against all odds, he is fighting to hit milestones were were told unlikely in his lifetime. He’s found a way to move (we call it his snake slither!), is close to traditional crawling. He just mastered pulling himself to sit and blows his therapists away with his perseverance and positivity. He lights up when he sees his brothers, and they have adapted to playing on their bellies, at his level, without even realizing it. At a year and a half, he doesn’t yet babble and, without treatment, we don’t know if he’ll walk or talk, but right now, we see progress every day. As symptoms evolve, all development could stop, which is why we need treatment now. It’s inspiring to see your child beat back a debilitating disease. It’s heartbreaking to know that, without treatment, symptoms may rob him of what he’s working for.
As with all rare diseases, families must advocate for research and treatments. When our son was diagnosed, we were told he was one of 10 cases globally. In reality, we are discovering there are far more; the isolation of rare diseases means families and doctors just don’t know about each other. As evidence of this, we’ve since connected with a number of PIGW families who aren’t reflected anywhere in literature.
It’s imperative we act quickly, while our children are young, to preserve their ability to develop. Drug repurposing is the fastest, most cost effective pathway to putting something in these children’s hands that may treat, or slow the effects of, the disease. We have partnered with a biotech lab, Perlara to do this. Money raised here will be used directly for this work. But we won’t stop there. The science exists to push for a cure. Early studies of other PIG genes indicate gene therapy could be effective, so we will continue to fight for both immediate treatments and long term cures, both of which have the power to impact not only other PIGW families, but other PIG gene families and GPI anchor or CDG families.
As our 5 year old says, our family is special because Hannes is in it. He has forever changed us and, in turn, we hope to forever change the future for him, and others like him. Please help us give these children a chance to fight for their future.
Hannes’ family
First time supporting himself on hands and knees
Sitting with his brother