Our Stories

Dear WSS Families,

I was diagnosed at 27 years old…

It is almost rare disease day. It’s made me take a look back on our journey, from finding a diagnosis for Kohen to everything he has been through in his short 4-and-a-half-years, so far.

Sarah is 40 years old. She had the typical Wiedemann-Steiner Syndrome (WSS) signs and symptoms from birth, but in 1981, nobody had identified the KMT2A gene.

Trevor is a smart, energetic, vibrant 8-year-old boy, who is the one in a million to have the rare genetic disorder, Wiedemann-Steiner Syndrome.

flight.  Therapies for feeding, development and speech.  Then add in the equipment.  A g-tube in her belly and a feeding pump to deliver nutrition to her body that just won’t grow. Daily injections.  An oxygen tank, a nebulizer, monitors, to help us keep her breathing.  Wires and tubes, alarms and beeps.  This is the life of the rare.  Those with rare diseases. 

Thinking about Rare Disease Day, makes me think back on the journey our Lilly has gone on. Watching her face all the big and little challenges has shown me how strong rare can be.

L histoire de notre guerriere WSS ( Wiedemann-Steiner syndrome). Alya a été diagnostiquée 10 mois plus tard, en avril 2021. Nous sommes en admiration devant notre fille qui ne se plaint jamais, et on l’aime de tout notre cœur.

Aniston was diagnosed with Wiedemann-Steiner Syndrome at 14 months. During the first 6 months of her life, she cried for 20 hours a day and didn’t sleep. Growth was horrible and eating was a nightmare. Aniston continues to attend speech, OT, and now ABA (applied behavioral analysis) therapy. We always worry if we are doing enough to help her reach her potential.

Jordan is 17-years-old. He was diagnosed with Wiedemann-Steiner Syndrome in July 2021. Finding out he has a genetic mutation brought everything together. Receiving the news did not change the person he is!

On 25 June 2018, a beautiful little girl was born into this world. A petite little girl with a lot of dark brown hair and big almond shaped eyes. Maja.

Rare now describes every aspect of life for us. The hardships, feelings, pains, emotional turmoil with each new diagnosis, celebrations, milestones…All of it, rare.

We never expected to find out that our daughter had a very rare genetic condition. But does anyone? There’s nothing that truly prepares you for that moment. All of the doctor visits, the procedures that had to happen, the endless amount of time spent googling her “symptoms”, none of it prepares you for hearing the words: “Your daughter has Wiedemann-Steiner Syndrome.