The Unprofessional Guide to SHORT syndrome

I cried when I read the first chapter. Not because it was sad, but because it was the first time a piece of writing about my son's diagnosis actually talked TO me, not AT me. It explains the genetics without making me feel stupid, and it never once made me feel like it was my fault. My husband read it the same night and said 'this is the first thing that made sense.' We both feel like we can actually face the next appointment now.

Overall I'm very grateful this exists. The tables in Chapter 3 and 5 are genuinely helpful, and I appreciated that it didn't sugarcoat anything. I took off one star because I wish it had gone a little deeper into the rarer symptoms, but for someone who just got this diagnosis and is panicking, it's a solid lifeline. I recommend it to every new parent in our support group.

It's a fine little guide. I think I was just expecting something a bit more comprehensive. The tone is good and warm, like talking to a friend, but at times I felt it was a little too basic — I read a lot about genetics on my own, so some chapters felt like they were holding my hand too much. Good starting point, but if you already know anything about DNA, you'll probably can skip a few section of Chapter 2.

As a grandmother who is helping my daughter raise a child with SHORT syndrome, so much of this guide gave me practical steps and words I can actually use. I especially liked the chapter about what to say and what NOT to say to caregivers — I printed that out and stuck it on the fridge. It's not medical advice, which the book is clear about, but it's comforting and honest. I read it in one sitting.

This is the guide that my family needed BOTH times we got this diagnosis — once when my daughter was born and again when my son was diagnosed last year. The first chapter alone saved me from three nights of awful Google searching. The questions to ask your doctor list in the back? Worth the price of the book by itself. It gave us the words we didn't know we needed. I've already loaned my copy to two other families.

Clear, concise, and oddly comforting. I appreciated that it never tried to give false hope — it just explained what is, what might happen, and how to handle it day by day. I'm a dad, and the caregiver chapter felt like it was written specifically for me. It helped me stop feeling guilty for needing a break sometimes. My only complaint is I wish I'd had this guide when my daughter was first diagnosed two years ago.