Meet Sage! The September eKid of the Month!

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Sage was born on November 20th, 2014, he was a 7 pound 15 ounce 20 inch long beautiful baby boy. The doctors sent my placenta away for testing since his kidneys were a little big on an ultrasound and found storage vacuoles. They told me that he had a ‘special rare disease’ some are not so serious and others are deadly so we need to talk about quality and longevity of life. Wait, what?! After I was discharged from the hospital they sent us to Children’s Hospital of Pittsburgh for genetic testing, we were there for the first week of his life. They finally told us he has GM1 Gangliosidosis and most children do not live past 2 years old. He was only 2 months old at this point. So I searched and searched for a way to save my baby and I found Genistein, which he is no longer taking due to a nationwide shortage, and a clinical trial at the university of Minnesota which we did not end up taking part in. I found out about Genistein through Sage’s genetic therapist at Children’s Hospital of Pittsbugh, she mentioned it when I said I wanted to do an Enzyme Replacement Therapy for him. I didn’t know that didn’t exist yet. She told me that other parents have tried it and some said it really helped and other say they didn’t notice a difference. The only side effect I was told would be an upset stomach (I haven’t noticed it) There isn’t a lot of research on Genistein and GM1 so I just trusted that this soy concentrate would help my baby.

A while ago Sage got sick and was throwing up and his oxygen levels went down into the low 80s. We found out he had bronchiolitis non-RSV. When he was throwing up I stopped giving him the Genistein because I thought that was why he was throwing up. It turns out he was throwing up because his hernia/hydroceles came back. He has also been hospitalized quite a few times for aspiration pneumonia, the most recent visit being in August when he was life-flighted to Children’s and put on life support. While he was not taking the Genistein I noticed he wasn’t holding his head up very well and was doing worse and worse during his early intervention therapy appointments. Well, when I started giving it to him again he had been holding his head up like a champ! He was even doing better with tummy time and rolling over and sitting like a big boy all by himself! So, I am not entirely sure all the credit should go to Genistein but I don’t think it was a coincidence, his physical therapist even noticed a big change in him as well. When Sage was 4 months old and starting to eat carrots, peas, apples, and bananas. He was having a very hard time with pushing up off the ground and holding his head up. He has since stopped holding his head up and sitting and no longer eats by mouth. He is strictly fed through his GJ tube. But he’s a great story teller and has a smile that could light up the room! He has brought our entire community together. I hope to give him the best possible life I can give him while I have him! If you want to follow baby Sage’s progress with GM1 our Facebook page is Genistein For Baby Sage

By Haley, Sage’s mother