It's been a while since I've written anything on here... I was actually reminded today that I had a thread on The Mighty, and it definitely ended up being a blessing to me. I need this group now more than ever. After seven years of searching for answers as to why my little boy kept regressing, we finally got an answer on November 7th, 2019. He does not have Autism, as we have always suspected the entire time. He was diagnosed with GM1 Gangliosidosis Type 2
Juvenile. A rare and fatal genetic disorder with no known cures or treatments at this time. There are no words to describe how devastating the seconds, minutes and hours were after that initial phone call. The days, weeks, and now months are extremely painful. They tell you to hold your child tight. Make many memories. Always keep a smile on your face for your child and always do your best to make and keep them happy. It's nearly impossible, as I find myself breaking down daily behind the bathroom door or with my face burried in a pillow at night so my sobs don't wake him up. It's hard. Very hard. But I have accomplished a lot for my son since then and am always trying to find ways to make him happy, comfortable and make great memories. Then Covid-19 stepped in and tore all the progress we were making down. Stripped him of his much needed schooling, services and therapies. My son has regressed so much physically since March, even with distance therapies through Zoom and everyday simple exercises and massage that I was taught how to do with him. He does not have a Gait Trainer at home or a Sensory Play Gym. No 1:1 nurse or Professional Therapists. I will write more about that later, in another post. I am mad at myself for pushing for answers. I am mad at myself for not being able to be the teacher, nurse, therapist, doctor or other adults he needs in his daily life right now. I am angry with myself for not having an early schedule for him anymore and mad at myself for not being able to know what's bothering him right away when he is off. There are so many reasons to be angry but the greatest reason is why I am angry, is that I am not able to save my little boy. The little boy I carried in my womb for 9 months. The little boy who is SO determined to walk alone on his own again and don't understand why he can't. The little boy that despite his pain and diagnosis, has a huge, beautiful smile on his face everyday. Who's laugh is contagious and harmonious, and who's cuddles are the purest of the pure. I'm ANGRY. I'm angry that life is so unfair to those so undeserving. I'm angry that I pushed for an answer, but at least we now know and can better help him medically. The first ever Gene Therapy Trial for GM1 started recruiting just a few months before my son's diagnosis in 2019. So at least there is some hope now, where there wasn't any at the beginning of 2019. Sadly, he did not meet the criteria. How do I forgive myself for pushing? How do I stop being angry with me? 😔 #gm1 #Gm1Gangliosidosis