Mighty Matty

Hi, my name is Kassie and on June 26, 2019 I was blessed with my 4th and final son. I was so happy and in love with this tiny human being but almost immediately I knew something wasn’t right. He was vomiting after every feed to the point my blankets would be soaked, he was also having constant diarrhea. Mattys symptoms were brushed off by almost every doctor as colic, I knew deep in my heart it was more he was not only sick from his stomach from birth but he was also unable to walk and crawl and talk at the normal age, he was so delayed and missing all of his milestones. We were almost immediately given an autism diagnoses but that still did not sit right in my heart I knew there was something more serious going on and after putting up a battle for a solid 3 1/2 years of answers he was finally referred to a geneticist. We were given a WES test which required the drawing of blood from Matty, his father and I. January 4th 2023 we finally found out Matty had a rare genetic variant that has never been seen before or reported and what makes it even more rare is that it is De novo meaning neither his father or I are carriers of the mutation the only silver lining is that none of our other children will have a chance of having a child like Matty. He also had a brain MRI and we found out his corpus callosum did not form so all along it was never autism it was brain abnormalities that were causing a lot of his delays and behavior issues. He is now 4 yrs and 5 months old and still very sick with chronic diarrhea and constant stomach pains he has been given every test and still no answers as of now there is no treatment or cure for Matty and his future is uncertain. Basically just wait and see what happens to him and report it back to them. I can’t do that. He is suffering in pain and no one can give us any answers he will eventually get lost in the shuffle. I need to get him to Bostons children hospital they have the best doctors who specialize in rare genetics. I have tried everything to get him there but as a single mom it’s impossible. Even if is $1 it’s help and if you can’t donate please share. Matty deserves to live a long comfortable life not an uncertain one I just need to know that I did everything to get as much answers and discovery of this unknown rare genetic varient. Thank you and God bless ✨