Life with Lachy

Hospital Update #2 - This last week has been bittersweet. And a whirlwind of emotions. Six years of countless testing, all of which were always “normal” (except for his genetic diagnosis in 2019) has left me feeling almost relieved to finally hear that they found something. To finally have more answers. Yet also feeling shattered & heartbroken that we again have a new diagnosis. Lachy’s EEG was abnormal both nights & he was diagnosed with a rare form of epilepsy called ESES - standing for Electrical status epilepticus during slow-wave sleep. Meaning his brain is spiking 90% of the night & basically never “sleeping” while he is asleep. Probable answers for the delayed milestones, constant regressions, & impaired cognitive abilities. Why Lachy will work so hard to learn a skill & then just lose it. Feeling a potential hope for being able to help him & stop this from progressing to active seizures but at the same time also processing this & what it might mean for our future. Big decisions that need to be made are weighing heavy & I am SO exhausted. I can’t sleep, but I also can’t stop thinking, can’t stop researching & can’t stop reading…….. But one thing I can say for sure - with this village we have here & all of the phone calls/texts/messages/comments I’ve received - all the other DLG4 parents who are walking this same path & can advise/understand - I definitely don’t feel alone ❤️❤️❤️

TBT to our “snow day” last week❄️🛷Lachy LOVES eating snow & sledding with his cousins! And they love feeding him snow 🤣 Swipe for video & photo evidence 🤣He won’t keep gloves or hats on so we don’t last long before he’s cold & ready to go. He also won’t/can’t walk back up the hills so we only make it about 4-5 runs before this mama is beat from lugging him up after each one🥵😳But the joy, smiles, laughter & the “normal” child experience he gets to have makes it all worth it ❤️❤️

In honor of National Rare Disease day today I wanted to share the SHINE documentary (link in bio) to help bring awareness to the extremely rare genetic disorder that Lachlan has called SHINE Syndrome/DLG4 related synaptopathy. I am so thankful to the amazing families that made this documentary happen & shared their stories. I was a blubbering mess watching this documentary. Because for the first time I saw other families that are walking our same path in life. People that immediately “get” our life without me having to say one word because they too are living it. My heart ached for these kiddos & their families because I understand everything that comes with a diagnosis like this. While these amazing kiddos are all different - I connected with something from every single story. The comfort from having this community is something that is more meaningful than I will ever be able to express😭❤️😭❤️And the thoughtfulness of including photos of the rest of our kiddos at the end of the film & seeing Lachy’s photo flash, brought me to tears 🥰I often reflect on how Lachlan being apart of this early research and going through everything he goes through, will someday help others with this disease and it is a thought that helps heal my broken heart

My sweet Lachlan 💙Also known as Lachy, Moose, Squeaks, & my Lachlan Monster. Diagnosed with regressive autism & an extremely rare neurodevelopmental genetic disorder called SHINE Syndrome/DLG4-related synaptopathy. So rare in fact that as of now, there are only 77 diagnosed cases in the world. Lachy is nonverbal & while he is currently 8 years old, he has the understanding & independent skill level of a 12-18 month old. But boy is he happy! Happy, affectionate, & has a smile & energy that makes people instantly fall in love with him ❤️