January 28, 2019

18 years and 31 days after he took his first labored breath, we have a diagnosis for my boy.

The genetics department called a couple of days after Christmas to share the news, and I have been reeling since. For 30 days now, I have been down the rabbit hole of investigating KAT6A Syndrome. I waited 16 years for this news. And now that I have it, I’m a mixed mess of emotion. Relieved to finally have an answer. Shocked to finally have an answer, when I was resigned to not ever having one. I’m overwhelmed by the news and the information I’ve been devouring. Gratified to see that I have been providing Braeden with the best options for addressing the symptoms and pieces of this syndrome, with the exception of a supplement cocktail that may help.

I joined a Facebook support group that is nothing short of amazing. For the first time in Braeden’s 18 years and 31 days of life, I am reading story after story about fellow KAT6A parents and children and with tears in my eyes exclaiming “us too!” The camaraderie is uplifting and so much more helpful than I can adequately express. I’m seeing photos of kiddos that could be Braeden at that same age. That hold their hands in the same unique position that he does. There are only 180 or so diagnosed cases of KAT6A Syndrome, worldwide. In a month, that number jumped up from 166 known cases. Braeden is one of the older diagnosed patients. Most of the parents in the support group have younger children. Braeden appears to have a *middle of the road* case. This syndrome affects everyone differently. The severity of symptoms ranges from very profound disabilities, to very mild. I’ve said over and over that I’m an open book because I don’t want other special needs parents to feel the pain of isolation. So far, Everything that Braeden has dealt with, appears to be KAT6A related. The ACM1, apraxia, orchiopexy repair, sensory issues, failure to thrive, low muscle tone, acid reflux…….all of it. KAT6A Syndrome. Within this support group I’ve been able to give parents of younger patients hope that their kids will outgrow some of the symptoms they are dealing with now. I’d forgotten several things Braeden outgrew. Ankle braces, acid reflux, severe feeding difficulties among a few. From parents of the few patients who are older than Braeden, I’ve gotten similar comfort. The main thing being that this doesn’t appear to be degenerative.

The slightly unnerving part of that, is that we don’t know for certain. This Syndrome was only discovered a few short years ago. 2015, I believe.

I’ve chirped about this on Facebook incessantly over the last month. Today I needed to write about it here, to unburden myself of how overwhelmed I am. There are so many moving parts to Braeden turning 18, and this diagnosis is so profound right in the middle of all of those things….today I’m feeling the weight of it all. Today I’m exhausted. And hell, for shits and giggles, my body decided to throw another health crisis for me into the mix. Hello kidney stones, my old nemesis. I passed one during Braeden’s birthday week, and there are 4 more waiting in the wings. Today I have low back pain again, and I am in a cold sweat that another meteor is ready to bust loose.

Today the weight of all of it is heavy.

Today I’m allowing myself some tears, some escape TV watching, and grace for not accomplishing anything on my to-do list.

Tomorrow, I will fill out the research questionnaire online, and register Braeden so that his medical history can be used to further the medical community’s knowledge about KAT6A Syndrome.

Next month, I was gifted airline tickets so I can attend the second annual KAT6A clinic. I’m so looking forward to meeting other people with this syndrome, and their parents who truly understand what this life is like. I think it will be very emotional and uplifting. I’m excited to learn more from the researchers and doctors who are working hard to learn more about it.

For the rest of today…..grace. Giving Braeden a bath. Reading to him for awhile before bed time. Packing his bag to take him to work with me tomorrow. Tonight I will read something that isn’t geared toward finishing the guardianship process, or healing my kidney stones and thyroid and skin cancer. Tonight I will spray my pillow with lavender, and meditate. Tonight I will turn off my brain and sleep. Tonight I will be *brave* enough to *believe* that things are always working out for us.

by Sonia

Read more from Sonia at her personal blog https://andhecallsmemommomm.wordpress.com/