Over the past 72 hours I’ve written and rewritten this over and over. Do I share? Don’t I? How much?
More than once I have felt lost and alone due to the fact that something I was experiencing was rare or unique or simply not shared. In those times I wished that I could find someone who understood, who I could relate to, who could just show me that things are going to be okay.
And so the reason that I share as much as I do is to hopefully help someone else who will inevitably be in my shoes looking for that solace and also because the power in prayer is strong and so we’re to continuing to ask for them.
Yesterday I shared great news that Leila finished helmet therapy but what I didn’t share is that it will unfortunately will be replaced with new appointments and therapies.
For the last 15 months, we’ve been on what’s seemed like a terrifying quest filled with worry.
If you’ve been here awhile you know I had a two vessel cord during my pregnancy with Leila which is seemingly unrelated to most things we’ve seen but was when the real worry began. Through pregnancy I had frequent ultrasounds to ensure Leila was growing appropriately and had no heart or kidney issues. Everything looked okay throughout this time however as soon as 12 hours after her birth we were given reason to worry again.
Since Leila’s birth we’ve been on a roller coaster ride of worry- from thinking she had Turner syndrome, to fears of a growth in her brain, to believing she had lymphedema and thinking her bones weren’t growing. Leila has had numerous tests, most which I think I’ve shared about here in my attempts to educate, provide hope or wisdom for someone else in my shoes and also again to ask for prayers.
Despite negative results to each test, my mama gut was feeling something was off and so after multiple denials and appeals for a test called whole exome sequencing which we believed would give some answers, we were approved for testing in June. The goal here was to see if there was a gene change that was causing these small, somewhat mysterious features in Leila and to see if they came from one of us- ultimately to provide some answers so that we can support her as best as possible moving forward.
On Friday we finally got the call that my mama heart hoped wouldn’t but knew one day would come. While my beautiful girl is perfect in every way, I simply knew something was going on- I just didn’t know what and the tests weren’t telling us until now. Leila has received an official diagnosis of an extremely rare genetic disorder called KBG syndrome.
KBG syndrome by definition on medlineplus.org is a rare disorder that affects several body systems. “KBG” represents the surname initials of the first families diagnosed with the disorder. Common signs and symptoms in individuals with this condition include unusual facial features, skeletal abnormalities, and intellectual disability.
As with all syndromes, there are varying degrees of symptoms and features. Currently what we’re seeing from Leila that fits with and is explained by her KBG diagnosis are:
•Delayed bone growth represented by her Short stature (approx 5th percentile) and tiny feet
•Gross motor delays including crawling (she recently started with the support of physical therapy) and walking which she is not yet doing
•Speech delays as she just recently started saying mama
•Possibly some other facial features
Some symptoms that might be too early to identify as they often present themselves later for some children with KBG:
•Hearing loss
•Intellectual disabilities
•Behavior issues
•Seizures
•Dental issues
For now Leila will continue physical therapy, begin speech therapy, start seeing a developmental pediatrician, have regular hearing screenings and possibly require seeing a neurologist knowing that seizures could be a concern. If and when new concerns present themselves they will be addressed.
Ive spent 15 months plus worried over my girl and the last few days since her diagnosis have been rough to say the least. In a sense I feel relief at knowing what’s going on and what we can do to help support her now but my mama heart is feeling pretty crushed- I’m worried for her future and will pray hard everyday that she does not present with any symptoms or features that will make life more challenging for her. Until then I will do all I can do continue to support my baby girl.
Please be kind, not just to us but to all. If this has taught me anything it’s that we truly don’t know what people are going through and what or why someone might be exhibiting something. Leila may take more time than hoped and is expected to walk and talk and she’ll likely be my little peanut forever but I’m hopeful that by getting her the right supports now that we are moving in the right direction for progress and a hopeful future. ♥️
Visit the KBG a foundation at https://www.kbgfoundation.com for more information.
Xo,
Jess
Work at Home Chaos 