You know if I’m dusting off the blog, it’s time for a pretty major update. But it’s major in a way that’s not really major at all. It doesn’t change anything in our day to day lives, but we have been seeking answers to Stevie’s health mysteries for quite some time. In that sense, an answer feels good.
If nothing else, we thought it would also be nice to have a support group or at least a nod toward the direction we should go when choosing therapies and doctors. Sure, we’ve always been going SOME direction, but mostly everything we’ve done to help him has been a shot in the dark.
I don’t have a lot to say about the diagnosis. YET. I’m definitely still processing what it means. In fact, I haven’t even really googled it. I’m simply letting it sink in. I’ll tackle the emotions later, when I’ve recovered from all my summer emotions. The ones that make me feel like an utter failure at parenting. Summer is hard for us. You know already. So, one thing at a time.
Stevie has been diagnosed with…
I feel like we need a drum roll or something here! Go ahead, do it at your desk or wherever your sitting.
…
Baraitser-Winter Syndrome.
DEEP BREATH.
It feels weird saying it out loud. Probably because I haven’t done all that important processing mentioned above.
So I don’t know a ton about the syndrome, other than it’s genetic. And I don’t know a ton about genetics, but I will tell you neither Paul or I carry this gene, or anything that would cause a genetic disorder — it’s just a fluke, random, mutation to the ACTB gene.
And here’s the kicker. Stevie is one of >50 people who have this syndrome. And (wait for it) he is the ONLY recorded human with this specific mutation to the ACTB gene…
Did you catch that?
The only recorded person in the world with this specific gene mutation.
He’s one in a million! Errr… 7 billion! I don’t know whether to laugh or cry. (I’m crying.) And I’m hereby calling it Stevie Syndrome. I mean, why not.
So he got the Baraitser-Winter diagnosis because it’s the closest thing they can find, and they have to call it something. There are two types of BWS and when you google photos you can see the differences between the two are mostly physical. And you will also notice that all the kids in those google photos look quite happy, don’t they?! That gave me pause when the doctor pointed it out. I’m glad she reminded me in the moment how important that is.
The symptoms that he has that match BWS are ptosis (droopy eyelids), the heart defect (even though his defect isn’t typical for BWS), and the learning disability.
And that’s where we’re at! So obviously, we have plenty more to learn. We have to add a few doctors to our repertoire. I have to get cracking to get him more therapy, now that our insurance will cover it. And we already joined a tiny support group on Facebook to see how other families manage the diagnosis.
Normally I would insert here: long speech about what’s really important, self deprecating joke, and clever punchline. But this is really it. For now.
Thanks for checking in.
loves,
jaana
Hugs!!
Numbers 6:24-26 (KJV)
“²⁴The Lᴏʀᴅ bless thee, and keep thee:
²⁵The Lᴏʀᴅ make his face shine upon thee, and be gracious unto thee:
²⁶The Lᴏʀᴅ lift up his countenance upon thee, and give thee peace.” — Numbers 6:24-26 (KJV)
You’re doing great. Just keep loving that little boy. You are awesome.
I love you, Jaana. I love your honestly & that, while you really don’t know what to say, you’re saying what you can. I think the way you ended the post is perfect. Sometimes life & emotions aren’t tied up in a bow for a pretty presentation. They just aren’t. And that’s ok too.
I just want to reach out and say yes, you’re not alone, I mean, you’re Unique officially! But yeah, not alone in special needs parenting. And all the attendant shifts of understanding, of identity, of view of the future, etc that go with it. Warm thoughts your way, sister.
I am so glad now you can get additional assistance! It’s so sad we have to have a title in order to get the real assistance a child needs. I am always making sure we are doing the appropriate therapies for William and that goes hand in hand with new specialist appt’s and exploring the possibilities. So happy that you have made a steps forward in the knowledge bucket!
Finding that diagnosis can bring a sigh of relief but also new challenges.doesnt it seem like we experience things in the middle of other seasons of difficulty (ie summer)? I’m thankful you have a name to hold on to because that can bring some comfort. Community is SO important and I’m glad you have connected with other parents—can’t technology be the most unique blessing? I’m sure your sole is weary, mama. I follow GraceLaced on IG and her watercolor art and stories give me a sense of peace. I just prayed for peace that passes all understanding for you ♥️
I fiind you three inspiring❤️
Love and hugs to you and Stevie ❤️❤️❤️
Wow. That is a lot to process and a lot of emotions. Know a random stranger halfway across the country is sending you loving and supportive vibes 💗
You are amazing for all you have to learn, I hope that an actual diagnosis brings you peace.
Sending you guys so much love! It must feel good to at least have a diagnosis to write on insurance forms and get more coverage. He truly is a unique and precious baby.
I’ve so glad you have gotten a name. Diagnosis day brings so much power and yet at the end of the day our kids are still the same as they were the day before.
Hopefully you can get some more answers, support, and ease with insurance.
And also thank you for sharing your journey. I’ve been following you for 3 years and when I saw your insta story that Stevie had finally gotten a diagnosis I had to jump straight over!