Year 1: Looking for answers
My last blog was in April of 2022. The very next month we welcomed Erin into our lives! That’s right, we have a two year old now! Of course our family and friend community on social media know but, the blog itself has no trace of our spicy Gemini. So why is that? Well, it’s been a wild ride that I will try and play catch up with.
Erin was born and going from two to three was sooooo hard and chaotic; by far harder than going from one to two. AJ was (and still is) going through hormone preteen stuff, Lucina was/is blooming into her artistic personality who wants to do all the things by her self now that she’s older, and little Erin was just that, little.
The first year of Erin’s life can be summed up into scheduling specialist appointments and early intervention. It was us constantly meeting a doctor of all fields to “check the box.” When we weren’t at a specialist appointment we were at therapy.
Sweet Erin started early intervention around five or six months, had double eye muscle surgery at eight months, and followed by what felt like endless appointments.
At her one year well check, she was officially labeled Failure to Thrive, and I cried on the way home. We had a booked schedule to find answers for why Erin was having such a hard time blossoming into her gross motor skills and weight gain. She was a stagnant 17lbs from 8months old until nearly two. Now six months after turning two, she is 24lbs.
At the time, our main concern (once her eye surgery was completed) was getting her seen by her neurologist and getting an MRI. Her brain scan and lower lumbar came back clear, so cerebral palsy was ruled out. This was around her first birthday.
From neurology we moved on to GI and nutrition, Genetics, and physical medicine.
GI and Nutrition was an absolute disaster. I cried on the way home from that appointment as well because I just didn’t feel heard. More or less, they told me they could give me laxative to treat Erin’s constipation, literally put more butter on her food, cut her afternoon nap to feed her a meal, and to supplement her meals with PediaSure.
I was also told nursing her past one wasn’t that beneficial. That right there solidified me not returning. I went home and canceled the follow up and told her other doctors I wouldn’t be returning for follow ups there. I left devastated and feeling like a failure. I hadn’t felt that way since the doctor who diagnosed AJ more or less shamed me!
Anyway, after I checked the GI & Nutrition box, we were off to Physical Medicine. Erin is already one and a half by this point. Physical Medicine was in charge of examining her muscles, taking into account her delays, come up with possible paths of intervention and diagnosis.
We were told that Erin had hypotonia in her trunk (which we had already known) and that her leg muscles were showing signs of spasticity and had hypertonia (locked tight). Erin has what we like to call ballerina feet. She is always locked out tight. Her comfort spot for her feet is to have them locked pointing away from her body, therefor her ankles look like they are bowed inward when she walks.
One month prior to this appointment she had just received her SMO braces to help stabilize her while walking and to promote proper weight distribution during standing. At 1 1/2yrs old, she still was not walking and unable to stand (still can’t walk/stand unassisted) so a Stander, a piece of medical equipment used for helping kids stand and distribute weight was suggested.
Her therapists were so amazing and every session she was in the stander to help with building her standing endurance and get some weight distribution into her hips to ensure they develop properly. Did you know when your baby starts walking, that weight bearing in the hips helps them develop?? Super cool! Erin wasn’t placing any weight into her hips so that was something her therapist attacked right away.
Little by little Erin’s endurance soared and she started using a loaner walker. She seriously has the best team! Erin LOVES the walker so we were able to get her one of her own from insurance. I actually got the last part of it today to help with stability and pelvic support when she walks!
Year 2: Getting Answers
Back to the boxes. The last box to check that the neurologist wanted us to do was genetics. We went in August of this year and had a two hour appointment. We started off with lots of family history intake and questions that went down to the core. By the end of the appointment we had a plan. We were going to do a baseline of genetic testing from blood work.
If nothing popped up, then we were going to submit a request for a more intense and thorough testing based on her symptoms. A lot of times insurance won’t approve those until the baseline test is done. **Please keep in mind this is just me trying to rehash very profesional lingo so I won’t have the accurate names of what was requested.
In September Joe, Erin, and I submitted our genetic swabs to the lab.
While we were waiting for results, we added two more specialist to her team. Erin started bruising a lot and with some family history, we had to get her seen by hematology to rule out blood related diseases. Thankfully, she was cleared.
While we were waiting on labs, our Genetic doctor had us go to cardiology to get a base line of her heart. This was to make sure that her small stature and delays weren’t related to a possible weak heart. She has a benign spot on her heart but it’s something many babies are born with that goes away on its own. Those who’s spot doesn’t resolve on its own, like Erin, can live with a healthy heart and don’t even know about it unless they get a cardiograph. In the end, strong heart!
It’s November now and we finally received answers from her swabs. I kind of knew that we would have news because of the sense of urgency in scheduling the genetics department had when calling us. It was not a “hey mom, tests are clear, let’s come in after the holidays to talk about other options.”
We got a call wanting to schedule as soon as possible.
We had our genetics appointment this past Monday for our spicy Erin (now 2) and she has officially been diagnosed with CTNNB1.
“CTNNB1 syndrome is an extremely rare genetic neurodevelopmental disorder caused by changes (pathogenic variants or mutations) in the CTNNB1gene” (NORD, 2023).
In my reference it was said that in 2023 there were 300 individuals world wide but the organization I found called CTNNB1 Connect & Cure, their updated data says 430 world wide for 2024. For that reason I just labeled the blog Less than 500.
And yes, you read that correctly. Those stats are WORLD WIDE. Erin is apart of such a rare community! It is believed that there are many misdiagnosed and undiagnosed individuals but even then, the numbers would still be low.
“As molecular genetic testing becomes more widely used, it is estimated that approximately 3 individuals in every 100,000 births may be affected by CTNNB1 syndrome” (NORD, 2023).
So let’s get to the details. I don’t want to quote the entire article so I’ll paraphrase and of course add the links for you to read.
Individuals who have this syndrome deal with delays that range from mild to severe. There can be delays and hardships in speech, gross motor, fine motor, intellectual challenges, emotional regulation difficulties, hypertonia, hypotonia, eye issues like strabismus, potential retina issues, microcephaly (small head), difficulties gaining weight and growing in height among other things.
Almost every single box has been checked when lining Erin up with this diagnosis. Our sweet girl is in speech, OT and PT to tackle her muscle weakness and speech delay. She also had an extreme case of strabismus which led to her double eye surgery at eight months. Small head? Yup, Erin was/is being watched for that. Trouble gaining weight and growing in height? Yup. Turns out it wasn’t her afternoon nap and lack of butter in her food.
So what now??
Besides finding a potential retina specialist if her current eye specialist is not comfortable continuing care, (she’s amazing but retina is not her specialty) nothing will be changing for us.
Joe and I won’t know how much help Erin will need intellectually, but we will approach her needs the same way we do with AJ. Just for those who may not remember, AJ is on the Autism Spectrum and requires a good amount of oversight in his daily living. He also has Apraxia and is nonverbal.
Nonverbal is a possibility for those with CTNNB1 but thankfully we know how to navigate that, thanks to our experience with AJ.
Having the hard talks under our belt because of our first child, has significantly prepared us for processing this diagnosis for Erin.
We do not feel swallowed in fear, instead we feel relieved to FINALLY have an answer. After two years of specialist appointments and endless therapy sessions and questions, we can finally sleep knowing the reason why our sweet girl has her challenges.
I have already found an amazing support group to learn from and I look forward to learning and sharing more about rare diseases and disorders organically.
I am not looking to become an expert in this right now. I may feel settled in my soul having the diagnosis but I am not ready just yet to dive down that path. I am surviving with my three wildly different kids and their schedules and I pray guidance will find me along the road as I approach their needs in life.
If you made it this far, thank you. Sharing my kids is very personal and not something I take lightly. As they age I am not sharing much just because it’s a lot to juggle but I hope to bring the blog back to life little by little.
Before I close this out, here are a few things that make Erin’s world spin. She LOVES music, her keyboard, the movies Encanto and Wish, HATES Disney World Attractions but loves to people watch, she can chow down on some food and someone give her a full breakfast because a bowl of cereal will not do. She adores Sesame Street, will be best friends with anyone who helps her walk, and she stares into your soul when she first meets you. She also has an unhealthy relationship with her paci and loves to eat fruit.
Before I forget, one cool fact I learned from the support group is the symbol for CTNNB1 is the dragonfly. I thought it was pretty cool.
Until next time,
Suhay
References
https://curectnnb1.org/ctnnb1-syndrome/
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