Charli's Story - Part 2

**DISCLAIMER** 

After writing "Charli's Story, Part 1" I received so many wonderful and supportive comments all with a similar message: "Charli is so lucky to have such an amazing mom." While I absolutely appreciate these kind words they made me realize I may need to clarify a couple of things.

One, my intentions of writing this blog and especially Charli's Story was never to portray myself as some extraordinary mom. The purpose of this entire blog is to share my story in hopes of helping other mothers in the same way other blogs have helped me. It was the personal stories that gave me the knowledge and the strength to take Charli's health into my own hands. To empower us as parents. I hope to contribute to the many success stories of GAPS healing children.

Second, I'm really not any sort of an extraordinary mom. I'm just a mom. Any other mom (well most any other mom) given the same set of circumstances, resources, knowledge, and beliefs would do the same. Believe me, if I could have followed the typical course with Charli, I would have. By all means, she was eating organic baby food out of a pouch and organic corn puffs, well on her way to organic macaroni and cheese and chicken nuggets. We, as mothers, love our children. We are constantly striving to do what we believe is best for them. I'm no different. That's it. Back to Charli's Story now.

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Charli is 10 months old and we now have a diagnosis of Kabuki Syndrome. What now? In this part I'm going to cover the medical side of the transpiring events. Part 3 will cover the non-medical events.

So, we read the packet of information provided by the geneticist. It didn't provide much insight other than pointing out some physical features we hadn't noticed and a couple of other common conditions for Kabuki Kids. Because of Charli's already apparent conditions as well as other common conditions with Kabuki we were given several referrals:

• Gastroenterology/Dietetics
• Cardiology
• Ear, Nose and Throat
• Radiology (for spinal x-rays and an ultrasound of her sacral dimple)
• Immunoglobulin studies
• Neurology (possible seizures)
• Annual hearing and eye exams
• Developmental evaluations

By the time we saw the GI and dietitian, Charli was reliant on Miralax and getting worse. I was slowly starting to implement GAPS. The GI recommended Miralax with an initial "cleanout" followed by a daily dosage of 2 teaspoons for 6 months repeating "cleanouts" as necessary. They said Miralax isn't absorbed by the body and is completely safe AT ANY AMOUNT as needed. The dietitian was open to GAPS but expressed concern that the diet may lack in sufficient B vitamins, vitamins A, D and E, calcium, and fiber. She also recommended we find a GAPS practitioner to help monitor and guide us if we do decide to implement the GAPS diet.

The cardiology appointment revealed an Atrial Septal Defect (ASD) and Tricuspid Valve Stenosis. We would follow up again in 3 months (and then again in 6 months and again in 12 moths). She may require surgery when she is older with the procedure for the ASD being non-invasive and pretty standard. If she requires surgery for the Tricuspid Valve Stenosis it would be more invasive and would likely need additional surgeries as she grows.

I asked for the referral for Ear, Nose and Throat because Charli's palate was clearly abnormal. It's very narrow and high arched. We always said it looked like a snake's mouth - seriously! They looked at her palate and said it was abnormal but not cleft. They advised us to monitor her speech and if we have concerns to consider following up with a speech pathologist for VPI (velopharyngeal insufficiency) evaluation. They also recommended routine hearing and vision assessments. As I write this today her palate and other oral defects are weighing heavily on me. I'm quite certain she has a lip tie and a tongue tie which I'd like to have corrected. This is something that is likely affecting her speech but could also be affecting her eating and later could affect her oral health and teeth alignment (lip ties cause gaps in the front teeth). I'm also pretty certain that at some point she'll need a spacer or something to fix her high palate.

The ultrasound and spinal x-rays took us for a real twist. While her spine and sacral dimple seemed to be fine, a couple of other things showed up. She had a broken collar bone (say what?!) and hip dysplasia. Her collar bone, we later figured out, was a congenital condition where the bone never fused together.It's called congenital pseudarthrosis of the clavical. It doesn't seem to affect her in any way, so we're leaving it be. For her hips we saw another specialist, a genetic orthopedist. They took more x-rays a few months after the first set and determined that the dyspasia wasn't closing up and she may need surgery later down the road, probably around school age - you know, about the time she  might need heart surgery. Maybe we can do both at the same time and get a discount! I kid. I kid.

Her broken collar bone

She got blood tests for immunoglobulin studies. They came up slightly abnormal but they said it was pretty common. After several attempts to schedule an appointment with a specialist I gave up and decided GAPS was my answer for that anyway. No need for more needle poking and trauma.

We did a couple of MRI's to see if we could determine a cause for her nystagmus. This was a TRAUMATIC endeavor because she had to be put under general anesthesia which meant she had to be given an IV. When she was hospitalized for RSV they did her IV in her head cause they couldn't get it in anywhere else. For the MRI they at least were able to avoid doing it in her head and after much prodding managed to get it in her hand. Of course she was hysterical the entire time. The MRI didn't reveal anything that clearly indicated a reason for her nystagmus but they did find a small mass, likely a Rathke's Cleft Cyst. We would return a year later to check on the mass. That time the IV went in her neck (awesome!) and brought the good news that the mass hadn't changed. Yay! One victory!

We saw the neurologist once again for an EEG to check for seizures which are common for Kabuki kids. It also seemed like Charli was experiencing Petit Mal Seizures. She would stare off into space and be non-responsive for about 15 seconds and when she would "come back" she'd get kind of upset. She also would have these crazy, full body tremors or shivers. Her EEG Came back negative although I continued to see what I still consider to be seizures well into doing GAPS. Through GAPS I'd learn that seizures are the body's way of dealing with toxins in the brain. Once significant healing had occurred her seizures stopped. Every so often I will think that she has one. It's certainly possible as her body continues to clear out the toxins built up in her body.

She had her hearing checked and it came back normal. She had a follow up with the opthomologist with no changes. Yay for a few more victories!

Once we were well into our GAPS journey we visited a naturopath that was GAPS certified. She ordered some lab tests and made several recommendations which I will cover in another post.

After all of these appointments we now have a good picture of Charli's health and conditions. We will continue to keep an eye on specific concerns like her heart conditions, dysplasia, brain mass, vision, and hearing. However, I'm trying to keep these visits at a minimum as they cause much stress and anxiety for Charli that seem to have a lasting effect. Eventually I hope to help her overcome these anxieties with different modalities like craniosacral therapy and NUCCA. Until then, I'm trying to limit the exposure to stressors and my focus will continue to be dietary intervention with GAPS.


To be continued....