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Wednesday, August 27, 2014

Why I Won’t Do the Ice Bucket Challenge

Given the exponentially growing trend of ice-bucket challenge videos popping up, I’m sure many will disagree with me on this, but if called upon I will not do the ice-bucket challenge.

It's been quite a phenomenon and I appreciate the awareness this has brought and I’m sure those with ALS appreciate the support. But what does awareness accomplish and what do the funds support? I personally don’t know anyone with ALS - probably because a very small percentage of the world has it. There are many diseases and disorders afflicting a growing number of our population, some more debilitating or deadly than others. Despite that I do not support fund raising for organizations such as Susan G. Komen, The American Cancer Society, Livestrong, The Heart Association, or The ALS Association. 

You might ask, “How is that possible? How can you be so selfish? Don’t you support anything?” Part of my reasoning for not supporting these causes were eloquently captured in this article. Even more so, I believe that the declining health of our population is the outcome of a few controllable factors manifesting itself in different forms of disease and disorders. I think it can all be traced back to our food, our pharmaceuticals, and our environment. I believe that if you want to make real change and help fight diseases – all diseases – we need to support changes that protect not only ourselves but our children and generations to come. That being said, I don't want to put my money toward research conducted by pharmaceutical companies to create more drugs that only cover up the problem, sometimes creating even more damage, all while profiting from it. Billions of dollars go into cancer research not only from the aforementioned organizations but also from our government yet little progress has been made. While alternative, natural therapies that have been shown to be very effective in fighting cancer such as Gerson Therapy do exist the American Cancer Society doesn't support their practice (perhaps because there isn't much profit in a natural cure??).

With information and recommendations changing everyday, not to mention ongoing controversies of various health topics such as vaccines, it is clear that scientists don't know everything. It is now coming to light that saturated fats are not the culprit of heart disease and are in fact essential to our health. I think we'll see a lot coming out in the world of epigenetics that will connect our diet and toxic load to varying conditions seen in our children. There are studies that indicate our grandparent’s exposure to toxins could be affecting our DNA. New articles are coming out everyday (examples A, B, and C) about the importance of our gut bacteria and how they directly affect our immune system response (think eczema, allergies, arthritis, diabetes, thyroid disorders, MS, and ALS).  Our diets, medications, and sterile environments are destroying these essential microbes. And I predict we'll be hearing a lot more about toxins such heavy metals, chemicals, fluoride, and pesticides being linked to cancer, autism, Alzheimer's, etc (see this article).

My daughter has a genetic disorder known as Kabuki Syndrome. Piggybacking on the ice-bucket challenge concept, there is now a singing challenge to raise awareness for Kabuki Syndrome. I love watching the videos of these beautiful kids and their loving families singing their songs. I'm battling internally with the choice to not participate in something that hits so close to home. But again, what does bringing awareness to one condition accomplish? While I personally connect with those families also affected by Kabuki Syndrome and I want to support them as part of my Kabuki Family, I don’t feel that bringing awareness to this one rare syndrome is going garner the type of change I'd like to see.

While raising awareness for one single disease such as ALS may seem like a worthy cause, what are you really accomplishing? But what if we could raise awareness for all diseases and disorders as a collective whole. One against big agriculture. One against the use of pesticides. One against exposure to toxins. One for a change in our food system. One for supporting local farmers. One for regaining control of our health. One collective whole thinking freely and standing up for our rights. 

So no, I won’t be dumping ice on my head in support of ALS awareness. Nor will I don a pink ribbon for breast cancer awareness. You won’t even find me singing a song for Kabuki Syndrome awareness. What you will find me doing is spending exorbitant amounts of money on good, high-quality food (that is more expensive because it is not subsidized by the government like Big-Ag). I will vote against Monsanto and GMO foods. I will avoid drugs and vaccines. I will buy water until they stop adding fluoride. I will put my time, money, energy into things I believe in not because I’m being pressured with guilt by social media outlets but because I believe it will bring true health to me and my family and hopefully bring about real change in our global health.

But maybe you don't agree with me. So I challenge you, don’t support causes just because someone called you out on Facebook. Think for yourself and support whatever cause you connect with.


I CHALLENGE YOU TO THINK FOR YOURSELF  AND 
PUT YOUR MONEY WHERE YOUR HEART IS.

Tuesday, August 26, 2014

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.

*****

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....






Sunday, January 12, 2014

Charli's Story - Part 1

My beautiful, thriving daughter Charli is now over two years old. It has been a challenging two years and she wasn't always thriving. It took until Charli was 10 months old for her to be diagnosed with Kabuki syndrome but the first sign came at our anatomy ultrasound around 20 weeks gestation: She only had one kidney. 

I'm generally not one to over worry about things. She otherwise seemed to be healthy and the one kidney was functioning fine with plenty of amniotic fluid. That was all I needed to know. Hippie Husband took a little longer to come around to this mindset, but eventually he did. They monitored my pregnancy closely with regular ultrasounds (also to make sure there was indeed only one kidney). I did have Braxton Hicks contractions which did land me in the hospital once. This prompted regular stress testing. All of these came out fine.



I had an uneventful vaginal birth at full term. She was a healthy 7 lbs 2 oz, 19.75 inches. Her head was tiny (which we knew from her ultrasounds) but everything else seemed to be normal. There was a little bit of meconium in her amniotic fluid when my water broke, so they monitored her a little more closely for signs of distress. Mostly they monitored her temperature and blood sugar levels which had to reach a certain level before we could be released. Otherwise they would make us feed her formula. Thank goodness, we escaped that although she did seem to struggle with breastfeeding. Her body temperature also got a little low so they had me hold her skin-to-skin (why don't they have you do this anyway - noted for next time). She failed her hearing screening. They assured us that was very common, especially with vaginal births and with girls. We scheduled a second screening for two weeks later (which she did pass, just barely) and off we were, one happy family of three!

Although I was new at being a mom, I felt like I had a good idea of what I was doing going into it. You know, I have three nieces and all my friends have kids. I know what to expect. Oh, wait, it's true what they say - "Every kid is different." My kid had a hard time breastfeeding and at her two week check up had lost nearly a pound. I was told I had to supplement Charli with formula to get her weight up. I cried. She guzzled down the formula like she was starved. I cried some more. I had been starving my baby! I quickly requested to have a breast pump. Apparently there is an art to pumping just like there is to breastfeeding, and, let me tell you, I have no artistic ability. But I did manage to pump until she was five months old. We'll get to that later. 


My kid also didn't sleep very well. She wasn't colic but she kind of was. I shrugged it off. I mean, babies cry. That's what they do. But something wasn't right. Now that she was getting a full tummy she started throwing up quite frequently after eating. Her doctor said she has reflux and prescribed some Ranitidine (Zantac). This seemed to help for awhile but eventually we'd switch to another medication to see if that worked better. She also started to display signs of stomach pains and was starting to get constipated. I decided to take her off of the  medication since it didn't seem to be helping much and I felt like it was causing her the other issues. So I did what I could following the advice to feed smaller amounts more frequently, wait to lay her down after eating, and elevate her head. We managed ok. Every so often she'd projectile vomit EVERYTHING up and everyone would have to change and we'd have a big mess to clean up. The worst was always when it happened in the car. I'll never forget the time I was with my mom. She of course thought Charli was dying (not literally but you know what I mean). It was the middle of winter and in the evening. I had to pull off the road and get her out and of the car seat and comfort her. Understand, when she threw up, it came out of all openings. It's really unsettling to was a bunch of milk come out of your baby's nose while she gags and sputters like she can't breath. As she writhes in pain, scared I imagine since it probably feels like she's drowning. It's extreme and unusual, but after so many times of it happening, I was used to it. It was our normal.


I returned to work when Charli was only 2 months old. I continued to pump. It was difficult. My milk production wasn't all that great. I realize now that it was probably due my diet lacking in sufficient calories combined with my stress and lack of sleep. It's hard to eat enough and get enough sleep and not be stressed when your baby doesn't sleep and is never happy without being held. It felt like I was constantly attached to a machine. Even in the middle of the night. In between when she woke every two hours. I remember bottle feeding her in a stroller while I pumped. It was awkward, but I found some magical way to make it work.

As she got older I noticed she had very jerky movements. Her arms were constantly flailing. At 4 months old my aunt pointed out Charli's eyes. When it's your own child and you see them everyday without seeing other children at the same age you tend to overlook or miss oddities. At least in this case I did. Her eyes had a constant movement and she wouldn't look at you or focus on much of anything except lights. She loved bright lights. At her 6 month check-up her pediatrician immediately said we need to have her eyes checked. Apparently she had noticed it at 3 months but wasn't sure. At 6 months it was unmistakable. The eye doctor diagnosed her with nystagmus, which is really just the medical term that describes the eye movement. It came at no surprise as I had already done my research and basically arrived at the same determination. The cause was the real question which of course he could not answer. He said her vision was limited but he would be unable to determine to what extent it was impaired until she was older. He referred us to a neurologist and we went back to our new life.


Remember how I said earlier that I stopped pumping at 5 months? That's when Charli started getting formula, completely being on formula by 6 months. Charli was just over 6 months old we spent Valentines Day in the hospital while she was treated for RSV. I didn't give it much mind at the time, but it's very significant to me now as well as the fact that she lost her hair at this time. It happened gradually and again I overlooked it. As I look back at pictures now, I can't believe this wasn't alarming to me or anyone else. She also soon started to show clear digestive issues with constipation becoming a real concern.

Her development progressed, only mildly behind on milestones. Nothing unusual or notable. She was rolling over by 7 months and sat on her own by 9 months. It was also about 9 months that she got an ear infection which of course she was prescribed amoxicillan for. Shortly thereafter she another respiratory infection. The doctor assured us this was common following an RSV infection and they prescribed albuterol nebulizer treatments. Somewhere around this time we also started giving her Miralax as recommended by her doctors to combat the constipation.

This was also about the time we finally got in to see the neurologist. At her consultation the doctor pointed out that Charli had low muscle tone, or hypotonia. She ordered an MRI to see if we could find something that could be causing the nystagmus. She also suggested we see a geneticist.

On June 14, 2012, the geneticist diagnosed Charli with Kabuki Syndrome. She based this on her medical history and certain physical characteristics such as high arched, broken eyebrows, long eyelashes, large palpebral fissures (large openings of the eyes), flat broad nose, a protruding ear, fetal finger pads (the pads of her fingertips are conical or come to a point), short pinky fingers, high arched palate. Her diagnosis would later be confirmed by a blood test that stated:

This patient was found to be heterozygous for the above described alterations in exons 4 and 34 of the MLL2 gene. The p.W141X alteration in exon 4 has not been previously reported in the literature; however, given that it is a truncating alteration, it likely confirms a diagnosis of Kabuki syndrome. The p.R2860H alteration in exon 34 has not previously been reported in literature, thus its clinical significance is unknown.

When we received this diagnosis, I will never forget the doctor saying how sorry she was and how "this is always the hardest thing to have to tell parents." With her serious tone Hippie Husband and I both kept waiting for some bomb to drop like she only had 6 months to live. All she told us was that she'd have some developmental delays. Well, we already knew that. With her hypotonia and nystagmus we were already anticipating developmental delays. This time we were sent home with a packet of information, resources, referrals, and lots of unanswered questions.


To be continued...