Sam came into the world a whopping 10 lbs., 2 oz. and I originally took that as a sign that he was not going to be like the typical child with Down syndrome because from my reading most were born early and they were small. He was only a day early and that was because I was induced and he looked like a toddler when he was born. It should have been my first clue that Sam was not going to go by the book, Sam's journey was going to be his own and he didn't want me to get comfortable with anything written or pictured in a book. Now looking back, how could I have possibly thought that there was a typical child with Down syndrome?? They are all so very unique.
As I researched Down syndrome and tried to understand our new reality I quickly became side tracked as Sam decided to keep me focused on him. He had feeding issues, he seemed to struggle with breathing while he slept. His feet and hands were often so blue or purple that I would hide them in his pajamas so people wouldn't stare. Wow, it was fun finding these pictures again, but take a look at Sam's hands in our Christmas photo. They are perfectly purple. I have really cute kids...don't I??? Okay...so I'm a little biased.
Sam's first year was a rough one with numerous hospitalizations for illness and respiratory issues. He was on antibiotics so many times I lost count. It seemed so hard to keep Sam healthy and breathing correctly not to mention trying to get food in him. Sam loved to eat, but he had swallowing and breathing issues...those two bodily functions didn't seem to work together for him. We had to thicken any and all thin liquids to keep Sam from aspirating. I was awake more than I slept in that first year as I continually needed to monitor Sam's breathing and re-position him as needed to maintain a good airway. My first year I was overwhelmed by trying to understand if what we were experiencing was a result of Down syndrome or something else. This was my first experience with a medically involved child and I was trying to learn as fast as I could. I often got discouraged when I saw other children with Down syndrome who seemed to eat and breathe fine, who seemed to be progressing and meeting their developmental goals.
Our first big set back occurred on the day Sam was baptized. Sam was 1 month old and he seemed lethargic that day and it was more difficult than most to keep his airway stable. Looking back I now know I should have had a pulse ox and oxygen available in Sam's first year but no one seemed to know the extent of his breathing issues. Sam began to have some severe apnea issues where he would have to be physically startled to take a breath. During these times he would turn a bluish gray color and we rushed him to Children's Hospital. The doctor's seemed to be skeptical because Sam arrived awake and pink in color but they quickly took a look at his heart, considered reflux and did a chest x-ray. Sam was admitted for observation and it was when he fell asleep that the episodes returned but now he was hooked up to a monitor and I could see what was happening. Sam would drift asleep and suddenly all of his stats just dropped off and he did not return unless I physically startled him. I called the nurse in and it happened again and this time everyone came running. We were transferred to the ICU and a tube was put into Sam's nose to send a message to the brain that he needed to use this airway. Sam was originally a mouth breather but after many medical tests we found out that the combination of his tonsils and adnoids taking up 70% of his airway uninfected, his floppy airway and extra esophageal fold put him at a huge risk for apnea. It was at this time that we were given a very bleak picture that because of Sam's severe apnea issues that he most likely had suffered a brain injury from oxygen deprivation and his right side was showing a significant weakness. Here is Sam after he returned home.
We did notice that his right side did not move as much as the left and if he rolled over he often lost track of his right arm or leg and they could end up in strange positions. Sam did not belly crawl until he was 19 months old and he did not walk until he was 3 years old and these events only occurred through a lot of work and with the help of NACD. But even through the set backs it was this face and smile that kept me going.
Although Sam's life was filled with medical appointments and evaluations, Ben and Danielle just kept loving him and they were both very protective of him.
After his ICU experience we now had more cardiac appointments as they monitored Sam's ASD. We were scheduled for a swallow study but interestingly the sleep study didn't come about until he was 10 months old. It also is interesting to me that an apnea monitor and oxygen didn't come home with us. Hindsight is a wonderful thing but not much help when you are going through the experience. The swallow study diagnosed Sam with dysphagia or a late swallow. Sam failed the sleep study in spades. The ENT point blank told me that unless Sam had his tonsils and adenoids removed immediately he would become a pulmonary cripple. At 11 months Sam had his tonsils and adenoids removed and I was pleasantly surprised by how much better he and I could breathe and sleep. I know you are all loving the baby pictures, so here are a few more.
Sam at 3 months, already looking forward to his employment at J&H.
Sam at 4 months old, monkeying around.
Sam at 10 months old. Yep, he has always been adorable.
And his 2 favorite people in the world, brother Ben and Danielle.
We had a huge birthday celebration for Sam. I think I was thrilled that he and I made it through the first year.
The next photograph is one of my absolute favorites of Sam and Danielle together.
So, in all honestly, in Sam's first year I was not overly concerned with diet and supplements because I was focused on swallowing, eating and a little thing called breathing. We began with NACD when Sam was 18 months old and it was the first time I had heard about Nutrivene and Ellen Doman had requested that we remove dairy from Sam's diet. In all honesty...I thought Ellen was way off about dairy...I mean we live in Wisconsin...the dairy state?? But as I was soon to learn, she was usually spot on and I had some learning to do. We removed dairy and Sam's congestion went away. I thought congestion was just part of Sam, I couldn't remember when he wasn't congested. The change to raw goat milk, almond milk and rice milk was one of the easiest changes and because we saw an immediate result it was easy to stick to. I had so much to learn and my next dive was into the world of supplementation. I checked out Nutrivene and loved the testimonials. I thought this may be an answer to my prayers and I ordered the powder. At first Sam would happily take it in his applesauce but that ended after about 2 weeks. The other problem I had was that Sam seemed less focused, more stimmy and I hadn't even gotten up to the full dose yet. His skin looked worse with some added rashes and his temperment changed. I quickly figured out that my experience with Nutrivene was not going to make it in the positive testimonial section. I began to realize that once again Sam's journey was going to challenge me further. I still felt in my gut that Nutrivene was a good supplement and I still recommend it to parents that ask me about supplements.
After talking with a fellow NACD mom we switched Sam to Brain Link and Cod Liver Oil and his body seemed to like it. His focus improved and the stimming reduced down to his typical amount...Sam has never completely given up on stimming. It's a dream I have. When Sam was little his stimming was rocking, playing with images out of the corner of his eyes, getting too close to the TV screen and a little bit of flapping or finger play next to the eyes. The stims have changed over the years and he is always very creative with his stimming. He could start out with good play and turn it into a stim.
It was nice to see that in Sam's 2nd Christmas photo, his color was so much better and his hands were nice and pink.
When Sam went in for his 2nd year cardiac appointment we were disappointed to hear that his ASD had not closed on it's own and he would be scheduled for surgery on his 3rd birthday. I jumped into research mode again and found Willis Langford. Willis was a wealth of information and plunged me into the world of nutrition and supplementation. He was the first to talk with me about Leaky Gut. He answered my gazillion questions and tried to desperately teach me about the body's metabolic systems. It seemed very over whelming to me and I felt like I would need a bio-chemist to assist me. We began to give Sam Mannatech supplements. This was our only addition to his supplements and amazingly when Sam went into his 3 year cardiac appointment his ASD had closed and his surgery was cancelled. My mind began to wrap around the idea of helping Sam's body through supplementation.
I joined the Einstein list and I spent a lot of time reading through the archives. I'm not going to go into lengthy explanation on the metabolic cycles regarding Down syndrome because others have done it so much better than I could. Please see:
Basic Cell Biology for Parents of Children with Down syndrome,
Down syndrome is a Treatable Condition, and my all time favorite...
A Hole in the Bucket. I began to piece together things I had heard from doctors, nutritionists, holistic doctors and other parents. Sam continued to have issues with respiratory illnesses, pneumonia and croup. I tried a lot of different supplements but they didn't seem to address these issues. I got excited when I read about a supplement that helped a child on the listserve but I was quickly discouraged when Sam would have the opposite result or even worse side effects. Sam also had skin reactions, behavior breakdown, temper tantrums and side effects to medications that were not expected. I often felt like I was fighting a losing battle.
NACD began to talk with me about changing Sam's diet. Leaky gut came up again and I jumped into my research mode again. So much of what I read pretty much described Sam. I began to wrap my mind around the fact that Sam's diet needed to be addressed. The nutritional supplements would be lost on a system that couldn't digest and use them. I added supplements to address yeast to our protocol (a probiotic, grapefruit seed extract, garlic & oregano oil) and I began to slowly break down Sam's diet. Something Ellen Doman said to me really helped. She told me about the SCD diet but she told me to think of Sam's diet in the terms of fruit, vegetables and meat...as organic and natural as possible. Shop on the edges of the store and skip everything processed in the middle. I remembered hearing that vegetables that grew close to the ground were the healthiest and should always be organic.
I would love to tell you that I jumped in head first and all our problems were resolved. Instead...I struggled...I listened to those around me that said that having something special or off diet once in a while can't hurt....birthday cake...ice cream...a McDonald's Happy Meal. I mean, shouldn't every child experience a Happy Meal once in their life? I thought that if I watched his diet most of the time...I was doing great. Well, I quickly learned that my lack of commitment to the diet wasn't helping Sam in any way. I was still feeding his yeast issues and with the yeast came lack of focus, increased stimming, temper tantrums, hissy fits, bad bowel movements and his bodies inability to absorb and process nutritional supplements or medication. We were still in a bad place and Sam's immune system was still suffering.
I would often jump back on the diet but I learned that dietary changes do not necessarily show immediate outcomes. If I followed the diet for six weeks the changes were often so gradual that having not done this numerous times I could have missed them. I had to begin to realize that this was not a diet but instead a life change. Sam needed me to jump in head first and keep swimming. If I was going to help him heal his gut and improve his immune system I had to be committed to changing his food choices. I needed to let go of the idea that Sam could eat whatever we ate and I needed to really pay attention to giving Sam's body what it needed. It is now easy for me to tell when Sam's system is off. He recently was hospitalized for double pneumonia and a secondary infection and was on 4 different IV antibiotics before they determined which one was best. Sam had an allergic reaction to one of them and minor reactions to the others but most notable was the change in his behavior. He was hyper, stimmy and the gluten free choices in the hospital had too much rice for his system. We needed to get back home and work with the food choices that I knew his system could handle. Being gluten free was not enough for Sam, his system didn't handle a lot of rice well, corn was out, sugar was out. He couldn't handle enzymes but he needed them. His yeast was resistant and one course of supplements wasn't going to do much.
I had figured out that Sam's system did well with fermented vegetables and we love
Little Red Hen and Company products. He eats a scoop of these before each meal and this helps him digest his food better. Sam also has a scoop or two of coconut kefir made by
Slow Pokes a local store in Grafton, Wisconsin. The kefir can be mixed into a liquid or Sam and I can both eat the flavored kefir straight. Another wonderful find was a bread that Sam could tolerate. Most gluten free breads are made with rice or tapioca starch which didn't seem to work well in Sam's system. Slow Poke's brings in a bread from
Deland Bakery which is a vegetable (zucchini) bread with millet.
I didn't really know what to supplement anymore. I would hear about new protocols and give it a try but Sam would quickly show me that he couldn't handle the supplements. Putting Sam on gingko or body bio oil resulted in increased stimming, lack of focus and inattention the exact opposite of what it was promised to do. We tried the Speak supplement for speech with some great initial results but increased stimming and a drop in speech after being on it for a month. His pulmonologist was hoping for the magic pill for Sam that would keep him from going into respiratory distress but everything we tried Sam reacted poorly to. He would become manic on inhalers or steroids. He would break out in rashes from antibiotics. Sam's bottom has had a rash on it for the last 4 years and every time we tried to treat it we made it worse. I noticed other changes too...Sam's eyes are always dilated, his pupils do not seem to react to light appropriately. So think about trying to read when you have been at the eye doctor and they have dilated your eyes. Hmmm....that could be a problem. We also have the added diagnosis of Perthes which in Sam's case is a late stage and has continued to break down his hip even after corrective surgery. So even with the advances and positive things we have seen with his food choices we still were not giving his body what it needed to function properly.
I wanted someone to test Sam and help me figure out what to supplement. I wanted to know why Sam couldn't take supplements that should help him. I wanted to move forward instead of feeling like we are always falling behind or waiting for the next diagnosis to hit. Although this journey with Sam has taken me to more doctors and specialists than I ever hoped to meet in my life I was willing to try one more. In my research on Perthes or AVN I had read about some patients seeing good results with oxygen chamber therapy. Considering Sam had issues with maintaining a healthy oxygen level this naturally caught my attention. A friend of mine told me about a local doctor that worked with a lot of children with Autism. What interested me was the fact that this doctor did extensive metabolic testing, understood the results, understood metabolic systems and disturbances and I hoped that maybe he could help me with Sam. He also knew and used hyperbaric oxygen therapy treatment with his patients.
I met with
Dr. Norman Schwartz and he asked me what my concerns were about Sam. I explained everything I have covered here and showed him each of the supplements I was giving Sam and explained some of the ones I wish I could. He asked me to complete an extensive round of blood tests, urine tests and a stool sample. After we did we set up an appointment to review the test results. I was pleasantly surprised that Sam's pediatrician Dr. Dirk Steinert also wanted to attend this appointment. Although I am no longer a fan of collecting labels or diagnosis for Sam I was happy to see that someone could finally show that Sam did indeed have an autoimmune issue. All of Sam's Ig numbers were low with his IgA and Igm being the lowest. In my research it showed me the possibilities of celiac, respiratory/immune issues...pretty much describing some of Sam's issues. Sam also showed an abnormal thyroid range. Hyper instead of hypo.
The urine test used to complete the Organic Acids Test-Nutritional and Metabolic Profile gave us some more information. Sam has a high yeast or fungal overgrowth (see I told you Ellen is normally spot on). His low HVA levels indicate a lower production of the neurotransmitter dopamine which may be due to a deficiency in magnesium and B6. Low dopamine levels lead to loss of motor control, cravings, poor attention and focus, low drive or energy, cold hands and feet, putting weight on too easily, craving diet soda. Hmmm....pretty much describes Sam. Sam had low VMA levels which can manifest itself with sleep issues and fatigue and are also helped with magnesium and B6. Sam also had a low HIAA level which indicates lower production of serotonin. Low serotonin levels are often attributed to anxiety, panic attacks, obesity, insomnia and fibromyalgia.
One of the areas that kinda startled me was the high level of quinolinic acid in Sam's brain. The range for the Quinolinic test is .48-8.8, Sam's was at 9.1. The range for the Quinolinic/5-HIAA Ratio is less than 2.5 and Sam's level was 12. This high level may be a sign of inflammation or neural excitotoxicity. Quinolinic acid is derived from the amino acid tryptophan and is neurotoxic at high levels. As an excitotoxic stimulant of certain brain cells that hve NMDA-type receptors, high quinolinic acid may cause nerve cell death with continuous stimulation. Brain toxicity due to quinolinic acid has been implicated in Alzheimer's disease, autism, Huntington's disease, stroke, dementia of old age, depression, HIV-associated dementia, and schizophrenia. High levels of quinolinic acid may inhibit heart contractions, cause lipid peroxidation in the brain, and increase apoptosis (programmed cell death) of astrocytes in the human brain. The level of quinolinic acid is also highly correlated with the degree of arthritis impairment. (Yikes, that won't help the Perthes issue)
Treatment of excessive levels can be achieved by multiple approaches: reducing tryptophan supplements, preventing repeated infections and immune over stimulation, reducing the number of vaccines given at one time or increasing interval between vaccinations. (Already doing that) In addition, the drug deprenyl or the dietary supplements carnitine, melatonin, capsaicin, turmeric (curcumin) and garlic may reduce brain damage caused by quinolinic acid. Supplementation with 5-HTP may increase serotonin levels, but 5-HTP is not metabolized to quinolinic acid.
Sam had high ethylmalonic, methylsuccininc, adipic, suberic, or sebacic acids may be due to fatty acid oxidation disorders, carnitine deficiency, fasting, or to increased intake of the medium-chain triglycerides found in coconut oil, MCT oil and some infant formulas. The fatty acid oxidation defects are associated with hypoglycemia, apnea episodes, lethargy, and coma. Regardless of cause, supplementation with L-carnitine or acetyl-L-carnitine (500-100 mg per day) may be beneficial.
Sam's pyridoxic acid (B6) levels were low which may be associated with less than optimum health conditions (low intake, malabsorption, or dysbiosis). Sam's B5 and C level was also low.
In the Doctor's Data urine tests we learned that Sam's calcium was low and needs to be supplemented (Hmmm...could be very important for bone growth, don't you think). Sam's molybdenum was also low which can be linked to an increased allergic reaction to sulfite food additives.
In the Doctor's Data metal toxicity test Sam showed a high level of Barium.
Sam's stool sample show a low predominance of bacteria which is an indication of dysbiosis or the term that originally described Sam, leaky gut.
It felt good to finally put all the pieces together and come up with a plan. So what is Sam's plan???
PH Diet - We will try to daily test his first urination of the morning and check his PH level. Sam has slowly been working his way to the 6.4 - 6.6 range but we will continue to work on getting him to 7.0. Why the need to check his PH. Here are 5 reasons to do so from the Alkaline Diet website. You can also get a simple chart to see
alkaline/acid foods.
Improved Energy Levels
Proper cell functioning is very important to a person’s overall energy level. If the cells are not healthy, they are not as effective at holding and transferring oxygen within the body. This can result in overall fatigue and a lack of energy. The body’s pH level can also affect a cell’s ability to produce adenosine triphosphate (ATP), which is important to the body’s energy level. This process normally takes place within a cell’s mitochondria. If the body’s pH level is too acidic, this process does not take place as effectively.
Healthier Teeth and Gums
When the pH level of the body is too acidic, it stands to reason that the mouth will also be quite acidic. Unfortunately, when the level of acid in the mouth is too high, it can cause bacteria to grow at a much faster rate. Bacteria can cause a number of different problems in the mouth, such as gum disease and bad breath. A high level of acid and bacteria in the mouth will also increase a person’s chances for tooth decay. Many people note an improvement in their overall level of oral health after switching to a diet program that promotes an alkaline pH level in the body.
Improved Immune Function
When cells are healthy, they are effectively able to absorb the nutrients they require. Healthy cells are also efficient at eliminating waste products. If cells become weakened in any way, they are not nearly as effective at these kinds of functions. As a result, infectious organisms have a better chance of affecting these cells. When the body’s pH is too acidic, cells cannot function at their optimal level. This is why a person is more likely to become ill, develop infections, or even develop cancer when their diet is acidic as compared to alkaline.
Reduced Pain and Inflammation
Magnesium is one of the minerals the body uses to help control excessive acidity. If you eat a diet that has an acidic effect, the body is forced to use more magnesium to help neutralize it. However, magnesium is also a useful nutrient in the body that helps to support joint and tissue functions. By eating a diet that has an alkaline effect on the body instead of an acidic effect, your body will have more magnesium available to help reduce tissue and joint pain and inflammation.
Slower Aging
When cells are subjected to an acidic environment, they function much less efficiently. This reduction in functionality can impair a cell’s ability to repair itself, thus resulting in premature aging. Premature aging can also occur when cells are not able to get enough oxygen, and when they are not able to rid themselves of toxins. An alkaline diet can help prevent all of these scenarios. Better functioning cells means a younger appearance for you. Plus, as an added benefit, an alkaline diet program will also help you maintain a healthy weight.
All good stuff and what are we doing for supplements:
B12-Sam receives a shot every third day of 12 units (and no he does not like these)
Nutrivene D-Sam is now able to take the full dose of 15 capsules a day divided in two doses.
Curcumin-4,000 mg
B6-275 mg
Vitamin D3-5,000 IU
Vitamin C-1,000 mg
Megasorb CoQ10-100 mg
Probiotic 55 billion-476 mg
Butter Oil Fermented Cod Liver Oil-1500 mg
5-htp-200 mg
Magnesium-440 mg
Zinc-75 mg
Calcium-300 mg
Garlic, Oregano Oil and grapefruit seed extract for yeast
Colostrum-480 mg
That's a total of 43 capsules a day, 5 drops and orange juice enhanced with a liquid calcium supplement along with a shot in the butt every third night. Sam with encouragement will swallow all the capsules with apple sauce to help them slide down.
I keep track of Sam's PH and all his supplements on the Ipad with a app called Ibiomed which allows me to create Sam's profile, list his allergies, supplements, therapies and journal any issues, concerns or improvements.
So what have we seen since we started. Well we slowly ramped up to the full protocol. Dr. Schwartz did warn me that we would see some yeast die out and behavior issues at the beginning but they would mellow with time and they have. In the first week or so Sam was hyper, stimmy, demanding and a wee bit overbearing but we kept on. Just Sam being able to take the full dose of Nutrivene without side effects was an improvement. Sam's eyes are now working correctly, they dilate and shrink to the light in the room. The rash on Sam's bottom is finally going away. Sam is sleeping well. He is pulling out more words and doesn't seem to struggle as much when asked a question. We still have to work on listening but he is easier to work with. He has good focus, he still says "no" when asked anything but he doesn't perseverate on it.
He is losing weight, hallelujah!!! He started at 128 lbs. and is now weighing in at 123. He is walking more and has less behavior due to reduced pain issues. Does he have any bone growth in the hip??? We will check that out at his next x-ray in a couple of weeks.
But overall...we are making progress. He seems happier and more in tune with his world. For his birthday and Christmas Sam received
KidKraft sets. One is a fire station, another is a construction site and the third is a garage.
Previously we would have had to show Sam how to play with these or he would have had little to no interest. I like the KidKraft sets because they are well built, encourage imaginative play, work on communication skills and utilize fine motor skills to crank up the elevator, or hook on the wrecking ball. What I wasn't prepared for was Sam's appropriate reaction and play. He had the fireman sliding down the pole, going to bed, climbing the ladder and steps and he even had them talking to each other. To most parents that would seem really normal and what he should be doing but they haven't seem Sam do the same thing like drop the guy from the top floor 32 times in a row. Sam is curious about the sets and what you can all do with them. He watches me and then copies me...please keep in mind we used to have to do hand over hand to make this happen. So many things that other parents take for granted just did not happen with Sam...but now they are.
Sam has an interest in coloring and writing letters and words. Sam always liked the TV Teacher.com DVD's but he didn't transfer what he was learning to other areas. The other day he wrote Sam and Dad with his finger on the carpet. Yes, the S was backward but the effort and initiative is what excited me.
Sam decorated the tree I drew. So right now...it's fun...and exciting...and I hope and pray it continues.
We will recheck Sam's blood work in January and tweak as necessary. I am often asked if all this is necessary?? If Sam was healthy and functioning at a good level...I might not have jumped into as much although I would still want to address the extra chromosome and how it causes "overexpression" of genes that change metabolism and function of antioxidants, amino acids, digestive enzymes and other essential nutrients in his body. But Sam was struggling to stay healthy and out of the hospital, his hip was breaking down, his happiness and behavior showed signs of stress, pain and struggle. There was so much about Sam that I was piecing together but I didn't know how to address it. Through the combination of Dr. Steinert and Dr. Schwartz I think we are making progress.
Now I know a question that will come up is cost. Yep, Sam is a kinda expensive kid...although he is worth it. The extensive blood work was run through our insurance by Dr. Steinert. The urine and stool samples and two appointments with Dr. Schwartz brought us up to $1,204.00. I will submit this to our insurance and whatever they don't pick up I will use our HRA account to reimburse. On average a container of each supplement listed would come to a total cost of around $285.00 - $300.00 which would last a little over a month. So a yearly cost of over $3,000.00 in supplements. Add in Sam's NACD program, his organic grocery costs and the dollars begin to add up quickly. We are fortunate that some of our supplements can be put through our Family Support and Waiver programs. We are fortunate to have good insurance and a HRA account. We are fortunate that I can be home with Sam to do his program and keep him on his healthy plan. We are fortunate for so many reasons and Sam continues to make sure I don't take anything for granted.
I went through the holidays feeling empowered that we were doing something. Only time will tell what we will continue to see. I am encouraged but still tentative because I am used to seeing changes and then have them go away or see new side effects that are not expected or wanted. I want Sam to regain full mobility, I want him to ride his bike and enjoy his life. I want him to be healthy and happy.
My intention of this post is to simply share our journey....the positives, the negatives, the struggles and the gains.
When I stand before God at the end of my life, I would hope that I would not have a single bit of talent left, and could say, 'I used everything you gave me'.Erma Bombeck
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