“Finding a qualified naturopathic doctor should be considered because the medicine offered will work with the body in a holistic manner and free from side effects.”
Last week I had the rare opportunity to meet a special child, an 11 year old girl named Jazzy. Like most children, she was shy at the beginning but once made comfortable she opened up and was quite talkative. She was slender and small for her age. Jazzy has a genetic condition labeled Noonan syndrome (NS). I must admit, I am familiar with most disease conditions but this was the first time I learned about Noonan. The reason is that many less known diseases have not undergone the necessary research, and doctors struggle in order to properly treat their patients. This mainly has to do with limited funding since most of the popular diseases such as breast cancer and diabetes get the money to grease the wheel while the deadly diseases go underfunded. The problem is that the treatment is more or less experimental. In Jazzy’s case the doctors ignored all the signs and symptoms while her mother was pregnant and this ignorance even continued till her birth. It was not until she was 3.5 years old when they finally pinpointed the specific gene that had mutated which led to complications that could have been avoided.
To better understand the complexity of Noonan Syndrome we need to delve into the known science. NS is genetic in nature and “affects many areas of the body that occurs in between 1 in 1000 to 1 in 2500 individuals. NS is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.”
Noonan syndrome is one of a group of related conditions collectively known as RASopathies. “RASopathies are a clinically defined group of medical genetic syndromes caused by germline mutations in genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) pathway.” Germline mutations mean that they occur at very early stages of embryonic development. Unfortunately this means the RAS pathway mutation can affect organ systems (as they are growing and developing) and this may influence immune organs such as the thymus, the spleen or bone marrow. These conditions all have similar signs and symptoms and are caused by changes in the same cell signaling pathway. As most rare conditions, NS does not have a cure.
I am one that is drawn to the underdog; Jazzy lives with many obstacles that the healthy would not even consider. You would think she would be mean and bitter as a result but the opposite was found: she was kind and caring, a little angel that I felt drawn to hug and help. She is mainly feed by a tube inserted through a puncture wound called a percutaneous feeding tube.
I told Jazzy that I would try to help her. I researched the science of Noonan syndrome from a medical perspective, the treatment was isolated; each obstacle had a symptomatic treatment. The disease was not examined holistically but in parts: for growth HGH, for genetic abnormalities various drugs are offering maintenance with side effects. The medical system is based on the analysis of the finding and treatment of isolated symptoms of the disease condition. Rarely do they examine from the perspective of nutrition or lifestyle—this is because most medical doctors have never been trained on nutrition and it clearly shows how the various diseases are treated.
From the eyes of a naturopath, who sees the body as a whole, the treatment must be holistic, working from the core of disease and following the causal chain. First of all, NS is lack of growth interrelated with genetic and autoimmune disorders which leads to diabetes and cardiovascular disease. It is also protein related as those with NS need plenty of protein with a liquid diet. There is a lack of nutrients such as vitamin C and flavonoids. Within nature we may be able to help with these deficiencies.
Firstly, I would strongly encourage the use of HGH+ homeopathic—it can easily be added to the liquid diet, it works with the body and it is virtually free from side effects. We have nothing to lose and everything to gain.
Next is tyrosine phosphatase which is associated with Noonan’s SHOC2 gene mutation. In nature tyrosine phosphatase is found in the bioflavonoid quercetin. In an isolated study the results suggested that “the consumption of quercetin or quercetin-rich products as a dietary supplement may boost the anticancer effect of type I IFNs or immune checkpoint blockers during cancer immunotherapy, which presents a worthwhile topic for further study.” Giving quercetin would seem to be an obvious choice, but it may limit the ability of platelets to clump; those affected by NS usually have issues with their blood clotting so this must be considered when treatment is offered. Quercetin is an isolated bioflavonoid but studies have shown that if it is included in a flavonoids mixture (diosmin, troxerutin, rutin, hesperidin, quercetin), it is a safe and effective means of managing bleeding from hemorrhoidal disease, so minimal adverse events are reported.
Autoimmune Diseases and Noonan Syndrome
Some autoimmune disorders are associated with RASopathies. Many symptoms can be misunderstood, misdiagnosed and left untreated. Joint pain might actually mean Systemic Lupus Erythematous (SLE)—a common autoimmune disorder in RASopathies—and gastrointestinal symptoms may be Coeliac Disease – an autoimmune disorder that occurs at 10 times the rate in people with NS than the non-NS population.
The symptoms of lupus are similar to NS and they may include:
- Skin rashes (both on the face and body)
- Hair loss
- Mouth and nose ulcers
- Chest pain (as a result of inflammation of the lining of the heart or lungs)
- Joint swelling
- Anaemia (a deficiency in the number or quality of red blood cells), leukopenia (low white blood cell count), or lymphophenia (low platelet count)
- Poor kidney function
- Seizures or visual disturbances (resulting from inflammation of the nervous system)
It is unlikely that one person will experience all of these symptoms but experiencing 4 or more can be considered highly suggestive of SLE. At times the symptoms experienced as a result of lupus (such as rash, pain, fatigue) will become more intense. These periods are called a ‘flare’. Flares are unpredictable and can seem to come out of nowhere. They are often triggered by stress, illness and exposure to ultraviolet (UV) light. Blood tests can confirm SLE; primarily ANA and anti-ENA counts.
I would suggest combining flavonoid mixture with pure Vitamin C. For the help of bone formation genistein and daidzein could be considered, they have properties for protein synthesis in osteoblastic MC3T3-E1 cells in vitro was investigated to determine a cellular mechanism by which the isoflavones stimulate bone formation due to increasing protein synthesis. We use genistein for balancing hormone levels in our Progest Liposome Cream—it is derived from certified non-GMO soy isoflavone and helps with the regulations of hormones.
Because NS is associated with autoimmunity and excessive bile production S-adenosyl-L-methionine (SAMe) should be given since it is a methyl donor and it halts the autoimmune response, treats the inflammation of the bile duct system and protects the liver. Another great option would be adding Thymus Gland with L-Glycine and Thyrodine which is desiccated thyroid gland without the hormones. Autoimmune thyroiditis can be easily treated with thyroid hormone replacement, if it is diagnosed properly. This is why it is important that people with Noonan Syndrome do not dismiss these symptoms as being just ‘part of having NS’.
The suggested treatment has not been tested with NS but they could be considered to bring relief and improvement since they work with the body bringing balance so that the body can cure itself. This is the very opposite to pharmaceutical drugs where each drug has multiple side effects to treat the individual symptoms but they do not bring holistic balance within the body, and as such, the body cannot heal. Nature always finds a better way. Finding a qualified naturopathic doctor should be considered because the medicine offered will work with the body in a holistic manner and free from side effects. Isn’t that a pathway worth taking, especially for a condition like Noonan that offer no cure?
- Corsale, Italo et al. 2018. Flavonoid mixture (diosmin, troxerutin, rutin, hesperidin, quercetin) in the treatment of I-III degree hemorroidal disease: a double-blind multicenter prospective comparative study. International journal of colorectal disease 33: 1595-1600. doi:10.1007/s00384-018-3102-y
- Igbe, Ighodaro et al. 2017. Dietary quercetin potentiates the antiproliferative effect of interferon-α in hepatocellular carcinoma cells through activation of JAK/STAT pathway signaling by inhibition of SHP2 phosphatase. Oncotarget 8,69 113734-113748. doi:10.18632/oncotarget.22556
- Lisbona, Maria Pilar et al. 2009. Noonan syndrome associated with systemic lupus erythematosus. Lupus vol. 18,3: 267-9. doi:10.1177/0961203308094996 https://pubmed.ncbi.nlm.nih.gov/19213867/
- Noonan Syndrom Awareness Association. 2020. What is Noonan Syndrome? https://noonansyndrome.com.au/
- Rauen, Katherine A. 2013. The RASopathies. Annual review of genomics and human genetics 14: 355-69. doi:10.1146/annurev-genom-091212-153523
- Yamaguchi, Miles. 2000. Stimulatory effect of genistein and daidzein on protein synthesis in osteoblastic MC3T3-E1 cells: Activation of aminoacyl-tRNA synthetase. Molecular and Cellular Biochemistry 214(1-2):97-102. doi: 10.1023/A:1007199120295 https://www.researchgate.net/publication/12134871_Stimulatory_effect_of_genistein_and_daidzein_on_protein_synthesis_in_osteoblastic_MC3T3-E1_cells_Activation_of_aminoacyl-tRNA_synthetase
 Noonan Syndrom Awareness Association. 2020.
 Rauen, Katherine A. 2013.
 Tubes that end in the stomach are called gastric tubes or G tubes. The stomach empties toward the right side and into the small bowel. The initial segment of the small bowel (or small intestine) is called the duodenum.
 Igbe, Ighodaro et al. 2017.
 Corsale, Italo et al. 2018.
 Lisbona, Maria Pilar et al. 2009.
 Yamaguchi, Miles. 2000.