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This letter and the accompanying document A Comparison of Characteristics/Symptoms That Occur in Both Noonan Syndrome (NS) and Arnold Chiari Malformation Type 1 (ACM) is the work of Nancy Naugle. Nancy is committed to sharing her experience and knowledge. Her goal, to help those affected by Noonan syndrome, obtain diagnosis, treatment and care that ensures a better quality of life. Nancy is passionate in her belief, that given the right tools, those affected by these rare disorders will become better advocates. Remember 'Knowledge is Power'! Thank you Nancy for all your hard work. and continued support. Wanda H. Robinson (JAM) Just a Mom President TNSSG, Inc. This information and advice made available through the www.noonansyndrome.org web site is not intended to replace the services of a physician, nor does it constitute a doctor-patient relationship. Information on this web site is provided for informational purposes only and is not a substitute for professional medical advice. You should not use the information on this web site for diagnosing or treating a medical or health condition. You should consult a physician in all matters relating to your health, and particularly in respect to any symptoms that may require diagnosis or medical attention. Any action on your part in response to the information provided in this web site is at the reader's discretion. People with either Noonan Syndrome or Arnold Chiari or both almost never experience the same symptoms/characteristics in the same way. In other words, Each person experiences illness(es) differently than does another person. Therefore, it is possible, if not probable, that a person (who has one or both of these disorders) doesn't experience all of the symptoms listed in this literature.
Written: September 25, 2006 Published: October 18, 2006 by: Nancy S. Naugle
Dear Reader: The attached list is a comparison of characteristics/symptoms that occur in both Noonan syndrome (NS) and Arnold Chiari Malformation type 1 (ACM). Within the small community of TNSSG, Inc. we have found 17 people with Noonan Syndrome who also have a co-existing Arnold Chiari Malformation. There have also been 5 family members of those diagnosed with NS that have either been diagnosed with ACM, Syringomyelia, or both disorders. Some patients with NS & ACM also have a co-existing Syrinx in their spinal cord. Syrinx (a fluid filled cyst) is the proof the disease process called Syringomyelia* exists. Syringomyelia is most commonly found secondary to Arnold Chiari Malformation. Syringomyelia is a disease process that affects the nerves in the spinal cord, and can, quite frequently, be considered more serious than Arnold Chiari Malformation alone. Some of these individuals, who have NS and ACM, have had a decompression surgery to address their condition. Those who have not had a decompression surgery to address their disease could, most likely, continue to experience a progression, and degeneration of their symptoms, which could negatively impact their health. In some individuals, who have ACM, their disease is in an asymptomatic state. The asymptomatic state of ACM will be discussed later in this letter. An MRI is the tool of choice in detecting ACM. The most effective treatment for ACM, when symptoms are present, is surgery at this historical time. Some people, who experience relatively stable symptoms, choose to treat their symptoms with medication (s). The reason that surgery is the most effective treatment is ACM is a problem with space, and medication cannot address this issue. Different surgeons typically use different surgical techniques. There is no cure at this time. The hope, in performing surgery, is to stop the progression of the disease, and it’s symptoms.. Since all of the genes have not been located for NS, and the genes involved in ACM have not been fully located: we don’t know the true significance of this overlap found in individuals with the dual diagnosis. I don’t believe that everyone with NS will also be diagnosed with ACM (or vice versa), but that there seems to be an increased rate at which the two occur in coincidence. I believe there is a reason to be suspicious of a co-existing diagnosis of ACM in a person who has already received the diagnosis of NS if some of these symptoms exist. I made this comparison of characteristics/ symptoms of NS/ACM to help people (or parents of children) gain the diagnosis if they feel the person has a significant amount of symptoms that can be associated with either disorder, and they are not getting the help they need medically. ( I grant permission to TNSSG, Inc to publish this as they see fit, but do not release publishing rights, or re-copying/distributing of this literature (and references) without prior written permission from me (Nancy S. Naugle).) You can, however, use these references to argue your case (or that of a child) with a professional who does not understand that this coincidence can happen. Both conditions (NS and ACM) are still lacking in understanding. Some medical literature concerning these two medical issues is lacking. I tried to document symptoms mostly through medical literature, however, some of these symptoms are undocumented in medical literature. Therefore, I had to resort to less scientific literature (i.e. Reported by people affected by NS/ parents of children who are affected by NS/clinicians and reported by people affected by ACM/parents of children who are affected by ACM/clinicians.). In most cases, in both NS and ACM, these symptoms can be of a non-descript nature meaning the symptom can lack distinctive qualities, or be vague in nature. A majority of these symptoms are subjective in nature. In addition in the case of ACM most of these symptoms can wax and wane, which means that the person can experience them intermittently and not consistently. In the case of ACM most people experience a slow progression of symptoms, which eventually may get to a point where they become debilitating. This is not true in every case, but overall it is a good way to understand the progressive degenerative nature of the beast. There are some patients who experience a sudden onset of symptoms in the case of ACM, but this is an atypical presentation. Therefore, a certain symptom may initially not be an issue, and later on down the road become more significant in the persons life. There are also people, with ACM, who experience no symptoms. This is known as an asymptomatic Arnold Chiari Malformation. In its asymptomatic state ACM is not treated at this historical juncture because it is thought that nerves, and neural (brain) tissue are not being impacted by compression. Compression (of neural structures), and lack of cerebral spinal fluid flow are what is thought to be the causative factor (s) in people experiencing symptoms. An article concerning Syringomyelia in a patient with Noonan Syndrome (written in 1982) was the precursor (read circa 1998) to the first person the group knew about who was also diagnosed with ACM. Later, after the patient with NS was also diagnosed with ACM a few other pieces of literature were found. The coincidence is still not concretely reported in medical literature because documentation (medical records from the people, or parents of children who are diagnosed with NS and ACM) is lacking. If you need other references, have questions, or need me to elaborate further please contact me: nnaugle@comcast.net Thanks for letting me share my research, and thoughts. Happy trails, Nancy S. Naugle diagnosed with ACM in adulthood, successfully decompressed Mom a son diagnosed with ACM in childhood, and co-existing Syringomyelia, successfully decompressed And a daughter (NS) and a coexisting ACM, successfully decompressed
* Syringomyelia (pronounced: seer-in-go-my-eel-ya) – is a disease process that is intangible until a Syrinx (pronounced: seer-inx) is visible on a film. Syrinx is a cavity (cyst) that fills with fluid in the center of the spinal cord, and can dilate width wise or grow in length. It can be found anywhere in the cord even though the most commonly described place that it occurs is in the cervical area of the cord. If a syrinx dialates width wise it can, and often does compromise nerves in the area that it exists. A syrinx can, eventually, paralyze a person who has one if untreated. Typically, once a person who has ACM, and a co-existing syrinx (aka Syringomyelia) is decompressed (has surgery) the syrinx deflates. In some cases, decompression surgery does not allow a syrinx to deflate or dissipate.
PS. If you have documentation in the form of medical records: I would kindly ask that you forward it to TNSSG, Inc (who will then forward it to a doctor, who will write a paper about the coincidence (NS&ACM). All medical documentation, including names, will be kept confidential. Representing the coincidence (in medical literature) is imperative for future understanding of the overlap, and some times necessary for a patient to approach a medical professional about a diagnosis. When medical literature exists it is easier to gain a diagnosis. Future patients THANK YOU for any information you can provide. TNSSG, Inc. is also very appreciative of being able to help future patients, but it is only possible with your help. Thanks for your time, and consideration!
The Noonan Syndrome Support Group, Inc., Thank you for your kindness and generous support! * The Noonan Syndrome Support Group, Inc. is a 501 (c)(3) tax exempt, non-profit organization. Contributions are tax-deductible to the extent allowed by law.
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