My Medical Team – As of September 2009

Dr D. Richardson – Langley BC – Family/General

Dr Zwimpher – Vancouver BC – Neurosurgery

Dr. Michael Boyd – Vancouver BC – Neurosurgery

Dr Robert D. Keyes – Vancouver BC – Neurology

Dr. Michelle Johnson – Vancouver BC – Endocrinology

Dr. John David Todd – White Rock BC  – General Sugergy 

 

Annual Cancer Screening

This has been done and sent back to the lab – we are praying for another year cancer free.

April, May, June and part of July 2009…….

As most of you know, Michael has 2 surgeries in the past 7 months. NF1 was removed from C2/C3 of the spine and NF1 was removed from the left clavicle.Post op went well but was pain full and tiring. On April1 2009 Michael was forced back to work by his LTD Insurance company and tired his best for 3 weeks. At this point it was clear that this was not the proper way or right time to return back work full time.

In the mean time LTD had cut him off of his disability income and he was struggling to get back on it – not a easy task. After numerous calls with RBC (LDT policy holders) and NUMEROUS Dr appointments and a self paid examination($300.00) from a OT, PT and KIN team – it was determined that he is to take more time off for recovery and that his disability is now officially permanent. After a few sleepless months we finally got his LTD disability reinstated.

We manged to survive with the help of church, family, friends and Yeshua!!!

M & H Martin

Heal me, O LORD, and I will be healed; save me and I will be saved, for you are the one I praise. Jeremiah 17:14 ~

We have a new addition to our family…..

after many years of enjoying cats in our home, the last one died about 3 months ago. We were deeply sadden by the loss. Shadow will be missed.

Now fast forward to June 28 2009, we had been looking for a new addition to the family. And started thinking about getting a dog this time around. Michael had been home on disability now since April 21 2009 and I was was only working part time. Michael wanted to wait at least a year before adding another pet to the family, but my heart was set on finding a Shih Tzu. Friends and family have this breed and we really enjoyed the spunk and personality ofr the breed.

I was looking daily on craigslist, kijjji and talking to family and friends about finding the perfect puppy. At the end of June I found 2 dogs that I wanted us to meet. The first one was very strange and could not bond with either of us nor would she listen to her master. I knew this was not the dog for us. We came back home and I went back online and found the cutest black and white 4 month old Shih Tzu and we arranged a meeting with the owner. Immediately there was a bond and we knew that this was going to the dog for us. After some negotiating and goofing off with the pup we brought him home with us. Michael named him Rousillon!! He is a joy and pleasure to have in the house and on the road with us.

Rousillon - Summer 2009

This Sunday his previous owner and mom Zoe will be coming for dogie date (first one with his mom). Going to be interesting to see them connect and react. Rpusillon has been camping with us in June already and really enjoyed it very much.

Finally some good news….

Today we received word from the LTD Insurance claim. Michael has been approved – cheque is in the mail, back dated to January 9 2009!!!!

God is good!!

M & H Martin

Heal me, O LORD, and I will be healed; save me and I will be saved, for you are the one I praise. Jeremiah 17:14 ~

In a nutshell

We are still at a standstill financially with no income for the past 2 months.

The policy holders of the Long Term Disability (LTD) Insurance and namely my assigned senior disability claim specialist (SDCS) (who I will not name at this time), is holding out. I have been proactive with this claim since the first week of January 2009, calling weekly for updates and concerns.

In the middle of February 2009 the Insurance Company requested more medical information from me. My family Dr. sent the information as requested, it was sent February 19th. Shortly after it had been sent I called the Insurance Company to confirm that they had received the info and my LTD SDCS there claimed that it had not arrived. I contacted the Dr. office again to confirm that it had been sent and requested a tracking number, they said it was sent via Canada Post.  Next I called Insurance Company, asking for the supervisor, who was unavailable. The receptionist was unable to connect me to the mail room (due to policy reasons). She then asked what the problem was. I proceeded to explain that my Dr. office had sent confidential medical information and it had been 2 weeks in the mail and I was wondering if it had arrived safely.

Now I am getting very concerned that my personal medical information is lost in the mail. The Insurance Company receptionist says she would locate the mail and then get back to me.  About an hour later my SDCS calls stating that he had it on this desk!!

Now he proceeds to tell me that since my family Dr. has written in the medical information that I would be ready to return back to work at the 12 week mark (March 30^th).  I requested a Graduated Return Back to Work Program (GRTW) from Insurance Company and their SDCS explains that this is my problem and there would be no help to get me back to work again. Insurance Company offers me the following options

1.       Return to work now and get my claim paid out for the past 9 weeks. (At which time my claim would be closed permanently)

2.       I could wait the full 12 weeks as my family Dr. Initially advised and then I may or may not be approved for the LTD Insurance.

This conversation left me totally confused, so I called him back to clarify what decisions if any the Insurance Company had made about my claim. He says that he spoke too soon about paying out the 9 weeks and that in fact, no decision had been made yet and that he was not even sure when one would be made.

This morning I set up appointments with my family Dr and my employer. I explained my situation.  They both agreed that I am not fit enough to return to work at this time (9 weeks) and advised that I wait out the whole 12 weeks.  That during the next month I begin physio therapy and get fit.

My current medical status and a request for GRTW will be faxed to the Insurance Company for review this week.  In the meantime I am waiting for their decision on my claim.

WILL THEY OR WON’T THEY??

M & H Martin

Heal me, O LORD, and I will be healed; save me and I will be saved, for you are the one I praise. Jeremiah 17:14 ~

The latest……..

On Tuesday this week we went back to VGH to see the surgeon for post op follow up. Dr Zwimpher was happy with the progress of recovery.

He ordered a X-ray and things are looking normal. Michael will continue to do stretching exercises. Now we are still awaiting the decision of Long Term Disability. Been a tought time going with no income for the past 2 months. Thankfully the Church and family has been helping us pay the mortgage, bills and get food on the table.

M & H Martin

Heal me, O LORD, and I will be healed; save me and I will be saved, for you are the one I praise. Jeremiah 17:14 ~

Understanding NF1 – Enhanced Glossary

A
			Acoustic neuroma: Benign tumor of the eighth cranial nerve (acoustic or hearing nerve) which causes hearing impairment (also called acoustic neurinoma or acoustic schwannoma).
			Allele: Specific form of a gene. Each individual has two copies of every gene, one inherited from each parent. The particular form of the gene inherited from each parent is referred to as an allele. Neurofibromatosis is due to an alteration of one of the two alleles at the neurofibromatosis gene locus.
			Amniocentesis: Method of prenatal diagnosis in which a small amount of amniotic fluid which bathes the fetus is removed for genetic study. Usually performed at 16 to 20 weeks of gestation.
			Astrocytoma: A brain tumor containing cells derived from the glial cells (astrocytes or “star-shaped” cells) of the nervous system, which may be benign or malignant.
			Axilla: The hollow area under the arm where it joins the body. Skin-fold freckles related to NF1 often develop in this area.
			Autosomal dominant inheritance: Only one gene of a pair needs to be altered (mutated) for expression of a trait or disorder. A person who carries such a gene has a 50% chance of passing it on to any of his or her children. Neurofibromatosis is an autosomal dominant disorder.
			B
			Biopsy: Surgical removal of tissue for examination for diagnostic purposes.
			C
			Café-au-lait spots: Light-brown flat skin spots, variable in shape and size, commonly present on people with NF1.
			Cerebrospinal fluid (CSF): Fluid which bathes the brain and spinal cord.
			Chemotherapy: Treatment of person with malignant tumor by chemical agents.
			Chorionic villus sampling: Method of prenatal diagnosis in which a small piece of fetal placenta is removed for genetic study. Can be performed in the first third of pregnancy.
			Chromosomes: Structures located in the cell nucleus which contain genes determining hereditary characteristics.
			Congenital: Present at birth.
			CT scan (for computerized tomogram, also called CAT scan for computerized axial tomography): Computer-processed image that allows structures inside the body, including soft tissues, to be visualized.
			D
			DNA: The chemical substance that makes genes.
			E
			EEG: Electroencephalogram, used to examine electrical activity of the brain for diagnosis of seizures and other problems of brain function.
			Expressivity: Degree to which a genetic trait is manifested.
			F
			Fibroblast: Cell type that is found in connective tissue throughout the body and involved in the development of neurofibromas.
			G
			Gene: Basic unit of heredity.
			Genetic testing: Tests to determine characteristics of genes done to establish a diagnosis or provide genetic counseling.
			Genotype: A tiny biochemical structure in cells that transmits characteristics from one generation to the next.
			Glaucoma: Increased pressure within the eyeball, which may occur in individuals with neurofibromatosis type 1 having a plexiform neurofibroma of the orbit.
			Glioblastoma: A type of malignant brain tumor.
			Glioma: A tumor composed of connective tissue of the nervous system and affecting the brain or spinal cord. Sometimes found on the optic nerve of people with NF1.
			H
			Heterozygote: Individual who possesses different alleles at a gene locus on each of a pair of homologous chromosomes.
			Homozygote: Individual who possesses the same allele at a gene locus on each of a pair of homologous chromosomes.
			Hormone: Chemical substances secreted by glands in the body which serve particular roles.
			Hydrocephalus: Presence of increased spinal fluid pressure within the ventricles of the brain.
			Hypertrophy: Increase in the size of a part of the body.
			Hypothalamus: Part of brain responsible for control of hormone secretion, appetite, and other “automatic” functions.
			K
			Kyphoscoliosis: Spinal deformity combining sideways curvature and hunching forward of the upper part of the spine.
			L
			Learning disability: A condition that either prevents or significantly hinders somebody from learning basic skills or information at the same rate as most people of the same age.
			Leukemia: Malignancy involving white blood cells, found rarely in association with neurofibromatosis type 1.
			Linkage analysis: Method of mapping genes in relation to one another along the chromosome.
			Lisch nodules: Small clumps of pigment on the iris of the eye, often seen in people with NF1.
			M
			Macrocephaly: Enlargement of the head.
			Mast cell: Type of cell that is widely distributed throughout the body and particularly prevalent in neurofibroma tissue. Mast cells secrete substances that may affect the behavior of other cells nearby, including those involved in the development of neurofibromas.
			Megalencephaly: Enlargement of the head.
			Meiosis: Process of cell division which occurs exclusively in germ cells and functions to reduce the chromosome number from 46 to 23 in this cell lineage.
			Melanosome: Structure inside melanocytes which contains pigment. Giant melanosomes are seen within pigment cells in a café-au-lait spot.
			Mitosis: Process of cell duplication.
			MRI scan (magnetic resonance imaging): An imaging technique that use electromagnetic radiation to obtain images of the body’s soft tissues.
			Mutation: A random, permanent alteration in a gene that results in a new trait or characteristic that can be inherited by offspring.
			Myelin: The substance that forms an “insulating” sheath around many nerve fibers.
			N
			Neural crest: An embryonic structure which contains many of the cell types that tend to grow abnormally in neurofibromatosis.
			Neurilemma: The thin membrane which spirally enwraps the myelin layers of myelinated nerves.
			Neuro: Denotes relationship to a nerve or nerves, or to the nervous system.
			Neurofibroma: A tumor of peripheral nerves caused by abnormal proliferation of Schwann cells and/or fibroblasts.
			Neurofibromatosis 1 (NF1): A disorder characterized by developmental changes in the nervous system, skin, bones, and other tissues. Its most distinctive features are the occurrence of multiple benign soft tumors (neurofibromas) and patches of skin pigmentation (café-au-lait spots).
			Neurofibromin: The protein product of the NF1 gene.
			Neurofibrosarcoma: Malignant tumor of nerve sheath (also called malignant schwannoma).
			Neurons: Electrically active cells of the nervous system responsible for controlling behavior and body functions.
			Noonan syndrome: Dominantly inherited disorder characterized by short stature, congenital heart disease, and distinctive appearance. Features of Noonan syndrome have been found in a small proportion of individuals with neurofibromatosis type 1.
			O
			Optic glioma: A tumor affecting the optic nerve. Optic glioma may occur in NF1.
			Optic nerve: The nerve that transmits visual information from the eye to the brain.
			Orbit: The bony cavity of the skull where the eyeball lies.
			Orbital dysplasia: A deformity in the orbit, the bony wall behind the eye, and/or the bone behind it, which may result in displacement of the eye.
			P
			Penetrance: Proportion of individuals possessing a genetic trait who manifest specific features of the trait.
			Peripheral: Situated away from the center or central nervous system.
			PET scan (positron emission tomography): A specialized test that measures a region of the body’s metabolic activity. The test may be helpful in distinguishing benign neurofibromas from other types of tumors.
			Phenotype: Expression of a genetic trait.
			Pheochromocytoma: Tumor of the adrenal gland which causes severe high blood pressure.
			Pituitary gland: Gland located at the base of the brain which secretes hormones involved in growth, sexual function, and control of other endocrine glands.
			Plexiform neuofibroma: A diffuse type of neurofibroma affecting a bundle or bundles of nerves.
			Polymorphism: Genetic trait for which multiple alleles exist with appreciable frequency in the population.
			Precocious puberty: Attainment of puberty abnormally early.
			Prenatal diagnosis: The testing for the presence of a medical condition in an embryo or fetus.
			Proteus syndrome: Recently described disorder that causes overgrowth of parts of the body, as well as abnormalities of skin and bone. It has been suggested that John Merrick, the “Elephant Man,” actually had Proteus syndrome rather than neurofibromatosis.
			Pseudoarthrosis: A false joint. May result from fracture within long bone that does not heal in some people with neurofibromatosis.
			R
			Radiation therapy: A treatment of malignant tumors that involves killing tumor cells by exposing the affected area to radiation.
			Recessive: Both members of a pair of genes need to be altered in order to have expression of the trait or disorder.
			Recombination: Process whereby homologous chromosomes exchange segments during meiosis.
			Rhabdomyosarcoma: Malignant tumor of muscle cells, found rarely in association with neurofibromatosis type 1.
			S
			Sarcoma: Malignant soft-tissue tumor.
			Schwann cell: The cell that wraps around a nerve fiber to form a protective myelin sheath.
			Schwannoma: Type of tumor composed of Schwann cells and characteristic of NF2.
			Scoliosis: An excessive sideways curvature of the spine.
			Segmental neurofibromatosis: The occurrence of features of NF1 confined to a specific part of the body. Segmental neurofibromatosis is thought to represent a mutation of the NF1 gene in some but not all cells of the body.
			Seizure: Abnormal electrical discharge of brain tissue, often resulting in abnormal body movements or behaviors.
			Skin-fold freckles: Freckles on areas of the skin not exposed to the sun. Often seen in people with NF1.
			Slit lamp: Device used by ophthalmologists to examine the structures at the front of the eye. Necessary for proper examination for Lisch nodules.
			Sphenoid: Skull bone that forms a portion of the back of the orbit. Sometimes the sphenoid is abnormally formed in people with NF1, resulting in deformity of the orbit.
			Spinal fusion: A means of surgical treatment of scoliosis.
			Spontaneous mutation: A mutation occurring without apparent external influence.
			Sporadic trait: Occurring in a single individual in a family, with no prior family history.
			T
			Tibia: The long bone in front of lower part of leg (shinbone), sometimes bowed in people with NF1.
			Tibial dysplasia: A deformity involving excessive bowing or curvature of the tibia, also known as the shin bone.
			Tumor: An abnormal uncontrolled growth or mass of body cells that has no physiological function and may be malignant or benign.
			V
			Ventricles: Cavities within the brain which are filled with cerebrospinal fluid.
			Vertebra: Bone of the spinal column.
			Vestibular nerve: Cranial nerve that conveys information about sense of balance to the brain. This nerve may be affected by complications of NF2 known as vestibular schawannomas.
			von Recklinghausen neurofibromatosis: Another name for neurofibromatosis type 1, the peripheral form of neurofibromatosis.

Pheochromocytoma: A Tumor of the Central Adrenal

Headaches, Anxiety, Nervousness, and Hypertension.

 Pheochromocytomas are tumors of the adrenal gland which produce excess adrenaline. Pheochromocytomas arise from the central portion of the adrenal gland which is called the adrenal medulla. The adrenal medulla is responsible for the normal production of adrenaline which our body requires to help maintain blood pressure and to help cope with stressful situations. A tumor which arises from the adrenal medulla and overproduces adrenaline can be a deadly tumor because of the severe elevation in blood pressure it causes.

Symptoms of Pheochromocytomas

The classical symptoms of pheos are those attributable to excess adrenaline production. Often these patients will have recurring episodes of sweating, headache, and a feeling of high anxiety. The following symptoms are listed from the most common to the least common:

• Headaches (severe)
• Excess sweating (generalized)
• Racing heart (tachycardia and palpitations)
• Anxiety / nervousness (feelings of impending death)
• Nervous shaking (tremors)
• Pain in the lower chest or upper abdomen
• Nausea (with or without nausea)
• Weight loss
• Heat intolerance

Who Should be Examined for a Pheochromocytoma?

• Patients with very difficult to control hypertension
• Patients requiring more than 4 blood pressure medications
• Patients with onset of hypertension before the age of 35
• Patients with onset of hypertension after the age of 60
• Patients with signs or symptoms of pheochromocytoma (above)

Diagnosing Pheochromocytomas

The diagnosis of pheochromocytoma hinges on the treating physician entertaining the diagnosis in the first place. Making the diagnosis is usually straightforward by performing the following tests:

• 24 hour urinary catacholamines and metanephrines. This study is designed to measure production of the different types of adrenaline compounds that the adrenal makes. Since the body gets rid of these hormones in the urine, we simply collect a patient’s urine for 24 hours and determine if they are over-produced. This test measures different types of adrenaline (epinephrine, norepinephrine, dopamine) as well as the break-down products of these compounds which the liver and kidney have degraded. Since these compounds are concentrated in the urine, this test is very good at making the diagnosis of pheochromocytoma.
• Serum catacholamines. This study measures adrenaline compounds in the blood. It is not as sensitive a test for pheochromocytoma as the 24 hour urine test (sometimes the urine test will be positive and the blood test will be negative), but it still can give important information if it shows elevated adrenaline levels.

X-Ray Tests for Pheochromocytomas

There are 4 primary x-ray tests to examine the adrenal glands (and the rest of the abdomen) for the presence of a pheo. Some are better than others and are therefore used routinely, while one or two are used infrequently yet can yield important information when positive. To be more complete, this information was moved to a new page which examines x-ray tests for all adrenal tumors.

Surgical Treatment of Pheochromocytomas

All pheochromocytomas should be removed surgically. The vast majority of patients can be treated with the new technique of minimally invasive Laparoscopic Adrenalectomy. This is now the preferred method for removing pheochromocytomas and is available in most hospitals in the U.S.

More Information on Pheochromocytomas

Pheochromocytomas are often called the Ten Percent Tumor since they do many things about ten percent of the time…

More about Laparoscopic Adrenalectomy

Return to Adrenal Introduction

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M & H Martin

Heal me, O LORD, and I will be healed; save me and I will be saved, for you are the one I praise. Jeremiah 17:14 ~