Medical Mumbo Jumbo

     Our Family is rather unusual and at this point we laugh and say we're like 3 headed turtles out of a nuclear waste dump ! We are in studies conducted by universities all over the U.S. and also at the NIH. Our whole goal in life however is to make our children as normal as possible.

   Below is a list of some of our (Ed and I and the children) diagnosis' in case we can be of help to anyone who may have any of them.  Please email me if I might be of service in getting you any information or physician referrals.

Ehlers Danlos Syndrome (EDS) ~ a connective tissue disorder involving all tissues/organs in the body. It is very complicated and vastly varied in it's expression. It is incurable and progressive. The kids and I all have connective tissue disorders.
http://www.ednf.org/index.php?option=com_content&task=view&id=1347&Itemid=88888968

Hereditary Disorders of Connective Tissue (HDCT) ~ EDS is one of the many HDCT's with variable symptomology. It is incurable and progressive. Heritable (genetic) disorders of connective tissue are a family of more than 200 disorders that affect connective tissues. These disorders result from alterations (mutations) in genes, and thus are called “heritable.” All of these diseases are directly related to mutations in genes that are responsible for building tissues. Alterations in these genes may change the structure and development of skin, bones, joints, the heart, blood vessels, lungs, eyes, and ears. Some mutations also change how these tissues work

Chiari Malformation  (ACM1) ~ A brain malformation of the cerebellum. So far, 4 of us have been "decompressed" with brain surgery. There are a few more to go. Most of us have this as it can be hereditary in some cases. http://www.conquerchiari.org

Cranio-Cervical Instability (from EDS also from HLA-B27+ Spondyloarthropathy) ~ An instability in the top of the spine and skull base causing brain stem compression. It requires instrumental stabilization....rods, plates and screws. So far 4 of us have hardware but 2 more are in need of the surgery. Dr. Paolo Bolognese has developed a new and far less invasive surgery for this that minimizes the pain and hospital stay. Our twins underwent the newer surgery and their recovery was far easier than Mary's and mine.  http://www.northshorelij.com/cushing-neuroscience-institute/our-physicians/paolo-bolognese-md

Basilar Impression/Invagination ~  Three of our sons have this deformity of the bone structures at the base of the skull region. This can result in compression of the brain and high cervical cord, circulation issues and impairment of CSF flow.
http://www.dizziness-and-balance.com/disorders/central/cerebellar/basilar%20invagination.htm

Platybasia ~  Malformation of the base of the skull, with forward displacement of the upper cervical vertebrae and bony impingement on the brainstem. Not infrequently, platybasia is associated with Basilar Impression/Invagination.

Syringomyelia ~ A "cyst" in the spinal cord that can cause great damage and disability. The one son who has it in our family has not had damage yet thankfully. I have a tiny syrinx near the brainstem.

Tethered Spinal Cord (also called Occult Spinal Dysraphism)   ~  A congenital condition that causes the spinal cord to become attached to the spinal column at some point along it's path usually in the lower lumbar region. It is related to Spina Bifida. All 8 of our children and I have this with 7 of us having had the surgery. We all had remarkable improvement.  The surgery to correct this can also improve the herniation for Chiari Malformation. We had multiple children have improvement in their measurements in herniation.  http://en.wikipedia.org/wiki/Tethered_spinal_cord_syndrome

Dysautonomia   ~  A malfunction of the autonomic nervous system (the system which regulates things we do not voluntarily control like heart rate, blood pressure, pupil action, digestion, temperature and much more) It is the intermittent failure of the sympathetic and parasympathetic nervous system.  It can come from Ehlers-Danlos Syndrome, Chiari Malformation and Mitochondrial Disease.  www.potsplace.com

Gastroparesis  ~  Is a disorder that slows or stops the movement of food from the stomach to the small intestine. This can become very serious nutritionally causing malabsorption and malnutrition.  I have lost 125 lbs. GP comes from EDS, Dysautonomia and Mitochondrial Disease so we have a triple threat!

Pseudo-Tumor Cerebri (also called IIH Idiopathic Intracranial Hypertension) ~ this is high brain pressure. It causes many problems/symptoms due to pressure on the brain and associated nerves. Those of us that have it have brain shunts. They are both VP (ventriculo-peritoneal) shunts, Medtronic Stratas. http://www.ihrfoundation.org/

Type 1 Diabtetes ~ 2 on insulin pumps and internal glucose monitoring systems, now having the new Closed Loop System!

HLA-B27 Enthisitis Related Spondyloarthropathy ~ a genetic, autoimmune type of arthritis that affects children and adults. So far 3 are affected.

Mitochondrial Disease ~   Mitochondrial diseases are a group of progressive metabolic,  neurological, and many other disorders that result from defects in the mitochondria, which are in almost every type of cell in the body. Mitochondria are responsible for creating more than 90% of the energy needed to sustain life and support growth. Mitochondrial failure results in energy deprivation within the cells. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the affected person’s life is severely compromised.   So far 4 of us are diagnosed with a Complex 1 defect.   http://www.umdf.org, www.mitoaction.org

Ketone Utilization Disorder (KUD, BKT, BKD) ~ One son has this very rare metabolic disorder with a missing link in a chain of amino acids without which isoleucine cannot be processed. He cannot process protein.  This is an Inborn Error of Metabolism (IEM)
http://www.newbornscreening.info/Parents/organicaciddisorders/BKD.html

Tourette's Syndrome ~ A hiccup in the brain causing repetitave behaviours. Thankfully there are meds that can help. We were in a study at Yale University that resulted in drugs that are being developed for this disease. Nine in our family are affected.

Strokes (both hemorrhagic and TIA) our daughter had a hem.stroke at 5 yrs and I have had 4 TIA's due to Mitochondrial Disease.

Epilepsy ~  There are three types of seizures invlolved. http://www.epilepsyfoundation.org/

Osteo Arthritis ~ Usually a disease of the elderly but EDS causes it even in children and young adults.

Dilated Aortas (due to EDS)  ~ The enlargement of the aorta, the largest artery in the body.      http://www.aorticdissection.com/

Supra Ventricular Tachycardia ( AVNRT)  ~ A very rapid heart rate (160-300 beats per minute) due to accessory pathways in the electrical circuits of the heart. One son has had 2 cardiac ablations and will have part of the aorta and a valve replaced.

Cardiac Conduction Abnormalities ~Due to Mitochondrial Disease

Bi-Cuspid Aortic Valve ~ Normally there are 3 cusps in this valve but in bi-cuspid valves there are only 2 with the third being fused. It causes stenosis and dilation of the aorta.

Aspergers

   Many of these have sub-headings of other disorders connected with the primary disease. If you would like more info on these please leave a comment and I'll elaborate. I know when we were first searching for answers I appreciated all who took the time to help me research.