UPDATE - Appt with Sleep Neuro

Madalot wrote:[The side effects, for me, were too severe and potentially life threatening to keep taking it. The daytime breathing problems were a big concern. Additionally, the side effects worsened each day.

I also have occasional daytime breathing problems; but not as often as I did in the first few weeks. It was a shortness of breath feeling. LIke I was either not getting enough air - or for me, almost like my body decided to stop breathing in the day and I have to conciously breath.
I have complex sleep apnea, where at night, I may simply stop breathing without any obstruction. Perhaps that is being carried over into the day.

Today, I'm running a test: Take nuvigil with food (after breakfast). Instead of as soon as I get up - then eat 30 min later.
The Nuvigil website says slower absorbsion when taken with food. Perhaps that may help eliminate the 11:30am screwball feeling.

Madlot: ALso, these drugs are no cure for anything. From what you have been describing, you need to focus on the cause, not the symptom.

After 2 year of Apneas.... only recently week did I discover how using a differnt mask, and slightly different BiPap settings reduced my AHI even more. and I FEEL the difference in the morning. Ongoing tweaking.

mdboze wrote:[Madlot: ALso, these drugs are no cure for anything. From what you have been describing, you need to focus on the cause, not the symptom.

If it were only that easy!

We have been trying to diagnose me for, let's see, over 11 years? Neuromuscular Disease of Unknown Etiology. I've been told Myotubular Myopathy, Limb-Girdle Muscular Dystrophy, Mitochondrial Myopathy with a Myasthenic Syndrome thrown in for fun.

Breathing difficulties (mostly at night, but do carry over into the day) are just another SYMPTOM of a disease that is puzzling some of the best doctors around.

In my specific case -- they have no alternative but to treat the symptoms since they can't cure the disease (even if they could figure it out).

My life is all about adapting & compensating for progression of an unknown disease. All these symptoms crop up at any given time in my life. Some are just annoying as Hell (like ONE day not being able to hold my water glass with one hand at dinner) and some are scary, like the breathing problems. Treating the breathing problems has caused sleep disruption, which is an entire NEW set of issues, thus why we tried the Nuvigil.

Not looking for cures for anything -- they just aren't possible.

Like in the last week or so -- I CAN swallow just fine, but food is getting stuck. It's not constant so I never know when it's going to happen and it is painful -- OMG. Scares the crap out of my family because I drop my fork, grimace and put my fist to my chest and sit there and wait until the food finally goes down.

Not constant -- but is happening more and more. Most likely yet ANOTHER muscular problem that cannot be fixed.

But I deal as best I can on any given day.

Maddie,

Thoughts and prayers and best wishes for you.

It's got to be a bit frustrating when folks comment on what to try or counsel you to try to be a bit more patient without taking into account your full, complex medical history and how that unknown, but likely genetic disorder and the resulting diaphragm weakness affects everything connected to your medical treatment, including the use of the vent and the necessity of extreme caution in dealing wit drug side effects. It's one thing for a person with normal daytime breathing to experience a bit of short breath problems while adjusting to something like nuvigal; it's something else altogether when a person known to have daytime breathing issues does.

Hang in there.

robysue wrote:Maddie,
likely genetic disorder and the resulting diaphragm weakness affects everything connected to your medical treatment

Maddie,
I don't know if you considered this, but it no longer costs 1 million dollars to have your gene sequences and analyzed.
With faster and faster computers, the cost are rapidly going DOWN. There will probably be an IPhone App for genetic screening withing 10 years.

But today, there is a this company "23And ME" that can do sequencing and screening for $99.00
https://www.23andme.com/
How it works: https://www.23andme.com/howitworks/
The complete list of the 121 topics they screen for: https://www.23andme.com/health/all/
The List:
Carrier Status (27), Alpha-1 Antitrypsin Deficiency *, BRCA Cancer Mutations (Selected) *, Bloom's Syndrome *, Canavan Disease *, Congenital Disorder of Glycosylation Type 1a (PMM2-CDG) *, Connexin 26-Related Sensorineural Hearing Loss *, Cystic Fibrosis *, Factor XI Deficiency *, Familial Dysautonomia *, Familial Hypercholesterolemia Type B *, Familial Mediterranean Fever *, Fanconi Anemia (FANCC-related) *, G6PD Deficiency *, Gaucher Disease *, Glycogen Storage Disease Type 1a *, Hemochromatosis *, Limb-girdle Muscular Dystrophy *, Maple Syrup Urine Disease Type 1B *, Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency *, Mucolipidosis IV *, Niemann-Pick Disease Type A *, Nijmegen Breakage Syndrome *, Phenylketonuria *, Rhizomelic Chondrodysplasia Punctata Type 1 (RCDP1) *, Sickle Cell Anemia & Malaria Resistance *, Tay-Sachs Disease *, Torsion Dystonia *, Drug Response (20), Abacavir Hypersensitivity *, Alcohol Consumption, Smoking and Risk of Esophageal Cancer *, Antidepressant Response, Beta-Blocker Response, Caffeine Metabolism, Clopidogrel (Plavix®) Efficacy *, Floxacillin Toxicity, Fluorouracil Toxicity *, Hepatitis C Treatment Side Effects, Heroin Addiction, Lumiracoxib (Prexige®) Side Effects, Metformin Response, Naltrexone Treatment Response, Oral Contraceptives, Hormone Replacement Therapy and Risk of Venous Thromboembolism *, Postoperative Nausea and Vomiting (PONV), Pseudocholinesterase Deficiency *, Response to Hepatitis C Treatment *, Response to Interferon Beta Therapy, Statin Response, Warfarin (Coumadin®) Sensitivity *, Traits (52), Adiponectin Levels, Alcohol Flush Reaction *, Asparagus Metabolite Detection, Avoidance of Errors, Birth Weight, Bitter Taste Perception *, Blood Glucose, Breastfeeding and IQ, C-reactive Protein Level, Caffeine Consumption, Chronic Hepatitis B, Earwax Type *, Eye Color *, Eye Color: Preliminary Research, Food Preference, Freckling, HDL Cholesterol Level, HIV Progression, Hair Color, Hair Curl *, Hair Curl: Preliminary Research, Hair Thickness, Height, Hypospadias, Iris Patterns, Lactose Intolerance *, Leprosy Susceptibility, Longevity, Malaria Complications, Malaria Resistance (Duffy Antigen) *, Male Pattern Baldness *, Measures of Intelligence, Measures of Obesity, Memory, Menarche, Menopause, Muscle Performance *, Nearsightedness and Farsightedness, Non-ABO Blood Groups *, Norovirus Resistance *, Odor Detection, Pain Sensitivity, Persistent Fetal Hemoglobin, Photic Sneeze Reflex, Prostate-Specific Antigen, Reading Ability, Resistance to HIV/AIDS *, Response to Diet and Exercise, Sex Hormone Regulation, Smoking Behavior *, Tooth Development, Tuberculosis Susceptibility, Disease Risk (113), Abdominal Aortic Aneurysm, Age-related Macular Degeneration *, Alcohol Dependence, Alopecia Areata, Alzheimer's Disease *, Ankylosing Spondylitis, Asthma, Atopic Dermatitis, Atrial Fibrillation *, Atrial Fibrillation: Preliminary Research, Attention-Deficit Hyperactivity Disorder, Back Pain, Basal Cell Carcinoma, Behçet's Disease, Bipolar Disorder *, Bipolar Disorder: Preliminary Research, Bladder Cancer, Brain Aneurysm, Breast Cancer *, Breast Cancer Risk Modifiers, Celiac Disease *, Celiac Disease: Preliminary Research, Chronic Kidney Disease *, Chronic Lymphocytic Leukemia, Chronic Obstructive Pulmonary Disease (COPD), Cleft Lip and Cleft Palate, Cluster Headaches, Colorectal Cancer *, Coronary Heart Disease *, Coronary Heart Disease: Preliminary Research, Creutzfeldt-Jakob Disease, Crohn's Disease *, Developmental Dyslexia, Dupuytren's Disease, Endometriosis, Esophageal Cancer: Preliminary Research, Esophageal Squamous Cell Carcinoma (ESCC) *, Essential Tremor, Exfoliation Glaucoma *, Follicular Lymphoma, Gallstones *, Generalized Vitiligo, Gestational Diabetes, Glaucoma: Preliminary Research, Gout, Hashimoto's Thyroiditis, Heart Rhythm Disorders (Arrhythmias), High Blood Pressure (Hypertension), Hodgkin Lymphoma, Hypertriglyceridemia, Intrahepatic Cholestasis of Pregnancy, Keloid, Kidney Cancer, Kidney Disease, Kidney Stones, Larynx Cancer, Lou Gehrig's Disease (ALS), Lung Cancer *, Lupus (Systemic Lupus Erythematosus) *, Male Infertility, Melanoma *, Melanoma: Preliminary Research, Meningioma, Migraines, Multiple Sclerosis *, Narcolepsy, Nasopharyngeal Carcinoma, Neural Tube Defects, Neuroblastoma, Nicotine Dependence, Nonalcoholic Fatty Liver Disease, Obesity *, Obesity: Preliminary Research, Obsessive-Compulsive Disorder, Oral and Throat Cancer, Osteoarthritis, Otosclerosis, Ovarian Cancer, Paget's Disease of Bone, Pancreatic cancer, Parkinson's Disease *, Parkinson's Disease: Preliminary Research, Peripheral Arterial Disease, Placental Abruption, Polycystic Ovary Syndrome, Preeclampsia, Primary Biliary Cirrhosis *, Primary Biliary Cirrhosis: Preliminary Research, Progressive Supranuclear Palsy, Prostate Cancer *, Psoriasis *, Restless Legs Syndrome *, Restless Legs Syndrome: Preliminary Research, Rheumatoid Arthritis *, Sarcoidosis, Schizophrenia, Scleroderma (Limited Cutaneous Type) *, Selective IgA Deficiency, Sjögren's Syndrome, Squamous Cell Carcinoma, Stomach Cancer (Gastric Cardia Adenocarcinoma) *, Stomach Cancer: Preliminary Research, Stroke, Sudden Cardiac Arrest, Tardive Dyskinesia, Testicular Cancer, Thyroid Cancer, Tourette's Syndrome, Type 1 Diabetes *, Type 2 Diabetes *, Ulcerative Colitis *, Uterine Fibroids, Venous Thromboembolism *,

This Company "Illumina" can do a full gene sequence. They seem very professional.
http://www.illumina.com/
Illumina’s personal genome service, a full genome can be sequenced, or check for specific genes with a partial sequence.

Another company that can do it:
http://www.everygenome.com/

Note: if you do search the web for gene sequencing information, be sure to filter your results to show only the last year. Anything older than one your will be out of date because this field is growing so fast!

A bit more, a blog were people talked about it:
http://www.ted.com/conversations/4063/w ... _test.html
Would you get your genome tested to ascertain whether you have an increased risk of genetic disease?

In recent times it has become possible to get your genome screened at a reasonable cost (I am thinking of companies like 23andme etc) for a variety of known mutations that contribute to a variety of genetic ailments.

Would you want to know?
What are the advantages of screening for the individual and their family? How about disadvantages?
If people start doing DIY screening, would this have an effect on national healthcare provision? Would we need more genetic counsellors etc.?



This might just give you a different direction to look for the cause.

Wish you the best,


Michael.

robysue wrote:Thoughts and prayers and best wishes for you.

It's got to be a bit frustrating when folks comment on what to try or counsel you to try to be a bit more patient without taking into account your full, complex medical history and how that unknown, but likely genetic disorder and the resulting diaphragm weakness affects everything connected to your medical treatment, including the use of the vent and the necessity of extreme caution in dealing wit drug side effects. It's one thing for a person with normal daytime breathing to experience a bit of short breath problems while adjusting to something like nuvigal; it's something else altogether when a person known to have daytime breathing issues does.

Hang in there.

Thanks Robysue. I understand that it's hard to keep track and know what a person's in-depth problems are, especially over a message board system. I don't get upset by comments or suggestions that someone makes simply because they just don't know - as long as once it is explained to them, they accept it and don't keep insisting on things that aren't applicable to my situation.

And I do keep in mind that my situation is confusing & complex so there's no way others can keep track of it.

mdboze wrote:

robysue wrote:Maddie,
likely genetic disorder and the resulting diaphragm weakness affects everything connected to your medical treatment

Maddie,
I don't know if you considered this, but it no longer costs 1 million dollars to have your gene sequences and analyzed.
With faster and faster computers, the cost are rapidly going DOWN. There will probably be an IPhone App for genetic screening withing 10 years.

Interesting. A few years ago, my doctor wanted to do full genetic testing for the Limb-Girdle Muscular Dystrophies. My insurance did NOT cover it and MY costs were almost $7,500. There just no way I could do that.

I have been working with my current neurologist/university for almost two years and he has been able to get some testing done for mitochondrial myopathy (what he suspects is a part of my problem) at minimal cost. So far, all those tests have come back negative.

I am now participating in a research study and they are testing for every known muscular dystrophy. I submitted my blood samples in June, but we haven't received any results as of yet.

But thanks for sharing this information, Michael. Good to know.