Forum Replies Created
-
AuthorPosts
-
Lab-Scientist-LadyParticipant
Hi Nancy, you don’t have to be double jointed to hyperextend joints. I hyperextend my knees and elbows past negative 10 degrees. I first learned I could do this form my physical therapist and my doctors. i never realize I was doing it. All my joints pop too and it’s actually subluxing. Sounds like you’re describing you joints doing that. Even sounded like you had a complete dislocation that you managed yourself. For me it started in my ankles, TMJ/jaw, and my patella on my left knee. Now it’s almost every joint my body from my thumbs to my shoulders to my big toe. I would try to find a dermatologist that knows something about connected tissue diseases and maybe she can order a skin biopsy for you, and then from there you can go to an endocrinologist. If you could find a genetictist that would be even better. Do you have the stretchy skin? Check multiple places on your body. It only needs to be 1.5 cm or greater. Doctors prefer the volar surface of the wrist. Do you have abnormal scaring? Like thin, white, transparent, stretch marks? I hope you can also check out the videos on here that dr. Diana made. They are full of wonderful info.
September 5, 2013 at 2:46 pm in reply to: Has anyone tried LDN and became a tighter or more together EDSr? #4288Lab-Scientist-LadyParticipantNo you can not use it with opioids because it is a opioid receptor antagonist. Its action on the o receptors stimulates endorphin levels and I believe opioid growth factor. PEA (supplement sold in Europe) can be used with opiods.
Be careful. From what I am reading long term opioid use or very low opioid dosing (I think) can make for more pain. Opioids are god for short term. Pople who use opioids would need to come off of them to get on LDN.
Are you from the Dallas area? My PT just started there. She is VERY good and knows EDS… She is a 3rd level certified dry “needler”, DPT, LMT, & CERT in conditioning.
Sorry I did not see this sooner. I am in the Dallas area. What is your PT’s name, and is she in Dallas or somewhere nearby? I have been doing PT and other things for years without success. My body does not respond well to intervention. The narcotics were last resort, and I have been on them for a 1 1/2+ years. They help some but not enough. I have not tried dry needling. How is that suppose to help? I think my body would react poorly to that.
Shonda
Lab-Scientist-LadyParticipantI could also email it he list to you. If you want it in the proper form?
ShondaLab-Scientist-LadyParticipantLooks like I cut of part of Dr. Diana’s list. Here is the rest:
Interstitial cystitis (feels like you often almost have a UTI) or pelvic pain syndrome
Do you have other autoimmune conditions such as Rheumatoid Arthritis, M.S., Sjogren’s, etc?
Is there a family history of mental illness?
Is there a family history of Alzheimer’s Disease?
Are there autoimmune conditions in your family?By completion of this poll, I hereby certify that I am an individual with a suspected or confirmed
diagnosis of dysautonomia and or M.E./ Chronic Fatigue Syndrome.I understand that my identity will be held strictly confidential, and only used only to confirm the ethics of the poll.
If you do not wish to participate in further studies (likely based on your results), please indicate here:
Thank you so much for your help in getting out the word to the world that we suffer with more than fatigue!
Lab-Scientist-LadyParticipantI had check the eds symptoms on wiki some time ago and didn’t relate that much. But maybe I’m missing something…
I do have a paternal aunt who is as severe as me. My dad, siblings and a cousin seem to all have the same problem but very slightly. I’m trying to download an updated version of adobe reader because the symptom list wouldn’t open.
I never went to a Cardiologist. My heart rate is slow (60) and I don’t suffer from tachycardia. I sometimes have heart flutters which make me cough but I attribute that to low potassium. Usually it’s resolved after I eat a banana.
As for my symptoms I currently have:
severe dysautonomia
low grade fever during pms
long, irregular cycle
low bp
multiple food and medication intolerances
very painful constipation (lower left pain)
seizures
neck/head pain
cold extremities
low exercise tolerance
ankles swelling if sitting or standing
pain in feet
brain fog
fingers hurt when I type
random pain here and there, sometimes a shoulder, sometimes a leg
disrupted sleepNancy are you able to watch Utube? There are some great videos both on this forum and online about EDS. I was also thinking maybe you could see a dermatologist for a skin biopsy. They can be helpful for diagnosing a connective tissue disease. However, a negative skin biopsy does not mean you don’t have a connective tissue disease. Is there an endocrinologist on Malta you could see too? Do you have joint hypeermobility, subluxations, and pain? Google the Beighton score for EDS. Most of us never realize that were are flexible because we have always been flexible and our family is too. Remember it declines as we age. Your symptoms are common among EDSers. You may want to look into other connective tissue diseases too.
Shonda
Lab-Scientist-LadyParticipantSorry nancy they above post is a poor copy of dr. Diana’s check list. I hope this helps in someway. I figure it is better than nothing. You maybe have to drag her list into another file and open it. I know she is working on updating the forum .
ShondaLab-Scientist-LadyParticipantDysautonomia/ CFS, M.E. Potential Symptoms
© Genetic Disease Investigators, 2013, All Rights Reserved
Name: (This will be kept confidential, but is required to reassure the ethics committee that you are a “real” person):
email address:
Where do you live? (state or country if not in U.S. is fine)
How many years ago you were “triggered” to go downhill? (or state if you’ve always been sick)
Please place a “1” in each box that pertains to you, even if the symptom is listed more than once.
Yes, this has happened
Almost Never / Never
I Don’t Know
“Allergy prone”Do you see “dancing” lines; “spiders”, insects
“Terry’s nails”: nails lose their moons, flatten, redish at tips with tiny white dots 1mm away
Abnormal lipid profiles
ADHD
Agitation
An eye turns in, or double vision when looking far right or far left
Anaphylaxis
Anti-phospholipid Syndrome
Bipolar presentation (euphoria and/or dysphoria — depression/suicide ideation)
Blood pressure drops when standing
Bradycardia or tachycardia
Breast fibrosis
Candida or thrush (may include a white tongue)
Cataplexy
Change in sense of smell; smell “hallucinations”
Change in sense of taste
Changes in voice
Changes in your visual field
Chewing food is difficult
Clear fluid comes out your nose when leaning forward
Coma or cataplexy; stupor: times of staring off into space, unaware
Confusion
Conjunctivitis (“pink eye” for unknown reason)
Constipation
Delayed gross motor skills (walking, crawling, etc)
Delayed speech as a child
DepressionDermatographia (skin turns red, white, or welts with a scratch)
Difficulty breathing
Difficulty concentrating
Diminished bowel movement; constipation
Disorientation
Dizziness
Double vision
Change in depth perception when looking right or left
Dry eyes
Dry mouth
Dry mouth (xerostomia) and possible increase in number of cavities
Dry, sore throat (due to decreased mucous production)
Dysarthria (difficulty speaking)
Dysphagia (difficulty swallowing)
Low pancreatic enzymes
Ear-aches
Easily motion sick
Easily startled (“jumpy”)
Eczema
Environmental sensitivities
Epilepsy; seizures
Extreme fatigue
Fast heart rate (tachycardia)
Feeling “bipolar” or having episodes of anger or rage
Feeling of pressure or fullness in your head
Flushing
Frozen shoulders
Gastroparesis
GERD
Gingivitis
Hallucinated presence of people not actually there
Headache – migraine, tension, cluster or unknown type
Headache at back base of your skull, radiating down your neck to the tops of your shoulders
Hearing loss
Hearing “whooshing” in your hears, Ringing in your ears
Heart attack
Heart palpitations
High Ig E
High serum tryptase
High urine methyl-histamine
IBS
Illogical thinking
Inability to concentrate; ADHD; loss of “executive function”
Incoherent speech
Increased body temperature
Irritability
Left ventricular diastolic dysfunction
Lifelike objects — unable to distinguish them from reality
Light sensitivity (photophobia)
Little or no fever when sick
Liver enzymes “off” or liver fibrosis
Loss of balance; frequent falls
Loss of coordination (ataxia)
Loss of gag reflex
Low ACTH
Low cortisol
Low gall bladder ejection fraction
Low immune system (may include candida, frequent UTI’s, high viral Ab titers)
Low level anxiety
Low muscle tone
Low sex drive; heightened sex drive
Lung fibrosis
Macular degeneration
Memory problems
Mental confusion (brain fog)
Metabolic Syndrome
Multiple sclerosis
Narcolepsy (without the gene for narcolepsy)
Nausea
Neurogenic shock — unable to move or speak when on your back
O.C.D. tendencies
One (or both) lid(s) droop, esp in the morning
One (or both) pupils are too large, esp in the morning
One side of your face is “weaker” than the other (a crooked smile, for example)
Osteopenia
Osteoporosis
Pain or weakness of neck or upper shoulders
Panic attacks
Perspiration stops
Poor healing
POTS — heart rate increases by at least 30 bpm from lying down to standing still for 10 min.
“Pusatile vision” – your vision brightens and dims with your heart beat (often in the a.m. only)
Pupils are dilated; difficulty in focusing up close
Rashes
Restlessness
Rheumatoid arthritis
Seeing periodic flashes of light
Sensitivity to any stress (good or bad)
Sensitivity to light
Sensitivity to movement around you
Sensitivity to noise
Sensitivity to sudden sounds
Shaking
Shift in sexual preference
Skin peeling for no reason
Snoring
Straining makes you feel worse (Valsalva), such as blowing up a balloon
Stroke
Tendency to over-achieve
Textured surfaces bother you, visually
tongue seems too big; difficulty making some sounds, like “s”
Tremor
Tunnel vision
Type 2 Diabetes or insulin resistance
Unexplained facial pain
Unexplained sinus pain
Urinary retention
Urticaria pigmentosa — skin spots, hives
Vertigo (your surroundings move)
Visual “snow”
Voice weakens or quivers or becomes hoarse
Wakeful myoclonic jerking; twitching of fingers or other extremities
Wandering thoughts; inability to sustain a train of thought
Warping or waving of surfaces and edges
Weight loss for no apparent reason
Thoracic outlet syndrome or “frozen shoulder”
Interstitial cystitisLab-Scientist-LadyParticipantI have problems regulating my body temperature too. It seems I have a very narrow range of temperatures I am comfortable in. Too much either way and I am miserable. I think the heat is the worst though because the heat makes my heart rate go wild. At least in the cold I can put warmer clothes on…until I get too hot, lol.
It is funny you mention the tip of your nose, my husband teases me about it all the time too. Mostly the tip of my nose gets cold and he keeps telling me he is going to make me a “nose jacket”.
My hands get so hot that when I touch someone, it is uncomfortable for them. Most times I don’t know my hands are hot unless I put them together. I have noticed along the way that when I am feeling really bad, my hands are like this.
I think people mostly mention how cold my hand are more than hot. I don’t know if this is an EDS thing or just something my kids and I do, but when our feet get hot they sweat so much it leaves foot prints on the floor. When I was working I had shoes that I could only use during the winter because my feet got so cold or only during the summer because they got so hot. When I was a kid we lived in Michigan and remember if I was outside my toes would get so cold, very quickly, and it hurt bad. It was hard to get them to warm back up. Same with my fingers. As I age it only gets worse. I have trouble now holding hot or cold drinks without pain. Like you I dress in layers to pull them of and on as needed. Most of the time my body is burning up, but my feet are ice cold. So I sit with a blanket just on them. To remove and recover as need.
Maybe your husband could invent a designer nose jacket. It might be a hit among us “zebras”. Then y’all can retire early. Nose can get s cold it hurts too.
ShondaLab-Scientist-LadyParticipantI live in Malta, a tiny island in the Mediterranean. This should say it all. I went to the 2 Neurologists that exist here. One referred me to a psychiatrist, the other to a gastroenterologist because I mentioned digestive issues.
A rheumatologist diagnosed me with fibromyalgia/cfs and told me that he can’t help me further. I’ve been ill for twenty long, heartrending, lonely years. I’m 39 now.
If I had money I would book a consultation with Dr. Diana but I have no money. I live on €400 ($528) a month in social benefits and the cost of living here is quite high. My condition has recently taken a turn for the worse. I don’t know what to do.
Can anyone help?
Hi Nancy,
Do you think you have EDS? Are they any geneticist near by? On the home page Dr. Diana has a symptom check list. Answer it and send it to doctor Diana it should help clue you in to the problems you are having. I am 37 almost 38 and I have been sick for a very long time too. You are not alone. Do you have a Facebook account because there are lots of EDS support groups. Also, google Ehlers Danlos national foundation. The web site has wonderful information and a forum as well. It has info on completing a Beighton test. Also, are other members of your family suffering from the same symptoms as you? For example in my family my grandparents, my mom, her siblings, myself, and my kids all have EDS. I was the first one diagnosed because I have a severe form of it. The severity of EDS can range from on person to another, but the form/type runs true in among family members. You mentioned you saw a neurologist . What symptoms are you having? EDSers tend to have a external communicating hydrocephalous and can also have a Chiari I malformation. Unfortunately, the doctor has to be well-versed in EDS to pick up on the hydrocephalus and the Chiari I malformation. Have you seen a cardiologist? A cardiologist is important because in EDS, regardless of type, we are all at risk for vascular rupture. It is important to have yearly echoes to monitor the diameter of out aortic root. Plus EDSers are at risk for LVDD, POTTS, mitrial valve prolapse, etc… Do you have dysautonomia too? I know how isolating and overwhelming this disease is. Hang in there. You are not alone. Even on your little island there are others with EDS there too. Maybe you can be the one to start a support group there for EDSers.
Shonda
ShondaLab-Scientist-LadyParticipantHi Charilie,
Do you have your results back? I am curious if you think it is worth the cost? I saw my geneticist and I have the classical form of EDS, but I like most, lack the marker. I was really thinking I would have it since there is such a clear inheritance in my family, and the genetictist said I was a perfect textbook case of the classical form. Plus my skin biopsy was positive. I hope eventually they’ll have all the genes isolated for EDS in all the types.
ShondaSeptember 3, 2013 at 9:40 pm in reply to: Has anyone tried LDN and became a tighter or more together EDSr? #4263Lab-Scientist-LadyParticipantAre you talking about low dose naltrexone? Can you use it with narcotics? Tell me more please! I live with severe pain, and I would love more options. My pain management doctor is not great!
ShondaLab-Scientist-LadyParticipantWhoops, now I see your post on your eye doctor in Colorado. Glad she is a good one. That is one less doctor to find. Where do you live in Colorado? I was born in Greeley.
ShondaLab-Scientist-LadyParticipantI have flashes of hot then cold. I had trouble with temperature regulation in general, and I don’t well with temperature extremes hot or cold. In fact my friends and family make fun of me and my temparature regulation problems. My hands or feet are either ice cold or burning up and I think they are the most affected body parts besides the tip of my nose. A friend, here on the forum, told me about Frogg cooling towels. I ordered them, through Dr. Diana’s Amazon window, and they are great! Use the window on the home page so Dr. Diana gets research money. I think I am going to order one for my dad. He has dementia and is bedridden most days. His bed room is on the west side of the house, and it gets hot here in Texas during the summer. :coolcheese:
Lab-Scientist-LadyParticipantIt is very hard to get much family health history that is accurate pass our grandparents. At least for me and my age group. I have trace EDS to my Grandparents. I see evidence in both sides. Unfortunately, I lack a traceable gene marker. I wish I did to track it in family members, but I guess the symptoms are very obvious. My geneticist had no trouble diagnosing me because I have a very textbook case of Ehlers-Danlos. Unfortunately, my mom and kids have it too. I personally feel that the classical type since it’s autosomal dominant is 100% passed on. It appears that 100% of my mom’s side of family is affected by Ehlers-Danlos syndrome. I am the first one actually diagnosed with EDS. I appear to be the one most affected. I hope it stays that way! My mom does have a severe heart murmur and she’s going to cardiologist next week for an echo. We will see what they come up with. Her cardiologist at least knows about Ehlers-Danlos syndrome. This week we are taking the kids to the pedi to inform him of my diagnosis. I was waiting to see if I had the vascular form along with the classical form since both my grandparents appeared to had Ehlers-Danlos.
ShondaLab-Scientist-LadyParticipantThat is good. It is always good news to have a doctor willing to learn. I found this referring to a lab test that can be orders on a random urine sample. It also describes type 6. I don’t know is this helps or not, but maybe your PCP could order this or you could see a dermatologist for a skin biopsy and maybe they could order the urine test too.
ShondaYellow top conical tube (no additive)
Minimum:
Preferred Minimum: 4 mL first-morning void or random urine
Absolute Minimum: 3 mL first-morning void orrandom urine
Delivery Instructions:
Deliver to laboratory immediately after collection.
Turn Around Time:
2 weeks upon receipt at reference laboratory
Reference Range:Age PYR DPYR Ratio DPYR/PYR
0-11 months Not applicable Not applicable 0.13-0.20
1-3 years Not applicable Not applicable 0.18-0.24
4-9 years Not applicable Not applicable 0.19-0.25
10-14 years Not applicable Not applicable 0.17-0.27
15-19 years Not applicable Not applicable 0.20-0.26
20 years and older Not applicable Not applicable 0.23-
0.29
Test Limitations:Ehlers-Danlos Syndrome (EDS) describes a heterogeneous group of
connective tissue disorders. EDS VI, also known as the kyphoscoliotic
type, is characterized by hyperextensible skin, joint laxity,
progressive scoliosis, severe muscle hypotonia at birth, and ocular
fragility. It is caused by a deficiency of the enzyme lysyl
hydroxylase. Lysyl hydroxylase is encoded by a gene located on
chromosome 1p36.3-p36.2 known as procollagen-lysine, 2-oxoglutarate
5-dioxygenase 1 (PLOD1). This enzyme is essential for the hydroxylation
of lysine residues on collagen. The derived hydroxylysine residues are
the precursors of the most stable crosslinks of collagen, pyridinoline,
and deoxypyridinoline.The incidence of EDS VI has been estimated at 1 in 100,000 with a
carrier frequency of 1 in 150. It is inherited in an autosomal
recessive manner. Although 20 different mutations have been detected in
the PLOD1 gene, mutation analysis is only being performed on a research
basis. The diagnosis of EDS VI is performed using HPLC to determine the
ratio of deoxypyridinoline to pyridinoline in urine. A markedly
elevated ratio is indicative of the disease. The diagnosis can be
confirmed by enzyme assay in cultured dermal fibroblasts.Affected fetuses are at risk for premature rupture of membranes and 30
percent have clubfoot. Infants usually present with generalized joint
laxity and muscle hypotonia. Gross milestones, such as walking, may be
delayed. Thoracic scoliosis is common in childhood and often progresses
into the moderate to severe range. All affected individuals have
hyperelastic skin, 60 percent have abnormally thin wide scarring, and
50 percent experience severe bruising. Most affected individuals have
high myopia and microcornea, while a minority have ocular fragility,
glaucoma, or retinal detachment. Frequent joint dislocations can also
pose a serious problem. Adults with severe kyphoscoliosis may develop
frequent pneumonia and restrictive lung disease. Affected individuals
are at increased risk for aortic dilation/dissection, as well as
rupture of medium-sized arteries.There are no genotypic/phenotypic correlations that have been
determined in the few affected individuals whose mutations have been
determined. Two pathological variants have been observed in more than
one affected family (gene duplication of 7 exons and Y511X). The most
sensitive and specific manner to establish a diagnosis of EDS VI
remains through biochemical testing.Affected individuals with kyphoscoliosis should be referred for regular
follow-up with an orthopedic surgeon. Older children, adolescents, and
adults can benefit from a physical therapy regimen to strengthen large
muscle groups, particularly the shoulder girdle. They should undergo
routine screening for inguinal hernia.Routine ophthalmologic examination may be useful for detection and
management of myopia and glaucoma. Referral to a cardiologist for an
echocardiogram for aortic root measurement is recommended every five
years, even if the initial examination is normal. Antimicrobial
prophylaxis for individuals with mitral valve prolapse and aggressive
blood pressure control is critical. Affected individuals may also
benefit from vitamin C (0.5-10 g per day) to improve muscular strength
and wound healing.This test should be offered to individuals with clinical symptoms
suggesting EDS VI, such as hyperextensible skin, joint hypermobility,
kyphoscoliosis, easy bruisability, or corneal fragility. All siblings
of individuals deemed affected should also be tested, since they are at
25 percent risk for the same disease. Carrier testing cannot be
performed biochemically or by enzyme assay and is not currently
clinically available through PLOD1 mutation analysis. Prenatal
diagnosis is only available through laboratories that perform custom
DNA analysis for couples who have had a previous affected child with
identified mutations. Genetic counseling should be offered to all
affected individuals and their parents.The HPLC analysis allows the simultaneous quantitation of pyridinoline
and deoxypyridinoline. In patients with EDS VI, the excretion of
deoxypyridinoline is markedly increased. As a result, the
deoxypyridinoline/pyridinoline ratio is also markedly increased (from
0.2 in normal controls to 4-6 in patients with EDS VI) and allows the
diagnosis. -
AuthorPosts