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Lab-Scientist-LadyParticipant
That is funny. How old is your daughter? When I was a teen every imperfection was the worst thing ever. I was very self conscious. Now I could care less.
Lab-Scientist-LadyParticipantHa, amen! I always call it mommy brain, but it is bigger than that. Lol
Lab-Scientist-LadyParticipantI have the same problem with forgetting everything. Glad I could help.
Lab-Scientist-LadyParticipantDr. Diana is it under my post on looking for a doctor to diagnosis me in the DFW area?
Lab-Scientist-LadyParticipantA current picture of my blue sclera. It more noticeable when I am not feeling well.
Lab-Scientist-LadyParticipantWow. I have gray/blue sclera too. Plus dry eyes and the yellow spots. I thought the yellow spots were due to cholesterol levels being high. My levels are high. My two girls have the blue sclera too.
Lab-Scientist-LadyParticipantOkay PhoenixDown I found a list of differential diagnosis for patients who are suspected to have a connective tissue manifestations. Here they are:
Marfan Syndrome
Loews-Dietz Syndrome
Stickler syndrome
Williams syndrome (WS)
Aarskog-Scott syndrome (faciiogenital dysphasia)
Fragile X syndrome
Achondroplasia and hypochondroplasia
Osteogenesis imperfecta (OI)
Aneuploidies including Down, Turner, Klinefelter syndromesAlso, there are all the other underlying and co-manifestations diseases that go a long with EDS and similar disorders. Like MS, autoimmune, chronic pain and fatigue, features of fibromyalgia, Chiari, bleeding problems, IBS, GERD, osteopenia, POTTS, orthostatic intolerance, adrenocortical insufficiency, celiac disease, malabsorption and other bowel dysfunctions, von Willebrands disease, thrombocytopenia, hypothyroidism, deficiency in vitamins and minerals like D, B12, etc. As you know the list goes on and on…..I hope this helps.
Blessings,Lab-Scientist-LadyParticipantI completely understand, Lab-Scientist-Lady!!! Mourning is a journey, and I still struggle with it at times. I’ve decided that if my path has changed, I need to make the best of it, so I decided to throw myself into getting “real” answers instead of “symptomatic help” for me, sure, but mainly for my kids and everyone else suffering. My research indicates that many of our problems are avoidable. I think doctors relied on “genetic defect, therefore you need to live with it” for too long. I pray that my work will make this condition a nuisance — loose joints. That is what it “should be”, right? 😉
I appreciate what you are doing. I have been told several times now that there is nothing you can do about it. I asked my PCP if I should try to see a spinal doctor to help keep my back problems from getting worst? She said why? You can’t doing anything to stop it? I was hoping she could help me create a treatment plan. Instead she told me just to accept it and not to waste my time. What was the first thing you did after your diagnosis?
Lab-Scientist-LadyParticipant
Hi PhoenixDown,
I hate that the doctor did not check for the other types of EDD or some other genetic disorder. Maybe you have types I/II or type IV. Can you order a 23ME test? You can get the test kit online. Maybe that can tell you more info about what genes you carry.
Maybe you have something different than EDS. What are your symptoms? …Lab-Scientist-Lady – I think I can get the 23andME test but would it demonstrate I have a specific disease? Most reviews of 23andME talk about ethnicity, some mentioned things like the MTHFR gene but I’ve tried the supplements associated with correcting/helping this problem and have had no luck.
The specialist ruled out Classical, Vascular, Kyphoscoliosis, and the Hypermobility type based on clinical examination alone, again she was adamant. See another geneticist? It’s not as simple as that I’m afraid, between NHS failures, private practitioners demanding NHS referrals, and me being pretty ill I can’t simply visit a geneticist.
I’m by no means fixated on a diagnosis of EDS, I just want to know what’s wrong and to be able to have objective proof to show people, especially given that I’m house bound (bedroom bound mostly to cut a long story short), and my health is continuing to decline.
Can you tell us why YOU think you have EDS?
I don’t wish to publically list all my “EDS symptoms” but I’m happy to send a comprehensive email to you Dianna.
My questions are: Can I still have CCSVI, a Chiari malformation, or some non-EDS connective tissue disorder that presents a similar set of symptoms to EDS?
The next thing I was thinking about looking into is Mast Cell issues, as I have unusually strong allergic reactions to tiny amounts of dust/mould/unsure.
Hi PhoenixDown,
From what I read the 23ME can tell you your carrier status and likely hood to develop some diseases. It is lacking many disease and conditions, but depending what all you have going on it might help. It works best for those of European descent . It may or may not be useful for you. I have not tried it yet. I believe you can have some of the EDS symptoms and have another disease.. There are several closely related connective tissue diseases. Do an Internet search of each of your symptoms and see where overlaps occur. There is always the possibility that what you have is unique to your family. Do you have family members that share your symptoms? There are reports of isolated types of EDS that are unique to single families. I am so sorry you are bedroom bound. I am having similar issues. I am finally accepting that I will never work again or do other things I love. I am just starting down the long road of filing for disability and all the financial hardships that creates. My medical problems are increasing as well is the cost. It is hard to keep going. Have you tried to read the Driscoll Theory? This is also a website for support and advice maybe it will help. http://www.EDSawareness.com. Can you log on to YouTube? Try searching for people with similar issues. Like search for Mast cell issues, connective tissue disorders, CCSVI, or Chairi One Malformation, etc….Sorry I am not much help. I am still new to all of this. Also, have you seen an Rheumatologist, cardiologist, internal medicine doctor, maybe an allergist, or an Endocrinologist? I am sorry I don’t no much about how it all works in the UK. I went to a rheumatologist to rule out an autoimmune disease. Have you had a MRI of your head and neck? Have they ruled out MS or Myasthenia gravis?Lab-Scientist-LadyParticipantDr. Diana,
Isn’t also true that in some families, that they have a unique type of EDS, and it runs true to all affected?Lab-Scientist-LadyParticipantDr. Diana,
My pain management doctor is okay. He at least knows what EDS is and has several other patients with EDS. That is a start, right? Lol. He a typical pain management doctor-suspicious of everything. Pain management is a loose term. I have two types of pain, tolerable and intolerable. I don’t remember any more what it feels like to not be in pain, and my tolerable level is someone else’s debilating pain. Everyday is a struggle and I am on two high dose narcotics. They only take the edge off. I am going to have to go on disability. It is a hard thing. I love being a microbiologist and I am good at it. I really love teaching students and doctors. I am in mourning of all the things I like to do, but can’t. I feel like EDS has taken all from me. I really worry for my kids and their future.June 20, 2013 at 1:40 pm in reply to: Whoa! My left ventricular diastolic dysfunction is gone now!!!!! #3797Lab-Scientist-LadyParticipantThank Dr. Diana,
I was worried after you and someone else said that the LVDD was seen but y’all were not notified. My cardiologist said to come back in a year, but he said that before my echo. Therefore, I wanted to make sure I was not missing something. As you said we must be our own advocate. I have the raw data and I was looking over it, and even though they called and said it was normal I wanted to make sure. I have dealt with chest pain and my heart racing for a long time. All the stuff you live with, and deal with. I hate that we have all these weird symptoms but all the test come back “normal”. I guess it is hard because I am a scientist and I like the data to back me up. After all doctors never want to go out on a limb with out concrete data. I was in to my PCP yesterday discussing things with her, and she never wants to go beyond what she does. For example I showed her my abdominal wound and ask her if I could start swimming again. She looked at it, but then stated that she did not want to make that determination and to leave it to my surgeon. Really? The wound is closed I just wanted confirmation. She is a doctor and should be able to answer that.
June 20, 2013 at 12:24 am in reply to: Whoa! My left ventricular diastolic dysfunction is gone now!!!!! #3790Lab-Scientist-LadyParticipantAlso, Dr. Diana is it normal to have an ejection fraction of 60-65 percent in my LV? Thanks.
June 19, 2013 at 7:33 pm in reply to: Whoa! My left ventricular diastolic dysfunction is gone now!!!!! #3789Lab-Scientist-LadyParticipantHow often do you have to be seen by a cardiologist? I went for the first time, and my echo showed only a mild tricuspid valve regurgitatin, a trace of mitral valve regurgitation, and trace pulmonic insufficiency. I was born with a heart murmur and my mom was told it was innocent. I don’t have those records and they would thirty plus years old. I guess I have a baseline now and all my measurements were within “normal”. What do I need to monitor, look for, and how often? Thanks.
Lab-Scientist-LadyParticipantAlso send Barbara a message. She is in the UK and is quite knowledgeable.
Blessings, -
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