I’ve touched very briefly on the hereditary factor of the diseases from which I suffer in this blog post, but for new followers I thought I’d go over the subject in more depth. I don’t have any technical knowledge of genes – it’s something I keep promising myself I’ll read up on but it’s a very complex subject and I never seem to have the time or the energy – and to be honest it’s kind’ve irrelevant unless you’re planning, or already have, a family (I’m thankfully wayyyy past that stage in my life), but it’s still an important subject as genes hold the key to both cause and cure.
My Mom is one of 7 children, who all now have children, grand-children and in some cases great-grandchildren, so I have a large population to study in terms of my own genetic make-up. My biological Dad, on the other hand, only has one sibling and my paternal family haven’t spoken to me since 1989, so it’s almost impossible to discover any paternal genetic markers. I have one biological brother, who had no children of his own, and one paternal cousin who has 3 children (whose Mom thankfully looked me up on Facebook, so at least I’m in touch with her and can ask questions about the kids), so this information pool is very small. Despite quite a large extended maternal family I haven’t found a single person who shares my disease traits, so I’m either a freak or I’m the post-mans ;-) . I don’t wish illness on any of my family members obviously, but it’s incredibly frustrating to be the only one of 60 people who closely share my genes that’s sick in this way.
Researchers are no further forward in unravelling the mystery of M.E. today than they were when I developed the disease back in 1994. There is usually some kind of immune event, such as a virus or vaccination, involved but not everyone who catches a cold goes on to develop M.E.. Researchers guess that there is, therefore, some kind of pre-disposing factor which makes one person develop the disease and not another, and the most likely pre-disposing factor is genetics.
It’s no coincidence to me that people with Ehlers-Danlos are more prone to also having M.E.. As I state in my Canary post, and the follow-up Q&A, I believe mast cells are implicated in M.E. and of course people with EDS are more prone to developing mast cell diseases than the healthy population. M.E. absolutely can run in families and I personally know of siblings who both have the disease, and parent/child who both have the disease.
EDS is a genetic disorder of collagen and there is a 50% chance a person with the illness will pass it on to their children. I have a sneaking suspicion that both my parents are hypermobile, but that my Mom is the one from whom I’ve inherited EDS and my Dad is just bendy (though it’s hard to gauge as I’m not in touch with my Dad so can’t talk to him about his health).
The following traits in my Mom are the reason I think she has EDS:
- Good at gymnastics as a child, ie very flexible.
- Rubbish at sports. I’m fairly sure her proprioception is off so she’s hopeless at things like catching or hitting a ball.
- It’s impossible to gauge now if her joints are hypermobile, as she is very arthritic, but her thumbs still bend outwards at 45 degree angles like mine.
- She has Pectus Carinatum (ie a ‘pigeon chest’) which is associated with EDS and Marfans Syndrome.
- She has fine, translucent skin.
- She bruises easily.
- She has many signs of Mast Cell Disease (more on this later).
- She had a collapsed lung in her mid forties for no apparent reason (a sign associated with EDS and Marfans Syndrome).
- She has migraine with aura.
- She lost all her teeth in her early 50s due to receding gums.
- She had early onset osteoporosis (though this is common in my extended family, so we obviously have the osteoporosis gene and it may not be connected to EDS).
- Very long standing GERD (ie. reflux).
- Chronic nausea.
- Motion sickness.
- Local anaesthetics don’t work at all. Neither does light sedation, eg. valium.
- Severe stretch marks after pregnancy.
- Frequent nose bleeds.
- Narrow ear and nose canals.
- Dupuytren’s Contracture – this isn’t as yet linked to EDS, but it’s another genetic connective tissue disorder and I’ve come across other people with EDS who also have DC in the family!
As far as my Mom is concerned the list of EDS suspects is quite long. However, she’s never suffered from sprains or strains, has never had a partial or full dislocation, no prolapses, no chronic fatigue and apart from her osteoporosis no pain, so if she does have EDS it’s to a lesser degree than me (for which I’m truly grateful).
My Mom asked my biological brother if he had any signs of EDS and he said no. I disagree.
- As a child he used to frequently ‘pop’ his knuckles.
- He is flat footed.
- He has a marfans body type (very tall with long arms).
- He had childhood “allergies” which he outgrew but I wonder now if they were mast cell related.
- He had “growing pains”.
- He was an exceptionally talented footballer, but due to knee problems had to give up the sport in early adulthood.
- He has a high mouth roof arch and dental overcrowding.
- He told our Mom he isn’t in any way hypermobile: in fact he’s as stiff as a board at only 49 years old (not everyone with EDS is bendy and early osteoarthritis is common).
- At some stage in his adult life he had a period of chronic fatigue so severe he had to go back to live with our Dad. Thankfully he fully recovered.
- He’s had crinkly, loose skin from child-hood (I’d love the opportunity to pull it to see how stretchy it is).
My brother as a young teenager – very loose facial skin (apologies for poor picture quality!)
As I’ve stated before in my blog, I wonder if we have cross-over types of EDS in my family. It may be that my brother might have Classical EDS or even Marfans but I’ve inherited hypermobility from our Dad, which has given me H-EDS?
When I discovered I had EDS I emailed all my maternal cousins and asked if any of them, or their children, showed any signs. None did, apart from one cousin who was at that time having a problem with a ‘clicking’ hip. She went to see a Rheumatologist, who said she was hypermobile but didn’t have EDS as she had no other signs. When I was her age (36) I didn’t have any other classic signs either, so I’m just waiting to see if she deteriorates in her forties as I did. One of my cousins was a professional ballet dancer for some years but she said she has no problems at all despite being in her mid fifties, so is clearly hypermobile but shows no signs of EDS. It does seem weird to me that in a family as large as ours no-one else seems to have any of the problems usually associated with EDS. Having said all that, the only sibling my Mom resembles is her younger brother – she looks nothing like any of the others so maybe the gene has skipped a generation or has come from an Aunt or Uncle?
Mast Cell Disease
Looking back, I know I’ve had MCAD from birth. My Mom also has many MCAD symptoms which suggests there’s some kind of genetic link involved. She has:
- Multiple drug allergies, including hormones, certain antibiotics, certain anti-depressants, morphine, general anaesthesia.
- Flushing after alcohol or strong emotions.
- Itching skin and scalp. Allergy to sticking plasters.
- Sneezes constantly but no obvious allergies (she’s been on daily antihistamines for over 20 years).
- Dry eyes.
- Chronic reflux (she’s been on a PPI for over 20 years).
- Chronic intermittent diarrhea for which no explanation can be found.
- Pressure hives and oedema (ie swelling).
- Chronic low level depression.
- Chronic nausea.
- Gall bladder problems (she had hers removed over 20 years ago – it was so shrivelled and diseased they couldn’t even find it on the scan! MCAD can affect organs like the gall bladder, pancreas and kidneys).
- She’s always ill when travelling abroad, due to changes in climate, food and water.
- Can’t bear strong sunshine.
Thankfully she’s never had issues with foods and her mast cell symptoms don’t seem to’ve escalated to anaphalactoid reactions like mine have, but I do remember that when she went through menopause she had huge problems with swelling, whealing and hives for several years. She was on HRT for her osteoporosis following menopause and lived with huge itchy swollen welts all over her body for 2 years! Her va-j-j also swelled so badly at times she couldn’t put her legs together (why on earth she put up with these symptoms and didn’t just come off the damned patches is anyone’s guess).
My Mom’s sister I also think had mast cell disease, though her symptoms took a very different form. She had severe depression and anxiety her whole adult life, to the point where she even tried ECT (electric shock therapy) which of course didn’t help. There was absolutely no reason for her depression and I think it was caused by MCAD. Her daughter also has depression and anxiety, and regularly wakes in the middle of the night with her heart pounding and her adrenaline pumping (sound familiar?). Her older sister has a severe migraine disorder which has proved absolutely resistant to drug treatment. I’ve tried to persuade this sister to try a low histamine diet (her current diet is a histamine time bomb) but she’s actually a chef and “loves her food” too much to give it up. She must love her migraines too then, because I’m convinced a low histamine diet would help no end! Neither my Aunt or her daughters had any signs of Ehlers-Danlos, so I’m not sure why they’d have mast cell disease, but I’m convinced they do.
It’s easy to see now that my Mom and I share a disease history, but it’s only with the benefit of hindsight that it’s become so obvious. There are also glimpses of hypermobility in my ballet dancing cousin and my other cousin’s sub-luxing hip, and possible mast cell issues in my Aunt and both her daughters. I hope by sharing this post you can look for signs in your own family members, particularly children, as early intervention helps with prognosis.