Topic: Anyone with Chiari and Ehler's Danlos? How to tell what symptoms are what!
ktkdommer
Frequent Contributor (1K+ posts)
Member # 29020
posted
My 22 year old son who was very sick with Lyme and treated for years was not getting well. During an MRI last fall, they discovered a Chiari Malformation. I went on to be diagnosed with Ehler's Danlos Syndrome after learning more about his condition and EDS causing Chiari.
He saw a neurosurgeon at the Cleveland Clinic and has been diagnosed with EDS also. His Chiari is not significant enough currently to warrant surgery. I would argue his quality of life is poor as a young man.
Now I'm confused as to what is causing his remaining symptoms and if having EDS or Chiari somehow limited his treatment progress.
Anyone else dealing with this?
-------------------- Things are never dull. After 3 fighting Lyme, 2 are in remission. Youngest is still sick, age 22. He has new diagnosed Chiari Malformation and Ehlers Danlos Syndrome. Posts: 1366 | From Perrysburg, Ohio | Registered: Nov 2010
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posted
Has he been evaluated for Mast Cell Activation Syndrome or Mastocytosis??
MANY with EDS also have MCAS.
-------------------- --Lymetutu-- Opinions, not medical advice! Posts: 96222 | From Texas | Registered: Feb 2001
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Rumigirl
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Member # 15091
posted
A LL neuro I saw in the past said, when I said that I thought that I had undiagnosed EDS, that it could be acquired by TBD's, not just genetic----for whatever that is worth. This was his opinion, of course.
I have yet to look into MCAS, as I already have more to deal with than I can deal with right now.
Posts: 3771 | From around | Registered: Mar 2008
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desertwind
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Member # 25256
posted
I have Chiari and have undergone two brain surgeries. Feel free to PM me.
Posts: 1671 | From Tick Infested New Jersey | Registered: Apr 2010
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posted
ktdommer, what are your son's remaining symptoms? Are his remaining symptoms in line with EDS? Is there a possibility of the Lyme and Co's having been undertreated?
Is there a possibility of seeing a good EDS specialist to help you work through what might be what? Might be helpful if you are able to help some of the (EDS) sx and possibly tease out the others.
(I wish I had more... EDS is probably here and hoping we won't have to address it.) I have seen EDS docs mentioned on other sites like we do with Lyme docs here, seems like the field is narrow and a great one is hard to find.
I hope things are able to get sorted for your son so he can experience a full recovery. Big gentle and you guys are in my thoughts and prayers.
Posts: 474 | From US | Registered: May 2014
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quote:Originally posted by Lymetoo: Dommer... But if he has MCAS, proper treatment can help alleviate some of his symptoms.
100% agree with this. MCAS causes issues all through the body. Histamine issues are common with lyme and worth considering, probably for most all of us.
Posts: 474 | From US | Registered: May 2014
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sammy
Frequent Contributor (5K+ posts)
Member # 13952
posted
Hi friend,
I haven't been on here in so long and here's this thread...
I can hook you up with some amazing very well known and highly respected doctors in the field of EDS & Mast Cell Disease.
They practice at Cincinnati Children's Hospital Medical Center.
The first is Dr. Derek Neilson, he is the geneticist that specializes in EDS. He trained for many years under Dr. Brad Tinkle. Dr. Tinkle is THE expert in the field of EDS. He moved to Chicago just a couple years ago.
So now families travel from all over the world to bring their children to see Dr. Neilson. He is incredibly patient, kind, thorough, wise, intelligent... Because of this, it is not unusual to wait many months to see him. It is worth it though!!! Don't be discouraged!
He won't rest until you get the proper diagnosis and treatment for your son! The clinic staff that work with him are wonderful too!
During a typical appointment, you meet with a nurse, then spend a significant amount of time with a genetic counselor, then you will meet with Dr. Neilson.
If your son needs a referral, the Dr Neilson can then can refer you to the best specialist able to handle all of your son's needs.
Here is Dr. Neilson's clinic phone number (513)636-4760 Here is Dr. Neilson's clinic fax ((513)636-0124
Moderators, this is no secret, she could easily find this on the hospital website.
Posts: 5237 | From here | Registered: Nov 2007
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sammy
Frequent Contributor (5K+ posts)
Member # 13952
posted
Honestly, you didn't mention any Mast Cell Disease symptoms in the above post.
On this forum there appears to be some Lyme doctors & family doctors that are diagnosing people without proper testing. (Tryptase levels greater than 20. Elevated mediators. Positive bone marrow biopsies.)
With Mast Cell Disease you can have anaphylactic reactions when your own body produces/ releases histamine or if you ingest too much histamine.
So infection, stress, heat, sun, cold, pain, exercise, showering, sitting, & even standing... so many simple things that are taken for granted can trigger massive histamine & other mediators to be released.
Then there are the foods. Fermented foods. Leftovers. Anything over ripe. Any kinds of smoked meat. Any cold cuts, deli cuts, sausage type meats. Slow cooking or crock potting. Slow thawing. Fish. Tomato. Spinach. Old cheese. Citrus. Yeast. Preservatives.
There are much longer lists for people needing them but for generalization, those are some ordinary foods above could make someone with Mast Cell Disease very very ill, if not threaten their life.
So if your son is having anaphylaxis symptoms (needing rescued by epi) and he's negative for IgE allergies, then you could consider a consult with a Mast Cell Disease specialist.
Dr. J Pablo Albonia is an excellent Mast Cell Disease Specialist. Again, people travel from very far away to see him.
He is also head of the Allergy & Eosinopholia Clinic at Cincinnati Children's Hospital Medical Center. So he has lots of experience.
He is quieter than Dr. Neilson. More of a thinker. He is open to your questions and suggestions. He always takes my thoughts into consideration. He's a great doctor.
The first couple appointments were much longer. Over 2 hours. Now follow up appointments are approx 1 hour with the resident then Dr Albonia himself. Do it is a great appointment. Nothing is missed.
Based on testing and assessment based diagnosis, he will start slowly with medication. Then he likes to follow up every 3-6 months as you need.
Dr. Albonia's clinic scheduling: (513)636-6771 Dr. Albonia's clinic/ Eosinophilia clinic:(513)636-2233 Fax (513)636-4615
Ok, hope that helps!
[ 04-30-2017, 04:35 PM: Message edited by: sammy ]
Posts: 5237 | From here | Registered: Nov 2007
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sammy
Frequent Contributor (5K+ posts)
Member # 13952
posted
Oh, and don't worry about your son's age.
These are very very rare diseases. If your son has EDS or a form of Mast Cell Disease, the physicians will follow him for life.
EDS is a genetic disease. An infection cannot cause it. (From discussions with Dr Brad Tinkle & my LLMD.)
Major infections like Lyme are known to exacerbate problems like collegen instability & joint weakness. So it can easily bring out & worsen the symptoms of EDS that a person would already have had.
When diagnosing EDS, they want you to be able to look back to early childhood to see obvious signs of the disease. It does not start abruptly like an infection.
Posts: 5237 | From here | Registered: Nov 2007
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ktkdommer
Frequent Contributor (1K+ posts)
Member # 29020
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Thanks everyone. Since I have EDS, I believe it to be genetic.
I have done a TON of reading and joined 2 very informative EDS and Chiari groups. Lots of lists for Mast Cell and it doesn't seem to fit. I would have to believe his very competent ILADS doc would have picked up on it. He does have MTHFR as do I.
His remaining symptoms are cognitive- poor memory and processessing abilities. Also, weak legs, muscles, fatigue but not like before. He has back pain from protruding discs etc... Also depression! We both are slow to heal and have a lot of creaky joints.
My son did 9 months of IV abx followed with intense Burroscano type treatment, hitting Babesia and Bart and Viruses while boosting his immune system.
He also did 6 sessions of high dose IVIG for PANS.
I'm in Ohio and versed on our local specialists. Insurance allowed Cleveland Clinic so we got a second opinion there. His Chiari is 7cm.
The next step is to get a sitting up MRI in February, otherwise his laying down flow study wasn't too bad.
The Cincinatti docs including the geneticist is on year long waits. Some will do 2nd opinions over the phone with MRI studies being sent to them first. I'm looking into this.
I am finding good Chiari docs may just be harder to come by than Lyme docs. EDS is not a mainstream type diagnosis quite yet. Not much research on the subject. May be why he has cognitive issues and why SSRIs never help.
I had just kicked Lyme disease's butt and get hit with EDS. I have a broken ankle that is not healing. Not sure what my future holds and I worry about my own Chiari forming or dropping. We haven't ruled out vascular Chiari without genetic testing which insurance won't improve.
I am taking notes on replies. Thanks again!
-------------------- Things are never dull. After 3 fighting Lyme, 2 are in remission. Youngest is still sick, age 22. He has new diagnosed Chiari Malformation and Ehlers Danlos Syndrome. Posts: 1366 | From Perrysburg, Ohio | Registered: Nov 2010
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sammy
Frequent Contributor (5K+ posts)
Member # 13952
posted
Trust me, get your sons referral in to Cincinnati for Dr. Neilson. Once you get scheduled for your initial appointment, call the clinic directly.
They have a cancelation list. People have all kinds of unexpected family emergencies. No one wishes bad on anyone else of course! The clinic just acknowledges how precious those appointments are.
I recently gave my appointment up. My mom nearly died... So my medical care is on hold.
You just do what you got to do.
Since you're driving, you could check out wait lists for Dr. Brad Tinkle over in Chicago. He's really wonderful too.
Posts: 5237 | From here | Registered: Nov 2007
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and you guys are in my thoughts and prayers.
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