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How do you convince people your not crazy or naturally the shape of a pufferfish

mpar745 Message
2 Oct 2016, 11:05 AM

Hi everyone, its been a great source of comfort finding the rareshare site and reading all the information and discussions the SCLS community have posted. It makes me feel less alone and a bit more hopeful that I might be able to recover some semblance of a normal life. So thanks everyone! I thought I would shared my story with you all and pick your brains about how to get a definite diagnosis and treatment plan in place. I'm based in a small town in New Zealand and am quite isolated by my ill health as well as my geographical location. Over the last year I have gone from being an active 33 year old working in a job I love (as a university professor), playing sports and exercising daily (soccer and swimming), and living in my own apartment, to being an invalid on indefinite sick leave, struggling to do small things like walking round the block or doing the laundry, and living with my parents. So I feel like I've lost my identity and life because of my illness, and am now at my wits end. I have been experiencing episodes of swelling on a cycle of roughly every 5-7 days for last 8 months. The longest I've gone without swelling is about 3 weeks. Most episodes are not as acute as many people on this site experience (no ICU stays) but still have been very frequent and worsening and are taken a toll on my body (both physically and mentally). Numerous ER visits, specialist appointments and procedures have left me having little faith in medical profession. All the other swelling disorders have been ruled out, and two immunologists have suggested that I have SCLS. However both immunologists are largely unfamiliar with the condition and have never treated anyone with it. So they don't even know what tests to run or what to do. I'm being admitted to hospital next week for further investigations and would like to know what tests and procedure get run on people visiting research facilities such as the NIH or other. I was originally treated with numerous medications designed for idiopathic angioedema to no or minimal effect (rantitidine, telefast, colchicine, plaqunil) except for steriods (prednisone, methyprednisone) which helped to interrupt swelling/leaking but did not prevent attacks. I was given one course of IVIG 1g per kg (70g total) over one day in May. Although I had a reaction to IVIG, nausea and vomiting and fever for three days following treatment, the IVIG did work to reduce swelling. I rapidly "deflated" and felt so much better. I had minor swelling episodes over next month or so. But my weight was returning to normal and I no longer looked like a puffer fish. Was feeling better, my hair started to grow back (it had all fallen out) and was able to do things (shopping, walking the dog etc). Then at start of September another attack started and now its back to a 5 day cycle of hell. I have been on high dose steroids since June and am tapering down the dose, but steroids do not seem to be doing anything to prevent the attacks. I realise that IVIG might be best option to try but don't think the treatment is funded by the NZ government. For those of you who experience mild to moderate attacks how do you get doctors to take you seriously and get the appropriate treatment. Any handy hints? P.s I apologise for any proofreading errors - I'm dyslexic and grammar and spelling are not my friends
rnolan Message
3 Oct 2016, 04:52 AM

Hi I am Ruth live in Christchurch NZ and have ISCLS (you can read my profile) I am under a haemotoligist and feel that is you best bet. IVIG is fully funded in NZ and I have been having it since February 2015 every 28 days. Not sure where you live however best advice is to get to a main centre/hospital and ask for a correct care plan. If you are already seeing an immunologist you need to get them to refer you to a haemotoligist . Get them to read all info from this site and I am sure you will receive the help you need. Ruth
Jcarson Message
5 Oct 2016, 06:05 AM

hello mpar, sorry to read your story, but believe me, there are positives out there. the first is that you have found somebody who has a similar distrust of capitals and grammar. having said that, ruth (above) knows her way around the traps in nz, and what she says is true. IVIG is available, and really is the only answer. if you have to travel, you can even get it in OZ where I am located. hang in there, and good luck John
aporzeca Message
5 Oct 2016, 11:17 AM

I am terribly sorry to hear about your health travails, and I very much hope that one day soon you will receive the right diagnosis and thus the right treatment. I'm sure that both can be obtained in New Zealand, or else in next-door Australia. There are a number of chronic swelling disorders out there, and you are obviously suffering from one of them, but from what you describe chances are that, for better and worse, you do not have SCLS, and so IVIG may/not be the proper or best treatment for you. *I have 3 constructive suggestions for you.* First, persuade your doctors to measure you and your blood for 3 objective conditions on a daily basis before, during and after one of your swelling cycles: hypotension, hemoconcentration, hypoalbuminemia. (It would also be good to test you a couple of times for the presence or not of the MGUS.) For an explanation and further details, see yourself and have him/her read the tab "Disorder Details" in this website. Second, read yourself and have your doctors read the article that is listed in first place under the tab "Disorder Resources": _"Narrative review: the systemic capillary leak syndrome,"_ by Kirk Druey and Phil Greipp, see The full article, which I'll gladly email to you upon request to _aporzeca@american.edu_, has useful tips for how to identify SCLS versus other conditions. And third, have your doctors send via email your medical history with as much detail and as many lab results as possible to the world's leading authority on SCLS: Dr. Kirk Druey at the U.S.National Institutes of Health, email address _kdruey@niaid.nih.gov_, requesting an opinion (consultation) on your case and tentative diagnosis of SCLS. He should be able to guide them and, if you don't have SCLS, to suggest other relevant diagnoses for them to confirm. Let us know how things turn out, OK?
Annmarie Message
7 Oct 2016, 12:15 PM

Hi, I am Annmarie from Sydney, and my symptoms are very similar to yours. I have a leak and retrieve episode every 4-6 days. Various specialists have ruled out all known causes, without any luck. Have you ruled out Hereditary Angioedema, with tests of C4, INH-inhibitor, and HAE type 3 gene study ? Dr Durey discusses in his report, the existence of a milder but more chronic form Of SCLS, as does Dr Clarkson who estimated the chronic version to comprise approx 8-10% of SCLS patients. I find it interesting that IVIG resolved your Edema, on that one trial. Of course it makes you wonder if you took it regularly would it continue to keep your episodes at bay. I have tried many many drugs, currently starting a Danazol trial which will be followed by Aminaphtone. Whilst these are also not like to help, I am leaving no stone unturned. After this my Immunologist has said he will apply to trial IVIG, and I am going to ask him to contact Dr Druey. I will be very interested in how you get on in the future. Please let us know. You can email me if you wish on Best of luck.
Ritz Message
7 Oct 2016, 04:35 PM

Anniemarie Thank you for the formation, I am off of IVIG as I was having a severe reaction right now I am on an ace inhibitor and Singulair. The ace inhibitor is causing other problem. For now,the attacks I am having minor, in a two-week pattern but no hospital time. I will share this information with my doctors.
Jcarson Message
7 Oct 2016, 10:17 PM

Hello Annmarie, I frequently travel to Sydney these days, and every time I have to change my schedule of IVIG, and that is a real nuisance for all. It would be better if I could get my treatment there, right on schedule, either on the North Shore, or in the Parramatta area. Do you have a Dr's name to suggest? John
Annmarie Message
8 Oct 2016, 05:55 AM

Hi John, His name is Dr Karl Baumgart. He is an immunologist, and attached to North Shore Hospital, with private rooms on Pacific Hwy St Leonadrds. I hope that helps. Annmarie
Windows Message
16 Oct 2016, 08:56 AM

HI Mpar 745. I am glad you have found this site. It has been a huge help to me. I am in New Zealand too. I hope you have some success finding an immunologist. I don't know what town you are in. I was in Taupo, now New Plymouth, and consulted with a specialist in Auckland
mpar745 Message
21 Jan 2017, 12:44 PM

Thank you for all your helpful and constructive comments. I was in Auckland Hospital for 6 weeks and i had lovely drs and nurses who were all tremendously kind and hard working. And didn't treat me like a freak of nature but rather as a whole person which was a positive experience after heaps of horrible experiences with drs. I had several major swells, especially of my legs and ended up on a walking frame but no need for surgery so given many of your experiences I consider myself very lucky. Some of the tests you suggested were undertaken but many were deemed unnecessary. Some tests suggested CLS, others did not (something to do with my protein level being fine). All the drs, no matter how nice, found it difficult to get the whole generalised edema thing, which is hard to see if you have seen the person before they were sick. Inital diagnosis was made of chronic autoimmune angioedema, but now since I haven't responded to high doses of cyclosporine or prednisone my immunologist is unsure. And is hopefully going to fully investigate capillary leak syndrome, as well as as other possibilities, when I go back into hospital next week again. Thank you for all your supportive and helpful comments, which made me feel less lonesome in my immunological weirdness.
Windows Message
22 Jan 2017, 01:09 AM

You can contact me if you wish, to share notes. I hope you are feeling better
AnthonyC Message
30 Jan 2017, 10:31 PM

Hello mpar, I signed on to this forum yesterday, so I'm new here, as well. I'm sorry to hear that you've been dealing with so many health problems. What you describe in your post about the chronic systemic swelling sounds similar to my own case. It was only last year that I started making some headway towards a diagnosis after I was referred to an immunologist who discovered that I have a mild primary immune deficiency (low igg-1, which is an antibody). Prior to that, I spent several years getting bounced around from one specialist to another, with no clear answers. Unfortunately, the mild immune deficiency that I have shouldn't be causing my capillaries to leak to the way they do. I suppose I fall into the "chronic leaker" category, although I have experienced several severe swelling episodes over the years that landed me in hospital with very low blood pressure, low albumin levels, myalgia, high white blood cells counts and symptoms of severe dehydration (the skin on the back of my hands becomes very wrinkled and "tents" after being pinched). My doctors tell me that I present like a septic shock patient but without evidence of septic blood infection... Capillary Leak Syndrome has been suggested several times, but the docs who I'm seeing at the moment don't seem to have more than a superficial understanding of the condition. The edema in my case is generalized, except for my hands, as I mentioned, and it leaves "pits" in the lower legs after pressure is applied. My weight can fluctuate anywhere between 20-30 pds in either direction depending on how much fluid I'm retaining. I've been screened for all the common causes of fluid retention such as heart, liver and kidney failure, as well as protein deficiency and hereditary angioedema, but all test results have come back normal so far I'm curious. Do any GI symptoms accompany your swelling episodes? Do you develop any muscle aches or symptoms of extreme fatigue and dehydration? In my case, gi symptoms and the swelling seem to go hand in hand. I usually wind up looking 9 months pregnant when I start to leak fluid. Abdomen becomes very painful, distended and tender and I wind up with diarrhea and severe cramping. Almost feels like a case of the flu At any rate, I hope you get some more answers soon. I empathize with your situation. It's very difficult to cope with disabling conditions like these without a clear cut diagnosis and treatment plan Anthony
kimberoumayah Message
30 Jan 2017, 11:06 PM

Hi Before I was officially diagnosed I was given large amounts of steroids. Dr. Kapoor at the Mayo Clinic said that my albumin (protein) levels could remain normal when taking steroids. I spent 3 weeks at Mayo being tested for anything and everything and the doctors could find nothing else wrong. So I did something very foolish and dangerous while I was at Mayo out of desperation. I weaned myself quickly from steroids and ended up in ambulance on the way to the hospital. I was in full blown capillary leak and my blood results proved that I had SCLS. I also had cellulitis on my lower right calf.Ouch! Ask your doctor if your steroids can keep your albumin levels normal. Hypoalbuminemia ( low levels of protein) is needed to diagnose SCLS. I hope this can help. *Whatever* you do please *don't* follow in my footsteps!! I was not educated enough to realize that I could have *died* as a result of my desperate attempt to obtain a diagnosis. Kimberly
Hiltjo Message
30 Jan 2017, 11:09 PM

Hi, I'am Hiltjo, living in Holland and some of your story is similar, and can be defined as chronic SCLS as well. As you can read at my story, I'm being treated wit imatinib at a daily schedule, for a couple of years, and nowadays rather successfully.!! I've got my life back. A couple of patients are treated like me as well. They are very few. Could be a suggestion, but of course too little persons to be certain .There are a couple of articles on imatinib and SCLS. You can read an article on the site on Cardiac MRI and chronic SCLS, which might be of diagnostic help. If you can't find it, you can mail me. Hiltjo
kimberoumayah Message
30 Jan 2017, 11:32 PM

Thank you Hiljto My liver enzymes are off right now and I am not sure if my Dr. will allow new meds until they resolve this issue. Read your story and wow lots of similar experiences! I will definitely ask!! It is certainly worth a try (: I am on IVIG every two weeks but obviously it isn't stopping capillary leak episodes. I would Love to have my life back! I am encouraged to hear that you are well! Thank you Kimberly
Hiltjo Message
1 Feb 2017, 09:22 AM

Dear Kimberly, One of the articles which were published: Circulation 126(23) october 2012:Effective Treatment of Edema and Endothelial Barrier Dysfunction With Imatinib. Succes, take care. (of course it is off label and side effects with edema are also reported in others) At least your Dr. can contact mine (prof. Kramer, Vumc, Amsterdam). I can give more details. Hiltjo
kimberoumayah Message
14 Feb 2017, 06:43 PM

Thank you Hiltjo I am investigating the information you have provided. I also appreciate your help.
Josephite Message
20 Feb 2017, 10:07 AM

Hi Hiltjo. You mention a few are taking Imatinib. Do you know if they are chronic or acute? IVIG has not been working for my husband. It does bring the fluid back into his circulatory system, thus ending an episode. But, it does nothing to prevent further episodes (and he is now being hospitalized every two weeks...and we are beyond exhausted). Thanks.
AnthonyL Message
8 May 2017, 09:12 AM

I'd like to hear from any other chronic leakers out there. I've been dealing with this condition for several years now and have become quite disabled from it. My docs are just as confused as I am regarding possible underlying causes.

BTW, had to change my username when they redesigned the site, so I am using AnthonyL now instead of AnthonyC.