July 27, 2020, my 30th birthday, is that day that my life changed forever, when I found out that I had a condition called Budd-Chiari Syndrome and that I would need a liver transplant. It was caused by an underlying genetic blood clotting disorder. I have to drive 4 hours from where I live to the Mayo Clinic in Jacksonville just to receive treatment from a physician that has treated my condition. I am very fortunate to be able to even receive such treatment. I have learned so much on my journey. From what an "orphan" drug is, to finding out just how difficult it is to be waiting for a transplant.
Proof: https://imgur.com/a/CVRZ4rr
Technically a spoiler for UWorld ID17851.
I don't get how blocking the portal vein doesn't cause ascites but blocking the hepatic vein does. Since the portal vein is proximal to the sinusoids, wouldn't thrombosis there back up into the gastric veins and cause ascites? Conversely, since the hepatic vein is distal to the sinusoids, wouldn't it be LESS likely to cause ascites since the obstruction is further from the gastric veins?
Is there anyone in here that has Chiari and has also been diagnosed with EDS? For years, my sister in-law thought I had EDS because I’m hyper flexible and most of my joints easily dislocate. I brushed her diagnosis off until recently. It was after my decompression surgery (almost 3 months post op) when I came across an article about the connection between EDS and Chiari Type I. The surgery has definitely helped my Chiari symptoms so far. Relief from Chiari headaches and the ability to think more clearly (less brain fog). From the research I’ve done on EDS, I seem to check every box. Even my family says it sounds like it could be something that runs in our family based on the issues many of my relatives have suffered from. I am going in to a geneticist to get tested for EDS in April. Im nervous! I understand there’s nothing that can me done to treat EDS but there are several different types which can affect one’s life in varying degrees. I figure it’s good to know so I can be proactive if other health issues arise that could also be linked, or worsened, by EDS. I am curious to know if anyone has been diagnosed with both.
My name is Quinn and I am a 14 year old girl who has been debilitated by a genetic condition called Ehlers-Danlos Syndrome (a connective tissue disorder), which lead to having a tethered spinal cord, severe scoliosis, and a chiari malformation in the brain. I am in need of surgery to untether my spinal cord, and then decompression surgery to relieve the pressure in my brain. I spend every day with severe pain, back spasms, muscle cramping, and am unable to stand upright. I have lost my hearing in my left ear, lost the ability to read as my vision is blurry, have frequent seizures, insomnia due to the pain. Below are pictures of my x-rays and MRIs, and a link to my donation page for further proof of my condition, not necessarily for donations, unless you're feeling generous. Now, ask me anything.
http://imgur.com/gallery/G3Lrm https://www.facebook.com/pages/Quinn-Merritt-Fundraiser/445417745494212?ref=ts&fref=ts
Sorry if this is the wrong place to post, but I figured you folks might have some insight.
My brother was born with a host of strange problems that have never been officially diagnosed as a "genetic syndrome," but I strongly suspect they are. He's now trying to get SSI/disability and is having problems due to lack of a diagnosis.
Here's a list of symptoms and separate conditions he has:
-Breech birth
-Cleft palate
-Pierre-Robin Syndrome
-Undescended testicle
-Chiari malformation
-Immune problems
-Arachnoid (brain) cyst
-Sleep apnea
-Fused toes (2nd and 3rd toes on left foot)
-OCD, Aspergers and anxiety
Does this sound like a genetic condition? If so, which one and how would we go about getting a diagnosis? Any info appreciated.
Thanks!
I was informed by my doctor a couple days ago that my C4, C5, and C6 vertebrae have sustained some damage due to my chiari. I wanted to do some more reading but can’t find any references or docs on the relationship between chiari and vertebrae damage. Anyone else have this issue, or have any resources for me to look into?
Additionally, I have a follow up meeting with my neurosurgeon soon, what are some questions I should be asking? I haven’t decided fully on the surgery or the waiting game.
Thank you!
I am active duty Air Force and was diagnosed with Arnold Chiari Malformation 1 with a 10mm herniation. I have been referred to a neurosurgeon and am wondering if anyone else has gone through this and what the military will do. I have several symptoms.
My son (10 y/o) was diagnosed with chiari 1 7 yrs ago. He has been having severe rage and depression since October with no known cause. Inpatient acute care, therapy, meds, nothing has helped. E only has occasional headaches and has central sleep apnea. We have seen neurosurgeons at our nearest childrens hospital (Pittsburgh) but I feel an expert is needed. Any help is appreciated. Except that one jackass on here that likes to spew ignorance.
Does anyone here use nootropics to help with cognitive functions, especially how Chiari affects that area? I’m currently using NOW Alpha GPC in hope for better memory, but haven’t seen any changes yet. Might be early still. Or maybe we’re not supposed to use these brain enhancers? I’ve been trying to do more research if the two have a negative affect when combined, but have yet to find that information.
Hello everyone. I was just diagnosed 3 months after having my second baby. The symptoms (mainly throbbing headaches and dizziness) started after I gave birth to my second. I had a long (43 hrs), strenuous, unmedicated labor & delivery. I really have a feeling that my labor & delivery kick started my symptoms, and possibly made my cerebral tonsils go lower (currently at 7.5mm). I also want to have more babies, but am now super scared of the tremendous pressure that labor & delivery can have on my brain and possibly worsen things. If any other mom has had a similar experience or has a bit more insight, please share!
Never thought I would be so excited for brain and spine surgery, or that it would give me so much hope. But I have been in so much pain, and had such extreme nerve and autonomic system symptoms, I was planning suicide for January, after the holidays. It all kept getting explained away as part of having vEDS, and no one was looking for answers. "You'll just have to live with it." Finally found a doctor who would give me decent pain meds, but to make the pain bearable at all, I was becoming Junkie Mom. This pain and these symptoms are unbearable, I had no hope of anything ever getting better, only the continued worsening of symptoms, and I was starting to genuinely think my family would be better off without me. And part of how I see myself is based on my intelligence and education, but I have been losing my memory and cognitive function, and I was terrified about losing who I am. I was afraid my husband and kids would end up being caretakers for a mean stranger who used to be their wife and their mom. But Chiari Malformation is from [back part of the brain I can't remember the word for] being pushed out under the skull and into the spinal column, putting pressure on the brain stem in the process. It explains the memory and cognitive problems, nerve pain, extreme variations in my heart rate and blood pressure, extreme headaches and neck pain, major metabolism problems, sleep apnea, even stopping breathing while I'm awake...
I could end up with a quality of life, physically, that I've never had before. I might not need the pain meds at all, or at least lower doses. I might be able to go back to work. I might be able to be present for all the things with my kids, like band concerts and teaching them to drive. I might get to feel like a human again. I might get to live again.
I have hope again.
Edit: I looked it up; it's the cerebellum. I guess it's better than the day I couldn't remember the name of the woman who has been my best friend for 34 years, since we were 6 years old.
Hello Winnipeggers. I know this is a bit of a longshot but I was just diagnosed with a chronic illness/brain malformation called Chiari Malformation 1 and am looking for some folks who have navigated the healthcare system with this condition. I've been symptomatic for 8 weeks and am looking for people who have found care providers familiar with treating this and generally a community of people to share information and experiences with. Feel free to comment or PM me. Thanks 😊
So I’ve been experiencing cough headaches or Chiari type headaches for six years now. I waited a pretty long time to get it checked out because I really didn’t know how to even explain it. My cerebellular tonsillar ectopia is only 3mm and my neurosurgeon explained that I wouldn’t benefit from the surgery where they remove part of your skull because I don’t really have the crowding issue. He said that what causes the symptoms is actually spinal fluid blockage and gave me an order for a csf flow study and mri of my spine, but he’s not expecting to see anything wrong. My confusion here is that if nothing is wrong, why am I having these headaches? They can occur 12+ times a day sometimes and have really been affecting my quality of life. Does anybody know of any other reason I could be experiencing this? I’m feeling pretty hopeless and like I’m just going to be living this way for the rest of my life.
