This post is sponsored by the AHCF in honor of Rare Disease Day.
When I was younger I saw a movie, Lorenzo’s Oil, that really stuck with me. It was about a boy with a disease that – because it was so rare – the medical community had spent little time or resources trying to cure. There were “bigger fish” to focus on, so to speak, and a disease that only affected a small portion of people wasn’t a priority. It was heartbreaking to watch the boy’s parents fight against bureaucracy and red tape, trying their damndest to get attention for their son and other kids like him, any attention at all… from any doctor. The idea that someone could fall through the cracks simply because their disease wasn’t as well known as others was terrifying.
Years later, after Madeline passed away and my medical team was trying to figure out why I suffered a premature rupture of the membranes, I was diagnosed with a clotting disorder, antiphospholipid syndrome (APS). APS isn’t a rare disease, but it was definitely the least-known medical issue I’d ever had. When I’d tell a nurse or doctor I had APS, they were sometimes unfamiliar with it or had to run off to do research to reacquaint themselves with it. The fact that the medical personnel I dealt with weren’t always as intimately familiar with APS as they were better known conditions was unsettling. Of course, what I experienced was nowhere near as frustrating and scary as it is for people who are grappling with a truly rare disorder like alternating hemoplegia of childhood, or AHC.
AHC is the rarest of the rare, with only 1,000 people affected worldwide. It’s a neurological disorder that causes repeated attacks of hemiplegia (paralysis of a portion of the body) that can last for minutes, hours, or even days. The Alternating Hemiphelia of Childhood Foundation is a non-profit founded in 1995 by the parents of children with AHC. These brave parents refuse to let the medical world ignore rare disease, and have made it their mission to find the cause(s) of AHC, develop effective treatments and ultimately a cure, and provide support to the families and children with AHC.
To learn more about this particular rare disease or to donate to AHCF to help find a cure, click here.
You can also view the AHCF mission video here.
Have a personal story or experience with rare disease? Please share it in the comments.
Elizabeth McKinney says:
I have a very good friend whose two youngest children have the very rare Shwachman–Diamond syndrome. Like cystic fibrosis, both parents have to be a carrier. It was very difficult to diagnose and her daughter (who was the first to be diagnosed) almost died due to malnutrition. Pancreatic insufficiency prevents the body from digesting food right, so she was literally wasting away. Her kids are super tough and so so sweet and I pray they have a full healthy life with as little
complications as possible.
Sara says:
My husband has hemochromatosis, which is a blood disorder where your blood holds in too much iron. It’s not super rare, but rare enough that when I asked a doctor about when I should have my daughter tested for it, since I know it’s genetic, she said we’d need to give her iron supplements if she did. I’m like, uh, I need a new doctor since that’s the exact opposite problem. Our new pediatrician had heard of it, but wasn’t as knowledgeable, but by our second appointment he seemed like an expert, because he’d gone out of his way to educate himself about it. It’s nice having a doctor that cares.
Susan says:
A very good friend has a daughter with the very rare, and incurable disease Fibrodysplasia ossificans progressiva. IFOPA.org is the information and fundraising site.
Kate says:
About eight months ago, I was diagnosed psoriatic arthritis, an autoimmune disease that effects less than 1% of people (and only 5 to 10% of the people with psoriasis). It’s been super frustrating because my rhuematologist was like, “So, here are your two treatment options, both suck, which sounds more delightful?” I mean, I can’t complain too much because my medication controls it pretty well, but it’s frustrating that it has so few options when other similar diseases (like rhuematoid arthritis) are better known and offer more options.
That said, I think it’s becoming more prevalent–or at least, better-diagnosed–because there’s a commercial about a medication for it starring a famous golfer. I kind of get a kick out of seeing it, because I’m like, “Hey, you and me, we’re bad-joint bros.” And then I want to trade a fist-pound with him.
Melissa says:
My sister has it, and the medications do suck. The famous golfer advertises Embrel, which has left my sister with MS. Be careful and really research what the side effects are because they arent as rare as what big pharma tells you.
Kate says:
I’m not taking Enbrel, and I did a lot of looking into the medication I am on to see what it could potentially do to me. I mean, there’s a slightly elevated risk of a couple cancers with it, but none of the possible autoimmune backlash that I think comes with Enbrel. Even if I am still stabbing myself with a needle (which is miserable).
Jennifer says:
My mom has psoriatic arthritis. She was diagnosed when she was 28, right after having me. She’s 57 now and is no longer able to drive or walk without a walker. Very devastating. Since it is genetic, I’m always paranoid about any little pain I get. Now that I have kids, I’m worried about them too! It’s a scary disease because there isn’t much treatment out there.
Kate says:
Oh wow, your poor mom. That is awful. I’m really grateful that I went to the doctor not super long after I started having symptoms, and that I’m on medication that helps prevent joint damage. I honestly would’ve put off seeking treatment if I hadn’t been studying for the bar exam at the time and NEEDED to not be hurting, and I hate to think what it would’ve been like if I had waited. (My family kept saying, “You’re just sore, you’re almost 30, that happens.” And I kept saying, “I’m almost 30, yes, but something is not right about how sore I am.”) It’s a lot less unpleasant with my medication, and at this point, I am sort of at peace with shoving needles in my leg regularly! But I hate that, because it’s rare, there’s just very few options. And although it is meant to have a genetic link, I am the only person in my family that has psoriasis or psoriatic arthritis, so I am not sure I believe it’s SUPER genetic. Either that or I somehow pulled the genetic trump card.
Megan says:
One of my colleagues was diagnosed with a very rare disease when she was five or six months into her pregnancy with her twins. I wish I could remember the name of it. As I recall, it meant her liver wasn’t working well and bile was backing up, causing very intense itching, and there was a risk of sudden death for her babies.
She was already getting her care from an academic medical center with a top-level NICU, but most doctors had never seen this condition before. She found a couple of online groups for moms with this condition and got more info from those than she could from her doctors. Medication had been prescribed for her itching, but it wasn’t effective enough, and she found some journal articles that suggested it was safe for her to have higher doses. But her doctor was dismissive and, she said, wouldn’t even read the articles.
Thankfully her babies were born full-term and healthy, but she was constantly uncomfortable and terrified for the last 3 months of her pregnancy, in part because she never felt she was being taken seriously by her doctors.
Heather says:
I just wanted to comment that I also have this same issue. I bet her disease was called PSC (Primary Sclerosing Cholangitis) it is very rare affecting 1 in 100,000 people. I am hoping she is getting good care from a gastroenterologist or hepatologist. I had issues during my pregnancy because of this and I can only imagine how scary it could be if you didn’t know the cause because it is very risky for the babies. if this is her disease let her know that there is a support group available called PSC Partners seeking a cure on facebook or there is a website. http://www.pscpartners.org/
Tamara says:
It may have been ICP (Intrahepatic cholestasis of pregnancy). I had it with my last 2 pregnancies. The medication is Ursodiol. There is a very real risk of third trimester loss. My twins were born premature at 31 weeks because of it and my son had a very rough NICU course. The itching is literally unrelenting but the fear of losing your babies is far worse. It goes away after delivery but has a high risk of coming back in future pregnancies. There is an association with later developing PBC (primary biliary cirrhosis).
Shannon says:
I’m a speech pathologist, so I see a lot of kids with a variety of rare disorders and syndromes. I work at a children’s hospital and it’s incredible to work in a place where we truly have experts in some of these little-known diseases. Out geneticist never fails to amaze me I what she knows and can communicate to families. My friend’s son has tuberous sclerosis, which is a rare disease that causes lesions in the brain that result in numerous seizures. They now have him on a special diet that has hugely helped and he is doing so much better now. My heart goes out to every family dealing with a disease, especially a rare one.
Sarah says:
Megan, the condition you describe is called cholestasis.
JennS says:
My aunts and my mom have Sjogren’s Syndrome. It is an autoimmune disorder that looks like symptoms of lupus, scleroderma, neuropathy, rheumatoid arthritis… any number of things. It causes areas of the body to dry out, so my mom lost all of her teeth and my aunt has to use eye drops constantly to keep her tear ducts moist. My aunts are part of a study because they have been told that while Sjogren’s is genetic, it usually only affects identical twins. (I haven’t actually found any information on the twin fact, but that is what my aunts have told me.)
Jess says:
When I was 10 I has Guillian Barre Syndrome and was paralyzed from the waist down. At the time only people in their 20’s and the elderly got it. It was terrifying. Doctors didn’t know what was wrong with me. I survived and can walk now. But I can never get a flu shot or tetnis shot. I have to tell every doctor I had it. Some have to research it. Some shits these days that are “recommended” have to be researched to make sure it’s safe for me because it could send me to a relapse. It’s scary.
Cecilia says:
My 5 year old daughter is a inutero stroke survivor. Many nurses and doctors surprise me by being surprised and asking questions. Yes babies and children can and are stroke survivors.
My daughter had left sided hemiparesis/hemiplegia. Her left side is very weak and some doctors use the term hemiparesis and some use the term hemiplegia. We feel paresis fits better for her.
Which is why I find it extra surprising I have never heard of ACH, thanks for spreading awareness.
Lora says:
My good friend’s son passed away at the age of 12 from complications from Shwachman-Diamond Syndrome. It took almost a year to get a diagnosis for him and he lived a full, fun-filled life until June of 2008. He passed away in August of 2008.
My daughter has the genetic type of dilated cardiomyopathy, as do my uncle, my aunt and a daughter of my cousin. My Uncle has had a heart transplant and luckily my daughter is doing fine, managed with medication.
And, because we must like to be the family with strange conditions, when I injured myself 11 years ago, that injury turned into the hard-to-diagnosis, often mis-diagnosed painful condition of CRPS. This year I had a spinal nerve stimulator implanted and am recoving from that surgery now.
Allison says:
I’ve had my spinal cord stimulator since November, and I LOVE it! It has made a HUGE difference in my pain level. I hope you have great results too!
Erica Rose says:
I have 2 officially rare diseases, Ehlers-Danlos, and carcinoid tumor. Thank you for raising awareness for us medical zebras!!
Heather says:
A few years ago we became acquainted with a woman named Brianne. My husband was asked to help with a special recording that she was doing to spread awareness for a rare condition that her child has. Her oldest daughter, Kenadie, has primordial dwarfism.
Only 100 cases of PD are known to exist world wide and come with a host of associated issues.
Kay says:
Was that the girl they did the tlc special about? I remember watching the special a few months ago and was both fascinated and horrified by the disease. The family and the little girl were so amazing.
Lee Sofia says:
my 21year old daughter has AHC.
Emily is managing to live a
quiet happy life. we have managed her care, with monitoring from doctors in different areas. there is no services for these in-between medically complex people. if you don’t have family and friends to build a support system there is nothing for them to do once they get out of school. I wish that people could just smile and talk to special needs people with respect and give them some joy in their days.
Kristi says:
I have Granulomatosis with Polyangiitis (Wegener’s). It causes inflammation of blood vessels, restricting blood flow to the organs. I lost partial hearing in one ear, had a mass in my lung, and kidney failure. There is no known cause or cure, but with treatment I was able to go into remission, which basically means the disease is not active right now. I have been blessed to have an excellent team of doctors working with me and an extremely supportive family.
Dre says:
I have a bicornuate uterus, which is fairly rare, occurring in about .1 – .5% of the female population. It wasn’t discovered until I was pregnant with my first, and fortunately I was able to carry both of my kids to term. The problems came afterward… I hemorrhaged severely 2 weeks after I had Blythe. No OB-Gyn in a 500 mile radius had ever done a D&C on a bicornuate uterus, so my surgery was attended by 5 OB’s, an ultrasound tech, a general surgeon as well as the usual surgical support staff. I hemorrhaged severely during surgery and lost a liter of blood before they could figure out how to get the bleeding to stop. I ended up having 7 pints of blood and 1 pint of plasma transfused, and spent a good amount of time in the ICU. Luckily, even though none of the doctors had ever dealt with my condition before, they were able to save my life – I am so grateful that they “overstaffed” my surgery! These days I have a severely collapsed, deformed uterus that needs to be removed, but until recently I couldn’t get insurance due to my pre-existing condition. I’m happy to say I will have insurance beginning April 1st! And then I’ll attempt to find a doctor who has performed a hysterectomy on a bicornuate uterus. Wish me luck! ;).
Thank you, Heather, for bringing rare diseases to the light and giving those of us who have them an opportunity to talk about it!
Judy Moticka says:
My husband was diagnosed with appendix cancer a year ago–it’s very rare and often misdiagnosed. It’s also known as psuedomyxoma peritonei. Many doctors (including the first one we saw) had never heard of it. It CAN be treated successfully (my husband’s surgery lasted 14 hours with a 5 month recovery period), but there are only a handful of centers in the US that do the procedure, so it is imperative to find an oncologist familiar with the disease.
Julie says:
I friend from high schools son has been in the ICU for 162 days within a unknown disorder. they went on hln now this week to see if other could help them. Here is a link to is story. http://www.caringbridge.org/visit/truettrosenlund/journal/view/id/53100c3da689b4b51d1e8772
Jennifer says:
Poor baby boy. I am now following his Facebook page and hope he finds a diagnosis and a cure very soon.
Allison says:
I have eye cancer. I’m lucky that I live practically next door to the world’s top ocular oncologists (Wills in Philly). I’m frequently the only local patient in the waiting room – I give out lots of restaurant and sight-seeing recommendations! Eye cancers are not super rare, but most cancer hospitals and even sometimes even oncology textbooks don’t treat/address eye cancers.
Most eye cancer patients are newborns/young children or seniors. I was diagnosed at 28. My grandmother died of my type of cancer, but my cancer is not genetic.
My ophthalmologist did not catch my cancer. I self-diagnosed and was in surgery a week later. I am now dealing with metastasis.
Eye cancers can be scary. I’m very happy to speak with anyone about my experience :).
PS: Even on cloudy days, wear UVA/UVB sunglasses and sunscreen! This paper-white, blue-eyed, dark haired girl has plenty of recommendations and always interested in product recommendations from others!
Paula says:
There is a wee boy in NZ with AHUS – Jethro Morrow. He is the same age as your Annie and my Grace. The drug he needs is not funded here, so I have been doing the little I can to raise funds and awareness. It seems so sad to me that a mother has to say “I wish he had leukaemia because at least he would get treatment”
Lynn says:
My 23 daughter has AHC as well. We have managed with programs that some what meet her needs. We have a great support system as well but daily support can be challenging. Kathleen does have the gene mutation discovered two years ago. Hopefully a treatment will be discovered soon.
Cathy says:
FPIES – food protein induced enterocolitis syndrome
The food allergy nightmare that can look like a stomach bug the first couple of times and that there is no definitive test for.
http://www.fpiesfoundation.org
Sue says:
We had a new second grader enter our school with obvious motor control difficulties. He had recently been placed into the “system” and had an awesome foster mom that took him to endless doctor appointments. His final diagnosis was AHC. Sadly the progression was so advanced he declined rather quickly. He only lived about a year after his diagnosis. Earlier intervention and a quicker diagnosis would have prolonged that sweet little boy’s life.
Lynn says:
While AHC is very complex, there must have been other circumstances that contributed to his decline. An earlier diagnosis may have not changed the outcome.
Karen says:
My dear friends, Kristin and Justin, lost their two sons, Matthew (age 5) and Andrew (age 2) to a rare immune deficiency called HLH. They have since established a foundation in the boys honor (www.matthewandandrew.org) to raise awareness of the disease, funding for research, support for families affected by HLH, and support/awareness for the National Marrow Donor Program (Be the Match)
I have often come to “The Spohrs Are Multiplying” and read a post regarding grief or the death of a child and immediately called Kristin and said: “Oh my gosh! We just had that same conversation yesterday/last month/ten minutes ago!” So, thank you, Heather and Mike, for sharing your life and struggles with us. And for now allowing me to share a rare disease in your comments section.
Jennifer says:
I am currently working with an infant with a condition called Panhypopituitarism. In his case, the stalk of his pituitary gland is missing or severely damaged, affecting his ability to make and regulate hormones in the body. It affects his thyroid, adrenal system, sodium levels, testosterone, and growth hormone.
He looks like a completely typical, healthy baby. But his well being requires a closely monitored system of medications, blood checks, and consistent routine. His condition can become life threatening very quickly. There is no treatment or cure, other than manually replacing the missing hormones through medication.
Becky says:
My husband’s uncle and his two children had Ehlers-Danlos. Our own son has Klinefelter’s Syndrome — not super rare — 1 in 500 males has it. However, there isn’t a lot out there for information. His pediatrician has been amazing.
Erin says:
My daughter was born with bladder exstrophy (bladder outside the body). We had no idea until she was born. We were extremely fortunate that one of THE experts in BE was at CHW where she was transferred. She also had seizures starting when she was less than 6 hours old. We never found out a cause for the seizures but she seems to have outgrown them (she’s 5 now). The effects from the exstrophy, however, are still being dealt with. She LOOKS “normal” but has little bladder control which means at 5 she’s still in diapers because she physically cannot stop the flow of urine once it starts (and she rarely can feel when she has to go)
jocelyn says:
my dad was diagnosed with GIST. he is doing well after a complete resection. he has to take a pill forever to keep the cancer from coming back.
you can read more about it here: http://therare13.com/what-is-rare-13/
Lisa says:
I have Neurofibromatosis type 1, my sister has Neurofibromatosis type 2. She just went thru her second major surgery to remove a 20lb tumor from her neck and sholder (doc’s thought this would kill her she is 46 and going strong) My oldest son had 2 major spine surgeries due to tumors on his spine, the tumors were so large they moved his spine into a question mark until they double rodded his spine.
My husband has done marathons for years in order to help raise funds for this disease.
CTF.org (Childrens tumor foundation) take a peek, its very informative and inspiring at the same time. Togther we can find the final piece of this puzzle.
Chris says:
I have reflex sympathetic dystrophy, which is a nerve and pain disease, so far that I went to doctors solidly for a year, I was 18, before getting diagnosed at UCLA. Even then no one could tell me a prognosis or treatment. I went from being aan avid fleet with offers of full ride scholarships to being told I’d never walking again. I do walk, but I also love with w hat half a dozen doctors have called “the pain whose than cancer”. I’ve spent over half my life this way. I’ve been through more ttips of treatment than I can count, and finally drew the line at doing anything else invasive after spinal blocks almost killed me. I’ve been an advocate I’ve spoken to hundreds with this and I’m one of the lucky ones. I’m still alive and I am not on disability though I do work from home and avoid crowds, since any kind of touch to Mt affected body parts is like hiring a raw nerve in a cavity. That got long, sorry I’ll get off my educational soapbox now. Thanks for giving rate diseases their day.
Kristy says:
My grandson has Hemimegalencephaly. He had a hemispherectomy at 14 months to control seizures. He is globally delayed and the happiest little guy I’ve ever seen.
Heidi says:
My husband has APS as well. It may not be rare, rare but it’s definitely rare enough that, like you said, some doctors and nurses have to get some extra information on it before treating him. Thank you for sharing your story.
Sandra says:
My dad was clinically diagnosed with Hereditary hemorrhagic telangiactasia, a disease that causes avms (arteriovenous malformations) which can cause severe internal bleeding, blood shunting, and severe nosebleeds ( to the point of needing transfusions) His liver is severely effected, which is causing issues with his heart. We are currently in the process of getting him on the transplant list for a new liver, but need to get some other issues taken care of first. I go in next month for mris to see if any of my organs are effected, but I have severe nose bleeds and anemia ( have had manybleeds lasting 3+ hours)
Heather Bixler says:
My husband was diagnosed with a rare disease called achalasia about three years ago. He had surgery to try and help with the symptoms, but it didn’t help. The doctors have told us the only other option is to remove his esophagus. It breaks my heart that people have to suffer through these diseases, and most of them are chronic and affect their quality of life. When my husband was in the hospital for his surgery the nurses couldn’t even pronounce the name of the disease. It is a little baffling to think you know more about your husband’s disease than the medical community. All of this has made me personally struggle with feelings of hopelessness and my faith. But things are looking up and my husband inspires me everyday. He is a firefighter and in more ways than one he has truly become my hero. Thank you so much for putting a spotlight on rare disease day and AHCF!
samantha says:
I have Neurofibromatosis (NF) which isn’t rare in the number sense of view but here in Michigan it’s rare enough that the only doctors that REALLY know about it are at University of Michigan (UofM) hospital and that’s in Ann Arbor. I live about 4-5 hours driving time from Ann Arbor and so it’s not realistic for me to have a “regular” doctor there so whenever I get a new doctor, it’s hard to explain what it is exactly. My doctor now when I first met her, didn’t think that it was a big deal and I almost switched doctors because of her flippant attitude but she started having a better attitude about it after my mom and I explained exactly what it was. My mom is convinced I have NF1 but in order to know exactly, I would have to have genetic testing done but I can’t afford it. The doctor that I had as a child told her that I most likely had NF1 because it’s the only one out of NF (there is NF1 and NF2) that shows up in childhood and that’s the one that is genetic. I passed it on to my daughter when I was pregnant so that’s also why the doctor is convinced I have NF1 and there is no cure for either 1. It’s not a good thing to have and there is nothing you can do to stop it from happening or to stop it from progressing into cancer.
Ali says:
At 7 my son was diagnosed with Cold Urticaria. Cold (weather, water, etc) cause him to break out in hives. He is literally allergic to the cold. The allergy can lead to anaphylaxis so we take it pretty seriously. Luckily, he doesn’t react to cold food. Many people will outgrow this, but he’s had it for 5 years. He deals well with it and benedryl is our friend. He also has food allergies so we have epi pens on hand, too.