A: Lupus is an autoimmune disease in which antibodies attack healthy tissue and cause inflammation of the skin, joints, or organs. The Lupus Foundation of America estimates that 1.5 million people in this country have the condition, and 16,000 new cases are reported each year. While men can have the disease, 90 percent of cases are women.
Every case of lupus is different, but one telltale sign of the disease is a butterfly-shaped facial rash that spreads across the cheeks. Other symptoms may include fever, joint pain, fatigue, headaches, and shortness of breath.
Lupus can affect the nervous system – a complication known as neuropsychiatric systemic lupus erythematosus, or NPSLE. According to the Lupus Foundation of America, 90 percent of people with lupus experience the effects of NPSLE; and a new study published in the journal Lupus found that about a quarter of patients with NPSLE have suicidal thoughts.
Anca Askanase, MD, a rheumatologist and clinical director of Columbia University Medical Center’s Lupus Center, points out that symptom severity can range from annoying to crippling. The condition can surface as a one-time episode, come and go with periodic flares, or present chronic symptoms.
“How long it takes to diagnose depends on the initial manifestations of lupus,” Dr. Askanase says. “If someone has kidney swelling or fluid in the lungs or brain involvement, the lupus can be obvious.” However, lupus can be misdiagnosed because its symptoms often resemble other conditions.
“If a person is having more joint pain and fatigue, they might be labeled as having rheumatoid arthritis or chronic fatigue syndrome at first,” Askanase says. “If you’re short of breath, people think you have asthma. If you have a rash, they think you’re allergic to something.”
So what causes lupus? While genetics likely play a role, research suggests that the condition could be triggered by environmental factors such as exposure to sunlight, infection, stress, or a reaction to certain medications.
There is no single test for lupus. The American College of Rheumatology has identified several criteria for diagnosis, including the presence of antinuclear antibodies (ANA) in the blood, skin rashes or mouth ulcers, heart or lung inflammation, arthritis, and neurologic problems.
Lupus is not curable. Depending on symptoms and severity, patients may be prescribed anti-inflammatory drugs, immune suppressants, or a combination of medications.
“It’s a complicated disease, and it’s not easy for people to grasp it,” Askanase says.
The Lupus Foundation of America provides information for patients and caregivers, a guide to local chapters, and other resources on its website.
While 2000 children across the world have been diagnosed with cystinosis, only 18 have been identified in India. The first line of treatment is to put the child on Cystagon, a drug manufactured in Europe. This helps to manage the disease for a while, but invariably renal complications set in and dialysis becomes the next course of action, leading eventually to renal (kidney) transplantation.
What is Cystinosis?
Cystinosis is a rare genetic, metabolic disorder caused by the accumulation of amino acid cystine in the lysosome of body cells which results in cell death. This accumulation can take place in any organ of the human body, but the kidney and the eyes are the generally the most affected. Build-up of amino acid cystine in the kidneys causes tubular defects with loss of many nutrients in the urine, and this leads to growth retardation and eventually, kidney damage. When amino acid cystine is deposited in the eyes, it causes photo-sensitivity and results in blindness. Most symptoms start to develop between 6 and 12 months of age and affect the liver, spleen, lymph nodes, thyroid, intestines, muscle, brain, bone marrow and other parts of the body
Cystinosis manifests as:
Dehydration and excessive thirst / urination
Renal (kidney) impairment
Sensitivity to light
Failure to thrive / slowed growth
Stomach / gastrointestinal problems
When Hariharan came to MIOT
Three years ago, 12-year old Hariharan was brought toMIOT International. He suffered from poor vision, and upon testing, our ophthalmologist found crystal formations in his eyes. The diagnosis was Cystinosis which is a genetic disorder caused by accumulation of amino acid cystine in the body cells.
After Hariharan was diagnosed in 2012, he was put on Cystagon but as his health deteriorated, he was brought back to MIOT International in June 2014. He weighed only 12 kg and was in a very emaciated condition.
Hariharan was started on hemodialysis on a tri-weekly basis, which is very challenging in such a weak and small patient. With a special dialyzer and tubing, the young boy slowly improved and gained 3 kg in weight. However, kidney transplant was the only real option.
MIOT swung into action with the help of donations and aid from the Cystinosis Foundation (India). Hariharan’s father, whose blood matched his son’s, donated one kidney and the boy underwent kidney transplant on 26 May this year. It was a very difficult operation – an adult-sized kidney had to be placed in a small child. Fortunately, the expertise of the surgical team, led by Dr. Paari Vijayaraghavan and Dr. Shanmuga Sundaram, saved the day and the transplantation was successfully carried out with the paediatric anaesthetic team also playing a key role.
MIOT International is happy to report that young Hariharan has recovered well with normal kidney functions today. He comes for follow-up treatment as outpatient. It is important to mention here that this is thesecond time in Indiathat a child with cystinosis has undergonesuccessful kidney transplantation. Both surgeries were performed at MIOT International.
In 2010, it was at MIOT International that such a kidney transplant was performed on a child with cystinosis for the first time in India. The young patient, Master Sanjay, now 12 years old, is growing well and following up with normal kidney functions. As a result of his kidney transplantation, Sanjay has, over the past five years, gained 17 kg and increased 33 cm in height.
Krabbe disease is an often fatal degenerative disease that destroys the protective coating on nerve cells in the brain and the nervous system. This rare disease has effected several families locally including that of Madison Layton who passed away after battling the disease from birth to her second birthday. It is in Madison’s memory that the second week in September will be designated as Krabbe Disease Awareness week.
Krabbe disease comes from receiving two copies, one from each parent, of the mutated gene. The disease often shows in infants but has been known to be delayed and show up later in life. Symptoms include progressive loss of developmental abilities, progressive loss of thinking skills and muscle weakness. Treatments such as stem-cell transplants have shown promise but there is still more work to be done in order to provide care for individuals with this disease.
Krabbe is scientifically known as globoid cell leukodystrophy and is related to many leukodystrophys such as ALS. Krabbe results when cells in the brain start to break down because some of the processes and components in certain cells are not working properly. More commonly doctors see similar break down of brain cells in Alzheimer’s and Parkinson’s. However, these diseases are very different from Krabbe.
Affecting 1 in 100k raising awareness about this rare disease is important in order to encourage continued research to help the patients being impacted by this disease. In Ohio, the legislature and Governor have recognized the need for awareness.
Krabbe disease awareness week is not effective as law until next year but the mission of raising awareness starts now. We must bring attention to this disease so more effort can be put into screening, treatments and potentially finding a cure.
Please give me your opinion on this topic and others in the news this month by completing an online survey at tinyurl.com/buchyseptember2015
The writer represents the 84th District in the Ohio House of Representatives.
We need your help! The Improving Access to Clinical Trials Act (IACT) will expire onOctober 5th. This important law allows those with rare diseases, like cystic fibrosis, to participate in clinical trials without fear of losing vital benefits through Supplemental Security Income and Medicaid.
The Senate has passed the Ensuring Access to Clinical Trials Act of 2015, to remove the expiration date from IACT, but we’re not done yet!The House must pass this critical billbeforeOctober 5thin order for it to become law before IACT expires.
Thanks to the support of advocates like you, we have made remarkable progress in the fight against this disease. With more research underway than ever before, it is critical that all people with CF have the ability to participate in clinical trials without fear of losing their benefits.
Thank you for all you do! Together, we will keep adding tomorrows for people with cystic fibrosis.
The documentary ‘Butterfly Girl’ (2014) tells the story of Abigail Evans, a 18 year old from Texas with a rare skin disorder, epidermolysis bullosa. Abbie spends her life having to be cautious and having to endure painful medical procedures. She works at her father’s honky tonk concerts selling concert t-shirts. She might be struggling, yet she remains strong and seeks more. Abbie makes the most out of her life, and explores her world – photographing California cliffs, eating out in a diner, having a great time at bars in Austin where her father plays – with an inspiring passion and enthusiasm. The documentary portrays the mixed emotions of desire for more as well as fears, fears also from Abbie’s parents, who want to protect her, but also let her live free.
Epidermolysis bullosa “is a very rare and painful genetic connective tissue disorder that affects 1 child out of every 20,000 live births in the United States (that means about 200 children a year are born with EB). Because their skin is so fragile, they are often known as ‘Butterfly Children.’ EB afflicts both genders and all racial and ethnic backgrounds equally. EB is actually a group of disorders that share a prominent manifestation of extremely fragile skin that blisters and tears from friction or trauma. Internal organs and bodily systems can also be seriously affected by EB. The list of secondary complications can be long and may require multiple interventions from a range of medical specialists. More severe forms of EB result in disfigurement, disability, and early death, usually before the age of 30. In fact, some forms of EB are lethal in the first few months of life. As of today, there is no cure or treatment. Daily wound care, pain management, and protective bandaging are the only options available.” Source: http://debra.org/whatiseb
You haven’t slept for what feels like an eternity, coffee cannot keep you awake anymore even after drinking the strongest espresso you can brew – you are sleep deprived.
A while ago you finally manage to fall asleep and all is peaceful; the next moment you are awake again and are unable to move. Hallucinations occur and it seems you are going nuts – funky things are happening.
“A 2011 review of studies published in Sleep Medicine Review revealed that 7.6 percent of the general population experiences sleep paralysis at least once in their lifetime. It’s even more common in students — a population not surprisingly sleep deprived — at 28.3 percent. The percentage is even higher in people with psychiatric disorders, at 31.9 percent, and particularly high in those with panic disorder: 34.6 percent.” – Liz Zabel, The Gazette.
Funky things happen because with sleep deprivation, our bodies do not enter the REM (rapid eye movement) state, the most restorative sleep cycle, vital for a good rest. And if a REM cycle is interrupted – you waking up suddenly for example – it can result in sleep paralysis. What happens is while the brain is awake and active, the body is still ‘asleep’, and you cannot therefore move. The brain then can start producing visual, auditory and in some cases physical hallucinations.
Dr. Mark Eric Dyken, a neurologist at University of Iowa’s Sleep Disorders Clinic, explains that to enter REM sleep it takes 60 to 90 minutes, if you are sleep deprived however, the body “nose dives” into it. The paralysis is “a natural process of REM that keeps you from acting out your dreams”.
According to Dr. Dyken, the disorder is linked to narcolepsy, yet one can experience it at least once in life, in particular if one is sleep deprived. This disorder is not widely known, due to the stigma associated with its symptoms.
Dr. Andrew Peterson, medical director at the Eastern Iowa Sleep Center, advises trying to get better sleep, reserving enough time for sleep – 8 hours if you are 25 and older – and keeping a routine of going to bed and waking up at the same time each day. There are antidepressants and other drugs that can help, none without side effects.
OKLAHOMA CITY — I’m pushing my two-year-old son in a shopping cart at a discount grocer when we hear the chest-rattling hacks nearby.We both turn around.
“Sick! Sick baby!” Eli says, pointing.
“Shh shh shh, it’s OK,” I say, pushing his finger down.
We walk past the toddler as a fit rages through his tiny body. His parents pat his back.
A look of disgust crosses one shopper’s face. “Why would they bring him out?” utters another. Others just stare.
I only have this thought: “Maybe that child has cystic fibrosis, like my son.” I get angry as I watch them gawk. I want to yell: “Stop staring. Stop judging. It could be a genetic disease. Genetic diseases aren’t contagious. What do you know about that child?”
Instead, I slink away, wondering when Eli will have his first experience like that, one that makes others stare in some combination of judgment and disgust. What would I do if I were there? What would I say? Would I tell them to stop staring at my child or would I move along without a word?
My son’s illness sometimes drives me to the badlands of my mind. Cystic fibrosis, which Eli was diagnosed with soon after birth, is a fatal and progressive genetic illness that obliterates lung functioning over time and often claims people in their 20s.
At the moment, he has a mop of floppy golden curls, a gap-tooth grin and a fierce love of trains. The science to cure cystic fibrosis is moving fast, but I don’t yet know if it will be fast enough for him.
This time, I manage a quick escape from negative thinking. Wondering if or when a bad thing is going to happen, I’ve learned, wastes energy. It wastes time. And I don’t know how much time Eli and I will have together.
Meanwhile, in Chile, a schoolgirl with cystic fibrosis begs to die in a “euthanasia plea” she posts on You Tube.
Valentina makes her request from a hospital bed. She’s thin and pale with big, serious eyes. She takes oxygen through tubes in her nose.
I’m Valentina Maureira. I’m 14 years old. I suffer from cystic fibrosis, she says.
I need urgently to speak to the president. I’m tired of living with this sickness and she’s the only one who can authorize euthanasia for me. I want her approval so I can get a shot that can make me sleep forever.
Some are compassionate, others outraged. Pundits weigh in. Her friends campaign for her right to die. Yet most people miss the headlines — few seem to notice or care.
As is the case with Eli, the mucus in Valentina’s body is thick and sticky. Their lungs accumulate bacteria and viruses that would otherwise cycle out of a healthy person. Even a small cold can lead to a bad infection that threatens to scar lung tissue. The way things are now, so long as they fight illness after illness, the day will come when Eli and Valentina will no longer be able to breathe.
Even though I knew this, I’d never considered a scenario in which my son would decide to stop fighting his illness. Eli will possess the ironclad desire to keep breathing, won’t he? I don’t want to bury my little boy.
I’m on the phone with Valentina’s father, Fredy Maureira, a 53-year-old who works in the laboratory of a chicken farm. Valentina’s mother, Jaqueline, stays at home. In addition to Valentina, the couple has a 23-year-old daughter, Karmine, who has a 5-year-old son, Vincente. They live in a town southeast of Santiago called Melipilla. The Pacific Ocean is a 40-minute drive west.
Melipilla is full of chicken farmers and factory workers, Fredy tells me. There has never been proper medical care for Valentina in town; the family has always traveled to Santiago. When Valentina is 5, Fredy breaks the news. He tells her that she had an older brother, Mike, who died of cystic fibrosis, the same disease that she has. Fredy describes her reaction as intelligent, aware.
Valentina, a happy child, takes the bad news in stride.
She’s got things to do.
She rides a black horse without a name through fields near her home. She grows her fawn-colored hair long, dances with friends in the living room to Daddy Yankee and cheers for the Chilean soccer team Colo-Colo. Meanwhile, her parents beat on her back, chest and sides daily to purge her of mucus.
Eli receives a similar therapy, but it’s automated. For an hour a day I strap him into a vest with two dark blue ridged tubes hooked to a bread-box-sized compressor. When I press a button it inflates and pounds him. At two, he often screams, hides or throws himself down when he sees me coming with his vest, which has an Army fatigue motif.
Doesn’t she hate that, the pounding, I ask Fredy?
“She got used to it,” he says.
Like my son, Valentina also takes enzymes to grow and keep on weight. Without the enzymes, neither would be able to process fats in their pancreas, and both would either starve or succumb to illness. The disease can mess with other organs too, though I refuse to think about this.
I learn that Valentina’s trips to the hospital are nothing like Eli’s.
“Here, there are so many kids that they are crowded in the hospital rooms,” Fredy tells me. “The waiting rooms are crowded. It’s very disorganized.”
Cystic fibrosis clinics throughout the United States adhere to a different standard of care. When I take Eli to the lung doctor, the receptionist hands me a brand new pen I keep with me throughout the visit to avoid the transfer of germs. Nurses and his doctors slip on bright yellow protective gear before they swab his throat. His antibiotics are tailored to his most recent lab results. Certain bacteria are extremely harmful to cystic fibrosis patients, and if detected must be treated with an aggressive regimen of drugs.
When Valentina is six, her father makes a trip to the United States. He applies for a visa so she can travel with him and receive better medical care. It’s denied.
When she is 10 she gets very sick, Fredy tells me. Trips to Santiago become more frequent. Her parents always sleep on the hospital floor. When healthy, she attends school but has little interest in friends her own age. She is always with her older sister.
At 13, Valentina becomes determined to live, though by this point she needs a double lung transplant to keep breathing. No organs are available, and the family can’t afford a transplant. She campaigns by handing out fliers outside of a Santiago hospital. Though the family is featured on local news reports, fundraising efforts bring in “very little,” Fredy says.
It’s getting harder and harder to breathe. Valentina can’t keep weight on. The headaches come all the time. She spends much of 2013 in the hospital.
In February 2014, after nine months in the hospital, she is ready to die.
She posts her plea to YouTube one night. Within two hours it has been viewed 25,000 times. At 7 a.m. the next morning the family starts getting calls from Israel, Japan, Britain, all over the world.
Her heartbroken parents fall apart but never question her decision. We support her “100 percent,” Fredy says. She is “smart and aware and we want to respect that.”
The media visit her in the hospital, and one reporter tells her she will be cured.
“Si,” she says. She manages a quick smile and casts her eyes downward. You sense she’s just being polite.
Valentina is excited but also scared and overwhelmed by all of the attention. The family hire bodyguards to stand outside her hospital room. She receives a visit from the Chilean president, Michelle Bachelet.
Valentina tells the president she wants to enjoy life.
There is no money. There are no organs. Valentina is too small to endure any transplant.
She has little breath to waste and she has a message. Her requests are humble; she’s not asking for medical breakthroughs or a cure, like I am.
She wants housing near hospitals throughout Chile so the parents of sick children don’t have to sleep on hospital floors. She dreams of a marathon — a big one — tied to cystic fibrosis, and she wishes for a book and a movie to be made about her life. But more than anything Valentina wants to see the formation of public clinics in Chile to help children like her, but with all kinds of rare diseases, not just cystic fibrosis.
She has always been like that, a humanitarian, her father tells me.
Valentina does not end up getting the shot to help her sleep forever.
Her breath grows weak; she strains to stay alive through quick, shallow pants. “Help,” she says. “Help. Help.” Those were her last words. On May 14 she succumbs to the same genetic illness my son carries.
What the future might hold
I wondered after Eli and I left the supermarket why people are so quick to judge, instead of looking at a sad or confusing person with understanding — or at least a desire to understand.
I am putting my son to bed now. He wears dinosaur pajamas and a goofy grin. I put on “Rainbow Connection” by Kermit the Frog, who strums along on guitar.
Each night, as I put my little boy to sleep, soulful Kermit, the everyfrog, contemplates the meaning of life with us.
I think about Valentina sometimes, her life, her dreams. Even in failing health, she was kind. Valentina never lost hope. She was only being realistic. Her lungs failed but not before she gave the world her to-do list. She never once stopped believing, stopped insisting in her quiet, determined way, that things could be better for kids like her. She gave hope, even as death drew nearer with her each passing breath.
“Someday we’ll find it, the rainbow connection, the lovers, the dreamers and me,” Kermit sings.