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Rare Diseases Step Out of the Shadows and Find Support

Area residents share their experiences with little known diseases as a national organization prepares to mark Rare Disease Day this month.

Jennifer Dhuse is walking on eggshells.

The local mom doesn’t know when, but soon her 4-year-old daughter, Sophia, will begin vomiting uncontrollably.  Afterwards Sophia will go into a conscious coma, forcing the whole house into darkness and silence until she can fall asleep and quell her unbearable stomach aches.

Sophia is one of the less than 200,000 people estimated to have Cyclic Vomiting Syndrome (CVS).  CVS is characterized by episodes of vomiting lasting anywhere from minutes to days, which cannot be explained.  Often patients will experience extreme abdominal pain, and lose control over their bodies, resulting in what Jennifer describes as a “conscious coma” in which the affected does not talk or move.  There is no known cause for the condition, although many have a family history of migraines.

“It’s not life-threatening, but it is miserable,” says Dhuse of Yorkville.

Sophia was diagnosed with CVS a year ago, after a year of being misdiagnosed as having a bad case of stomach flu. 

“We were lucky to have found out when we did,” says Dhuse.  “Some people wait years before they know.  Some doctors will tell you it’s all in your head.  People still try to simplify and ask ‘Are you sure? Maybe it’s just this, or that.”

Since being diagnosed the Dhuses have changed their routine dramatically. Sophia takes Zofran, an anti-nausea medication. The episodes, which usually occur every six to eight weeks, are triggered by stress and excitement.

“Being a typical 4-year-old can trigger it.  We have to have a consistent bed time and I sleep with her, my husband and I don’t go out like we used to, Sophia can’t really have sleepovers anymore, we have to limit what she does,” says Dhuse.  “It makes me sad to think that the way we were living before was making her sick.”

Often the episodes transition to migraines in adolescence.  It has been 13 weeks since Sophia’s last episode.

“It’s great to hope for no more episodes, but we know better,” says Dhuse

Children with CVS often miss upward of 20 days of school a year and can experience high anxiety.

“She already has anxiety about being different,” says Dhuse. “Sophia has CVS, but she is not CVS.  We know she is capable of doing anything she wants.”

RARE DISEASES

Rare diseases affect more than 30 million Americans.  A disease is considered rare if it affects less than 200,000 people.

Mary Dunkle, with the National Organization of Rare Disorders, says many people feel isolated by their condition. 

“Although an individual disease may be rare, altogether it amounts to a lot,” said Dunkle.  “We want to help people affected by rare disease come together in solidarity.”

The Dhuses were lucky to find a support group based in Wisconsin, and even took part in a walk to support CVS research in June, and will take part in another this June. 

NORD works to improve patients’ lives through education, connection and ultimately, funding treatment.

On Feb. 29, NORD will celebrate the fifth annual Rare Disease Day.  According torarediseaseday.org, hundreds of patient organizations and 40 countries will come together to host awareness raising activities in support of the theme “rare but strong together.” 

LIFE AFTER DIAGNOSIS 

Katie Gryder, 26, is trying to navigate her new life after being diagnosed with Idiopathic Intracranial Hypertension (IH) in November 2011. 

IH causes the brain to hold cerebral spinal fluid, putting pressure on the optic nerve, and if left untreated, will ultimately lead to blindness. One out of 100,000 suffers from IH. Causes include certain acne medications, steroids, and obesity, none of which explained Gryder’s diagnosis.

Gryder’s symptoms started with shoulder pain that persisted for weeks.  Driving home from lunch on a Saturday afternoon, Gryder suddenly had double vision.  While she and her husband had some concerns about a stroke, Gryder had suffered from optic migraines before.

However, a few days later Gryder, who works in Oswego as a teacher's aide, couldn’t take the discomfort and went to the emergency room.  There, she met with a neurologist.  Doctors performed a spinal tap and checked Gryder’s cranial pressure.

A normal person’s cranial pressure lies somewhere between 16 and 18, Gryder’s was above 60.

She was diagnosed with IH that day and prescribed acetazolamide, an anti glaucoma medication.

“I thought OK, this is it I take my medication and it’s OK,” said Gryder. 

However, after being home for less than 48 hours, Gryder returned to the hospital with a splitting headache and received a second spinal tap.  Her cranial pressure was back up to 40. 

“I thought ‘oh my god, this is not going to get better,'" Gryder said.  “My condition isn’t life-threatening, but it is life-changing.  I’m learning what my new normal is.”

Upon returning home from the hospital, Gryder made a list of things she could and couldn’t do with IH.  Initially the only activity that made her “can do” list was “cry in the kitchen.”  That list has since grown exponentially, dwarfing the “cannot do” list. Gryder even created a blog to document her new life.

While she tries not to let IH stop her (Gryder baked and decorated eight dozen cookies the day she returned home from the hospital), because of the lack of research being conducted and information available, she has decided to wait to have children.

“I don’t want to have my child look up to me and say ‘Mommy, I can’t see,” she says. “There are just certain things I can’t do.”

FINDING SUPPORT

Like Gryder and Sophia, Diane Lange, 47, was lucky to be diagnosed within six months of noticing symptoms of her condition.

“Some people are in wheelchairs before they get a diagnosis,” Lange, of Yorkville, says.

Lange suffers from Dermatomyositis, an auto-immune disease affecting only 5.5 out of 1 million people, which causes the body to attack its own skin and muscle cells, resulting in muscle inflammation and weakness.

Dermatomyositis has no known cure or cause, which also troubles Lange.

“It’s kind of scary.  I had to get things done because you just don’t know,” she says. 

One of the things Lange did, was take her husband and two sons on a cruise, something she had wanted for a long time, but never taken time out her busy schedule to do.

Lange struggles with fatigue daily, taking steroids and undergoing chemo to keep her disease at bay.

“It’s hard because it doesn’t look like anything’s wrong so people don’t really understand.  Picking up a gallon of milk can feel like a 50 pound bag of sand,’ says Lange.  “Finding support can be frustrating, too.”

So where does someone with a rare disease go for support?  Unlike breast cancer or Alzheimer’s, rare diseases do not boast large support networks.

According to Dhuse, Gryder and Lange, the internet has been a tremendous help.

“Most of the support I’ve found has been online,” says Lange.  “You have to keep searching.”

The NORD website contains links to a number of online patient communities and resources for those with rare diseases. 

Mary Dunkle encourages everyone to pay attention to rare diseases.

“People hear ‘rare’ and they think they don’t have to worry about it, but everyone knows someone with a rare disease,” she says.

Gryder also tries to keep her friends and family educated about IH.

“I think about suffering through double vision for months, and it makes me sick,” she says.  “I tell everyone I can about IH. It’s almost a joke, if someone complains about a head ache on Facebook I automatically ask if they have visual symptoms. If I can tell people what to look for, maybe I can stop someone else from suffering.”

BE AN ADVOCATE

“You have to be an advocate for yourself,” says Gryder.  “If you think you have something and your doctor isn’t being an advocate for you, find one that will be.”

Lange agrees: “When you think something is wrong keep looking,” she says.

Without being advocates for their daughter, the Dhuses may never have discovered the true reasons for Sophia’s chronic vomiting.

“You have to trust yourself,” says Dhuse. “No doctor should be offended if you want a second opinion.”

For more information on how you can help raise awareness and get involved with rare disease day visit www.rarediseaseday.org or the NORD website at www.rarediseases.org.  

tracey b February 23, 2013 at 12:24 PM
milk thistle & greens for the liver, bone broth & probiotics to heal leaky gut, lion's mane mushroom to build brain nerves i would NEVER have her eat any processed foods with any preservatives etc everything from basic food

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