Dying to live (A young woman with a rare disease pushes to find a cure) – Rio Rancho Observer

A thin-green, extra-long oxygen tube bends and swirls across the tile floor of a kitchen in one nondescript Rio Rancho home.

On one end of the tube is a giant collection of heavy oxygen tanks lined up by the front door. On the other end gasping for her next breath is 25-year-old Anna Wenger.

Wenger has Systemic Diffuse Scleroderma, a rare disease that affects the skin, organs and immune system.

Its an auto-immune illness and theres two different kinds, Wenger said expertly. One is the diffuse and theres the limited; the diffuse is the worst kind because it hits your organs and limited just means its on the outside.

According to Wenger, this disease causes the body to produces too much collagen, which tightens the skin on the outside of many external body parts. Diffuse means the disease tightens the organs causing many internal health problems.

My lungs and all of my arteries are hardening, Wenger said. For a while, I was only experiencing the external symptoms, but when I turned 22 it started hurting me internally.

Wenger said this disease affects around 300,000 people nationwide and, of those diagnosed, many only have the external or limited symptoms.

Before Wengers diagnosis, she says she was an active child who enjoyed swimming, cheerleading, and playing soccer.

We would go to the lake every weekend and I had just started roller-blading, Wenger said. All of a sudden I lost a dramatic amount of weight, and started slowing down. I didnt notice it but those around me noticed it and thats when I went to the doctor.

Doctors diagnosed Wenger with Systemic Diffuse Scleroderma at 12 years of age, and told her mother she wouldnt live past 20. But Wenger said she didnt feel much different until a year later, when she noticed ulcers forming on her elbows.

Because of the rapid movement of the disease I lost some of my fingers and toes, Wenger said. The doctors gave me prednisone and methotrexate, which just wasnt helping.

Going to school became almost impossible at this point in her life, she said. After dropping out of school and trying to take her medication, Wenger noticed she was rapidly getting worse.

After 10 years of external symptoms only, it started hitting my organs really bad, Wenger said.

She was living on her own in Arizona dealing with her symptoms, she said, when everything changed.

I was happy I had outlived the date doctors said I would die, when I became so ill I had to move to New Mexico to receive help from my mom, Wenger said.

One day, after moving in with her mother, Wenger said she felt really cold and could not breathe very well.

We went to the hospital and they put me on oxygen, then I got really hungry and ate some (fast food) and went into heart failure, Wenger said. Then I had to be incubated and woke up five days later on life support and 33 liters of oxygen.

Every day has been different for Wenger since that fateful incident, she said. Now Wenger has to prepare a specific low sodium diet from scratch on a regular basis that does not interfere with her symptoms. Wenger also has to be hooked up to oxygen everywhere she goes to compensate for her lung functions due to the reaction of her disease.

Although many people would be devastated by this sudden lifestyle change, Wenger stays optimistic, because she says she knows of a possible cure.

With a stem cell transplant, doctors take out your stem cells, and then they harvest them to get them healthier, Wenger said. Then you go through five days of intense chemotherapy and then they put the cells back into your body to re-start your immune system.

The cost of the procedure that may cure Wenger is $150,000, plus an additional $25,000 for the evaluations from a specialist, she said.

Thats not even including lodging and food and everything else, Wenger said.

This procedure, which is still in trial, is not covered by Medicare, she said. Add in the fact that Wenger has heart issues puts her at-risk for many of the clinics providing stem cell replacement.

Stretching resources is a daily battle for Wenger, who lives on $700 a month, she said.

If I hadnt moved in with my mom, there is no way I would make it through, Wenger said.

Theresa Johnson, Wengers mother and main caregiver, said she fell to the ground after hearing her daughters initial diagnosis.

I really had a hard time getting my head around it, Johnson said. At that time, when she was 12, she was barely walking because the symptoms got so bad.

Johnson said her daughter was a natural competitor that excelled in sports and loved dancing.

When this disease hit her body, it hit her skin very rapidly and she tightened up and could not move. Johnson said. For a long time the disease stopped at her skin and did not go into her organs, so we were hopeful.

Now, with full understanding of the seriousness of her daughters disease, Johnson said she is looking for ways to help find a cure.

Sacrifice is the main thing, Johnson said. I dont want anything for myself everything is for her and my son. I will do anything to see her get better. If I have to lose my home I will lose it whatever.

Although Wenger is limited on her mobility, she said she likes to stay busy and active working on many projects.

I like a lot of different things. I like to put together furniture, I love painting and thats pretty cool that I can still do it even though half my right hand is missing, she said, laughing at that.

Wenger has also put together a Scleroderma support group that meets the second Saturday of every month at Sabana Grande Recreation Center, just down the street from her home.

I had 15 people meet up at my last support group, Wenger said. I am the main person who does this, but the people help me put up the chairs.

Family members and people dealing with Scleroderma are in attendance, she said.

I love doing this; it makes me feel good and all of the members are so sweet to me, Wenger said.

Wenger kept her diagnosis a secret for a long time because she was afraid people would treat her differently, she said.

I just wanted to be a normal teenager, Wenger said. Now that I look back, I shouldve raised awareness of my disease to help others with the same symptoms out, thats what I am doing now.

Wenger said she feels blessed to still be able to do things because she knows of so many with the disease that cant.

I can still make my own food, change my clothes, take a shower and do daily tasks, Wenger said. I still count my blessings.

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Dying to live (A young woman with a rare disease pushes to find a cure) - Rio Rancho Observer

Luciano: When nursing home says hit the road, what if you can’t walk? – Peoria Journal Star

Phil Luciano Journal Star columnist @lucianophil

WASHINGTON Like many 16-year-olds, Jason Hermacinski insists he knows whats best for himself.

From his long-term-care room at Washington Christian Village, he demands, I want to go home. I dont see any reason why I cant.

But Jason isnt 16. He just thinks that way. He is actually 37 yet will always have the mind of a teen.

Thats because of adrenoleukodystrophy, or ALD, a brutal genetic disease that also has killed all sensation below his waist.

Doctors say he needs specialized care 24-7. He gets the care he needs at Washington Christian Village. But the center is trying to give him the boot, in what it calls an effort to help Jason.

His parents and doctors oppose the move. If they lose the fight, his parents fear what will become of Jason.

Hes lost everything in his life, his mom says.

***

Clark and Linda Smith sweat through their golden years.

The widower and widow wed 23 years ago. He's had surgery for lung cancer. She's had two pacemakers. In 2013, their Washington home was obliterated by a tornado.

But no challenge has been as hard as their fight regarding ALD. He is 80, she soon will turn 70.

I dont know how much more time we have to fight for Jason, Clark Smith says.

The struggles of ALD caught Hollywood's eye with 1992's Lorenzos Oil, which spotlighted two real-life parents seeking help for their afflicted son. According to the not-for-profit Stop ALD Foundation, the disease affects one in 18,000 people. It destroys myelin, the protective sheath around the brain's neurons, which allow people to think and to control muscles.

ALD is caused by a genetic abnormality in the X chromosome: its carried only by females. ALD symptoms in females are rare and mild. But in men, severe physical and brain deterioration can result, starting in childhood or beyond.

There are two treatments. Lorenzos oil combines fats from olive and rapeseed oils. In boys, it shows indications of staving off the onset of symptoms.

After a patient becomes symptomatic, the other treatment is a stem-cell transplant. Doctors believe the new cells share a missing ALD protein in the brain and halt brain damage.

ALD and other maladies haunt Jasons family, beyond his mom and stepdad. When Jason was 12, cancer took his dad. Just before that, Jason was tested for ALD, as his two brothers (older by nine and 12 years) had shown its traits. Each brother is married with a family. One still works; the other is disabled.

Jason seems to have gotten it the worst," his stepfather says.

For more than 20 years, Jason has been under the care of local doctors, plus ALD experts in Minnesota. Years back, a regimen of Lorenzo's oil possibly slowed his ALD. At age 24, Jason became a father, as well as sole caregiver for the boy, his parents say. Around that time, he began experiencing symptoms of ALD, including lesions on lower extremities. He gradually lost mobility in his legs, along with the ability to hold a job.

For years, he and his son lived in a trailer in East Peoria. But ALD started to degrade Jason's brain, and last year his Minnesota ALD experts advised a bone-marrow implant. The surgery was a success in ceasing further brain erosion.

But recovery was difficult, hampered by severe lesion infection. After rehab in Minnesota, he continued recovery at the home of his parents. But soon they realized they could not offer proper care. If he tumbles over, they have a hard time lifting him. With no sensation below the waist, he is unable to control his bladder or bowels, meaning he needs frequent cleaning. Meanwhile, lesions and infections are relentless and serious, with some near his spine, so he needs repeated wound care every day. Plus, he takes 25 medicines a day.

Last summer, that swirl of complications meant 10 trips to emergency rooms.

That summer was a nightmare, Clark Smith says.

***

If infection is kept in check, Jason could live a normal lifespan. But, doctors say, he always will need to be in long-term care, especially for wound care. The state has told Jason and his parents that his needs exceed the parameters of the cost and expectations of in-home aides, which his parents can't afford to cover themselves. Thus, he almost certainly will spend the rest of his life in a care facility.

He doesn't like that notion, regardless of medical logic. ALD has reduced his brain his thinking, his attitude to the mindset of a 16 year old, forever. Mood swings are teen-like: amiable one moment, vindictive the next.

He thinks he knows everything, his mom says. Everyone is wrong. The doctors dont know anything. Were ruining his life. Yada, yada, yada.

With legal guardianship over Jason, his parents in October took him to live at Washington Christian Village, walking distance from their home. They visit daily and often take him offsite for medical and social visits. Meanwhile, Jason's son (who has been staying with a family friend) visits regularly, as do Jasons pals. They sometimes bring by Jasons beloved dog, Wolfie, a 13-year-old Lab mutt.

Otherwise, Jason spends most of his time in his room, watching TV and texting friends just like many teens. Still, he is adamant about getting back home to the old trailer and his son.

During a visit by me, he didnt complain much about Washington Christian Village.

Its OK, he said with shrug. Theres a lot of old people. He admits to having trouble relating to seniors, joking sarcastically, I dont remember anything about World War II.

But to his parents, he always has protested living there. Sometimes he lashes out at his mom, blaming her for his predicament. But he doesnt berate other residents or otherwise cause problems.

Meanwhile, he has learned how to cause a ruckus with staff.

Weeks ago, hospital staffers talked to him about long-term needs, saying he would need lifelong, long-term care. He impulsively blurted, Id rather die. That prompted a notification to the administration, plus a ride to the emergency room.

Doctors quickly deemed him not a threat and sent him back to Washington Christian Village. But, a quick learner, Jason on two other occasions mentioned suicide, as a way to vent his frustration and provoke staff.

His stepfather says, He doesn't know how to express himself (appropriately). But hes learned that saying suicide gets attention.

It also got him an involuntary discharge. State and federal laws allow nursing-home discharges only for a handful of reasons, one of which was cited by Washington Christian Village: Your welfare and needs cannot be met by this facility. To his parents, staff said he needs mental-health counseling regarding possible suicide.

His parents replied to the administration by saying counseling cant repair Jasons brain: ALD has caused permanent damage, akin to dementia. Further, they have provided him off-site counseling, about every two weeks.

Moreover, letters from Jasons ALD experts say Jason isnt serious about suicide. Dr. Gerald Raymond, a renowned authority on ALD, as well as Jasons primary neurologist for more than 20 years, states, He is known to be brain-injured and impulsive and often makes irrational statements. But he has not been judged to be an active risk for suicide by multiple providers. These statements that he will self-harm do not justify the abandonment of care by the facility.

***

Right after issuing the discharge, Washington Christian Village assisted his parents in contacting more than three-dozen facilities within 35 miles of Washington. A few didnt respond. But the rest said they were full, had a long wait list or didnt meet Jasons needs.

Of possible note, the destitute Jason depends on Medicaid. The state has a massive backlog of Medicaid payments, some 18 months long, which can be tough on a providers bottom line. No law forces a facility to accept a patient.

Washington Christian Village found one welcoming place for Jason: Roseville Rehabilitation & Health Care. His parents toured the place and found it nice. However, Roseville does not have severe-wound care. And its lone psychiatrist visits just once every three months.

Plus, its 75 miles away. Jason essentially would be on his own, with rare visitors. And his Peoria medical providers would be too far away.

All that considered, his parents cant understand why Washington Christian Village would suggest Roseville. Nor can his ALD experts, including Dr. Raymond, who wrote about Jason: His care should be provided in a skilled nursing facility that is located close enough to his guardian but also allow access for his son and other family members to visit.

The discharge threatens to drop off Jason at his parents home. But the discharge is now in abeyance, as his parents have filed an appeal. Arguments by an attorney for Washington Christian Village and an attorney hired by Jasons parents will be offered March 2 before a hearing officer with the Illinois Department of Public Health, which oversees nursing homes. Days or weeks later, the officer will forward a recommendation to the agency director, who will issue a formal ruling.

Clark and Linda Smith have spoken and written to the facilitys corporate owner, Christian Horizons, which operates nursing homes in four states. Jake Bell, CEO for Christian Horizons, declined to comment for this story, citing patient confidentiality.

Beyond the appeal ruling, Jasons parents realize he likely will outlive them. Who will become his guardian? Who will look after his best interests?

Clark Smith sighs with the weight of all of his 80 years. Then says, We dont know. Were just trying to get past this emergency."

PHIL LUCIANO is a Journal Star columnist. He can be reached at pluciano@pjstar.com, facebook.com/philluciano and (309) 686-3155. Follow him on Twitter.com/LucianoPhil.

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Luciano: When nursing home says hit the road, what if you can't walk? - Peoria Journal Star