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Archive for Sunday, April 25, 2010

Desperately seeking diagnosis

Woman wants answers, cure to ailment

Jenny Ray McGee, a 20-year-old Lawrence High school graduate, crying, stares out of a California Pizza Kitchen restaurant window Jan. 26, the morning of a doctor’s appointment at Children’s Mercy Hospital in Kansas City, Mo. Jenny Ray, who has an undiagnosed genetic condition, was to get lab results back at the hospital, and she hoped she would finally find out what is causing the sickness in her body.

Jenny Ray McGee, a 20-year-old Lawrence High school graduate, crying, stares out of a California Pizza Kitchen restaurant window Jan. 26, the morning of a doctor’s appointment at Children’s Mercy Hospital in Kansas City, Mo. Jenny Ray, who has an undiagnosed genetic condition, was to get lab results back at the hospital, and she hoped she would finally find out what is causing the sickness in her body.

April 25, 2010

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Nobody knows what’s wrong with Jenny Ray McGee.

If you saw the 20-year-old Lawrence High School graduate on the street, you wouldn’t guess that as a baby she was deathly ill and spent her childhood stuck in a wheelchair.

“Everyone looks at you like you are normal, and you are expected to be normal,” Jenny Ray starts, but interrupts herself.

“Normal. I hate that word,” she scoffs. “But you’re not normal. You’re trying to fake it, and everyone thinks you’re normal, but then they find out you’re not normal, and then they don’t treat you the same.”

There is something wrong. But whatever causes the numbness in her hands and feet, frequent falls and lack of balance, the inability to run, the frequent exhaustion and abnormal gait doesn’t have a name.

She knows what she doesn’t have. She lists the complicated names of her past diagnoses like a tired, frustrated mother reeling off the names of naughty children: ataxia, porphyria, chronic immune mediated poly demyelinating disease, congenital myasthenia gravis.

Congenital myasthenia gravis made sense. This rare form of muscular dystrophy could have caused her weak and improperly functioning muscles. CIPD made sense. This could have caused the numbness in her extremities. Ataxia made sense. This could have caused her lack of balance. And porphyria made sense. This rare blood disease could also have caused her muscle pain, numbness and weakness.

Meet Jenny Ray

Jenny Ray McGee, a 2007 Lawrence High graduate, has been in and out of hospitals her entire life, the victim of a genetic condition, currently undiagnosed. Jon Goering video Enlarge video

But none of these names was right.

Some might refer to these names as misdiagnoses, but they are really more like dead-end roads for Jenny Ray. Roads that looked for a while like they might lead her to freedom from sickness. But each time the treatments and medications stopped working, and the joyous skipping down the road to recovery became a difficult hike down a trail of tears as Jenny Ray struggled to come to terms, again, with the fact that she is sick.

Three years of skipping

In 2005, the name given to her road to recovery was dopa-responsive dystonia, a diagnosis by her doctor at Children’s Mercy Hospital, Dr. William Graf, chief of neurology. Graf says he disagreed with the previous diagnoses because a milder form of the disorder also affects Jenny Ray’s biological mother.

“This should illustrate the importance of an accurate diagnosis versus an initial hypothesis,” he says.

The DRD medication worked amazingly well, and a profile story on Jenny Ray that ran on the Children’s Mercy website carried a headline proclaiming “Diagnosis of Dopa-Responsive Dystonia Ends 16 Years of Health Challenges.”

For three years Jenny Ray was skipping. But then she started stumbling, and then falling. The medication had stopped working. Jenny Ray says she bounced around various doctors and hospitals, including Lawrence Memorial Hospital, in search of doctors who would just renew her prescriptions for the DRD medication and not request more tests, even though she herself had begun to doubt that DRD was the correct diagnosis.

Jenny Ray says she knows it sounds dorky, but during some research on DRD, she found some online videos of kids who had been correctly diagnosed with DRD and miraculously healed.

“They were in a wheelchair, now they’re doing back flips,” she said. “I was in a wheelchair. But me? Not so much on the back flips.”

So Jenny Ray’s aunt persuaded Graf to see her again. She says he, too, had begun to doubt that DRD was what she really had. And since DRD is an illness that is diagnosed by observing how the patient responds to the medications, there is no definitive test that could prove this is what she had. So the best diagnosis that Jenny Ray gets, for now, is that she is the victim of an undiagnosable genetic condition.

“Undiagnosable? Maybe,” Graf says. “Or ‘yet-to-be diagnosed.’ We could probably label her condition as CMT (a complex group of hereditary sensory motor neuropathy disorders) and just leave it at that, but I think Jenny and her birth mom are more complicated. And we cannot begin to discuss targeted therapy for the condition until we understand it biologically.”

Will to live

Jenny Ray was never supposed to live. Debbie McGee, who adopted Jenny Ray as a baby, had to stay up almost around the clock for days and nights on end taking care of her.

“This is not the type of kid you put to sleep and take care of in the morning,” Debbie says, adding that Jenny Ray “absolutely” would have died during the night without the constant care. “But I am not a hero. I have never personally met a parent that wouldn’t have done for their child.”

Debbie says that even though the doctors weren’t able to diagnose Jenny Ray, they were able to take amazing care of her and help keep her alive. She adds that support from family, friends, doctors and nurses is why Jenny Ray is still alive today. Plus, Jenny Ray, even as an infant, had an amazing will to live.

“I was told that other babies would have just rolled over and died. But Jenny Ray would not,” Debbie said.

The assistance from hospitals, nurses, friends and family went beyond emotional and medical support. Debbie says it was only through this support system that she and her husband were able to struggle through paying for Jenny Ray’s care.

“Insurance companies are after one thing,” Debbie says. “And that’s profit. Plain and simple.”

Debbie says that the insurance companies never wanted to help, and that they would always delay paying for Jenny Ray’s care as long as possible. “I couldn’t talk to the insurance companies. I would just get so furious. And I needed every ounce of energy to take care of Jenny.”

But, Debbie says, they always managed somehow to get by. The family worked overtime, never took vacations and always put Jenny Ray’s needs first. She says Children’s Mercy would get as much as possible out of the insurance companies, and then ask the family once a year to pay whatever they could toward Jenny Ray’s bill. The rest would be taken care of by the hospital.

Sometimes it was friends and family stepping in to help. Or the family’s church at the time, Baldwin Gospel Chapel. Or the Visiting Nurses Association of Douglas County.

“We somehow, always, managed to get by,” Debbie says.

The wild years

Jenny Ray’s struggle for survival, though easier now, is far from over. “It’s the suffering that makes me sad,” Debbie says. “Every day is a day of suffering for Jenny Ray. There are no days without suffering.”

Even though her illness still has no name, Jenny Ray’s overall health has improved greatly compared with when she was younger. Though she tires easily, she rarely falls over anymore when she walks. She doesn’t have to spend long stays in hospitals receiving infusions or getting tested. And she says she is never going to use a wheelchair again.

Three years ago, when Jenny Ray seemed to be on the path to almost full recovery, she started what she calls the “wild years.” For the first time in her life, Jenny Ray was in control of her body, and she wanted to take full advantage of it.

“I was gonna do what I wanted to do,” she says. “I just didn’t care after 17 years of having your own body as your own prison: not being able to tie your shoes, brush your teeth, comb your hair, stand without assistance. I had so many feelings, and I didn’t know what to do with them, so I just drank them away.”

Freed from her prison, Jenny partied, drank and got in trouble “a lot,” and a rift developed between her and her mom.

“What am I doing with myself after they kept me here?” Jenny Ray says she finally asked herself one day. “So many people fought for me. They don’t have a label for it, but I am still here, I’m still walking and I’m still breathing. And I’m a lot better than a lot of other kids. A lot of people would look at me and be like, ‘What are you complaining for? Do you know what we would give to have been in a wheelchair and then be able to walk, and still be getting better?’”

More waiting

Inside of a large blue corner house in Lee’s Summit, Mo., in late January, Debbie and Jenny Ray tease each other like teenage sisters. Jenny Ray moved from Lawrence to Lee’s Summit last year in order to work and go to school while waiting to enroll at the University of Missouri, so Debbie has to drive from Lawrence to pick her up. Debbie is taking her daughter to Children’s Mercy for her appointment, where Jenny Ray will be getting back the results of a new series of tests.

In the car, Debbie puts on a CD. Over a slow, acoustic intro, Debbie explains the song. Six years ago, when Jenny Ray was 14, she had a really hard winter — winter was always the hardest season. Every night Debbie sat with Jenny on her lap in the same recliner rocking her to sleep to the song. “It didn’t make dying OK,” Debbie says. “But it seemed to make the emotions OK.”

On the morning of her appointment, Jenny Ray says she is skeptical that she will ever be fully cured. “That word is —” Jenny Ray says, but stops and sighs. “I don’t think that word applies to me anymore.”

She says she is happy with the amount of strength that she does have, and that she is grateful for the amount of time and energy everyone — family, friends, nurses and doctors — has spent trying to make her better.

In the hospital room of Children’s Mercy’s neurology department, though, her frustration is obvious. Tears roll down her cheeks as Dr. Graf explains that the technology for identifying previously unidentifiable genetic conditions is improving rapidly. During this latest round of testing, 20 percent of people with previously undiagnosable genetic conditions received a diagnosis, for the first time in their lives.

Not Jenny. All her tests came back normal, so all she can do is wait. Wait for computer technology to advance, Graf says. His best guess is a couple of years. A couple more years of waiting. At that point another 20 percent or so of people tested will likely get diagnosed.

“Because of expense, we are testing Jenny for individual genes step-by-step,” Graf says. “Her gene test for the GJB1 gene is pending now. In the future, this could be performed more effectively and efficiently by whole genome sequencing.”

Never giving up

Graf believes Jenny Ray’s story is a story about fortitude, and “not giving up the chase and not being satisfied with a poorly, or incorrectly, defined diagnostic label. I am sorry that we cannot fix her disorder. But I see my job as finding the right diagnosis through the right approach, in addition to supporting her.”

As soon as Graf leaves the room, Debbie walks over to comfort her daughter. Jenny Ray sobs as Debbie rubs her back. Jenny Ray finds some comfort in having grown up in hospitals seeing children much sicker than she, who “would give anything to trade spots with her.”

But this comfort is short-lived because Jenny Ray is tired. Tired of waiting. Tired of falling. Tired of starting over.

A few days later, Jenny Ray’s frustration and anger haven’t receded much.

“I know (Dr. Graf) has my best interest at heart, and I know that, in the end, he will probably cure me,” she says. “But I do not want to just be a sitting duck for two years.”

She continues by imagining a conversation with her doctor. “What are you going to do,” she asks “if next week I get a cold? And I’m not going back in that wheelchair. I will lay in your office for three weeks straight until you give me something else. I’m not ever going back in a wheelchair again.”

Comments

JennyRay McGee 4 years, 7 months ago

EdJayhawk. I understand that you feel I probably should seek out a professional to tell me that I am sad, but doesn't that seem kind of pointless? I know when I am sad, the tears kinda give it away. But this is a sad situation so I feel that it is more than okay that I wake up some days and cry the whole day. At one point in my life I think I should have been taking pills for depression, but I refused. I have taken so many pills in my life I don't feel like adding any more till it is one that cures me. I think it is good to be sad sometimes and I have a very strong head on my shoulders now that allows me to pull myself out of funks. Thanks for reading my story :)

hip_gma 4 years, 7 months ago

I'm certainly not one to preach, and don't mean to now, but pray and have faith. When my family was going through serious health issues, telling myself "God doesn't give you more than you can handle" brought comfort and I hope it will for you and your family. God bless you all!

1234 4 years, 7 months ago

I went to school with Jenny shes a nice girl.... Jenny- I feel for you... recently I have had dizzyness issues that the doctors can not figure out whats wrong.... It really hinders your daily activity. I can only imagine what you are going through. Just realize that God has a divine plan for all of us. Whatever that plan may be as long as you trust Him and keep him in your heart then you will find a little peace in knowing things will turn out ok.
Jenny- Keep your head up and I pray that God will work though your doctors and find out what the issue is and turn over a new chapter in your life :)

greenworld 4 years, 7 months ago

Jenny- Your strength to move on with your condition is unbelievable. I highly salute your effect to want to live a normal life and know that it must be frustrating everyday to not know what is wrong with you. My nephew several years ago had seizures and they ran test after test and narrowed it down to a portion of his brain was not working correctly. As he got older they thought they might be able to do surgery to correct it and later found out that the seizures were coming from a part of his brain that they couldnt operate. So once that news broke he became more trapped into a life of H!!! His parents had to drive him everywhere and he enrolled at KU to later drop out. He also had to stay enrolled to stay on his parents medical plan to get his meds paid for a a low cost. Once he dropped out his meds went back up to full price that become unaffordable. On Jan 6th 2004 my nephew's fight was over as he made the decision to end his own life. He dumped his pain off on everybody else and now everybody else took his pain and have to search for answers. Thanks for not taking the eazy way out and living on to accept God's plan and know that one day you will be healed. Also just remember everyday is a new day and another day of salvation that leads you closer to his Kingdom. Lastly I was once told by somebody and I never have forgot this, there is always somebody worse off than you and I have never forgotten that. God Bless you and keep looking forward dont ever look back.

promitida 4 years, 7 months ago

Like many people, I too went to school with Jenny. I had no idea she was so sick. I'm very moved by her motivation to continue to achieve what her healthy peers take for granted. This was a wonderful story about her, bravo Mr. Goering. A stand out article in this paper.

kansasrose 4 years, 7 months ago

Jenny: you are an amazing young woman. I have also struggled with serious health problems for several years but at least I had a name for my problems and doctors that would help. With Dr. Graf, I suspect that you will someday find a name and a treatment for your condition. I hope you are getting the emotional support you need. Peace to you!

Mari Aubuchon 4 years, 7 months ago

Jenny, I hope that you are able to find help and healing. You are a strong young woman and I have no doubt that your determination will, one way or another, help others.

To the person who recommended a mental health evaluation: Jenny has been dealing with health issues since infancy. I agree that this, in and of itself, can be dispiriting and disheartening but depression is not the root cause of her problems.

I would like to see spirituality be a help rather than a hindrance. I, personally, find the view that "God does not give you more than you can handle" and "There's always someone who has it worse" to be extremely problematic for those who are suffering. Instead of offering comfort, such ideas can induce guilt and shame and be heard as "put up and shut up". In truth, emotional and physical suffering can be more than someone can handle and they need to feel that they can reach out for help before they turn to destructive ways of coping. Also, I have to say that when you are truly suffering, knowing that others suffer more is hardly a comfort.

Hope, whether from a spirit that dreams, religious faith and/or the love and support of others, can only grow from truth. Being able to express one's pain without fear of judgment is essential to healing.

Sean Livingstone 4 years, 7 months ago

Probably she needs to look beyond the border of this country to look for a cure. The sad thing is that medical research in the U.S. is driven by profits so it tends to give ailments and illnesses that very few suffered from very little attention. But situations may be slightly different in other countries. You'll be surprised that you might get find a cure in some unpredicted countries.... I suffered from a syndrome for many years, and no doctors can ever find a solution for my problem! One day, I went for archipuncture, and he found out what my problem is! Then I went back to my doctors and told them... and viola... it's cured now. Go and visit some non-traditional doctors.... many of these illnesses are very common overseas.

Let me know if you need more information.

christy kennedy 4 years, 7 months ago

Jenny,

It sounds like you've been tested for everything under the sun but does that include checking for the antibodies created by gluten intolerance? I don't know what all your symptoms are but peripheral neuropathy, balance and muscle issues, and fatigue are a few of a large group of atypical symptoms of gluten sensitivity. Many doctors still think it's a rare condition but it's not. The symptoms are very wide ranging and doctors often require specific gut symptoms and a positive gut biopsy before even considering it, but in fact people can have just skin symptoms, or just neurological symptoms . . . it's a long, long list.

booklover 4 years, 7 months ago

HI Jenny! I was just thinking about you and some of my other old library teens a couple of days ago! You girls were some of my favorites! I'm glad to hear you are still hanging in there! You stay strong and since you're in Lee's Summit, if you find yourself in downtown KCMO, stop by the library and say hi, that's where I'm at now. Love you much and I'm keeping you in my prayers!

Karen Dawber 4 years, 7 months ago

When I say this article, I wondered if this adoptee's biological parents' medical history is available to her? This may help in finding any genetic links. I hope she will find her medical history and first parents too.

Deja Coffin 4 years, 7 months ago

I can't even imagine. She is much stronger then I think I could be. My prayers go out to her, I just hope they can give her some answers.

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