Family battling Children’s Hospital to bring teen home for Christmas #2

[Linda7NJ]

So it wasn't the flu?
- odd movements of her right leg which caused her foot to pronate.
- abnormal movements began to affect the left leg and now the rest of the body is affected.
- increased weakness which cause (sic) her to not be able to walk.
- significant leg pain
- headaches are becoming worse with light and sound
- was speaking gibberish
- experiencing an altered mental status
- not eating
- abnormalities swallowing
- Her mother reports that it was difficult to complete this admission as Justina was not felt to have a known identifiable diagnosis.
- Her other physicians were consulted and it was recommended that she be admitted here at Boston Chidlren's Hospital.

That last two are very interesting.

So we add all this to
- her previous doctors were not consulted
- misinformation on the ER Doctor
- accusations of torture
- teeth were chipped by force feeding her
- comparing the medical staff to Nazis
- her legs being blue
- her being admitted into the psychiatric ward from the ER

What am I forgetting or missing?

Also this goes to the people who keep insisting that she's in worse condition now than she was when she was admitted.

That she was near death.

Sepsis

Harassed by staff while naked in the shower...parents called media before the police, police investigated. Unfounded & false allegations.

Hair falling out

Gums receding.


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[Donjeta]

The next morning, Lou arrived at the hospital, still enraged. After conferring with his wife, he strode over to the ninth-floor neurology nurses’ station and introduced himself as Justina’s father.

Now, as Lou scanned the neurology floor, he noticed that hospital security guards were blocking every exit, focusing their eyes on him.

he was told Flores was not on call, and later that he wasn’t coming in. Instead, a young neurologist, Dr. Jurriaan Peters, took the lead in Justina’s care. Peters tried to draw out Justina by making the shy teenager guess where he was from, based on his accent. It was a good ice-breaker, and Justina smiled, though she declined to hazard a guess.

As tensions with Justina’s parents were rising, Newton reached out to Korson at Tufts, though not for his views on Justina’s medical care. Her call was primarily to tell Korson that Children’s had begun investigating the Pelletiers for possible medical child abuse. The only other contact with Korson had come Monday, when a Children’s neurology resident called him for a quick summary of his treatment of Justina.

In April, doctors told Justina that she was being transferred to Bader 5 — the hospital’s psychiatric ward that focuses on the treatment of seriously troubled children who may pose a risk of harm to themselves or others.

http://www.bostonglobe.com/metro/2013/12/15/justina/vnwzbbNdiodSD7WDTh6xZI/story.html

It appears quite plain from the Boston Globe article that Justina spent two months in the neurology ward.

 

[liljim]

none of that even matters because only people that have no knowledge of how things work would think that one doctor or psychiatrist makes final decisions regarding diagnosis'

yes, lunatics - ths first doctor that saw her when she walked in the door immediately diagnosed her and then children's hospital just defends that diagnosis to the end of the earth...

patients have teams, that discuss and debate things - vigorously, teams have supervisors and administrators that review their decisions.

 

[jaunty-girl]

Wow, it would appear that most of the facts that keep being repeated by the people who support the family, are debunked in these last few posts. I too am guilty of being educated by incorrect information in this thread. Now I am further convinced that Lou and the people he's brought into his daughters life, are all charlatans. I truly hope that now that Justina is back in the custody of her family, that she manages to stay well. Sadly I do not believe that they have her best interests at heart, as evidenced by their continued attention seeking behavior.

 

[here]

http://mda.org/print/book/export/html/32276
Published on MDA (http://mda.org)
Home > Learn About Muscle Diseases > Mitochondrial Myopathies > Diagnosis

None of the hallmark symptoms of mitochondrial disease — muscle weakness, exercise intolerance, hearing impairment, ataxia, seizures, learning disabilities, cataracts, heart defects, diabetes and stunted growth — are unique to mitochondrial disease. However, a combination of three or more of these symptoms in one person strongly points to mitochondrial disease, especially when the symptoms involve more than one organ system.

To evaluate the extent of these symptoms, a physician usually begins by taking the patient’s personal medical history, and then proceeds with physical and neurological exams. At the bottom of this page is a chart that explains in detail these tests and what they are expected to show.

Diagnostic tests in mitochondrial diseases

The physical exam typically includes tests of strength and endurance, such as an exercise test, which can involve activities like repeatedly making a fist, or climbing up and down a small flight of stairs. The neurological exam can include tests of reflexes, vision, speech and basic cognitive (thinking) skills.

Depending on information found during the medical history and exams, the physician might proceed with more specialized tests that can detect abnormalities in muscles, brain and other organs.

The most important of these tests is the muscle biopsy [1], which involves removing a small sample of muscle tissue to examine. When treated with a dye that stains mitochondria red, muscles affected by mitochondrial disease often show ragged red fibers — muscle cells (fibers) that have excessive mitochondria. Other stains can detect the absence of essential mitochondrial enzymes in the muscle. It’s also possible to extract mitochondrial proteins from the muscle and measure their activity.

In addition to the muscle biopsy, noninvasive techniques can be used to examine muscle without taking a tissue sample. For instance, a technique called muscle phosphorus magnetic resonance spectroscopy (MRS) can measure levels of phosphocreatine and ATP (compounds that are often depleted in muscles affected by mitochondrial disease).

CT scans and MRI scans can be used to visually inspect the brain for signs of damage, and surface electrodes placed on the scalp can be used to produce a record of the brain’s activity called an electroencephalogram (EEG).

Similar techniques might be used to examine the functions of other organs and tissues in the body. For example, an electrocardiogram (EKG) can monitor the heart’s activity, and a blood test can detect signs of kidney malfunction.

Finally, a genetic test can determine whether someone has a genetic mutation that causes mitochondrial disease. Ideally, the test is done using genetic material extracted from blood or from a muscle biopsy. It’s important to realize that, although a positive test result can confirm diagnosis, a negative test result isn’t necessarily meaningful.

Diagnostic Tests in Mitochondrial Diseases

Type Test What it shows
Family history Clinical exam or oral history of family members Can sometimes indicate inheritance pattern by noting “soft signs” in unaffected relatives. These include deafness, short stature, migraine headaches and PEO.
Muscle biopsy
1. Histochemistry

2. Immunohistochemistry

3. Biochemistry

4. Electron microscopy

1. Detects abnormal proliferation of mitochondria and deficiencies in cytochrome c oxidase (COX, which is complex IV in the electron transport chain).

2. Detects presence or absence of specific proteins. Can rule out other diseases or confirm loss of electron transport chain proteins.

3. Measures activities of specific enzymes. A special test called polarography measures oxygen consumption in mitochondria.

4. May confirm abnormal appearance of mitochondria. Not used much today.

Blood enzyme test
1. Lactate and pyruvate levels

2. Serum creatine kinase

1. If elevated, may indicate deficiency in electron transport chain; abnormal ratios of the two may help identify the part of the chain that is blocked.

2. May be slightly elevated in mitochondrial disease but usually only high in cases of mitochondrial DNA depletion.

Genetic test
1. Known mutations

2. Rare or unknown mutations

1. Uses blood sample or muscle sample to screen for known mutations, looking for common mutations first.

2. Can also look for rare or unknown mutations but may require samples from family members; this is more expensive and time-consuming.



Disease:
Mitochondrial Myopathy [2]
Source URL: http://mda.org/disease/mitochondrial-myopathies/diagnosis
Links:
[1] http://quest.mda.org/article/simply-stated-muscle-biopsies
[2] http://mda.org/disease-name/mitochondrial-myopathy

 

[here]

http://quest.mda.org/news/new-forms-genetic-testing-improve-diagnosis-raise-questions

New Forms of Genetic Testing Improve Diagnosis, Raise Questions
This first of a series of three stories covering the 2014 MDA Clinical Conference discusses implications of new types of genetic testing

 

[here]

http://mda.org/quest/new-guidelines-genetic-testing-children

New Guidelines on Genetic Testing in Children
As scientists learn more about what our DNA can tell us about health and disease, public interest has intensified and genetic testing has become increasingly common. In response, the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG) have released new guidelines to address updated technologies and new uses of genetic testing and screening in children.

New recommendations address diagnostic and carrier testing; newborn screening; predictive genetic testing (which may identify a child’s risk of developing later- or adult-onset conditions); histocompatibility testing (sometimes referred to as “tissue matching” adoption; the sharing of test results; paternity testing; and direct-to-consumer testing, which refers to tests marketed directly to the public.

<modsnip>


Type:
Quest Magazine

 

[here]

http://mda.org/research/gaag/mitochondrial-myopathies-marilena-d-aurelio-phd

Mitochondrial Myopathy
Marilena D&#8217;Aurelio, assistant research professor at Weill Medical College of Cornell University in New York City, was awarded an MDA research grant totaling $300,000 over a period of three years to test whether dietary supplementation can be therapeutic in mitochondrial myopathies.
<modsnip>

 

[here]

http://mda.org/disease/mitochondrial-myopathies/medical-management

Medical Management

While mitochondrial myopathies and encephalomyopathies are relatively rare, some of their potential manifestations are common in the general population. Consequently, those complications (including heart problems, stroke, seizures, migraines, deafness and diabetes) have highly effective treatments (including medications, dietary modifications and lifestyle changes).

It’s fortunate that these treatable symptoms are often the most life-threatening complications of mitochondrial disease. With that in mind, people affected by mitochondrial diseases can do a great deal to take care of themselves by monitoring their health and scheduling regular medical exams.

Ataxia and mobility issues

Often, mitochondrial encephalomyopathy causes ataxia, or trouble with balance and coordination. People with ataxia are usually prone to falls. Sometimes, people with mitochondrial myopathies experience loss of muscle strength in the arms or legs. These problems can be partially avoided through physical and occupational therapy, and the use of supportive aids such as railings, a walker, a cane, braces, or — in severe cases — a wheelchair.

 

[Linda7NJ]

http://mda.org/disease/mitochondrial-myopathies/medical-management

Medical Management

While mitochondrial myopathies and encephalomyopathies are relatively rare, some of their potential manifestations are common in the general population. Consequently, those complications (including heart problems, stroke, seizures, migraines, deafness and diabetes) have highly effective treatments (including medications, dietary modifications and lifestyle changes).

It’s fortunate that these treatable symptoms are often the most life-threatening complications of mitochondrial disease. With that in mind, people affected by mitochondrial diseases can do a great deal to take care of themselves by monitoring their health and scheduling regular medical exams.

Ataxia and mobility issues

Often, mitochondrial encephalomyopathy causes ataxia, or trouble with balance and coordination. People with ataxia are usually prone to falls. Sometimes, people with mitochondrial myopathies experience loss of muscle strength in the arms or legs. These problems can be partially avoided through physical and occupational therapy, and the use of supportive aids such as railings, a walker, a cane, braces, or — in severe cases — a wheelchair.

Does it come and go?
Or does mobility decline over time?
All these months of physical therapy Justina has had, hasn't restored her mobility..


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[Morag]

]Does it come and go?
Or does mobility decline over time? [/B]
All these months of physical therapy Justina has had, hasn't restored her mobility..


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BBM
We "know" it comes and goes because (from notes):
October 2012 when she began having what is described as odd movements of her right leg which caused her foot to pronate. She was seen by an orthopedic doctor, Dr. Webster at Tufts who prescribed a brace for the leg. Over time Justina's abnormal movements began to affect the left leg and now the rest of the body is affected. Her mother reports that over the past week she has had increased weakness which cause (sic) her to not be able to walk.

In October her foot was pronating, and she was prescribed a brace, then the left leg and body became affected. Sometime between October and Christmas, she was ice skating, and probably not wearing a brace when she did so. Then she became unable to walk again sometime after the "ice show."

So perhaps she will be able to walk again just as suddenly as she stopped.

 

[Linda7NJ]

BBM

We "know" it comes and goes because (from notes):

October 2012 when she began having what is described as odd movements of her right leg which caused her foot to pronate. She was seen by an orthopedic doctor, Dr. Webster at Tufts who prescribed a brace for the leg. Over time Justina's abnormal movements began to affect the left leg and now the rest of the body is affected. Her mother reports that over the past week she has had increased weakness which cause (sic) her to not be able to walk.



In October her foot was pronating, and she was prescribed a brace, then the left leg and body became affected. Sometime between October and Christmas, she was ice skating, and probably not wearing a brace when she did so. Then she became unable to walk again sometime after the "ice show."



So perhaps she will be able to walk again just as suddenly as she stopped.

From mito support boards it seems it gets progressively worse (Mobility)

As a parent, I would welcome another explanation that offered a better prognosis.



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[jaunty-girl]

From mito support boards it seems it gets progressively worse (Mobility)

As a parent, I would welcome another explanation that offered a better prognosis.

With the older sister suffering from Mito, you would think that the Pelletiers would know that it gets progressively worse. The fact that they kept telling the media and anyone that would listen, that BCH was making their child worse, is odd. If she does have Mito, she very likely will not get any better, at least that's what I am gathering from reading this stuff. I wonder if her medical records reflect that she does yoyo in her condition. That could certainly explain the Somatoform diagnosis.

Facts everywhere, this is nice.

 

[annahanna]

BBM
We "know" it comes and goes because (from notes):
October 2012 when she began having what is described as odd movements of her right leg which caused her foot to pronate. She was seen by an orthopedic doctor, Dr. Webster at Tufts who prescribed a brace for the leg. Over time Justina's abnormal movements began to affect the left leg and now the rest of the body is affected. Her mother reports that over the past week she has had increased weakness which cause (sic) her to not be able to walk.

In October her foot was pronating, and she was prescribed a brace, then the left leg and body became affected. Sometime between October and Christmas, she was ice skating, and probably not wearing a brace when she did so. Then she became unable to walk again sometime after the "ice show."

So perhaps she will be able to walk again just as suddenly as she stopped.

Maybe. If Justina truly has a Mitochondrial Disease, her inability to walk could be from mitochondrial myopathy. Although if that is the case, it is unusual (not impossible but unusual) that she has not had good and bad days throughout this past 16 months. If she has truly not walked or actively participated in PT and OT throughout this time period, she will have to recover from muscle wasting and atrophy and possibly joint issues - regardless of the reason for her inability to walk. I would be very surprised if she just suddenly started walking again. Whatever caused her to stop walking (physical, psychological, behavioral), I suspect that it is going to be a very long road back.

*Edited to add: The reason that I question if this "inability to walk" is physical, psychological, or behavioral is because, from my conversations with the mothers that I know of "Mito" kids, the progression of Justina's "paralysis" does not follow the typical pattern of very slow decline over years (not months) with good days scattered throughout where their mobility appears improved. It is possible that Justina has an atypical presentation. I suppose it is also possible that these kids with confirmed diagnoses via muscle biopsy and lab work have an atypical presentation of their mobility - but that is less likely.

 

[annahanna]

http://mda.org/disease/mitochondrial-myopathies/medical-management

Medical Management

While mitochondrial myopathies and encephalomyopathies are relatively rare, some of their potential manifestations are common in the general population. Consequently, those complications (including heart problems, stroke, seizures, migraines, deafness and diabetes) have highly effective treatments (including medications, dietary modifications and lifestyle changes).

It’s fortunate that these treatable symptoms are often the most life-threatening complications of mitochondrial disease. With that in mind, people affected by mitochondrial diseases can do a great deal to take care of themselves by monitoring their health and scheduling regular medical exams.

Ataxia and mobility issues

Often, mitochondrial encephalomyopathy causes ataxia, or trouble with balance and coordination. People with ataxia are usually prone to falls. Sometimes, people with mitochondrial myopathies experience loss of muscle strength in the arms or legs. These problems can be partially avoided through physical and occupational therapy, and the use of supportive aids such as railings, a walker, a cane, braces, or — in severe cases — a wheelchair.

I have always wondered why Justina went from a brace on one foot (that she obviously only used "as needed") to a wheelchair practically overnight. A more typical progression of "Mito" myopathy would have taken her from one brace to two, possibly to more extensive braces, to a crutch to two, to a walker, before moving to a constant wheelchair situation - with lots of PT and OT in the interim to try to slow down the process.

In My Opinion, there MAY be "Mito" as a base cause of her "inability to walk", but there is likely another contributing factor at work.

 

[Linda7NJ]

...duplicate

 

[Linda7NJ]

Yes, coddling

and her hearing about media reports that she's near death sure wouldn't help.

Doesn't sound like she was getting PT prior to this.


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[jaunty-girl]

I think about one article that basically said that at some point the family visits were just completely cut off and dropped to 1 hour a week. Then another talking about her behavior when her mother was around. Perhaps they noted that Justina was making progress and then her parents would come around and then she would stop wanting to co-operate. Just like when divorced parents have visitation and you have one parent poisoning the childs mind about the other.

Since we do not have access to the records all we can really do is speculate. From the sounds of things even after the visitation was cut short, the parents spent their limited time harassing staff and badgering their daughter with questions about what the horrible nazis were doing to her. If the hospital staff observed progress without the parents and regression with the parents, that would support a somatoform diagnosis, wouldn't it?

Even if the intent is to sue the state of MA and BCH, I would feel so much better of the family would just concentrate on the child being home. For me a caring family would be far more concerned with getting their child better and helping her transition back into a normal home life, versus the continued attention seeking.

 

[annahanna]

The next morning, Lou arrived at the hospital, still enraged. After conferring with his wife, he strode over to the ninth-floor neurology nurses’ station and introduced himself as Justina’s father.

Now, as Lou scanned the neurology floor, he noticed that hospital security guards were blocking every exit, focusing their eyes on him.

he was told Flores was not on call, and later that he wasn’t coming in. Instead, a young neurologist, Dr. Jurriaan Peters, took the lead in Justina’s care. Peters tried to draw out Justina by making the shy teenager guess where he was from, based on his accent. It was a good ice-breaker, and Justina smiled, though she declined to hazard a guess.

As tensions with Justina’s parents were rising, Newton reached out to Korson at Tufts, though not for his views on Justina’s medical care. Her call was primarily to tell Korson that Children’s had begun investigating the Pelletiers for possible medical child abuse. The only other contact with Korson had come Monday, when a Children’s neurology resident called him for a quick summary of his treatment of Justina.

In April, doctors told Justina that she was being transferred to Bader 5 — the hospital’s psychiatric ward that focuses on the treatment of seriously troubled children who may pose a risk of harm to themselves or others.

http://www.bostonglobe.com/metro/2013/12/15/justina/vnwzbbNdiodSD7WDTh6xZI/story.html

It appears quite plain from the Boston Globe article that Justina spent two months in the neurology ward.

In addition to the above, since the head of the Mitochondrial Disease Team at Boston Children's Hospital is a pediatric neurologist, the "Mito" kids are almost always hospitalized on the neurology floor. The exception would be if the child needed specialized care - like cardiology or psychiatry - that was offered on another floor.

 

[Yoda]

Do you have a bullhorn?


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Yes, yes I do.