Mom of Sick Connecticut Teen 'Collapses' in Court After Judge Sends Kid to Foster Care [View all]

[magical thyme]

http://abcnews.go.com/Health/sick-connecticut-teen-justina-pelletier-foster-care/story?id=22668251

"She is not doing very well," said Staves. "Linda saw her on Friday … and there were five DCF workers present. There is no private time and she is not allowed to take cell phone photos of her daughter. ... She had red marks on her abdomen and she was very weak. It's now the third semester of school since February 2013, and they haven't given her any education, she can't attend church. It's unbelievable."

"If she had somatoform disorder, then her condition would have improved," he said. "She's not gotten any better."

Pelletier had already broken an Essex County family court judge's gag order with ABCNews.com earlier this month, saying, "I have got to save my daughter's life."


This case is so sickening...it reads like a right-wingers anti-government worst nightmare. But it's true. And terrifying. The short version is this: Justina was diagnosed with mitochondrial disease a couple years ago, which her older sister also is being treated for, and she was in treatment with metabolic specialists at Tufts. So when the newspapers write that "her parents say that she has mitochondrial disease," that is because she was effing diagnosed by doctors who actually know her and the disease, and she has been in treatment for it. She was doing well in treatment: ice skating, hiking with her dog, etc. And then she got the flu and her regular doctor was away, so Tufts suggested she go to children's because her GI specialist had recently moved there from Tufts. (Mitochondrial Diseases impact the GI tract) She never did get to see her GI specialists, because a genius at Children's with 7 whole months of experience as a doctor decided that Mitochondrial disease isn't real and that what she really had was "somatoform disorder" iow that her symptoms were psychosomatic....and reported her parents for child abuse. The Commonwealth of Mass has accused these poor people of overmedicating their daughter...for following their doctor's treatment plan to the letter!!!!! They refused to let them take her out of Children's back to Tufts, and instead essentially kidnapped her and locked her up in a psych ward. For over a year!!!!

They now pat themselves on the back for a job well done. In the meantime, they have deliberately withheld her prescribed (and desperately needed) treatment. As a result of Children's psychiatric "treatment" she is now paralyzed below the waist and wheelchair bound. She had a stroke at age 7 (a not uncommon result of mitochondrial disease) which left her learning disabled; she has been kept out of school for a year and is now forgetting how to read and write. They have treated her parents like criminals, kept her from her friends, her family, her dog, her life, locked up in a little room laying in bed in chronic, severe pain (and refused her prescribed pain medication).

From the NIH: Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. They can be caused by mutations of nuclear or mitochondrial DNA (mtDNA). Some mitochondrial disorders only affect a single organ (e.g., the eye in Leber hereditary optic neuropathy [LHON]), but many involve multiple organ systems and often present with prominent neurologic and myopathic features. Mitochondrial disorders may present at any age. Many affected individuals display a cluster of clinical features that fall into a discrete clinical syndrome, such as the Kearns-Sayre syndrome (KSS), chronic progressive external ophthalmoplegia (CPEO), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy with ragged-red fibers (MERRF), neurogenic weakness with ataxia and retinitis pigmentosa (NARP), or Leigh syndrome (LS). However, considerable clinical variability exists and many individuals do not fit neatly into one particular category.
http://www.ncbi.nlm.nih.gov/books/NBK1224/

"In some individuals, the clinical picture is characteristic of a specific mitochondrial disorder (e.g., LHON, NARP, or maternally inherited LS), and the diagnosis can be confirmed by molecular genetic testing of DNA extracted from a blood sample. In many individuals, such is not the case, and a more structured approach is needed, including family history, blood and/or CSF lactate concentration, neuroimaging, cardiac evaluation, and muscle biopsy for histologic or histochemical evidence of mitochondrial disease, and molecular genetic testing for a mtDNA mutation. "

Establishing the Diagnosis of a Mitochondrial Disorder

Mitochondrial dysfunction should be considered in the differential diagnosis of any progressive multisystem disorder. The diagnosis is most challenging when only one symptom is present; the diagnosis is easier to consider when two or more seemingly unrelated symptoms are present, involving more than one organ system. The investigation can be relatively straightforward if a person has a recognizable phenotype and if it is possible to identify a known pathogenic mtDNA mutation. The difficulty arises when no mtDNA defect can be found or when the clinical abnormalities are complex and not easily matched to those of more common mitochondrial disorders."

IOW, this is a recognized group of diseases. There are a number of ways to diagnose, with specific diagnostic criteria. And, btw, treatment is essential. It can ultimately be fatal.

From the Mayo Clinic:

Mitochondrial diseases occur when structures within a cell (organelles) that produce energy for that cell malfunction. Approximately 1,000 children per year in the U.S. are born with some form of mitochondrial disease. Most often, mitochondrial disorders are inherited. However, an uncertain percentage of patients acquire symptoms due to other factors, including exposure to mitochondrial toxins and aging.

Today, researchers have identified over 40 different mitochondrial disorders with unique genetic features. The common factor among these diseases is that the mitochrondria are unable to completely burn food and oxygen in order to generate energy, which is essential for normal cell function.
http://www.mayo.edu/research/centers-programs/mitochondrial-disease-biobank/overview

Compare this with "Somatoform Disorder":


Somatoform pain disorder
Somatoform pain disorder is pain that is severe enough to disrupt a person's everyday life.

The pain is like that of a physical disorder, but no physical cause is found. The pain is thought to be due to psychological problems.

The pain that people with this disorder feel is real. It is not created or faked on purpose (malingering).

A thorough medical evaluation, including laboratory work and radiologic scans (MRI, CT, ultrasound, x-ray), is done to determine possible causes of the pain.

Somatoform pain disorder is diagnosed when these tests do not reveal a clear source of the pain.

Prescription and nonprescription pain medications often do not work very well. These medications also can have side effects, and may carry the risk for abuse.

Chronic pain syndromes of all types can often be treated with antidepressants and talk therapy.

Cognitive behavioral therapy (CBT), a kind of talk therapy, can help you deal with your pain. During therapy, you will learn:
•To recognize what seems to make the pain worse
•To develop ways of coping with the painful body sensations
•To keep yourself more active, even if you still have the pain

Antidepressant medications also often help with both the pain and the worry surrounding the pain
http://www.nlm.nih.gov/medlineplus/ency/article/000922.htm