Monday, December 9, 2013

Taking an active stance for Justina Pelletier!

The director of MitoAction has decided to take a very active stance in helping Justina Pelletier. Cristiy Balcells has been on a panel for the Glen Beck radio show. She has written an article for The Blaze as well. Mrs. Balcells is working hard to help share education and alert the world to the Pelletier's story.

What can you and I do to assist MitoAction and the Pelletier family? SHARE this letter and chime in with LOADS of support. It would be the perfect time for us ALL to send respectful personal letters to Boston Children's Hospital.

The following was posted on FB by Cristy Balcells:

Sent to the CEO of Boston Children's Hospital:

Mrs. Fenwick,

As the executive director of a national mitochondrial disease advocacy organization and a patient advocate, I implore you to investigate the treatment of Justina Pelletier who is inpatient as a psychiatric patient at your hospital.

Justina has been diagnosed with mitochondrial disease from one of the most well-respected physicians in the United States for mitochondrial medicine. She has a positive family history and her previous medical history has adequate documentation that the symptoms which she experiences are validated by laboratory and diagnostic testing.
Upon admission to your hospital in April 2012, Justina's mitochondrial disease diagnosis was disputed and she was diagnosed with somatoform disorder. Indeed, many patients with mitochondrial disorder are mistakenly diagnosed with a psychiatric condition such as somatoform disorder, especially since a hallmark characteristic of mitochondrial disease is symptoms in multiple organ systems with an unpredictable presentation.

Please take a moment to review the following:

Biopsychosoc Med. 2008 Feb 22;2:7. doi: 10.1186/1751-0759-2-7.

Symptoms of somatization as a rapid screening tool for mitochondrial dysfunction in depression.
Gardner A, Boles RG.
Division of Medical Genetics and the Saban Research Institute, Childrens Hospital Los Angeles, CA 90027, USA.
Abstract AIMS:

Somatic symptomatology is common in depression, and is often attributed to the Freudian-inspired concept of "somatization". While the same somatic symptoms and depression are common in mitochondrial disease, in cases with concurrent mood symptoms the diagnosis of a mitochondrial disorder and related therapy are typically delayed for many years. A short screening tool that can identify patients with depression at high risk for having underlying mitochondrial dysfunction is presented.

Six items of the Karolinska Scales of Personality (KSP) were found to differentiate among 21 chronically-depressed Swedish subjects with low versus normal muscle ATP production rates. A screening tool consisting of the six KSP questions was validated in the relatives of American genetics clinic patients, including in 24 matrilineal relatives in families with maternally inherited mitochondrial disease and in 30 control relatives.

Among the depressed Swedish patients, the screening tool was positive in 13/14 with low and 1/7 with normal mitochondrial function (P = 0.0003). Applied to the American relatives of patients, the screening tool was positive in 13/24 matrilineal relatives and in 1/30 control relatives (P = 2 x 10-5).

Our preliminary data suggest that a small number of specific somatic-related questions can be constructed into a valid screening tool for cases at high risk for having a component of energy metabolism in their pathogenesis.
As you are surely aware, the family in question has documentation that every test, every procedure and every medication was requested by a board-certified physician. In fact, Ms. Fenwick, I earnestly ask you to consider that the plight of this family is one faced by many families across the country when their disease is misunderstood.

On behalf of the mitochondrial disease community, I am asking you to employ common sense and investigate the details surrounding this case. Upon doing so, you will find that since this child's mitochondrial disease treatment regimen was removed in April of 2013, she has dramatically decompensated. The patient is weaker than she has ever been before. Further, despite being under the care of a team of physicians in your hospital for a number of months, she is not "better". Despite being removed from the care of her attentive and loving family, her disease state has not "reversed" but has progressed.

The lack of a guardian in litem to care for this child is equally distressing. This patient has experienced an absolute absence of a consistent adult whom she could trust and who could care for her. There are volumes of research on broken parental bonds and the tragic impact which they have on children of all ages, especially when the child is chronically ill.

Ms. Fenwick, please know that the entire mitochondrial disease community is standing strong behind this family and that we are prepared to continue to take a public position to actively support this and ALL patients and families with mitochondrial disease. I am certainly available to you as a resource to help you understand the many complexities of this disease and the challenges which our patients face.

Cristy Balcells RN MSN
Cristy Balcells RN MSN, Exec Director
Mitochondrial Disease Action Committee
PO Box 51474
Boston MA 02205
1-888-MITOACTION (888-648-6228

**Reminder MitoAction is an organization started by a mom advocating to help her child deeply affected by mito and other that need a voice. Please stop in and send a message of encouragement on the MitoAction FB page. Also if you intend to send a letter yourself please let them know so the support can be openly viewed by MitoAction and I hope Justina's family though they cannot say anything because of a gag order.