Yfirlýsing vegna frétta í USA

AHC samtökin í Bandaríkjunum í samráði við AHC Samband Evrópu gefa út eftirfarandi yfirlýsingu vegna frétta sem hafa farið víða síðustu vikur þar sem móðir AHC barns er sakað um að hafa logið því að barnið sé með AHC og að hafa farið í yfir 400 læknisvitjanir sem ekki voru nauðsynlegar ásamt því að setja barnið í tvær aðgerðir á þessu tímabili.

A Statement from the Alternating Hemiplegia of Childhood Community

Given the recent attention on Alternating Hemiplegia of Childhood (AHC) in the news, the AHC community is issuing this statement to provide further background on the disease. We hope this information is helpful to illustrate the complexity of AHC, the hardships endured by patients, and the challenges faced by their families.

AHC is an extremely rare disease, affecting about one in a million people. There are approximately 300 patients with the disease in the US, and approximately 1,000 worldwide. Symptoms vary, but can include hemiplegia, a type of temporary paralysis; dystonia, or painful muscle contractions; episodes of reduced consciousness; seizures; ataxia, or difficulty with muscular coordination and gait abnormality; motor and speech delays: autonomic system malfunctions; and behavioral issues. There is no cure and no effective treatment for AHC.

Symptoms can be transitory: they can be pronounced at certain times, while at other times patients can seem neurologically “normal.” Patients can appear fine one moment, but experience severe difficulty breathing, moving, or eating the next. Over time, after repeated or prolonged episodes, patients can suffer from permanent regression and lose their ability to move, talk, and eat independently. AHC can be extremely unpredictable: patients can go days or even weeks without experiencing any symptoms until symptoms hit again. Many patients rely on various interventions such as feeding tubes, oxygen, or mobility aides. To address their delays and disabilities, many patients have attended therapy (PT, OT, Speech therapy etc.) sessions multiple times each week, especially in early childhood.

AHC symptoms can vary considerably between patients. Some children experience only infrequent symptoms, while others battle severe episodes of paralysis, seizures, or dystonia on a near-daily basis. Because of the rarity of the disease and the inconsistent nature of AHC symptoms, many children are not diagnosed or are misdiagnosed for years.

AHC can be diagnosed with genetic tests, or clinically. Approximately 70% of AHC patients have mutations in the ATP1A3 gene. Other genetic causes remain unknown and diagnosis is made clinically, based on symptoms and reported symptoms. Diagnosis can be complicated because patients may have normal EEGs, even if they are in the midst of certain types of episodes. A clinical diagnosis of AHC from a disease specialist would be considered definitive for our community.

Rare diseases have few specialists available for patients, and AHC is no different. There are only a handful of specialists in the US that our foundations recommend for our families. Many neurologists and hospitals, even great ones, are unfamiliar with the disease. Many families travel across the country—and sometimes across the world—to consult the small number of world-leading AHC specialists at specific clinics in the United States.

The patient community has learned to rely on the guidance of AHC experts. We encourage our local doctors and hospitals to defer to the critical knowledge and expertise of true specialists in the disease.

Families that care for AHC patients face a number of challenges. Providing care for medically fragile patients is a constant and ever-present undertaking. The lack of familiarity with AHC on the part of the medical community can present a serious concern with negative implications for patients. Many in our community have faced skepticism and distrust from medical professionals and hospitals unfamiliar with AHC. This can pose a great risk to our children’s lives, particularly when AHC experts are not consulted regarding emergency treatments or long-term interventions. It is unfortunately a common difficulty in our community, and more widely, in the world of rare diseases.

As foundations, we support patients and their families as they navigate a tremendously difficult—and often very uncertain—path. Families are confronted frequently with difficult decisions: how can they best ensure the health and well-being of patients?

AHC is a rare and complex disease. Patients require careful, well-considered medical care. We support our community’s families as they fight for the best outcomes for their children and patients.

For more information about AHC, please contact:
Nina and Simon Frost (Hope for Annnabel) nina@hopeforannabel.org Josh Marszalek (AHCF) joshua@ahckids.org
Tony Peña (CureAHC) tony@cureahc.org

For an award-winning documentary called “Human Timebombs” depicting the symptoms of AHC and the difficulties faced by families, please see www.humantimebombs.com or contact Sigurður Jóhannesson siggijo@gmail.com.