Daniel Hoffman

Daniel Hoffman

Wednesday, 01 February 2017 11:16

Differences Between Bartter & Gitelman Syndrome

Sodium chloride, better known as salt, is vital for the organism, and the kidneys play a crucial role in the regulation of sodium balance. However, the underlying mechanisms of sodium balance are not yet completely understood. Researchers of the Max Delbr-ck Center for Molecular Medicine (MDC) Berlin-Buch, Charit- - Universit-tsmedizin Berlin and the University of Kiel have now deciphered the function of a gene in the kidney and have thus gained new insights into this complex regulation process (PNAS Early Edition, doi/10.1073/pnas.1203834109).

In humans, the kidneys filter around 1700 liters of blood every day, of which 180 liters are collected as primary urine and ultimately one to two liters of urine are excreted. The kidneys thus wash toxic waste products out of the body, but retain some useful substances and reintroduce them into the body, thus simultaneously regulating the salt and water balance.

Tuesday, 20 December 2016 05:18

Kasich Signs Six Bills

COLUMBUS – Today Governor John R. Kasich signed the following bills into law:

  • H.B. 166 (Green) extends the deadline for filing an application for the homestead exemption or 2 1/2% property tax rollback to the end of the tax year, to require that auditors certify Local Government Fund allocations to subdivisions by regular or electronic mail, rather than certified, to require that notices of appeal from a decision of the Board of Tax Appeals originating with a county board of revision be filed with that board and the county auditor, to clarify the effect of certain certifications related to the repealed personal property tax, and to repeal laws requiring county auditors to issue permits for traveling shows, issue licenses for new merchandise public auctions, certify the annual state tax interest rate to local courts.
  • Am. Sub. H.B. 173 (Anielski, Terhar) authorizes a county recorder or county veterans service office, with the approval of the board of county commissioners, to issue Ohio veterans identification cards.
  • Sub. H.B. 200 (Hagan) is regarding procuring, storing, and accessing epinephrine auto-injectors for which there are no patient-specific prescriptions and civil immunity of health professionals.
  • Sub. HB 359 (Duffey, Gonzales) creates an address confidentiality program for victims of domestic violence, menacing by stalking, human trafficking, trafficking in persons, rape, or sexual battery and allows wireless service account transfer in a domestic violence situation.
  • H.B. 523 (Huffman) authorizes the use of marijuana for medical purposes and establishes the Medical Marijuana Control Program.
  • S.B. 128 (Cafaro, Schiavoni) designates the thirtieth day of May as "Bartter Syndrome Awareness Day."

COLUMBUS - Yesterday, Senator Joe Schiavoni (D-Boardman) and Senator Capri S. Cafaro (D-Hubbard) introduced S.B. 128, which would designate May 30th as Bartter Syndrome Awareness Day. The Senate passed S.B. 128 with unanimous support.

“Bartter Syndrome is not well known, which often means those suffering from it wait far too long for the right diagnosis,” said Senator Schiavoni. “Raising awareness could help save families from years of pain and frustration as they search for answers.”

Bartter Syndrome is a rare, inherited series of closely related renal tubular disorders that cause the kidneys to remove too much potassium from the body. Individuals with this disease also lose an excess of sodium and chloride. There are five different types of Bartter Syndrome.

Washington, D.C. – Congressman Tim Ryan (D-OH) and Congressman David Joyce (R-OH) today introduced a resolution to designate each May 30th as National Bartter Syndrome Day. This designation would give much needed attention and increase awareness for the one million people worldwide affected by Bartter Syndrome and their families working though the difficulties associated with this little known disease. Bartter Syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and other molecules in the body. This legislation was inspired by 12 year old Ethan Hoffman from Warren, Ohio who suffers from Bartter Syndrome and with his family, has met with Congressman Ryan to brief him on the importance of increasing awareness for this disease.

Wednesday, 17 February 2016 22:25

Ohio Rare Disease Day 2016

Created by Ethan Hoffman

They say it takes a village to raise a child, but in the case of 11-year-old Ethan Hoffman, it takes dozens of medications, a team of caregivers, 2 loving parents and a very special pediatrician. Diagnosed with Bartter syndrome, an incurable kidney disorder, at age 4, Ethan’s life had been filled with questions, tests and medications since birth. For years, Ethan’s symptoms were attributed to common childhood issues until a visit with Dr. K. Gurumurthy (Dr. Guru), now a Warren Akron Children’s Hospital Pediatrics physician, revealed a life-changing condition.

 

Ethan Hoffman, 11 years old is an affluent advocate for his disorder termed bartter syndrome. He attended the Rare Disease Day Conference 2015 in Columbus Ohio with his parents. He is a warrior and champion raising awareness and advocacy for bartter syndrome.

MOST parents dream of a 5-week-old baby who sleeps through the night, but Aga Warnell knew something was wrong. Her baby, Nina, just wasn't hungry in the way her other daughters had been.

Within weeks, Nina became very ill, says her father, Graeme. She was admitted to hospital with a rotavirus infection. Then she picked up pneumonia.

It turned out Nina had a condition called severe combined immunodeficiency (SCID). She had been born without an immune system due to a genetic defect. It is also known as "bubble boy" disease, since people affected have to live in a sterile environment. "The doctors said 'you need to prepare yourself for the fact that Nina probably isn't going to survive'," says Graeme.

 

EthansCure was present at the Ohio Capital in Columbus supporting Rare Disease Day. We would like to thank NORD for organizing the event and helping us all to raise awareness for barter syndrome. Daniel Hoffman spoke on behalf of EthansCure educating those present on Bartter Syndrome and Tier 3 Drugs. Please get involved and help us bring light to a very dark field. Contact your State Representative or Congressman, join our Facebook or other social media sites to grow our community.

 

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