48 Mann St
Cheektowaga NY 14206
Phone:  716-725-3212

Million Dollar Milestone

MACPAD Reaches $1 Million Raised for PKU

May 15, 2011

By Virginia Harrison, MACPAD Board member

Lancaster, Pa.-This spring, the Mid-Atlantic Connection for PKU and Allied Disorders (MACPAD) will reach its $1 million milestone in funds raised for phenylketonuria (PKU) research and awareness activities. Since the creation of MACPAD's research fund in 2000, the all-volunteer organization has funded 13 research projects that have led to the significant advancement of treatment for PKU. Its funds have helped develop Kuvan, the first prescription medicine to lower phenylalanine levels in one-third of PKU patients, and PEG-PAL, which is currently in clinical trials to treat patients who do not respond to Kuvan.

"This milestone is the ultimate achievement for MACPAD because it reflects the organization's dedication to making a difference in the lives of individuals and families with PKU," says Judy Griffith, a current and founding board member of MACPAD. "Reaching $1 million in just 13 years of our existence is a reflection of the tenacity and dedication of the individuals who have made it happen."

In addition to research dollars raised, MACPAD has been instrumental in connecting members of the PKU community by collaborating to form the National PKU Alliance (NPKUA) and creating National PKU Awareness Month in May. Its five chapters in states across the mid-Atlantic region organize numerous community and fundraising events each year, and it publishes a free tri-yearly newsletter for more than 650 members. MACPAD has also sponsored four national conferences and provides support to families through initiatives like its Newborn Basket program.

"We formed MACPAD to encourage the exchange of ideas and enrich the lives of people with PKU," says former President Sharon Johnstone. "We have grown to accomplish so much more."

Today, MACPAD is the largest local PKU nonprofit organization in terms of donations received, community events held, and research funds raised.

"I view MACPAD as the backbone of the PKU community," says Dr. Ray Stevens, who discovered Kuvan and currently works on PEG-PAL. "One of the biggest struggles with PKU communities is continued growth and leadership, and MACPAD has navigated this better than anyone. MACPAD is unique in their continuity, growth, impact, and national leadership.

"The energy and drive of the people of MACPAD gives me the strength, desire, and courage to continue PKU research. These people care, and they push me to a higher level to want to care."

In addition to advancing Kuvan and PEG-PAL research, MACPAD funds have helped advance research on GMP (a whey protein with very little phenylalanine that may

revolutionize the foods and formulas available to patients) and methods to control blood phe levels in pregnant women with PKU whose offspring are at risk for birth defects if maternal phe levels are too high. Currently, MACPAD supports research through the National PKU Alliance for liver cell transplantation to cure PKU, GMP to control bone density problems in some PKU patients, and long-term health of PKU moms and their offspring.

"The funding I received from MACPAD was absolutely critical in helping me receive a $1.2 million grant from the National Institute of Health," Dr. Stevens says of his work on Kuvan. "We could not have done the initial experiments without the funding."

MACPAD was founded after the birth of Judy's son, Charley, in 1997. Looking for a support network of other PKU families, Judy, her sister Laura Assayag, and father Bob Johnstone, attended a conference held by the New England Connection for PKU and Allied Disorders (NECPAD), which called for more local organizations to be founded across the nation. What began as a casual conversation on their car ride back to Pennsylvania became a passion to create an organization supporting the mid-Atlantic PKU community. On May 8, 1998, MACPAD was officially formed with Laura the first president; Sharon the first vice president; Judy the first secretary; and Bob the first treasurer.

"MACPAD was never about money," says treasurer Bob Johnstone. "Our mission is and always was to provide information and support to PKU families. An important part of that support became support of PKU research."

In 2007, MACPAD collaborated with organizations across the country to form the NPKUA, the first national PKU nonprofit organization to even further connect the community and advance research. MACPAD volunteers provided free legal advice to form NPKUA's bylaws and membership agreements; created the organization's first budget; and raised more than $21,500 to pay start-up expenses and nonprofit registration fees.

"MACPAD has been extremely lucky in attracting the many people who volunteer to help us," Bob says. "Their commitment to serving the PKU community is unmatched anywhere else."

Even with all of the accomplishments, the Million Dollar Milestone is only the beginning.

"Reaching this milestone lays the foundation of our future," says president Jill Ambrogio, whose daughter has PKU. "Our organization is only getting stronger thanks to the dedicated volunteers who bring new ideas and while incorporating others' experience and knowledge we have from the past."


The Mid-Atlantic Connection for PKU and Allied Disorders (MACPAD) is a nonprofit 501(c)(3) organization dedicated to improving the health and well-being of individuals and families affected by phenylketonuria (PKU) and related metabolic disorders. The mission of MACPAD is to enrich the lives of individuals and families of individuals with inherited metabolic disorders by disseminating information, providing supportive activities and encouraging the exchange of ideas.

Phenylketonuria (PKU) is an inherited genetic metabolic disorder in which the enzyme required to digest phenylalanine (PHE), a part of protein, is either missing or does not work correctly. As a result of this missing or defective enzyme, individuals with PKU, if untreated, will develop high levels of PHE in their blood, which affects brain development and function causing severe mental retardation. With treatment that includes a special low-protein diet for life, formula supplement, and frequent blood monitoring, individuals with PKU can live normal, healthy lives.

Contact: Virginia Harrison,