13 Are You Missing Out On Resources That Can Help Your Family?

Guest: Christina Broderick

Christina’s Story: Christina Broderick is a mother of 2 special needs children with Autism. Her oldest son has a rare disorder called Phenylketonuria (PKU). Phenylketonuria is a rare disorder where individuals cannot break down the amino acid that make up proteins in our food. As a result, the amino acid Phenylalanine builds up in their blood or brain and can lead to brain damage if accommodations aren’t made.

Her son was the first PKU diagnosis in over 30 years in her town of Lake Havasu City, Arizona. As a result, resources were limited. In 2010, Christina as a 19-year-old mother struggled to find a formula that was safe to feed her son. The formula she eventually found was very expensive! Christina also didn’t have a PKU specialist in her town, so she had to travel frequently typically 3.5-hour drives to Phoenix, AZ to see a specialist and get resources suitable for her son to include testing kits. For awhile all her son could eat was Rice Cereal.

Christina was contacted by a representative of NORD (National Organization or Rare Disorders). NORD is a nonprofit 501(c)(3) provides assistance programs to help patients obtain lifesaving or life sustaining medication they could not otherwise afford. These programs provide medication, financial assistance with insurance premiums and co-pays, diagnostic testing assistance, and travel assistance for clinical trials or consultation with disease specialists. NORD helped Christina with resources a variety of resources to include food, gas reimbursement, medications, and funding. NORD also introduced her the company CAMBROOKE, which provides nutrition for those with serious medical disorders like PKU.

When Christina’s son turned 6. NORD also introduced Christina to a new medication from Biomarin that was initially introduced for diabetic persons. The manufactures believed that this drug would be effective for individuals with PKU and began a study which included Christina’s son. The medication Kuvan made by BIOMARIN ended up being effective for her son. NORD’s pay for all her son’s PKU medications. Christina reports that NORD will provide support for undiagnosed individuals as well.

Recap:

1. If you have a child with a rare disorder like PKU, reach out to NORD.
2. NORD provides education support programs, funding, and resources for individuals with rare disorders.
   1. Cambrooke provides low protein foods for individuals with PKU
   2. BIOMARIN provides medication for individuals with PKU.
3. Regardless of your child’s diagnosis, you can become your child’s number 1 advocate by reaching out to see what resources may be available out there that will help your family through tough times.

Christina works at RISE Services, Inc.

Rise Services Inc. provides services that support children, adults, and families throughout Arizona, Utah, Oregon, Texas, and Idaho.

https://riseservicesincaz.org

NORD

https://rarediseases.org/for-patients-and-families/help-access-medications/patient-assistance-programs-2/

NORD Mission Statement:

NORD, a 501(c)(3) organization, is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them.  NORD, along with its more than 300 patient organization members, is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services.

CAMBROOKE

https://www.cambrooke.com/

Ajinomoto Cambrooke (formerly Cambrooke Therapeutics an expansion of Cambrooke Foods) was founded in 2000 by Lynn and David Paolella, the parents of two children diagnosed with a rare disease called phenylketonuria (PKU). PKU is one of the few genetic diseases, which is managed almost entirely with nutritional intervention. The Paolellas’ goal in forming Cambrooke was simple - to develop improved nutritional therapeutic options for those with serious medical disorders.

BIOMARIN

https://www.biomarin.com/our-treatments/products/kuvan/

Kuvan® (sapropterin dihydrochloride) Tablets and Powder for Oral Solution is the first FDA-approved medication for phenylketonuria (PKU). Kuvan is a form of BH4, the cofactor of the PAH enzyme, which helps the enzyme break down Phe. Kuvan is to be used in conjunction with a Phe-restricted diet.

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