In the United States, a disease is considered rare if it is believed to affect fewer than 200,000 Americans. Some other countries and the European Union have similar, but slightly different definitions.

How many people have rare diseases?

According to the National Institutes of Health (NIH), there are almost 7,000 rare diseases affecting between 25 and 30 million Americans.

What are some examples of rare diseases?

Rare diseases are present across the spectrum of medical conditions. All but a few types of cancer are rare. There are also rare neurological and neuromuscular diseases, metabolic diseases, chromosomal disorders, skin diseases, bone and skeletal disorders, and rare diseases affecting the heart, blood, lungs, kidneys, and other body organs and systems. Many rare diseases are named for the physicians who first identified them. A few are named for patients or even the hospitals where they were first identified. The most complete listing of rare diseases in the U.S. is on the website of the National Institutes of Health (NIH) Office of Rare Diseases Research (ORDR) at rarediseases.info.nih.gov.

Who is affected by rare diseases?

Nearly one in 10 Americans have rare diseases. Many—but not all—of these diseases are genetic. Some are apparent at birth. Some do not appear until much later in life. More than half of the people known to be affected by rare diseases at this time are children.

How many rare diseases have treatments?

Many rare diseases still have no approved treatment. And many are not even being studied by medical researchers at this time. Often, people with rare diseases are treated “off-label” (with treatments that are not approved by FDA for their specific disease). Increasingly, patients are experiencing reimbursement problems with insurance (including Medicare and Medicaid) for off-label treatments.

What are some of the problems experienced by people who have rare diseases?

• Difficulty in obtaining an accurate diagnosis

• Limited treatment options

• Difficulty finding physicians or treatment centers with experience in treating a particular rare disease

• Treatments that are generally more expensive than those for common diseases

• Reimbursement issues related to private insurance, Medicare, and Medicaid

• Difficulty accessing medical, social, or financial services or assistance because those making the decisions are not familiar with the disease

• Feelings of isolation and of having been abandoned or “orphaned” by our healthcare system

For more information

NDRI to Assist with ARPKD/CHF Research

The ARPKD/CHF Alliance has partnered with the National Disease Research Interchange (NDRI) in Philadelphia, Pennsylvania to assist in research. This is an opportunity to better understand and develop treatments for ARPKD/CHF and improve service to the ARPKD/CHF community.  The NDRI works with many different disease patient advocacy organizations throughout the world, assisting them in learning more about a disease and to work towards finding disease specific treatments.

Diseased tissue and data are vital to research, to better understand a disease and to determine what affects it. NDRI is recognized for their collection, handling, and processing of tissue specimens in research laboratories, research projects, and timely delivery of specimens to researchers.

ARPKD/CHF patients and their families can make a difference in the research process by donating organs and/or tissue at transplant or at post-mortem (after death) for medical research. The best part about donating to this initiative is that tissue specimens are not sent or restricted to one researcher or one research laboratory, but are available to many researchers. In fact, the ARPKD/CHF Alliance’s partnership with NDRI stimulates distribution and promotes sharing of specimens with all ARPKD/CHF researchers.

There are no costs or fees for the patient or family to donate to NDRI. Additionally, donations are coordinated entirely by the NDRI staff; from consent, organ/tissue recovery, storage, to ensuring donated tissues arrive safely at researcher’s laboratories. A person or family only needs to consent, everything else is coordinated by NDRI staff.

To protect patient privacy, all tissue donations are de-identified (unidentified) before being distributed to researchers and assigned a unique identification number. As a result, no information about donated samples are made available to donors, but the ARPKD/CHF Alliance will report any significant research developments published.

To learn more about registering with NDRI as an organ or tissue donor for an upcoming transplant, or to learn about opportunities for other medical conditions, contact an NDRI Coordinator at 1-800-222-NDRI (6374). An NDRI Coordinator is available 24 hours/day for questions and to discuss donation either from a surgical procedure or at post-mortem.

ARPKD/CHF patients and families can make a difference in research!

NDRI Newsletter

NDRI’s website

Open to the Public, Attendance is free, but registration required

On March 01, 2012, the Food and Drug Administration (FDA) will celebrate the fifth annual Rare Disease Day by hosting a “FDA Rare Disease Patient Advocacy Day” to engage and educate the rare disease community on regulatory processes related to rare diseases.

This meeting is intended to enhance the awareness of the rare disease community as to FDA’s roles and responsibilities in the development of products (drugs, biological products and devices) for the diagnosis, prevention, and/or treatment of rare diseases or conditions.

This educational meeting will consist of live and interactive simultaneous webcast of presentations provided by FDA experts from various Centers and Offices, as well as from outside experts. The interactive meeting will include two general panel discussion sessions, as well as afternoon breakout sessions for more in-depth information on the roles of FDA. In addition, on-site attendees will have an opportunity during lunch to engage with FDA and outside experts in a small group setting.

Sponsors:  The FDA Rare Disease Patient Advocacy Day is supported by the Food and Drug Administration (FDA), the National Institutes of Health (NIH), the National Organization for Rare Disorders (NORD), and the Genetic Alliance.

To learn more.

On February 29, 2012, the National Institutes of Health (NIH) will celebrate the fifth annual Rare Disease Day with a day-long celebration and recognition of various rare diseases, that include activities supported by the NIH Office of Rare Diseases Research, the NIH Clinical Center, NIH Institutes and Centers, the Food and Drug Administration’s Office of Orphan Product Development, the National Organization for Rare Disorders, and the Genetic Alliance.  This is open to the public and attendance is free.

By highlighting rare disease issues, the NIH Office of Rare Diseases Research hopes to:

• Raise awareness of rare diseases
• Strengthen the voice of patients and patient advocacy groups
• Give hope and information to patients
• Bring stakeholders closer together
• Coordinate policy actions within the United States and with other countries
• Inspire continued growth of the awareness of rare diseases
• Emphasize rare disease research and the search for new therapeutics
• Get equality in access to care and treatment

Rare Disease Day at NIH will be held in the Clinical Center’s Masur Auditorium (Building 10) from 8:30 a.m. to 5:00 p.m.

To learn more.

Rare Disease Day website.

Rare Disease Day Partners.

by Linda Bevec

Six months after my daughter’s kidney transplant she began to complain of leg pain. The pain would be mild and achy at times, but so severe at other times that she’d cry and beg for Tylenol. She’s 10 years old and has been enjoying life with a healthy kidney so I assumed the leg pain might be due to growing pains or her increased activity level. Then we began to notice that her knees were turning inward and she limped when she walked. After spending a day at an area amusement park she was in tears and the pain became unbearable. So I made an appointment with a pediatric orthopedic doctor and he ordered x-rays on both legs from the hips down. The x-rays revealed that our daughter had mild rickets caused by the early years of her life living with ARPKD/CHF and poor functioning kidneys. Even through she had taken calcium and vitamin D supplements off and on over the years, it wasn’t enough to prevent significant bone damage and she will now require surgery on both knees to straighten her legs.

Rickets is caused amongst other things by a deficiency of vitamin D, calcium or phosphate. Infants and children with ARPKD/CHF are at risk for developing rickets if vitamin D, calcium and phosphate levels are not closely monitored. Symptoms and signs of rickets include bone pain, delayed teeth formation, short stature, skeletal deformities (bowlegs, knock knees, abnormally shaped skull), and decreased muscle strength. Treatment of rickets depends upon the cause, but the first step usually involves correcting any abnormal levels of calcium, phosphate, or vitamin D with supplements.

Vitamin D is a fat-soluble vitamin and can be found in foods such as eggs, fish, cod liver oil, fortified milk and orange juice and cereals – the sun’s rays also is a supplier of vitamin D!

Vitamin D is one of the key nutrients that safeguards the absorption of calcium and phosphorous. These two minerals are required for the growth and health of strong, healthy bones. Working together with our intestines, vitamin D helps to absorb these minerals which can be later transferred to our bones. Some research has revealed that the vitamin may also play a part in keeping the nervous and immune systems in good working order. If your kidneys aren’t working well then calcium is not well absorbed or transferred to our bones and phosphate is not well excreted by the kidneys.

The most common diseases brought on by Vitamin D deficiency is rickets in children and osteomalacia in adults. Rickets in children results in bones that are softer and weaker than normal bones. This softness paired with the weight of the upper body can create either a bowed or knock knee appearance in the legs. Other health problems from Vitamin D deficiency include a weakened immune system, muscular/bone pain, weight loss and insomnia.

Be sure to talk to your nephrologist about close monitoring of your or your child’s serum levels of phosphorous, vitamin D, calcium and parathyroid (PTH) hormone and to adjust supplements accordingly. Early detection and treatment can hopefully prevent bone disease, pain and surgery down the road.

There are times when Congenital Hepatic Fibrosis patients suffering from recurrent cholangitis may need a life-saving liver transplant.

United Network for Organ Sharing (UNOS) oversees organ procurement and determines the criteria and scoring systems which place patients on organ waiting lists; they determine the need and urgency with two systems:  Model for End-Stage Liver Disease (MELD) and Pediatric End-Stage Liver Disease (PELD).

With UNOS current system, recurrent cholangitis typically yields low scores, making it difficult to receive a liver.

The ARPKD/CHF Alliance requested an exception or alternate system for patients with Congenital Hepatic Fibrosis with recurrent cholangitis, as there is for patients with carcinoma of the liver, such that a life-saving transplant may be received when the score is low as in the case of recurrent cholangitis.

The existing scoring process for recurrent cholangitis is labor intensive, requires the full commitment and persistent of a medical team, and most importantly puts the patient’s life at risk.

For more information see: Organ Procurement and Transplantation Network and United Network for Organ Sharing.

by Deborah Miller, MSN, RN, CNN

The adolescent period is often a difficult time for families, and when you have a child with a chronic illness, the difficulties are compounded. The adolescent with chronic kidney disease, or the “renal teen” is no exception.  A major challenge for this age group is the need to progress from dependence on family to dependence on self.  This is often in direct conflict with the parent’s need to protect the ill child.  In most families, the parents have had the responsibility for ensuring proper care including making appointments, getting the prescriptions and being the “historian” at the doctor’s office.  These parental roles are long established, and as the child starts to make the transition into adolescence an increase in family conflict may occur.

In order to understand some of the factors at work, let us divide adolescence into three stages; each stage includes distinct developmental processes. Once the processes are identified, let us look at how illness exerts its influence, and then at some approaches families can use with their child. Keep in mind that these are generalities and children are not usually this predictable.

The early adolescent (age range 11 – 14) is in the midst of puberty. The child is preoccupied with self, particularly the questions of “am I normal” and “what can I expect.”  The parents still exert a great influence on this age group.  The child moves from elementary school to middle school at this time, and with this tremendous change comes a greatly expanded peer group.  While there are more choices for friends, there are also more chances for rejection.  Young renal teens are exquisitely aware of the biologic changes occurring during puberty and sensitive to their particular timing and rate in relation to their peers.  Many adolescents need a great deal of reassurance at this time.

Mid-adolescence is more complex. This child is the 14 – 16 age range and is very concerned with independence as well as self image. This is often when risk-taking behavior is seen, as the child is concerned with “who am I” and “do I have power.”  Acceptance is important to the mid-adolescence and peers exert a great influence.  With the transition into high school, the teen has an even larger pool of peers from which to choose.  Middle adolescents spend much less time with their families than early adolescents, and when not with their peers, they are often alone in their rooms.  The tendency to stay away from the family is consistent with trying to establish a separate identity.

The late adolescent (17 and older) is more future oriented.  This age group is increasingly concerned with issues of intimacy and career.  The questions asked are “am I smart enough,” “am I attractive enough” and “what can I do.”  The need to establish more intimate relationships drives social interaction and there is a greater influence exerted by “partners.”  This change in thinking may decrease the number of friends, but may increase the intensity of the friendships.  The older adolescent is searching for direction, and feels pressured to make “like decisions.”  The search for identity intensifies during the senior year of high school with graduation creating a deadline for decision making.

These are simple role definitions and there is a great deal of overlap between stages.  But how does chronic illness come into play?  The most obvious influences are growth and development.  Renal teens may start puberty and its associated growth spurt much later than their peers which can contribute to their anxiety.  It is hard to think of yourself as “normal” when your peers are so much bigger and better developed.  Does your child have scars?  If a child showers after gym class, the scars cannot be hidden.  This is a time when the world revolves around self so the adolescent is convinced that everyone is always looking at him or her.  And all those medications?  No “normal” kids take all those pills! What is the adolescent’s favorite food?  Big Macs, pizza, tacos, fried chicken, french fries — everyone else eats them, why can’t the renal teen?  And football — I have had children on peritoneal dialysis tell me that if they can’t play football, their life is over (this is a very dramatic stage of life).  Then there is the mortality issue.  The average teenager feels immortal which is in direct conflict with the renal teen’s chronic illness.  Is your child worried about dying?  Does this worry translate into noncompliance with medications and diet to prove they are normal?  Is there risk-taking behavior involving sexual activity or substance abuse in an effort to be like everyone else?

Here are some suggested approaches:  First, always tell your child the truth.  Don’t “protect” your child by speaking privately with the doctor as this may foster a spirit of distrust.  Encourage your child to become involved in his care by asking questions of the medical team.  This is a good time to slip out and let the physical exam be done in private so that “embarrassing” questions can be asked and reassurance given.

The renal teen needs to be treated as normally as possible.  “Normally” means chores at home, expectations of daily school attendance and academic performance to the level of his or her ability.  Renal disease should not be an excuse for poor performance.  Allow your child to experience the satisfaction that comes from hard work and work well done. Adolescents on dialysis are perfectly capable of doing dishes and cleaning their room. Mastery of tasks increases self esteem and everyone wants to feel competent.  If you never learn anything useful, how can you take care of yourself?

Always emphasize the positive, concentrate on what the child can do, not what he or she can’t do.  Encourage exercise, swimming, baseball, soccer, bike riding, tennis, etc.  There are very few restricted activities, but check with your doctor for specific recommendations. Look into summer camp.  Although regular summer camp is often desirable, there are special camps across the country for children and adolescents with renal disease.  In this environment your child will be “normal” and may find that he or she is healthier or stronger than the average renal kid.  There are often junior counselor opportunities for the renal teen who feels too old for camp.  Your social worker can help you find an appropriate camp and scholarships are often available.  Physical activity helps keep bones and hearts healthy and you don’t have to be tall to play baseball or soccer.

Lastly, don’t forget to tell your child how much he or she means to you.  Acknowledge the difficulty you are having with letting go.  Let the child know about your concerns and ask for his or her input. Finally, counseling should not be a last resort, it should be a first response.  Your facility has many services available to you; use them early and often.  With a lot of hard work, flexibility, and a good sense of humor you can successfully master the challenges of raising a responsible young adult.

By Deborah Miller, RN, CNN is a clinical nurse specialist in pediatric nephrology at Fairfax Hospital in Falls Church, Va. She is Chairman of the Pediatric Special Interest Group of the American Nephrology Nurses Association.

From —AAKP RENALIFE, a publication of The American Association of Kidney Patients.  Reprinted with permission of The American Association of Kidney Patients.

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We’d like to hear from you.

What has changed?  What are the burning questions today?  Over a decade ago we collected questions from parents, which can be viewed here.  These questions had impact, generating much interest!

What has changed and most importantly, what are relevant questions today?  Your personal input matters!

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Insurance Program Locator by State

Health Insurance Locator by State

Three Types of Insurance to Choose From

There are three types of health insurance: Medicaid, Medicare, and private insurance.  If you have questions about health insurance and/or if you are having trouble getting health insurance benefits that you need, a health insurance assistance program may be able to help you.  Programs may also be able to refer you to low-cost or free health care, including prescription drug assistance.

The programs listed in this directory handle numerous questions about Medicaid, Medicare, and private insurance.  They also can help people without health insurance. The many programs around the country vary, for example, they can have different names (e.g., Office of Health Care Ombudsman, Office of Consumer Advocacy).  They may be run by a government agency or a non-profit organization, depending upon the state.

Some programs deal with only one type of insurance, many with all types of insurance. Still other programs can help only certain types of health care consumers, such as Medicare beneficiaries or those who live in a certain city or county.  If you are not sure whether or not the agency can answer your questions, call and ask.

For an interactive state map and to learn much more, see Families of USA, The Voice for Health Care Consumers.  Referred by the Genetic Alliance.