Family Support >>>

By Angelika Klucken  

I was so inspired after attending the Second International Family Conference of the NBIA Disorders Association in Indianapolis in 2002, I wanted to share that wonderful spirit of hope and community with families in Germany who are struggling with this disease. Much progress has since been made, along with a decision that made the NBIA Research Fund $10,000 richer. Here's what happened:

In fall 2002, my husband Stephan and I joined with two other families to create a non-profit patient organization for NBIA families called Hoffnungsbaum e.V. Since then, eight families have become members, and we have loose contacts to others.

The more we got to know each other by phone, e-mails and letters, the more we wanted to meet. Stephan's relentless efforts to raise money for a NBIA Family Conference in Germany would eventually pay off. And it was great!

In September, our meeting united eight NBIA families, three scientists, some caregivers, a TV crew and a magician, "Pablo," for a weekend. The two days were so intense, so moving and impressive. All families brought their affected loved ones with them.

The children, including the healthy siblings, had their own program and enjoyed their wonderful caregivers — a group of committed young people from a church in Velbert.

At the conference on Saturday, two scientists listened attentively to stories of the patients' lives. All of the parents described vividly how NBIA crept into the lives of their children. Although the symptoms vary considerably, almost all NBIA individuals started out as "wild" or "hyperactive," regardless of onset age.

Most of the patients with a form of the disease known as PKAN have seen some slight benefit from being given B5 supplements. If the dosage is high enough, the B5 will relax muscles, alleviate sweating or help with speech. It's the same with Artane. Amazingly, no one reported benefits from oral baclofen, perhaps because of low doses.

All patients who suffer increasingly from muscle cramps sooner or later take Benzodiazepine tablets — generally in the form of Diazepam, Tetrazepam, clobazam or some other version. We heard of one patient, now 17, who was seriously addicted to Diazepam. He had to go through a withdrawal treatment and later underwent deep brain stimulation. He has since shown much improvement in muscle tone and movement control.

One of the scientists, Professor Thomas Meitinger, is director of the Institute of Human Genetics at the Technical University Munich and the GSF - National Research Center for Environment and Health.  Professor Meitinger is a member of "Mitochondriopathias in Pediatrics", a network of scientists who are especially interested in mitochondrial diseases. Within this context his team is conducting research on PKAN.  He hypothesized that even parents of PKAN individuals might show slight changes in their retina or could otherwise be slightly affected, but not know it. 

A third scientist also was present, in a "virtual" kind of way. Dr. Susan Hayflick, well known in the NBIA community, provided a PowerPoint demonstration that was shown on her behalf. She was also available via teleconference, and updated us on the latest research and answered questions. Dr. Meitinger summarized her remarks and translated her answers into German.

We were delighted to hear that the lab teams in Portland, headed by Dr. Hayflick, and San Francisco have managed to make mouse and fruit fly models to further study the PKAN form of the disease. Therapeutic testing with B5 is underway with mice and and we’ve been told that a diet with low amounts of B5 makes the mice sicker. The deeper insights gained by investigating the animal models will probably lead to new ideas for therapies.

Some parents asked if L-Dopa works for PKAN patients and Dr. Hayflick stressed that L-Dopa has turned out to be totally ineffective. Dr. Hayflick also advised families to be cautious with antioxidants because of possible side effects. She reported that a trial with Idebenone (a changed Coenzyme Q 10) in France was interrupted because patients got worse. Patients should wait for the outcomes of animal testing, which are underway at her university in Portland and in San Francisco.

Our heads were spinning after our sessions were over, so Pablo's magic show was the perfect relaxation on Saturday evening.

Also a TV crew filming for a TV magazine, "Hallo Deutschland," joined us. The program's goal is to draw attention to the destiny of people, predominantly children, with a rare disease. It also wants to show that joining a patient organization can make a difference — because families can give each other comfort as well as advice.

On Sunday, the general meeting of Hoffnungsbaum e.V. decided unanimously to donate $10,000 to the Research Fund of the NBIA Disorders Association to help assure that another research grant can be awarded for 2005. We decided that research must go on, and we're happy that we can contribute this year because donations to Hoffnungsbaum e.V. have exceeded our expectations by far. I can't list them all here. But let me only mention the fundraising success of Lucie Hauser, mom of Mario, a 30-year-old man with NBIA. She wrote a Christmas letter to her friends, colleagues and relatives, collecting more than 2,000 Euro.

The conference was all too short, but the results were lasting: We no longer feel so alone.

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