Message From President

This summer and fall were hard for NBIA families. We lost four children in one month’s time. They all belonged to families active in the organization, families I know well. I have e-mailed with all of them over the years; two were at our family conference in May. 

Pam Stromsta was the first mother I met who had an NBIA child when I was searching for other NBIA families for two years after Kimbi was diagnosed. Kenny was the same age, and he shared a common history of the disease with Kimbi. We stayed close over the years and supported each other in good times and bad. 

Even as our circle grew over the years, somehow I felt as long as Kenny was here, Kimbi was safe, too. They had both made it through many close calls and I thought that would continue for many more years. Then, suddenly, Kenny was gone and the reality of what this disease does hit close to home. I felt very vulnerable, like every moment is precious and we don’t know when the day will come and our kids will just not pull through. 

I now know of only one other child who has lived with the severe form of the disease from a young age who is older than Kimbi – by one year. This is not a contest I ever wanted to join or to win. I want all of our NBIA children to make it into adulthood and not have to suffer the pain and discomfort so many have. 

When Kimbi was young I used to think I could not cry because I might not ever stop. But I learned we have to grieve, and then go on. Now every time I hear the sad news of someone’s passing, I cry and mourn for the family and say my prayers they will make it through their difficult time. And then I get back to the organization’s work, realizing that maybe what we are doing will help families in the future not have to endure this wrenching pain. 

Perhaps that future is not so far away. Some families are starting to turn to Deep Brain Stimulation surgery as a way to slow the progression of the disease and improve the quality of life of NBIA individuals. Many have seen promising results. Just yesterday I heard from a family whose NBIA-affected daughter had the procedure. The day after the settings were adjusted, she started speaking again, for the first time in a year. Improved speech is not even a normal outcome for DBS surgery, so what a blessing that was for this family. I would give everything I own to hear my daughter say “mama” once more. 

It is vital that we continue to support NBIA research if we want more extraordinary results like this. We need to welcome new researchers into our NBIA family and help them in any way possible to continue to improve the lives of NBIA individuals. We must never lose four of our children in one month again. 

As we celebrate this holiday season, let’s hope for continued progress and more wonderful success stories in our future.

[Top of Page]

NBIA Association's Anniversary Cookbook brings back memories; inspires food ideas  

Patricia Wood

If someone had told me at the beginning of the year that I would be excited about a cookbook, I probably wouldn't have believed it. I have no cookbooks in my house, just a small collection of favorite recipes that I've kept through the years on scraps of paper.  

My idea of cooking is making a salad and throwing a Healthy Choice dinner in the microwave. I've often eyed my daughter's complete nutrition in a can that goes inside her g-tube in less than 2 minutes as not a bad way to take care of a meal. 

But then we started collecting favorite recipes from all our NBIA families and friends as a way to raise funds and mark the association's 10th anniversary. And something strange happened. I started reading them and thinking, "Wow, that sounds good. I may have to try that sometime." That happened over and over again with more and more recipes. I also had fun reading those from different cultures and the amazing variety of recipes in each of the food categories. 

It brought back great memories too. My sister, Regina, inherited all my mother's cookbooks because she was the only one of the five girls who inherited Mom's cooking gene.  I asked Regina to find my favorite Christmas cookie recipe among the dozens Mom used to make. The Russian tea balls were my favorite. Look for the recipe in the cookbook. 

For our birthdays, Mom always made our favorite food, whatever it was, and for years on my birthday scalloped potatoes were part of the meal, so that recipe is in the book too. They are cheesy with slices of pepperoni that add a unique flavor. 

One of our board members, Sue Laupola, loved my Mom's cream cheese bars and she still makes them every Christmas for her cookie exchange. She sent in that recipe. My cousin and NBIA association board member Mary Ann Roser sent in a variation of our grandmother's recipe for spaghetti and meatballs. My grandmother would come to our house once a week and spend the entire day making her sauce and put the homemade meatballs in the sauce raw so they could cook for hours and absorb the flavor of the sauce.  Thinking of that brings back many wonderful memories of her and grandpa, who would sit my two brothers and me on his lap and tell scary stories after dinner. 

I know many of the recipes in the book come with their memories too, from the individuals and families who so generously sent them to us. In many ways, cooking for someone is an act of love. I also find it fun to think about the history behind a favorite recipe and enjoy the thought of having a cookbook made up of recipes from people I care about, which  makes this cookbook very special to me. 

So it seems very fitting that a cookbook that we all made, together, celebrates 10 years of us working toward another common goal. 

If only there was a recipe to follow for a cure.

[Top of Page]

Patricia Wood

I can hardly believe it has been 10 years since my first meeting with Dr. Susan Hayflick in Oregon and my impulsive decision to start a non-profit for NBIA while sitting in her office. 

In some ways the time has flown by and in other ways, it seems like a lifetime ago. What did I do with all my spare time before that? 

So much has happened, not just for our group, but lay advocacy groups as a whole. The Internet changed life for practically everyone, but for those with rare diseases and the people who advocate for them, it has made a profound difference. Isolation is no longer the norm. 

When Kimberly was diagnosed in 1989, little information was available about NBIA, which then was called Hallervorden-Spatz Syndrome. It took me two years to find another family affected by the disease. Today, the Internet unites individuals and families who once were far apart from others like them, physically and emotionally. 

Ten years ago, small lay advocacy groups were usually not much more than emotional support groups for affected families contacting each other by snail mail and usually restricted to the country where they lived. Today, many of us can truly say we have friends all over the globe. 

Today, even small lay advocacy organizations are becoming partners with researchers and playing a big part in furthering research into their disease of interest. Our organization’s efforts made scientific workshops possible in 2000 and 2005. 

Our ability to raise funds has resulted in seven research grants being awarded since 2002, with more to come, including at least one this year. 

In 2001, Dr. Hayflick’s lab in cooperation with Dr. Jane Gitschier’s lab in California discovered one of the genes that causes half of the cases of NBIA, a breakthrough in our understanding of the disease. 

Our participation in the BioBank is another step up the ladder. 

We are setting bigger goals each year. Ten years ago, I hoped for much of this; many of you dared to dream along with me. Together, we are steadily making progress. Will we be able to look back in another 10 years and say we have a cure for this disease? We can hope, can’t we?

[Top of Page]

Patricia Wood

My life since the last newsletter has been one of doctors, hospitals and a roller coaster ride of emotions. 

In September I rushed my daughter, Kimberly, now 19, to the emergency room. She couldn’t breathe, and a ventilator was needed to keep her alive. To come off the ventilator, she had to have surgery for a trach to help her breathe. 

We spent seven weeks in the hospital. 

Kimberly has lived with NBIA since she was 14 months and we’ve been through so many stages of the disease. Many of you have experienced these: There’s the beginning stage when you don’t know what is going on, and the search for a diagnosis. Then, dealing with the truth once you find your answer. Next comes the “bad” years when your child loses so many skills and is in so much pain that doctors tell you to prepare for the worst. After that, there are the “stable” years when you adjust and life goes on with some degree of normalcy. 

I guess I knew those stable years couldn’t last forever. I’ve watched the past few years as the disease once again is on the move and finds even more to steal from my daughter. 

For me, these seven weeks in the hospital with Kimberly were like living in a cocoon. The outside world barely existed. All we had was that small room and the doctors and nurses who came and went each day. 

It was such a relief to come home with Kimberly and feel like we were joining the real world again. But it has been quite a ride. We’ve had to call 911 twice and go back to the hospital for a few days each time. 

During fierce bouts of dystonia we’ve had to deal with a heart rate over 200, profuse sweating and 105 degree fever. When I asked our pharmacist, whom we’ve had since Kimberly was small for guidance on mixing medications we were trying, he said “You are way over my level of experience – I wouldn’t advise using any of those together.” But our children are so far beyond the norm, we have to make decisions that often stump the experts in our efforts to help them. 

What a source of comfort and valuable knowledge it is for me to be able to talk to other parents who have dealt with these identical problems and learn what they did to get through a bad night. ­I felt less alone knowing that someone else understood exactly what I was going through. 

While I believe that research is a top priority of our organization and our hope for the future, I treasure the support and understanding provided by my NBIA family. They give me the hope to get through these current challenges. 

I appreciate the listserv and Networking Program more than I can say. I sent a message to the listserv from the emergency room the first night at the hospital, and it produced many e-mails and phone calls from other parents who were helpful and could relate to my experience.  

I encourage other NBIA families to reach out and use this valuable source of support that is in place. I’ve always felt it was important, but didn’t realize just how much until now. 

[Top of Page]

April, 2005
 

Lots of calls bring sad news but reasons to hope remain
 

Patricia Wood

When my older relatives were alive, phone calls at strange hours always upset me. That was how I found out my grandmother, my mother, a favorite aunt and even a young brother-in-law had all passed away.

These past two years have been hard ones for me and my NBIA family. We've lost eight to the disease — that I know of — and there are others who are critically ill. My heart goes out to all of those families. As I have taken these sad calls during the past two years because someone has lost a son, a daughter or a sister to NBIA, I feel so helpless. I can't help but wonder when the pain will stop.

At times like that, it is easy to feel defeated. It is easy to believe NBIA will always be with us. But we have seen advances in medicine these last few years that we could not have imagined a decade ago. The discovery of a NBIA gene is a huge advance.

There is reason to hope for a better tomorrow. But we have to work for it. We must keep fighting together for the day when there is a cure for this disease. Then these phone calls will be in our past and no longer a terrible reality for NBIA families facing uncertain futures.

NBIA research is our hope. We must do all we can to promote and support research into this disease. The Second Scientific Workshop on NBIA will be held in May. This is an important step. It will bring together scientists from around the world who can share information and ideas. They also will have a chance to meet with families who grapple with this disease on a daily basis and learn from them. Those families will, I hope, include many of you gathering for the Third International Family Conference.

The Genetic Alliance BioBank of which our organization is a founding member, is another important step for our organization in our efforts to increase research into our disease. Our hope is that this will encourage new researchers to enter the field.

Families holding fundraisers in their communities to raise awareness of the disease and funds for research grants are vital also to fund the research grants we hope to continue to award in the years ahead.

We must stay strong as a family — united in our support of each other and united in our work to help find a cure. Let's pledge to never stop until the phones stop ringing.

[Top of Page]

August, 2003

Don't be afraid to question prognoses by physicians

Patricia Wood 

I have found that there are times when this disease called NBIA confounds the most experienced doctors. And I know I'm not the only parent who has been shaken by a mistaken medical judgment. 

I have received numerous e-mails and phone calls over the past six years after parents have been told by medical professionals that their child is near death and that they should prepare for the worst. 

My family was told that Kimberly had less than six months to live when she was 3.5 years old. We went into hospice and stayed for two years before it sank in that, while she had some very rough times, she was very resilient. She weathered that storm, went on to stabilize and has enjoyed some very good years. We just celebrated her 17th birthday in June! The disease moves on. We struggle, off and on, with a variety of issues, but I have a very different outlook than the one doctors prepared me for years ago. 

I tell this story to encourage other parents who are going through the storm right now to hang on. Don't lose hope. And most of all, make sure doctors don't make rash decisions that could have dire consequences. 

Just recently, the Wylie family in Tennessee was told their son, Jacob, who is 9, would not make it through the night. Jacob was in the hospital, and one doctor took it upon himself to turn off Jacob's baclofen pump -- an act that caused him and his parents a night of intense suffering. It could have ended Jacob's life. Fortunately, another doctor turned the pump back on in the morning. Jacob is now recovering at home. 

I am not arguing that we should seek to prolong the life of someone who is truly dying. But I am imploring parents to ask questions and make sure they are fully and accurately informed before major decisions are made. I also want parents to know that many NBIA children have gone through very difficult times -- and survived. 

It seems to me that after about two to four years of intense, touch-and-go episodes, many children stabilize for five to 10 years and do not have life-threatening problems during this time. My own daughter was able to participate in family activities again, go back to school and be mainstreamed. We've had some very happy memories to cherish. 

I pray for all NBIA families, that they will experience cherished memories to counter all those difficult times that go with this disease. God bless each of you.

[Top of Page]