These are select articles originally published in the NBIA Disorders Association newsletter, written by Patricia Wood, president and founder of the organization. She shares her experiences in living with NBIA over the years, in the hopes that it will help other families in dealing with the often difficult and devastating impact NBIA has on their lives. It also chronicles the growth of our organization since its inception in 1996.
The articles are in chronological order from 2003 - 2014. Update: In June 2014 her daughter, Kimbi, turned 28 years old. In 2010, Kimbi got an intrathecal baclofen pump and since then, has been stable with very few bouts of hard dystonia.
Don't be afraid to question prognoses by physicians
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.
Lots of calls bring sad news but reasons to hope remain
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.
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.
Thanks to all who helped us make it through 2005 and best wishes for a happy and healthy 2006.
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?
NBIA Association's Anniversary Cookbook brings back memories; inspires food ideas
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.
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.
When Dr. Susan Hayflick told me that her all-important federal grant was denied and her lab at
the Oregon Health & Science University would probably have to close by the end of the year, I still could not believe it. I had known this was possible, but reading the message in her e-mail shook me to the core.
This could not be happening to the person who has been my friend and my hope all of these years. My path has been tied to Dr. Hayflick's since I met her in 1996. I flew from San Diego to Oregon immediately after learning a researcher was interested in the disease that was robbing my daughter of her abilities.
We decided to work together that day to create an organization that provided more information than the small paragraph I found in the Mayo Clinic medical library hours after Kimbi was diagnosed in
1989.That paragraph has proven itself to be full of inaccuracies. Dr. Hayflick and I wanted to unite NBIA families and promote research. Thirteen years later, we can say that much progress has been made, and newly diagnosed families have so many more options than my family had in 1989. But there is still much to be done.
Dr.Hayflick is the major reason I have hope that a treatment will be found to help many of those affected by NBIA. She is the reason I believe that a cure is possible.
A few weeks ago, I started thinking about ways to raise $250,000 quickly to keep her lab open for the next two years and the lottery came to mind. I've seldom played but off I went to the 7-11
convenience store to buy my chance for a miracle. I asked the clerk many questions — how many numbers do I pick, how much is the jackpot, how soon is the drawing? I could see by the look in his eyes he was contemplating what crime I had committed and why I was so desperate to win.
I thought surely God would see this was a good cause and intervene so that my numbers would come up. It didn't happen, but I am still buying tickets — just in case.
Now, I am reconciled to thinking that it seems we are going to have to make this miracle happen the old-fashioned way — by working hard and hoping that somehow, some way, everything will work out.
I simply can't image another alternative.
So I'm asking everyone who receives this newsletter — or anyone who is interested in our cause — to come forward and help us make the Hayflick Lab Campaign a success. Please pass this information on to your family, friends and associates and ask them to help us.
You can make a difference.
In desperate times, I think it's helpful to recall the words of anthropologist Margaret Mead. She said, "Never doubt that a small group of thoughtful, committed citizens can change the world; indeed, it's the only thing that ever has."
As always, the organization keeps me busy, but the past eight months have been a whirlwind of non-stop activity. I, and many others, have been working on the Hayflick Lab Campaign and garnering support for the federal appropriations bill so that funding for NBIA is included. We are learning how everything works in Washington and I have found it very interesting.
I took my daughter Kimberly with me when our executive director, Luann Rein, and I visited staff of each of our House and Senate members. I was encouraged by their interest and willingness to help, and surprised by Kimberly's interest in the conversations.
Usually, she complains loudly when she is bored, or she will fall asleep with the hope that something more interesting will be going on when she awakens. This time, she did neither. It felt like she was listening to the conversations, and as we discussed how NBIA affected our families, I wondered what she was thinking.
I have been thinking lately about how we are now dealing with more severe problems brought on by living with the disorder for so many years. We visited an endocrinologist who is recommending a yearly bisphosphonate infusion to help with calcium loss because of osteoporosis. Kimberly has started taking vitamin D and calcium supplements, and we recently had a body scan to check her bone density. There are some side effects to the infusion therapy and we need to weigh the benefits and risks so we can make a correct decision, I hope, soon.
Then we saw a neurosurgeon for her scoliosis, which has been getting worse. Anything over 50 degrees is considered high. She is at approximately 110 degrees.
The neurosurgeon said if Kimberly is going to live for another 5 to10 years, God willing, a surgery to put rods in her back is necessary. It is a very big operation — and scary. I have seen other NBIA individuals quickly worsen after surgeries because of the stress it places on their body. And there is a 7 percent risk of a life-threatening infection immediately after the surgery. Her pulmonologist has warned there is a risk she might not be able to come off of the ventilator afterward.
What if this surgery shortens her life or doesn't add to the quality of it? The surgeon says it will not help with her back dystonia and the pain management doctor says the stress of surgery will no doubt make her dystonia worse. That doctor says that she should have a baclofen pump put in before the back surgery to see if it helps with the dystonia. That would require another surgery.
Doctors also say if Kimberly's right knee is not helped by the baclofen pump, a surgery to help it bend is also necessary before the back surgery can be performed.
That means three possible surgeries in a short time frame when she has only had four in her 23 years: a hernia caused by falling on her stomach when she was two because she couldn't bend her legs to cushion the fall. A piece of glass pierced her stomach. The next was for her feeding tube when she was 3, a tracheotomy at 19, and a surgery to remove her dislocated left hip socket last year after a fracture.
I guess we have been lucky so far to have avoided more surgeries, as I know many NBIA families who have been through many more.
I read the neurosurgeon's report from our recent visit. It was strange to see names given to things I had just accepted without much thought. Clubfeet, wrist flexion contractures, right knee contracture, femur with apex anterior bowing. Right hip flexes only 45 degrees, and both elbow and wrist are held in flexed positions, with notable contractures to her fingers bilaterally. She can only hold her head rotated to the right and cannot turn it midline or to the left.
So many decisions to make, and these are not unique to my family. All NBIA families wrestle with these types of problems daily and try to keep a good quality of life while doing so.
This is why we are working so hard to fund research. No one should have to make the kind of decisions NBIA families have to make on a daily basis. Yet we must. We have no choice.
At 15 years, I look forward with optimism
The proudest achievement in my life is being a mother. That is my heart and soul. That led me to my second biggest achievement – founding the NBIA Disorders Association. Helping other mothers and families struggling with this sometimes difficult path yet knowing I am doing my part to help find treatments and, ultimately, a cure for these devastating disorders, is incredibly rewarding.
Officially, Sept. 23 is our organization’s 15th anniversary. The federal government recognized us as a non-profit on that day in 1996, although we didn’t get the news until February 1997. And it wasn’t until January 1998 after I had sold my share of a business that I dove into the work of the organization.
I remember our first Family Conference and Scientific Workshop in 2000 better than any other, including this last one where some of the days are a bit of a blur! One memory in particular from that first conference stands out. I looked around at the scientists and families gathered together for a session and said to myself, “No one can take this away from me. No matter what else I do with my life, I helped bring all of these people together. I made a difference.” That has sustained me through some hard times with the organization, like in 2009.
After our 2009 family conference, the mood was sad. We had fears that our key research site, the Hayflick Lab at the Oregon Health and Science University, would close because of a lack of federal grant support. It seemed like all of our hard work might have been in vain. But we didn’t give up even though many said we couldn’t raise $250,000 to keep the lab going. We raised the money, and it paid off. So many people can take credit for helping to make a difference during that difficult time.
What struck me the most about this year’s conference was how changed the mood was. Instead of worry and sadness, there was hope and excitement at the progress happening in our NBIA world. New researchers have joined our quest for a cure. New collaborations are being formed and expanding our knowledge in profound ways. Our enthusiasm and optimism have returned. We got our groove back –thanks to all we have learned and achieved these past 15 years.
So this fall we need to raise big bucks to fund all the research grants that will help us continue to move forward in our quest for a cure. And it seems like a reachable goal to me – that if we work together as we did in 2009, we can make things happen.
The theme of our conference was “Collaboration is Key.” I am someone who instead of asking, ‘Why me?’ prefers to ask, ‘Why not me?’ And, ‘Why not you?’ Let helping to find a cure for NBIA disorders be a part of your legacy, too.
By the time my daughter, Kimbi, was 4, she had already lost the ability to walk, talk, swallow and even lift her head. She could still move her hands and fingers, and her classroom aides tried to get her to hit a button connected to a speaking device so she could tell them what she needed. It was trial and error, and I felt we were missing so many things that her bright eyes told me she wanted to say.
When she was about 10, I heard of a computer with an eye gaze system that worked by using the eyes to follow dots on a computer screen. It sounded promising, so we found one at a school and they let us use it to see if it worked for her as it cost some exorbitant amount to purchase one. I worked with Kimbi three times a week, trying to help her master the technique.
At first Kimbi was excited and tried very hard, but the difficulty soon wore her out. She became defeated. Then, she refused to try. The idea of the device was good, but the technology hadn’t advanced enough for someone with her level of disability.
About that same time, I read a newspaper article about a research group working with monkeys on a similar concept. The scientists were trying to figure out how to have the monkeys move objects by simply thinking about them.
I was fascinated. It gave me hope that someday there might be a device that Kimbi could operate in the same way. Her mind was not the problem. But I had no idea how long it would take to achieve substantial progress—or even if it would happen in my lifetime.
Now it is 16 years later, and I’ve been following that group’s work all these years. They have made amazing strides and have a human clinical trial in progress to see if the device is safe and effective. Last year, they were on 60 Minutes. It featured a paralyzed woman who was able to pick up a cup of coffee by using her thoughts. She could also operate a cursor on a computer, opening up her world in so many ways.
The research group is BrainGate at Brown University in Providence, R.I. I’m excited to report that one of their researchers will speak at our family conference in April. I explained to them how exciting this was and how it gives hope to families and individuals that communication and quality of life could be improved in ways that were unimaginable just a short time ago.
Who knows? Maybe one day my daughter and other NBIA individuals will be moving a cursor on a computer and communicating with us in ways that just aren’t possible today. It is truly mind boggling to me how fast technology is moving and how much progress researchers are making in so many different areas of science.
I can’t wait to hear more about BrainGate in April.
If you’d like to view a short 60 Minutes clip on this work – go to http://cnettv.cnet.com/60-minutes-braingate-movement-controlled-mind/9742-1_53-50004319.html
I’ve been following the many leads and dead ends in the search for the missing Malaysia Airlines plane for more than a month. Hope rises that an answer is at hand, only to be dashed soon after. This has happened repeatedly over the course of the investigation and theories and facts seem to change daily.
The families waiting for news of their loved ones anguish over the uncertainty and look for answers. How did this happen? Why, who or what is to blame?
How does this relate to NBIA? It reminds me of the search by many families for answers, for some way to help the loved one in their lives who has NBIA. They must be like the plane investigators, turning over every clue in their search.
An investigator’s function is to obtain information and evidence. This is something NBIA families do continuously, especially those with children who cannot voice their needs or their pain. We must be sleuths who follow a trail looking at how everything fits together to solve a puzzle. We examine each piece, systematically, in an attempt to learn the facts about something that is not obvious, not even to the doctors and specialists we turn to for help.
Our family has experienced this twice in the last six months. First my daughter was having breathing problems in November, suddenly requiring supplemental oxygen for no apparent reason. We did all the usual tests and followed the trail to find the culprit. It took six weeks of diligent effort to figure out that her carbon dioxide levels were extremely high, a problem we solved with a Bilevel positive airway pressure, orBiPap machine.
Again in April, we made the rounds of doctor visits and tests. Sudden severe bouts of dystonia made us think the baclofen pump my daughter, Kimberly, has to control spasms was not working correctly. Then, a urinary tract infection was the suspect, followed by a kidney stone. More tests followed and more negative results.
Doctors placed a catheter because Kimberly’s bladder wasn’t working correctly and we didn’t know if that was caused by the anesthesia during a recent surgery to change her pump battery or the pain medication she was prescribed afterward. Or, perhaps neither of those was the cause.
We got no certain answers and could only do what parents in our situation would do. We investigated every lead in the hope that one will lead to a solution. Kimberly’s catheter was removed after a week, and the severe dystonia has ceased. So, maybe that was the culprit, though we were told it doesn’t usually cause severe pain. And maybe the dystonia will start again and we will be back to the drawing board.
We stopped the pain medication in case that was the cause of the bladder trouble, as it was listed as a possible side effect. Her bladder seems to be working somewhat, and we are hoping it continues to improve.
Yes, NBIA families have earned the title of investigators, and we do it out of necessity. It is one of our many jobs as we take care of our loved ones to the best of our ability. Sometimes we solve the mystery, and sometimes we never do.