- By Cheryl Lamos. July 25, 2012.
I was surprised one day about eight months ago when NBIA geneticist Allison Gregory called me to say that researchers had found the genetic defect that causes NBIA in my family.
The gene is MMIN. It causes mitochondrial-membrane protein-associated neurodegeneration, or MPAN.
After all these years, we had an answer.
Long ago, my three NBIA-affected children, their father, an unaffected child and I donated blood to researchers to find this answer. It has been a long journey.
We got a general diagnosis of NBIA in 1995 when it was called Hallervorden-Spatz syndrome. Daughter Becky was 18, son Bruce was 17 and Barbara was 15. My youngest child, Ben, who turned out not to have NBIA, was 10. Ben, however, was diagnosed with a seizure disorder at age 8, but fortunately outgrew it.
For nearly half-a-dozen years, I was in denial that three of my children would be cognitively impaired or suffer from spasticity and dystonia. I did not want to believe they could die young. Then, I connected with a truly amazing pediatric neurogeneticist, Dr. Joseph Higgins, and a genetic counselor, Jonathan Clyman. They told me about the Hallervorden-Spatz Syndrome Association support group, which was renamed the NBIA Disorders Association in 2003.
I missed the first family conference, but I have not missed one since. Barbara, Becky and I went to our first family gathering in 2002. I was so thrilled to meet Drs. Susan Hayflick, Penny Hogarth and their team.
Meeting with others in the same circumstances and the family support has truly changed my life. I met a family who lived only 20 miles away from me, in Niskayuna, NY, with two 2 little girls affected with NBIA. I am still friends with Gerry and Bela Barbiero today.
Dr. Higgins spent many appointments explaining the disorder. He made it easier for me to deal with what I had to face. He was honest and didn't sugarcoat the truth.
He has collaborated on research with Dr. Hayflick, helping to identify a case of PKAN, the most common form of NBIA. He told me the chances were slim my family’s genetic defect would be found during my childrens’ lives.
We lost Bruce to a pulmonary embolism in 2005. His balance had rapidly worsened, causing him to give up driving and the job he loved -- delivering mail in the state education building in Albany, NY. His bosses kept him on as long as possible, and Bruce tried using a scooter to get around in, but his cognitive abilities had also begun to decline and it was time to quit.
Becky entered a nursing home in 2008 after she could no longer speak or walk without help. I cared for her at home as long as I could with the help of aides, family and friends while working full time.
Dr. Higgins and I were pleasantly surprised as each new NBIA gene was discovered. We had either Barbara or Becky tested for all of them. Then Allison called with the news about my family’s gene.
I am excited that Ben can consider having children someday, knowing his odds of passing on the disease. If just his future wife is tested, he would know that unless she has the same genetic defect, they would not need to fear for their children. Ben is either a carrier like me and his father or he has escaped the gene mutation completely.
Allison’s call was a reminder of the importance of contributing blood to researchers. Knowing the specific genetic defect is the first step to finding a permanent treatment. I refuse to give up hope.