Carrier Connections: Interview with Barbara Machado
Carrier Connections is a Remember The Girls program where we feature a different X-linked disease each month and feature female "carriers" of that condition community. In the month of April, we featured Adrenoleukodystrophy (ALD).
Meet Barbara Machado
I have been an affected ALD female for 40 years. My 1st symptom when I was 23 was "pins and needles" feeling in my feet. Soon after I would drop to the floor for no reason. I learned to lock my knees when standing to help prevent this. My hips hurt so much I could not sleep. I saw a neurologist at the time who commented on my age and make up so that was it for me trying to find out what was wrong. I saw a chiropractor who did help with migraines and hip pain. My feet were so cold they hurt. Late 20s I started to fall because I was catching my toes. Back then I could get up and keep going. I did realize finally and begin to slow down so I wouldn't fall as much. Foot drop hurt and at night I started loosening the bed coverings so they wouldn't pull on my feet. My balance became worse but as with every symptom that came along I found ways to deal with them. Loss of feeling on my legs led to lots of blood when shaving my legs and when working in the yard in the summer I would be a mess but I did not feel all the scratches and cuts from crawling in my gardens. When I was 31, my son's bone marrow transplant doctor explained to me why I was having difficulty walking. When my daughter asked my husband why I kept falling I agreed to go see a neurologist in Boston. I then had my 1st set of AFOs and night splints at 35. I used a rollator and then a single forearm crutch. When I would sit for the evening or stop when working in the yard, my legs would dance. The doctor told me like a light bulb that burns brighter before it goes out, my nerves were also reacting before going out. Spasticity was excruciating. I saw a physical therapist who talked with my doctor and after beginning Baclofen it was relieved to almost tolerable levels. I began to have urinary incontinence. I could hold it but as soon as I closed the bathroom door my body decided that was close enough. That has gotten worse as the years have gone by and I have been wearing pads for 30 years. Unfortunately with loss of control and feeling in that area I also have lost any feeling while having sex. It decreased over time until it disappeared completely. My legs from the knees down feel like they are 200 pounds They are frozen as are my hands. I have been diagnosed with Raynaud Syndrome. My hands and arms became involved in my early 50s. I could not form letters and being a teacher's aide my symptoms were affecting my ability to work. I began to have head and voice tremors a few years later.As more symptoms are added one I have struggled with all my life has become forefront with the physical pain. Depression is worse because I am no longer able to work so I am home alone, in pain and and unable to do what I used to or be independent, the person I was
1) In just a few simple words, what does being a “carrier” mean to you?
Being a carrier of ALD to me means I am not just carrying something, I distributed it, in addition have a disease myself.
2) What is something you wish more people knew about carriers of your disease?
I wish more people knew that females with ALD can have disease symptoms themselves as well as in some instances suffer the guilt of passing the disease on.
3) Have you been involved in any research efforts for carriers?
I have been involved with research for females with ALD. When I was 49 I participated in the Lorenzos Oil and diet study at Kennedy Kreiger. I lost a scary amount of weight and went into instant menopause. The study was canceled for reasons I was never told.
I participated in walking, and balance studies at Dr. Eichler's but did so poorly that only one observation was done. I also have been videotaped writing and speaking at Dr. Eichler's office as well as having blood taken. I would do anything I was asked to to help future generations.
4) What challenges do you think our future will hold as carriers and what do you hope for the future of carriers?
I believe the challenges we have as ALD women will be to continue to educate all involved and broaden that education down to every primary physician so no woman will be brushed off or misdiagnosed. Just as we try to educate to help save our boys, it is imperative women are diagnosed correctly in order that they will know what that means for themselves as well as any children she may have or plan to have. It also could lead to family members being diagnosed and saved.
My hope for the future is, and I understand different views on this, that females will no longer be referred to as carriers and that ALD women will have a name for the disease whether it is presenting in them or not. If the gene is there, the disease is. I hope that ALD females will have a name and that the description begins with females and then continues to describe the symptoms females have.
5) If you could go back to before you knew you were a carrier, before it all began, what would you tell yourself?
Honestly, there is nothing I can think of that I would tell myself if I could have. At the time our family was diagnosed I often reminded myself of the essay, "Welcome to Holland". I suppose that may be what I would have had myself read prior to the ALD diagnosis.
6) When you think of Remember The Girls and the future for women carriers of X-linked disorders, what is the first word that comes to mind?