Women with X-ALD
July 14th, 2003 |During the late 80′s and early 90′s grant period covering the use of a low fat diet and Lorenzo’s oil, a number of women who were heterozygotes were seen at the Kennedy Krieger Institute. They received an extensive evaluation that included neurological exam, MRI, blood analysis, neuropsychological testing, nerve conduction velocity measurements, physical therapy evaluation, and urological evaluation. In a small follow-up study, a limited number of women underwent some additional testing to evaluate their adrenal status, but no specific deficit was identified.
Since that time there has been informal contact with many of the women on the study as well as with women known previously only “as the mothers of boys with ALD” and it is apparent that there is a high percentage of the ladies that contact us because of problems that are related to their carrier status. The most common complaint seems to be that they are having some difficulty with their legs. This can consist of weakness and a tendency to fall, it can consist of spasms or “Charlie horses” (like severe cramps in the calf muscles), it can consist of tiredness, or numbness, or tingling or a combination of one or more. Some have seen other physicians and have undergone MRI’s of their spine, with few if any changes being seen. Knowing that many of these mothers cared for their sons, lifting and moving youngsters frequently over an extended period of time, it is easy for someone not familiar with the disease to jump to the conclusion that these symptoms are a result of a herniated disc or “back problem”, and so there needs to be careful consideration of cause.
The disease can be progressive in the women and so there may be increasing involvement over the years. Yearly follow-up would be optimum; and who or what should be included in the follow-up would certainly be dependent on the symptoms, the level of interest of the physician, and, unfortunately the financial resources. Medication is often recommended to reduce spasm and pain. Oral drugs which have been used are valium, baclofen, neurotin among others. (Baclofen is finding an increasing role with the men as a medication given by pump as opposed to being taken orally, and we are also beginning to see the use of botox in some selected cases for controlling spasticity). For the sleep disturbing leg jerks at night, clonopin may be the drug of choice.
Although we presently have no way to stop the progression, the involvement of a physical therapist on an intermittent basis is recommended. Using the initial assessment, a good physical therapist should be able to recommend a maintenance program. The program should recognize that since the disease has a metabolic basis, it is important that the exercise stop when “tired” is reached and that the program be on an every-other day basis so that the muscles are allowed to recuperate. Swimming and water therapy (in a heated/warm pool) are excellent, and a hot tub or Jacuzzi can provide temporary relief from spasms. The physical therapist can certainly recommend the use of various kinds of orthopedic equipment, ranging from the new light weight braces (AFOs) to canes, walkers, and/or wheelchairs and scooters. And the physical therapist becomes important in monitoring overall body alignment as all too often the compensation for problems with legs begins to affect hips and back, and problems begin to multiply.
As with the men, there is often a great reluctance from the ladies to “give in” and to acknowledge that they need the help of a cane, or a walker or a wheelchair or motorized vehicle. The ability to move independently affects not only your day to day living but impacts on the rest of your family, your friends and the community. Rather than allow the world to grow constantly smaller, rather than putting someone at risk for falling and breaking a bone, and to become the envy of all, one needs only to take a look at the marvelous variety of motorized scooters on the market today. Walking should be saved for around the house and for short frequent jaunts as tolerated, but then hop on and enjoy an excursion with your family (the kids and grandkids will bug you for a ride or at least to carry their packages), a trip to the mall, or a wild ride down the sidewalk or street to visit with a neighbor. On the basis of a neurodegenerative disease, most insurance plans and medicare can be persuaded to pay with the use of the latest “in” words and phrases.
The walking concerns are frequently joined by problems with incontinence, both bowel and bladder. Knowing that the nerves for both walking and continence exit the spine in the lower back, it comes as no surprise that the symptoms begin to show up simultaneously. Certainly bladder incontinence can be a source of embarrassment if there is leakage or a great sense of urgency. Again we would recommend that your family physician refer you to an urologist who has some experience with spinal cord injuries. It is important to know exactly what your bladder is doing and to make sure that emptying is complete. Otherwise you will be putting yourself at high risk of infection (bladder or kidney) and over time very serious kidney damage. With tests completed, the doctor might recommend a change in your toileting schedule, drugs to help with control, or self-catherization to completely empty the bladder. There are more and more products coming on the market to help you feel confident in public – give one of the medical supply businesses a call or perhaps one of your local pharmacies who specialize in home care equipment.
Changes in bowel control usually takes the form of constipation. One of the first recommendations would be to increase exercise and to increase fluids (and because you were having a bit of difficulty with walking and because you noticed a bit of change in urination, you now realize that you have indeed cut back on both of these things). If this does not work, you start adding in things, moving from gentle to more strength. So you could start with some prune juice, you might use milk of magnesia to move it through, you might need something a bit stronger such as ducolux tablet or perhaps you will need to go to a glycerine suppository, then stepping up to the ducolux suppository, or even an enema. There is a medication, called lactulose, that some find helpful or perhaps there is some other medication that your doctor will recommend. The big secret is that you can train your bowel to perform if you are consistent about what you do and when you do it. Your bowel needs to move regularly – every day is best, two days may be o.k. and three days is the limit and the time is usually first thing in the a.m. or after dinner. It requires some determination, but it can be done and is done with people who are totally paralyzed.
A number of the women insist that when they get sick or when they have surgery that their recovery has been more difficult than others who have experienced the same illness. This led to the ministudy on the female adrenal status. Although testing appeared to be in the normal range, it still can be argued that the ability to maintain “normal” varies and that some women, stressed over a period of days, will be greatly assisted toward recovery with the use of steroids for a prescribed period. Because there is no medical documentation, it has been a matter that individuals have worked out with their private physician. This would certainly be something to bring to your doctors attention if you should be hit with one of the “flu bugs” and find that you are beyond the 24 hours of vomiting and diarrhea. As with the men, dehydration is potentially life threatening and requires medical intervention, so talk it over with your doctor. (And we would certainly recommend that you consider getting a flu shot.)
Although MRI’s and cognitive testing have documented changes in women, the overall impression is one of “within the normal range”. However, these changes, in combination with the other symptoms, have often led to receiving the diagnosis of “multiple sclerosis” when the family ALD/AMN history has not been recognized.
