Tippy Feet

10th December 2014

I am a 47 year old registered nurse who started having others notice a limp and a funny gait in 1995. As a nurse, I assumed I had injured myself with work. I eventually went to a Dr. who found abnormal neuro findings.I started my adventures with neurology, tests and more tests and more Doctors. As a nurse ,it was very frustrating that I could not get a diagnosis. You did not need to be a rocket scientist to know something was wrong. You just needed to watch me walk As I did not have a diagnosis I referred to my condition as tippy feet which pretty much described my problems for a while. In 2003, I started to have more problems including bowel and bladder troubles. I was still working in home care nursing and heard of a young female neurologist. I made an appointment with Dr. Beth Cohen not knoeing how she might impact my life. The first thing she said is “Why aren’t you on meds for your problems?” I had never been given the option by any of the 40 neurologists I had seen up to this point. She then started me on some meds for my symptoms and referred me to a gastroenterologist for my bowels and to a urologist for my bladder. She also scheduled me for an assortment of tests. In the USA, healthcare is private and your particular insurance can cover a variety of tests or not. I am fortunate to have good health coverage so all the tests were covered. Alas, all were negative!! My Doc asked me how important a diagnosis was to me or if I would be satisfied with treatment of symptoms. I told her I needed a defenitive diagnosis. She ordered a strange lab test called Very long chain fatty acids and it was done incorrectly the first time. She asked me to get it repeated becaude she wanted to eliminate all possible causes. I recieved a call from her office in Feb.2004 asking me to come in and to bring my husband. Finally – an answer!! She later told me she was very nervous to tell me I had a progressive neurological condition with no cure. I only wanted to know that I would not end up ventilator dependent and was thrilled to find out that I would not. As a nurse, you always expect the worst! I was also referred to the Kennedy Kreiger Institute which is a division of Johns Hopkins Hospital in Maryland. They study X-ALD as well as other genetic diseases. I am being followed by Dr Gerald Raymond and am anticipating entering a 3 year study involving men and women with X-ALD who are still ambulatory. I am no longer able to work full time due to fatigue. I work as a consultant for Home Care patients with Wound,Ostomy, and continence issues.


18 hours ago

ALD Life

We are delighted to announce that on the 15th May 2019 ALD Life will become Alex, The Leukodystrophy Charity (Alex TLC), able to support people with all Leukodystrophies, where no other support is available.

We’ll still be providing people with ALD and AMN the high-quality information, support, services and networks they already expect from us, but we want to help people with similar conditions and their families to have access to these too.

We will be sharing more information about the launch in the coming weeks, so stay tuned!

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