The diagnosis for ALD is only a presumptive diagnosis. I spoke with my X tonight and got some more information about what we are dealing with. The Doctor that made this presumptive diagnosis did so based on some new symptoms that Big Girl has been displaying recently. She has had some issues with her eyes not working in unison, and has had some tremors in her hands.
Until a blood test is done it can not be said for sure that she has ALD or any other Peroxisomal disorder. Other possible causes of her symptoms can be a trauma to the brain which is possible given how often she falls and bumps her head, or chos v'shalom yenah machelah. I presume other causes could be one of a variety of cysts that can form in the brain that are NOT malignant. None the less, the broadness of her overall symptoms such as her Retinitis Pigmentosa (also a presumptive diagnosis), mild hearing loss, hand tremors, ADD, learning disability, and her floating eye all point to a possible myelin related disorder.
I need to come up with $165 asap in order that we can have the blood test done. The lab that we are having it done in specialises in this particular test. They do not take health insurance. I have a friend who said he would donate some or all of the amount, and I am going to contact Bikur Cholim to see if they can help as well. At some point we are going to have to have a sedated MRI done as well. My X tells me that there is a large co-pay for an MRI in her plan.
I read in one website tonight that the severe forms of ALD manifest in males. I have to look into this more, as it is the first site that mentioned this. According to them, ALD does not usually result in death in females. (Sigh) If all goes well, she may have asymptomatic ALD. She also may have ALD but have mild or no cerebral issues. In retrospect, I can see allot of the symptoms that Big Girl has in my history. If all goes well, she may have some lasting motor and learning issues, but with the right support she can overcome them and live a very productive life.
Keep her in your prayers.