Could this be AMN? Elevated VLCFA and white matter changes with adrenal insufficiency

[leslieann226]

Hello All. I stumble by accident upon AMN. I tested positive for elevated VLCFA a few years ago and the geneticist didn't think anything of it, but I recently had an MRI with white matter changes in the brain that looked like MS. I also have MS like symptoms and progressive weakness and difficulty walking and pain. I have adrenal insufficiency as well and went into full blown crisis last year and spent 4 days in the ICU.

Is there an amount that the VLCFA must be elevated for diagnosis? I don't really understand what I'm looking at, but three of the specific tests were elevated but not by huge amounts.

If anyone could explain, I would truly appreciate it. No doctor here can explain why I can't walk. I'm a 48 year old female and this weakness started about 6 years ago.

I've had loss of pain for needles and burns but only on my left side for 15 years, trouble swallowing, no gag reflex, horrible pain, when I stand I sort of bounce until I can take a step, I am more emotional lately and have recent worsening incontinence.

Thank you in advance for your time. I'm in Pittsburgh PA

[KazzyALD]

Hi Leslieann, I do think you need to go back to your Dr, and explain your concerns of ALD/AMN. What needs immediate attention, is your adrenal deficiency, as you may need to take hydrocortisone. I'm not sure at what level your VLCFA should be, but what you've described, ALD/AMN does need to be investigated, even if it's to just rule it out. Obviously, being a genetic condition, it's also important for your family to be tested I wish you well x

[leslieann226 in reply to KazzyALD]

Thank you. My adrenals are well controlled now and we've found good control with hydrocortisone (my endo and I). I see him every 12 weeks so he keeps a good eye on me.

[leslieann226 in reply to leslieann226]

I left out the fact that MS has been ruled out with other tests

[jolocny Volunteer]

Hello! My result for VLCFAs showed them to be triple the high normal range. When I tested, the docs tested me for everything under the sun to rule out what they wouldn't have to deal with. I'm in central NY, one of my doctors is at Strong Medical in Rochester, I also see a barrage of docs at Kennedy Krieger institute at Johns Hopkins in Baltimore, MD. If you're interested, I can give you a phone number at KKI to contact. They have clinics on Tuesdays where you can see all sorts of doctors in one days time that will deal with all problems we may have. Incontinence is one of my biggest concerns, too.

I'd also like to suggest that you get acquainted with the United Leukodystrophy Foundation (ulf.org) as they help a lot of us to find doctors that truly know the disease. They also have a yearly conference that will bring in medical staff from all over the world that interact with us to help us know what the latest news on ALD/AMN research. What's great about that is that we can ask all the questions we want of these docs!

I hope that you can find real help with your symptoms! This isn't fun to deal with on your own. I'm glad you found this site as you can get answers from people dealing with it, too.

[dryder in reply to jolocny]

Agreed! She also has the option to go to Mass General in Boston where both my son & I go for treatment for AMN. I have also seen the urologist there and what a difference it has made for me with meds for bladder issues.

[leslieann226 in reply to dryder]

Thank you all so much. The oncology genetic counselor said they couldn't do that kind of testing so I am in touch with Kennedy Kreiger.

For those that go there out of state, we're the copays huge for the ABCD1 gene test?

I have a Medicare advantage plan PPO and they'vesent me the checklist of everything they need for insurance out of state.

I have to sign the medicare waiver form and I'm hoping to be prepared for how much this is going to cost.

I know it's absolutely necessary so I will Def get the gene test done, but any info about copay experience would be appreciated.

[dryder in reply to leslieann226]

My son goes to Mass General with this insurance no problem

[leslieann226]

Thank you for your reply and the warm welcome Jolocny. My results weren't as high as yours, but they are from 2 years ago so I am guessing they will be repeated.

Believe it or not I am seeing genetics for a rare cancer on tuesday, so I will certainly talk to her. We've already talked on the phone and I sent her my brain MRI report.

I will let you know what we find.

I'm still hoping to hear from other so I have more information going into the appointment. What I know for sure when dealing with a rare illness is that I learn the most from people who are living with it.

Again, many thanks. It has been so difficult to progress like this. I cook and do dishes in a chair and I can not take care of my home. Taking a shower completely wipes me out. I used to be so strong and independent. I just want an answer and if there is anything I can do to make this better, I want to do it right away.

Many thanks,

Leslie

[julie_]

Hi leslieann, I'm going to be 52 in October. My brother and I were diagnosed in 2011, so about 5 years ago. I'm in NYC and was/am active and independent. However, I began having difficulties walking and losing my balance and leg strength - began to have the same symptoms my was brother was having for many years prior to our diagnosis. After the VLCFA determination, I knew that I was still independent and did not want to just wait for answers. If you read everyone's stories here, there is no one answer for everyone. I began physio with a therapist treating MS patients. He does not know about ALD/AMN but after some research, he knew my symptoms were similar and could help me. He gave me the understanding I needed to take care of my particular problems and the exercises and stretches that would help. That was 4 years ago and I'm better for it. I continue these exercises and stretches daily and my usual workout routine. I modify as I see fit and I still consult my physio. My condition has progressed certainly, but not by very much. I take baclofen and 4-AP. I'm still looking for ways to make improvements in my life.

I hope you can also find your way.

[wilburlois15]

Hi. I am a 39 year old male and have had peripheral neuropathy symptoms for the past 10-15 years. My VLCFAs are elevated, as are those for everyone who has AMN/ALD. My consultant said that elevated VLCFAs were sufficient in themselves for a diagnosis of AMN, although I have subsequently had a genetic test which has confirmed the defect in my ABCD1 gene.

Good luck.

[leslieann226]

Thank you everyone. I am seeing genetics here in Pittsburgh this morning. I am pretty shaken to think about this. Happy to have found you all.

[Kake2]

How did you make out did you get results? A diagnosis? I am facing something similar