my family - info needed - Discussion - United Leukodystrophy Foundation Support Community

Can someone please set us straight?

I asked my sister to have her VLCFA's tested. Her son passed away from ALD in 2000. My dad passed away with AMN in his early 50's,

I have been told that I have AMN based on VLCFA test. My VLCFA's are high and I am displaying symptoms. I currently use forearm crutches and a wheelchair to get around.

Her doctor told her that she did not need to have her VLCFA's tested because AMN does not come from the ALD gene. He told her he knew all about it and that the chance of my having symptoms of AMN were very doubtful as a carrier because I have another good chromosone so there is now way to get ALD or AMN as a female. He also told her that boys that carry the gene do not get AMN later on in life.

I believe that her doctor does not have enough knowledge of this disease based on what he/she told my sister. I just want my sister to get the true facts. She does not believe that females get symptoms. She believes that it is her psyatic nerve that is causing her problems and that there is now way she or I could have AMN.

My sister has toes on her feet that go numb and her feet sometimes get ice cold. She has problems with constipation and back problems. This is why I wanted her to be tested. Also, I started out with those symptoms. Her doctor told her that she did not need to be tested and to go to see a chiropractor. He said that her L4 and L5 are probably misaligned. She believed him and was not tested.

We are writing this together in hope that someone can answer this once and for all.

Please help my family see the light so that we do not have to keep going through this.

By KateNDalton
Posted October 10, 2008 at 9:05 am

Oh my goodness! Definitely go to another doctor. Contact Kim at Kennedy Krieger. You can have your blood work done from whereever you are located and she can get the results to you and give you all the information you need. Her email is Hollandsworth@kennedykrieger.org. She is very helpful and very informative. I am 27 and asymptomatic (supposedly) but have trouble with circulation problems, memory problems, incontinence, tripping, depression, etc. My doctor put me on Lovastatin right away and a low fat diet. There is a doctor in the Netherlands, Marc Engedon. His email is m.engelen@amc.uva.nl. He is doing a study on carriers and Lovastatin and should have the final results within the next year. He is going to inform me of any new information as to being a carrier and any new treatments. You may want to contact him as well and let him know that you would like any new information. Dr. Singh at MUSC has done much research regarding the use of statin drugs on carriers of ALD or carriers with AMN. His address is singhi@musc.edu. I cannot tell you how important it is to get treatment and not ignore the symptoms. Even if you are asymptomatic it is important to know what's going on. I'm very glad that you came to this website. Welcome! I hope I didn't just overwhelm you with too much info. Please feel free to contact me if you ever want to talk Kateness411@hotmail.com.

By britt_carrier
Posted October 10, 2008 at 9:31 am

Kate -

Thank you for your reply. I have already been tested and have been in touch with Kim earlier in the year. However, my sister refuses to believe that we could have symptoms or AMN. I just need someone to explain to her as a carrier or of someone with AMN that it is possible. She refuses to believe it and will not get tested based on what the doctor told her. She also thinks that I am not symptomatic despite having to use a wheelchair and forearm crutches. She says that lot's of people who do not have ALD gene have neuropathy and that it must be something else because her doctor told her it cannot be. He also told her that I should quit smoking because that is what is causing it for me. I have never met him so I'm not sure how he could tell her this. I have had emg's, bloodwork, mri's, etc... from my doctor. I just wanted her to get tested to see if her VLCFA's were high and that was what was causing her problems.

By coco1252
Posted October 11, 2008 at 7:54 am

I agree. You need to talk to Kim Hollandsworth at Kennedy Krieger. She is a great person to talk to and can give you plenty of information. There is a study going on right now at Kennedy Krieger Institute that has to deal with AMN/carriers of ALD with symptoms. Pleas contact kim. Mt email is coco1252@aol.com if you have any other questions

By jolocny
Posted October 11, 2008 at 9:26 am

Yet another doctor that doesn't know what they're talking about!! I'm 49, I have 2 diagnoses: a symptomatic carrier of ALD; AMN. I started having symptoms in my early 30's and now use forearm crutches and a wheelchair. I deal with all of the symptoms that have been mentioned here. I saw many docs that were all quite uninformed about ALD/AMN. One that was so mad that I wasted his time ~ as there was really nothing wrong with me! My VLCFAs results were 3x the normal range! Thank God I was referred to Strong Hospital in Rochester, NY. They did the original diagnosis, they sent me immediately to Johns Hopkins (Kim is an angel from heaven! ... all the staff, medical and laypeople, are for that matter). I have been a member of the study for 3 1/2 years.

Please, please, please ... britt_carrier's sister, please get to another doctor! This one just doesn't know!! I'd like to add another reference source - the ULF. They can give referrals on doctors, per their speciality in the leukodystrophies.

My most uncomfortable symptoms now are with my feet ~ the cold goes right to the bones! Yes, this could also be a symptom associated with other troubles but with the family history ... It's been very hard for my family to accept my diagnosis, easier to ignore it. I'm one of the rare situations in that none of my family members have it. With your family history, please have everyone checked.

Another avenue would be to sit with a geneticist (sp) - they can give you a lot of info, too.

Sorry to go on and on ... having dealt with so many uninformed doctors took a huge toll on me and my loved ones ~ please seek more information, please believe what is in front of your eyes! Doctors can only help you if you help them do it, they're human and can't possibly know about every disease.... if they're really intelligent they'll admit that.

We learned at the ULF conference this year that men may not show symptoms of AMN until they are in their later years! This pushed me to re-address the problem with my son.
Much love and blessings to you all! If I can be of any further help, please contact me - joann@twcny.rr.com.
JoAnn
.

By Emcee70
Posted October 11, 2008 at 11:34 am

Genetically, all female daughters of AMN men are carriers, because men only have one X chromosome to pass on to his daughters, and it's men's genetic makeup that determine if the child will be a boy (Y) or girl (X). All of the sons from AMN men will not get the gene (Y). There is a 50-50 chance that any children from a female carrier will inherit the gene, because females have two X chromosomes to pass along, one of which may contain the ALD gene.

The thinking in the past was that female carriers could not get symptoms, of any given disease. AMN has essentially turned that thought on its head, because more and more carriers are coming forward complaining of symptoms. I was told by Kim at KKI to not have my surgery on my back, as it would do nothing for me. I did speak briefly with Dr. Raymond at KKI about botox injections in the back for pain. He told me to talk to my local neurologist about it. But he said that it does work, but it wears off after about 3 months.

Each of us is different, but we share a common disease. We may have different symptoms, but they are of the same cause. I hope this has helped.

By marshallsaunt
Posted October 11, 2008 at 8:58 pm

I also think you need to see another doctor right away. % weeks ago my 6 yr old nephew was diagnosed with ALD. He left just today for Duke University Hospital to strat his testing for a bone marrow transplant. My sister her daughter me and both my girls will be tested soon for the gene that carries ALD. So far everything Ive learned is that males actually get the disease and females are only carriers but can start having symptoms like those mentioned above around the age of 35. I was diagnosed with Rhuematoid arthritis and fibromyalgia 6 yrs ago went through all kinds of treatments and nothing has helped. Now finding all this out about my nephew im beginning to wonder if I havnt been misdiagnosed all these years. I started having symptoms at the age of 35. I will be tested soon to see if I carry the gene. It will sure answer alot of my questions.

By britt_carrier
Posted October 11, 2008 at 10:13 pm

Thank you everyone for replying to our discussion. I sincerely hope that this will show my sister that she should not believe her doctor. Like many others I was misdiagnosed for years. Funny thing is, I was tested in 1999 as a carrier but no one knew that it caused symptoms in females. I had been diagnosed with several other things like many of you and some very very expensive treatments for all of these misdiagnosis. This is probably part of the reason that the family does not think it could be ALD/AMN. I had been diagnosed with so many things and so many treatments that did not work. I was skeptical myself at first. To date there has been no convincing my sister that this could be what is wrong with her too. She has many of the same symptoms that I had and are now much worse. Even though she lost her son to ALD. There may not be any way to convince her until she is at her lowest point unfortunately.

By jolocny
Posted October 12, 2008 at 8:03 am

It makes me sad that there are so many misdiagnosed people out there! I had 8 surgeries for "structural problems" before we got the diagnosis ~ now the surgeons won't touch me! I have to laugh ~ can't cry over the fact that we did things that were 'right' at the time per the information I had. We all move forward ~ that's one thing I really appreciate about this site. After the initial shock/anger/etc. we ALL do our best to get it together and start life over, learning to work with ALD/AMN. There's just no sense in fighting ~ unless the fight is to get ourselves moving and get the word out to everyone we can!
Hoping you all find joy today!

By marshallsaunt
Posted October 12, 2008 at 10:09 am

I agree with you jolocyn about being misdiagnosed. It is sad that theres no more about this disease for people to know. I had not even heard of it until my nephew was diagnosed. After reading about the female carriers and symptoms they were having, it was like a light bulb went off in my head. I thought dang maybe just maybe I have answers now. I have not been tested yet but have an appt. with my dr soon to talk to her about test. Hopefully I will know something soon. It just kinda makes sense that all of the treatments Ive been through arent working because I was misdiagnosed. We do need to get the word out there about this horrible disease. Good luck to all out there battleing this. One word of advice if you dont feel your doctor is doing everything he can to help you find another doctor. To Britt_carrier I think maybe your sister is in denial because of losing her son to this horrible disease. Keep on her to be tested and get the help she needs before her symptoms get worse. You guys are in my thoughts and prayers.
Tammy

By jolocny
Posted October 13, 2008 at 8:44 am

I'm going this morning to see the docs at Strong Hospital, Rochester, NY that diagnosed me - it was a fluke that the chief neuro wanted the test done! They then ruled out everything else to be aware of any possible means of complication - 5 months of testing, and all worth it. I go back now to "check in" and keep them updated on the disease, and so they can help in whatever way possible. As one of the residents said, "so, you just come back to educate us about this?" ... absolutely! It's part of my mission to get this information to as many as possible.
From the information I got at KKI: this disease affects women mostly from the waist down. Some of us have headaches, there seem to be more women I talk to that experience dropping things without any rhyme or reason (this can be a problem one day ... not to occur again for long periods). Dr. Moser alleviated some of my fear by telling that only 1% of women showed problems in the brain from AMN. If that has changed in the last 2 years, I'm not aware. Be careful how you stand up and support yourselves ... I've developed a scoliosis from pushing myself up and leaning to the right as I would go thru the day. I thought this was a screwy thing (all my body) until I talked with some other ladies - we all had some degree of "acquired" scoliosis. I'm trying hard to change my habits and be more balanced when standing, sitting, etc.
How is your sisters diet? If nothing else, I'd like to suggest that a low-fat diet should be followed by all of you. This isn't necessarily a simple solution, but it should become a way of life. Since it's the fats that increase and attack the myelin sheath around the nerves, it becomes important to be careful about this. All my best,
JoAnn

By Charlestonlady
Posted October 16, 2008 at 10:57 am

I'm new to this site but am so excited to be finally in touch with others experiencing the symptoms of women carriers. I'm 53 and have been experiencing symptoms since my late 40's. It's progressed rapidly over the last year though. I was always employed as an exec. assistant, but I am not working now. There's constant pain, throbbing and tingling in both feet, ankles and legs, constriction and feeling of extreme tightness in both legs, poor balance with tendency to veer and run into things, cannot lift feet causing regular trips and falls, extremely slow walking and painful to stand or walk for any length of time, right knee gives away periodically making walking very hazardous, pain and stiffness in lower back and hips,
uncontrollable spasms and nerve jerks in legs.
I tire easily now and have limited driving due to slow reflexes and numbness in feet. I feel things have changed mentally with me with poor and diminishing memory, especially short term, poor word recall and concentration and listening ability (hence my ability to work as an assistant!) I do tend to have my days of depression, extremely emotional and sensitive and I know it's all due to not knowing where this is all leading in the future. Plus just not getting the feeling from doctors that they really know either!
I haven't resorted to any kind of walker or chair yet, even though I know it's down the road. Think it's just my pride getting in the way sometimes. I'm sure I'll get past it as I'm really limiting myself by not getting out and about as I'd like. I usually have my husband along with me grocery shopping etc., as right now he's my safety net.
It's taken 5 neurologists and 4 frustrating years of testing to finally diagnose me as a carrier of ALD. No one in my family (3 brothers and 1 sister) has any symptoms of ALD, parents deceased with no symptoms either. My sister is 69 but doesn't seem to grasp anything I've discussed with her regarding ALD---and I'm concerned as she has a son and a daughter who's married with two children of her own. I have two daughters (25 and 23) who have not been tested as yet. I have just recently been diagnosed so it's all rather new to us. I had never heard of ALD, but I'm learning fast! I'm very interested to learn more about the low fat diet as I, too, have been in contact with Kim Hollandsworth from KKI. She also told me about the study; have considered but financially without working, I'm not in a position to afford it right now. But I might reconsider all that in time.
I'm not able to do too much exercising although I was able to do a lot of swimming in our pool this summer. But now the weather's cooling and we've closed it, I could use others advice on how they keep moving. Recently saw my neurologist who diagnosed me, just basically checked in with him and set up another appt. in February. So I guess it's up to me to keep learning and finding ways to deal with the day-to-day ups and downs. I'm also being sent back for another test as bloodwork with an endocrinologist showed some abnormalties with my adrenal glands.
Best to all---it's been wonderful just to be able to share my story and I look forward to learning more from all of you.

By britt_carrier
Posted October 16, 2008 at 12:58 pm

Charlestonlady -

I am so happy to hear from you. I am 40 and have been through many neurologists through the years. This does run in my family and no one ever put two and two together. My family refuses to accept that I have it. Oh well.
I too deal with all of the things you described with your legs. I finally had to resort to forearm crutches and a wheelchair. I do not go out of my house anymore due to the fact that I do not want anyone to see me like this. I have not driven a car in over a year so there went my indepence. I too lost my job due to the depression and fatigue. It's been hard trying to get the right meds to manage the pain and burning. It's a constant battle. I am so lucky that my husband, daughter and son are so good to me.
If you ever want to talk, you can email me at britt_carrier@hotmail.com

By marshallsaunt
Posted October 17, 2008 at 9:02 am

Hi Charlstonlady,
I am 42 and have a nephew recently diagnosed with ALD He is 6 years old. When I got the news of my nephew it devastated me. He is now at Duke University for a bone marrow transplant. I was diagnosed with Fibromyalgia and rheumatoid arthritisIn 2001. I was 35 at the time. I have been through many treatments to put it in remission but nothing has helped. When I found out about females being carriers it started to make alot of sense to me that I may be a carrier. I have not yet been tested but have an appt. in November. I have many of the same symptoms you are experiencing. Numbness and tingling in my hands and feet, joint pain muscle pain, loss of short term memory, depression and in the last few years stumbling into things and falling. I have twisted my ankles so many times that they are so weak. As I age it seems to be getting worse. I have been reading and researching also and have seen where alot of women are taking lovastatin. I am in the process of filing for disability as I had to quit work also. I understand what your going through and wish the best for you. Like you I had never heard of ALD before my nephew was diagnosed. Ive always thought I had been misdiagnosed and its hard to know that something is wrong with you and no one understands. Ive been told so many times it was in my head and it was depression making feel so ill. Hope this helps as reading all the forums on here have gave me new insight. Good luck.

By Charlestonlady
Posted October 17, 2008 at 10:10 am

Hi Marshallsaunt----
Thanks for your response and my prayers will be with your sweet nephew. It is so devastating to hear of these precious little ones. I certainly share your frustration with doctors. I had been seeing a continuous stream of neurologists for years who seemed to shrug and say "see you in 4 months" and out the door I'd go in tears. Thank God my latest (#5) doctor found this even though he ordered a full load of bloodwork costing close to $8000 (thank goodness insurance covered a major portion...but still). The simple and very inexpensive VLCFA test would of done it (of which I've had two since) but at least I found an answer. I agree we need to get the word out, including when it comes to S.S. Disability. I have filed also but have been denied twice and have now turned it over to a representative for their help. They feel the problem has been that S.S. simply is uninformed of the devastating affects of ALD. I've recently given my representative KKI's name should they need any answers. I have a good friend who's aware of my symptoms who just keeps pushing me to fight and appeal--she's my little cattle prod! Good luck to you on your fight. Is anyone else having problems trying to get disability benefits?
I agree these forums are so helpful---best to all

By britt_carrier
Posted October 17, 2008 at 10:22 am

Hi Charlestonlady -

I showed your post to my husband and daughter last night. They could have sworn that I wrote your post. Your story sounds just like mine. I have been going to neuro's for about 7 years now trying to figure out what is wrong with me. I have had problems since early 20's. Going from doctor to doctor and all the while though I knew I was a carrier and so did the neuro but no one knew it caused these problems.

I have not applied for SSI yet even though I know I have to. The doctors keep telling me to. I am just afraid after all I've been through with doctors that I cannot stand anymore rejection. Also, it means more time out of work for my husband to bring me to all the SSI doctors.

I too would like to know what others experience with SSI are. Please share?

By marshallsaunt
Posted October 17, 2008 at 1:08 pm

Hi Britt_carrier I know what you mean about rejection. I have been rejected 3 times by SS for disability. The reply to me is my age and my problems arent bad enough. Its so frustrating to be told your not sick enough. Ive even had 2 of my doctors write a letter on my behalf but still no help. I guess my next step is getting help from a ss attorny. I agree theres so much not known about the symptoms in female carriers but theres alot of info on the internet that made me realize this may be my problem so you would think if doctors just done a little research as I have they could better know and take this serious instead of making excuses because they dont know. Hope all works out for you and know your not alone. I will pray for you in your journey with this.

By wenALD
Posted October 17, 2008 at 3:24 pm

Wow this disease is a bummer all around. I found out that it affected female carriers 21 years ago, because my sister was suffering so many of these symptoms. At the time, Dr. Moser just said that he didn't want to worry the mothers, who had so much else on their mind. I then started with so many of the same complaints I hear from all of you. My legs felt so heavy and I was always falling. I am taking the following meds that have really helped: Tegretol, Baclofen and Neurontin. It took a long time to come up with the right mixture. It sure helps and I only rarely have that heaviness anymore. I do use a walker usually, and a cane when my husband has one arm.. In the house I bounce off walls. My husband is a dream and does most of the housework.

If we all share what works for us, we can help each other. My son says the hot tub really relieves his jerking legs. He has AMN.

I will keep praying for all of you. And may God bless Marshall as he undergoes the BMT.

By marshallsaunt
Posted October 17, 2008 at 3:42 pm

Thank you so much wenald. Glad to hear you have found something that works I will write those meds down and have my doctor check them out to see if its something that may work for me.

By britt_carrier
Posted October 28, 2008 at 1:36 pm

Hello Marshall's aunt -

If you are not on SS then what are you doing to bring in income? You really do need to fight it. Too bad we all don't live near one another because we could all fight together. I still haven't applied as I still can't handle any more rejection. I am with Charlestonlady as far as leaving the doctors office crying. I no longer cry when I walk out the door. Now I cry when I walk in the door and just start shaking uncontrollably. I just want someone to get the meds straight. I really just want to walk and do things that I used to do without all of the pain involved. Does anyone know if the neuropathy part of it ever goes away. If I could get rid of that then that would be half the battle. Also, the more I use the legs the more they hurt. Is there anything I can do about that? How do all of you just find the strength to get out of bed each day? I am finding it harder and harder as there isn't much to look forward to. I do spend time in prayer each day and I do read a lot but other than that I feel like each day is waiting for someone to come home. Sorry that this sounds so depressing but how do you all find light at the end of the tunnel.
Thanks in advance for the advice as all of you have been more support to me than you know.

Warm wishes to all!!

By marshallsaunt
Posted October 28, 2008 at 3:58 pm

Hi Britt, I am curently not working and we live on my husbands income. We struggle but are getting by. I understand about walking out of dr offices crying. I done it so much and was told to try this new medicine that I got tired of walking in or out crying so I stopped going to my dr. Thats why I cant wait to be tested to see if im a carrier of ald. I just think Ive been misdiagnosed having the rheumatoid arthritis. I got so tired of all the meds either not working or making me so sick that i stopped taking everything. I currently do not take anything except Ibuprofin maybe too much. Now that my husband has changed jobs our insurance is not as good as it was and the co pay for specialists are way too high. I am trying to make it every day I have too. I have an 18 yr old im trying to get through with highschool and have a 7 yr old in 1st grade. Thats what gets me out of bed everyday. There has been so many times I didnt think I could do it but just keep pushing on. As far as SS Im tired of fighting with them also. My husband tells me to file again and this time get a lawyer to help me. Sometimes it just dont seem worth it though. It's a tiring and frustrating process. After I do get tested for the ALD though and if its positive I will try again. Like you I have no idea about meds and problems i may have but hopefully after I get tested and get a final diagnoses I can move on. And your not sounding depressing. I used to feel that way too still do. But we have to tell someone our problems and this is the place to do it.

my family - info needed

33 replies

Add to the discussion

Search

Join

Connect

You