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2-year-old son positive blood test

Loribeth82 Message
23 Jan 2015, 06:42 PM

Hi everyone, Very new here. I was just diagnosed with Adrenomyeloneuropathy, after genetic testing was conducted to look for a diagnosis for my symptoms of ataxia, neuropathy and leg weakness that have progressed over the past decade (I'm a 32-year-old female). We immediately took our 2-year-old son to have his VLCFA levels tested, and two days ago received a phone call with preliminary results, letting us know his levels were elevated, indicating he has X-ALD. Everything is still so new and overwhelming, and we don't meet with the geneticist until next week. But I wanted to reach out to you and see if there are any immediate "first steps" you all would take in my shoes, regarding getting my son set on the best track for screening and treatment options. Thanks, in advance, for any suggestions you might have. Loribeth
Angsipe3 Message
24 Jan 2015, 11:50 AM

Hi loribeth, I'm new here too. Been fighting for a diagnosis and still waiting. Wish I had some concrete ideas for you, but at least you should know that you are not alone. My children have gone through incredibly difficult life threatening illnesses so at least I can sympathise with you. Every day brings new challenges but the secret is to find something to appreciate and be grateful for. My stomach blew up over night about a week ago. I look like it did when I was seven months pregnant. Even though it's disturbing to not know the cause, I find myself touching my belly as I did before and being amazed by the beauty of life. Silly I know since there is no baby, but it brings back great memories. Stay positive!!
dryder845 Message
25 Jan 2015, 06:26 PM

Find one of the wonderful specialist that are focusing on this horrible disease. My son is 28 years old and only diagnosed 3 years ago. The symptoms started about 21 but his adrenal glands started failing around 3 years old now that we look back at everything. He started getting very dark skin color and all the doctors just blew it off... I would have the test done for adrenal insufficiency. Talking with others and a good doctor will help.
Loribeth82 Message
26 Jan 2015, 05:36 PM

Thanks for your response. Dryder845, along the lines of finding one of the wonderful specialists focusing on this disease - one thing I've been wondering is if I should be going ahead and trying to get connected to Kennedy Krieger, or if there is expertise elsewhere. I realize I'm likely jumping the gun, here, we haven't yet met with the geneticist at our local hospital - which is a very good research hospital, itself (Oregon Health and Sciences University).
dryder845 Message
26 Jan 2015, 09:11 PM

We spoke with David Cry of to find our specialist. We go to Mass General in Boston. Any specialist for this disease are talking with one another. I don't feel that you are jumping the gun if the test has come back positive. I have a great local doctor who I can call but he always tells me that if there are questions we have to ask the specialist. The researchers at Mass General are starting a website to connect and for us to share with the researchers. You can check it out at They are still building the blog but another place for us to discuss and try to help the doctors figure this out.. Stay strong and positive attitude..
mwskjs Message
27 Jan 2015, 05:04 AM

Hi Loribeth, I am so sorry to hear that your son has been diagnosed with ALD. I can imagine how scared you must be but thankfully your son got an early diagnosis. I would definitely get in touch with one of the ALD specialists as it is extremely important to have your son monitored by the doctors who specialize in this disease - two of those specialists are Dr. Gerald Raymond of Univ. Of MN and Dr. Florian Eichler of Mass General. Your son should be tested for Adrenal Insufficiency if he hasn't already. AI is a very common symptom of ALD but can be life threatening if left untreated. and will offer a lot of information. There is also a webinar that was recently presented by ALD Connect titled "I Just Got Diagnosed, Now What?" Please know that you are not alone in your journey. Keeping your family in my thoughts & prayers.
Aish Message
30 Jan 2015, 04:31 PM

Hi Loribeth. Sorry to hear you've had such a double shock. My husband was only diagnosed after his grandson fell very ill from adrenal insufficiency so they were both diagnosed with ALD/AMN the same week too. We have found Kennedy Krieger to be extremely helpful and the research nurse will often reply to emails the same day so she's good for information and advice. Email They have reviewed MRIs for us when our own hospital didn't have advanced enough equipment and so on. We are in Europe so we can get Lorenzos Oil prescibed by our local doctor. I'm not sure it's so easy to obtain it in the US but KK will advise you. His grandson was diagnosed at 18mths and has been on the oil plus cortisol for AI since then. He's now 7 and apart from the adrenal insuffiency has no other symptoms and is doing great. My husband took the oil for 3 years but eventually stopped because there seemed to be no clinical evidence it works for adults and it was making no difference to his symptoms. Hope this helps.
SusieHite Message
9 Feb 2015, 12:36 PM

Hello I am new to this site but unfortunately very old friends with ALD and AMN. In 1992 when I was 18 I was diagnosed with AMN through Kennedy Krieger Institute in Baltimore. The very next day we found out I was pregnant. At 18 weeks pregnant we found out that I was having a son with ALD through chorionic villus sampling. As soon as my son turned 2 we starting seeing Dr Hugo Moser, now deceased, and Dr Gerald Raymond through Kennedy Krieger at Johns Hopkins. Two amazing doctors. And yes Kim Hollingsworth the research nurse at Kennedy Krieger is absolutely wonderful. She helped me so very much. Unfortunately the diet and Lorenzos Oil did not help Christopher and by the time they recommended bone marrow transplant he was too sick to get one. We lost him in 2001 three weeks after his 8th birthday. However things have changed a lot in 13 1/2 years. They are making amazing strides with transplant. If you go to there are some wonderful medical facilities that can help your son. Just type Adrenoleukodystrophy in search engine. In fact I was on that sight this evening searching for help for my 20 year old daughter. Unfortunately we have had 10 family members on my fathers side of the family diagnosed with AMN and ALD. I hope I have at least been of some help. I am sending positive thoughts and healing power your way. NAMASTE SusieHite
Loribeth82 Message
10 Feb 2015, 04:43 PM

Thanks again, everyone, your responses have been extremely helpful. Dryder845, through ALDConnect I was able to find another specialist to provide a second opinion on our care plan, which was great and reassuring. I feel like we're starting to get a handle on the situation, and more comfortable with our son's care plan. I still just feel like my head is spinning. I'm trying to learn as much as I can so we can make the right decision in regards to getting him started on Lorenzo's oil or not. I feel extremely conflicted.. Feeling grateful to have found this site. I've gathered so much useful information reading through the different discussion board conversations. Beth