The Adrenoleukodystrophy Foundation: Information and Research on ALD, AMN and Addison's Disease

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3yr old boy clinical dx ALD We have a three year old almost 4 that has been clinically dx with ALD. He is adpoted we have had him since his first breath of air, and his 2 yr old brother. Garrett was DX: Autism/ADHD, Bipolar, Epilepsy, Chiari Malformation,Central Apnea, ........ he has every type of Dr. The genetics team at UCD MIND says with the MRI chaning from T2 Hazy whiter matter posteriorly to now 6mo. post surgry from Chiari to bilateral cerebral white matter, and the acyl carnitine panel shows c12-c18 VLACD pattern. Her differential DX is OTC-Gluteric aciduria. Short history He was slow at all milestones, @ 10 months he spoke phrases, seemed very smart, at 17 mobths lost all communication, OCD, cried all day, it was horrible, the Autism dx given 2005 10 days before 2nd b-day. Through the course of regression and tics, blank stares etc lead us to the other DX. He use to run and play all day outside, the slide, monkey bars etc, now he just sits and watches, no energy, no strength in upper extremities and has intermittent ataxia from waist down as if he had a stroke. It all fits ALD< can any one give us info of where to start. He is being tested DNA etc but that is 8u weeks from now for a difinitive DX. Is it common for a clonical DX and then wait....... they also took him off of his Keto diet for epilepsy I guess high fat is bad for the ALD. Please someone respond....I understand the outcome, but I need to know about now not later...since he is symptomatic than there is no hope for Lorenzo oil, any other suggestions to research? Regards, Dan and Charlotte Parents of two adopted boys Bip brothers ages 2&3 Posted By: charlottebae Posted On: Jan 13, 2008 11:22 am
Replies
	Re: 3yr old boy clinical dx ALD hi i want to answer your posting because it is somewhat similar to my sister.her son fell at five and was hospitalized.by time a diagnosis was made he was a different person.he had a bone marrow transplant 15 years ago and is still alive.never the same but we all adore him and are so,so very grateful.i encourage you to contact kennedy kreiger(amoser)and get the testing done asap and start lorenzo's oil.it cannot hurt and may hold off symptoms.find someone knowledgeable to help you immediately.a month lost is very precious time.we watched my nephew spiral down in two weeks time.i pray for you all,be strong and don't give up!you have to be very proactive and take charge yourself!! cjr Posted By: cjr Posted On: Jan 16, 2008 2:31 pm
	Re: 3yr old boy clinical dx ALD Hi,, i lost my son to ALD 26 years ago. At that time,,, Adam was only the 7th case of ALD in Canada,,,They didn't even have a name for his disease for me until a year after he passed. It's been 26 years since he passed,,, but not a day goes by that i don't think of him,,, how much I loved him, and most of all, how I wish I could have held him just one more time. I was in denile when he died,,,, because they couldnt tell me what was wrong with him at the time, i just thought it would get better. i no the pain parents go through,,,,, anyone going through this,,, send me an email,,,, even after all this time,, I still need support,,,,, ALD is not one of the ÏN" diseases right now,,,, lets make the public aware of it!!!!! Posted By: Lorna Posted On: Jan 27, 2008 5:19 pm
	Re: 3yr old boy clinical dx ALD our 8 year old son was diagnosed last year after months of odd behavior (regression, tics, blank stares, ADD). Although he was symptomatic, he had a Stem Cell Transplant a month after he was diagnosed. We had the transplant at Columbia in NYC but have worked with KKI and Dr. Charnas at U of Minn. Jack is not the same child that he was a year ago, but he is happy and comfortable. We can walk and see and hear. We are working with a huge team of theropists to help him regain his ability to speech and prepare him to return to school in the fall. ALD is a horrible disease, but there are some success stories. Please, feel free to get in touch. Jesse jctorrey@mac.com Posted By: jesse Torrey Posted On: Feb 1, 2008 1:35 pm
	Re: 3yr old boy clinical dx ALD Charlotte, i truely hope you can find some answers. I have a four year old son who will be 5 in 1week. He started to complain of leg cramps and pain last october, my husband and I though it was just growing pains. But come late December and early January his complaints were coming more often and he started to limp by the end of january. He has a bleeding disorder, and after his pediatrician did hip and back xray that came back normal, I turned to him. He did some labs that came back suspicious and decided to do a bone marrow biopsy to check for leukemia, which came back normal as well. He became depressed in February and started to have difficutly walking up and down stairs, and he was wanting to eat constantly. In March he started complain of his eyes bothering him, it took 2 1/2 months for me to decide not to follow my pediatricians recommendations that he had middle child syndrome and I took him to see an opthamologist, who found that he had severe lazy eye in his right eye and the glasses an optomistrist gave us was totally wrong. My son's bleeding specialist was quite concerned and spoke with our pediatrician and gave recommendation, that I was never made aware of due to her ignoring my calls for three weeks. My son saw a neurologist 2 weeks ago who scheduled a sleep study, which was horrible, and referred us to a neuromuscular specialist. My son now throw tantrums that set him into horrible screams or he beats his head on the floor or walls. He hardly says "i love You" anymore. We saw a new pediatrician two days ago and he is extremly concerned. He scheduled my son for a brain mri and said he has motor and developmental delay/regression. Since he has been a totally normal boy up till this past winter, they feel he is regressing and that his speech is now being affected, since he talks supper fast and it is a jarbled together. I'm terrified of what this may be and it may not be ALD, but I feel for any mother and father that has had to or is currently going through the constant guessing we go through to find our own answers. I wish you nothing but the best and even though you don't know me your family will be in my prayers. Posted By: babynrs Posted On: Aug 7, 2008 5:32 pm
	Re: 3yr old boy clinical dx ALD if any way possible get in touch with dr charnas or dr orchard or anyone at the BMT clinic at U of Minnesota. we are here now with an 8 yro son, advanced stage ALD, still laughing and playing, some symptoms most of my kids are here too, we are at the ronald house. room 434. jack will be transplanted in a few weeks. we just started today on the IV mucomist. the doctors here are great best in the world on this. if you can get here, do it, as soon as possible kerry mccall, minneapolis Posted By: marinemomkerry Posted On: Sep 18, 2008 7:12 pm