S: ALD (Adrenoluekodystrophy) Veronica Gruning
FC: (adrenoluekodystophy) | NO MORE BANANAS | ALD
1: ALD was discovered by Siemerling and Creutzfeldt in 1923 | etymology of name adreno- adrenal glands lueko- white myalin dystrophy- impaired growth | 3 types of ALD 1. Classic ALD 2. neonatal ALD 3. adrenomyelo- neuropathy
2: The first case was found in 1981 and it was an Indian boy who contracted ALD
3: Multiple Names Siemerling-Creutzfeldt Disease Addison-Schilder Disease Adrenoluekodystrophy
4: It affects the 28th chromosome | It afflicts all ethnic groups and every 1 in every 20,000 male babies. Also the female carriers either display mild or no symptoms.
6: Early Symptoms | - seizures - wrongfully diagnosed adhd - uncorrectable vision - symptoms last for months
7: - poor speech and writing - clumsiness - difficulty comprehending writing material - aggressive behavior - mood swings | Mid-Symptoms
8: Final symptoms for ALD | - sluggishness - weakness - darkening skin color - weight loss - nausea - diabetes (low sugar) - irregular sodium and potassium levels shock coma death
9: Classic ALD is the most severe, and 35% of all ALD boys suffer from this strand. The symptoms display between the ages of 5-8, no earlier than three and no later than 15 years old. Although, the early years minus the symptoms, the ALD boys develop normally.
10: Treatments: there is no sure way but there are clinical treatments | Bone Marrow Transplant (15%risk of death) | Lorenzo's Oil lowers VLCFA in the blood, but doesn't help symptoms especially for severe cases
11: steroid replacement | More Treatments | umbilical cord blood transplant & acids
12: ALD boys die of complications,
13: within 1- 10 years of symptoms showing.
14: There are many places to help those with ALD, one is United Luekodystrophy Foundation (ULF) and its website is www.ulf.org and...
15: NORD (National Organization of Rare Diseases) which donate to charitable cases.
16: February 28, 2011 is rare diseases day, | Publicity of the Disease
17: and Phil Collins, the artist of the Tarzan soundtrack, created the song 'Lorenzo'
18: Dear Savanna and Judith, I am sorry that I must tell you this way, but you are all carriers of a disease, called ALD. I doubt any of you will remember but you had a brother, Hamnet. Hamnet passed on when he was 8, because I hadn't been tested for ALD and he had a Y chromosome.
19: letter of importance | The reason i think you should know, is so that you will never have to deal with the morose life of having a son with ALD. Watch for warning signs: seizures, mood swings, and uncorrectable vision. This isn't a common or well known disease, but there are people out there, who can support you if you have rough times. The struggle to fight a never ending storm from coming was treacherous, but hail would have been better than the paralyzation loss of speech, and potassium imbalances. You will love your children no matter what, but I thought you should know what you would be getting yourselves into. I love you. Mom.