utah doctor explains rare disease responsible for larry miller

8/8/2019 Utah Doctor Explains Rare Disease Responsible for Larry Miller

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tah doctor explains rare disease responsible for Larry Miller's deathbruary 24th, 2009 @ 8:24pm

y Ed Yeates

he disease that led to the death of Larry H. Miller is unfamiliar to most people because it is so extremely rare. In fact, in Miller's case, the disas even more unexpected.

espite the severity of Miller's diabetes and the fact doctors had to amputate both his legs below the knees, they really thought he had a chamake it. What caught them off guard was the disease called calciphylaxis, a rare complication that develops inside the blood vessels.

r. Michelle Mueller talking with KSL's Ed Yeates

nly 1 percent of patients in end-stage renal disease develop calciphylaxis. Even within that population, it's after they've been through a lot oalysis.

Mr. Miller was on a very short course of dialysis. It's pretty unusual for as short as his course was to have such a severe problem," said Dr.ichelle Mueller, a vascular surgeon at the University of Utah.

ueller describes the cascading events behind this rare condition that's 60 to 80 percent fatal: End-stage renal disease leads to more dialysiyperparathyroid condition, which triggers high phosphate levels. That then causes the leaching of calcium from bones into the blood streamnce inside blood cells, small arteries literally calcify.

looks like bone. It's calcium deposits that look like bone. So, on patients that have a lot of calcium in their blood vessels, when you take jusain X-ray of it, you can see the outline of the blood vessel wall which, on plain X-ray, you couldn't normally see," Mueller said.

he calcium blocks off the flow of blood, killing skin and soft tissue. Dying tissue progresses rapidly in feet, thighs, buttocks, the breast, and ee tips of the fingers.

Almost in front of your eyes, from one night to the next morning, it looks worse," Mueller said.

obody knows why just a few patients develop calciphylaxis while most don't. "There is some sort of perfect storm that we don't quite know yhat causes that calcium to be deposited into the arteries. It's something that progresses to the point where you just can't live through it," Muaid.

edications that bind excess phosphate or liquefy the calcium are sometimes used successfully in the 20 percent or so of those who do survhe university knows of only one current survivor they've treated. That person lives out of state.

Brittle Bones, Tough Spirit

y Janine Donnelly (Guest Blogger)
http://marbleroad.wordpress.com/2010/02/22/bonesspirit/http://www.ksl.com/emedia/slc/970/97011/9701142.jpghttp://www.ksl.com/emedia/slc/970/97011/9701129.jpghttp://marbleroad.wordpress.com/2010/02/22/bonesspirit/


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had never heard ofRare Disease Day until I received an E-mail about it two weeks ago from the Osteogenesis Imperfecta Foundat

went to Facebook to check it out, and here I am writing a short blog post that I am optimistic people will read. My hope is peopl

at have been impacted by rare or undiagnosed diseases, and perhaps even those who have never heard of them, will see this and

r just a moment to think about how rare diseases touch the lives of so many people. Hopefully, I can give a little insight to how

as touched my life, and maybe bring some awareness and understanding to OI.

y eight year old son, Evan, has Osteogenesis Imperfecta, Type IV, which is a genetic disorder characterized by fragile bones that

asily. It is also known as brittle bone disease. A person is born with this disorder and is affected throughout their life. The num

Americans affected with OI is thought to be 25,000 to 50,000 (some sources even say the number is as low as 6-7 per 100,000 or

6,320 people in the US). I didnt really realize how rare OI is until this year 25,000 to 50,000 seems like a lot of people but it re

isnt.

van was diagnosed when he was one year old and just learning to walk. He had fallen down and broke his elbow the rest as they

history. No one in our family had previously been diagnosed with OI, Evan is the first. Until late last year, we had never met an

mily with OI. A lot of members of the OI community are out there on their own, without any substantial support system at all. I

ery difficult to meet people who really understand what your life is like as the parent a child with OI. Even within the OI commu

is difficult to relate to each other because this disorder is so different for all. You see, there are eight different types of OI, and

ey range in severity from a lethal form to a milder form with few visible symptoms. Sometimes what is severe for some may b

ake-walk for others.

y family has been dealing with Evans breaks for seven years now. He is up to more than 40 breaks now, and while to many that

unds like a lot for some OI children it doesnt even compare. Evan tends to break his lower legs six to seven times per year. He

ds in each lower leg to help with the breaking and a pin from the wrist to the elbow in his right arm to repair a badly broken arm

as his own wheelchair for when his leg is broken and probably spends 75% of each year in it. I am not complaining, however, bec

e can still walk, and we are thankful we have the wheelchair for when he needs it. He breaks his brittle bones so often that we d

ven panic anymore we have a set of questions we run though and we keep an emergency hospital bag in the car ready to go. W

appens in front of other people, they think were crazy.

steogenesis Imperfecta has changed our lives, my whole family, in many ways. Evan has the most amazing spirit and personality.

always upbeat and positive no matter what happens to him. He has been through rodding surgery three times and pinning

rgery twice, and it never slows him down. He just goes with the flow, which makes things a little bit easier on the rest of the

mily. OI has been difficult on his sister, Moira. She is now 10 and has had to deal with Evan getting more attention, both at hom

nd at school, because he is broken so often. She takes wonderful care of him and helps him when he needs it, but she has days
http://www.rarediseaseday.org/http://www.oif.org/http://marbleroad.files.wordpress.com/2010/02/2009_1213festivaloftrees0002.jpghttp://www.rarediseaseday.org/http://www.oif.org/


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hen she thinks it is not fair and expresses it. And she is right on some levels, but how do you explain that so she understands? It

e hard on my husband and me too juggling our schedules so Evan makes all his various medical appointments, making sure our

aughter is taken care of, etc. However, OI through Evan has taught us better understanding and patience. It has shown us the th

at are really important in life are family and spending time with them.

ealing with Osteogenesis Imperfecta can be stressful, but dealing with people who dont understand OI can be even harder than

ealing with OI itself. It is incredibly challenging when your boss doesnt understand why your son breaks his bones so often. It ca

fficult when others dont seem to understand why Evan needs helping going to the bathroom when hes in a wheelchair with two

roken legs in full leg casts. People ask questions such as, Will he outgrow it? or Cant you just give him more calcium? They

ont understand how OI works. Sometimes people just say things that are just not true, like Once he stops growing, hell be fine

now these people are just trying to be nice or trying to understand but its still hard to get over. And some people are just plain

sensitive. A co-worker once told me that hopefully my son would decide to never have children because you wouldnt want to p

at on.

s OI is a rare disorder, there are very few people who do research and offer treatment. The National Institute of Arthritis and

usculoskeletal and Skin Diseases (NIAMS) in the National Institutes of Health (NIH) in Bethesda, MD, offers a special program that

ere lucky enough to find through our doctor here in New Mexico. The treatment and care he receives there is wonderful and the

ing we could have done for him. Evan receives a Pamidronate Infusion every three months and a growth hormone shot daily as p

the study. So every three months Evan and I travel to Bethesda for treatment. Because of this study, Evan has gotten taller, hi

one density has improved and his overall strength has improved. Many people think that because hes part of a medical study wit

H, that the care here in NM inadequate. I want to say that is really not true he receives excellent care here. TheUniversity of

exico Childrens Hospital is one of the best in the country. However, a clinical trial includes a whole range of additional treatme

nd appointments that you would not normally receive because it is a research study. This particular study is looking at the effect

e whole body and is run by a team of doctors in varying fields (Orthopedics, Genetics, Physical Therapy, Cardiology, etc.) by tho

ho are considered experts on Osteogenesis Imperfecta. OI is all they deal with, which gives me and my family more confidence,

omparison to a doctor who may have never seen a patient with OI before because it is so rare. Evans doctors here at home work

osely with the NIH doctors and together they give him the best care possible.

though Evan still breaks his bones a lot and we face many challenges ahead, I really wouldnt change a thing. Evan is who he is

ecause of the challenges he faces. He has amazing hope and faith, which helps me to share that hope and faith.

et's find out some interesting facts about calcium.

act #1: Calcium helps in proper digestion of food. We all know that calcium carbonate tablets are taken to reduccidity in stomach. This is true. Calcium is actively involved in reducing acidity and hence promotes proper digestiond absorption of nutrients found in food material. As a result of this enhanced metabolic activity, calcium has been

ound to assist in weight loss. It helps in the prevention of obesity, high cholesterol and high blood pressure.act #2: Calcium prevents depression in women. Women in their old age are not only at high risk of developingsteoporosis but also depression, hypertension and cardiovascular disease. Recently it has been discovered that calciueficiency might be a cause of pre-menstrual syndrome in women and prolonged state of depression, especially afteriving birth. Pregnant and lactating women are strongly advised to increase their calcium intake for proper developmf the baby and to prevent baby blues later on.

act #3: Calcium is important for blood clotting. Calcium and vitamin K are vital to be present in the blood in ordo form blood clots. The blood of people who are deficient of calcium takes longer to clot and hence there is a dangeoo much blood loss. Calcium supplements and calcium-rich food should be consumed on a regular basis to overcomhis deficiency and live a normal, healthy life.

Milk as one of the common source of calcium, here are some trivia on milk:
http://www.niams.nih.gov/Health_Info/Bone/Osteogenesis_Imperfecta/default.asphttp://www.niams.nih.gov/Health_Info/Bone/Osteogenesis_Imperfecta/default.asphttp://hospitals.unm.edu/hospitals/unmch.shtmlhttp://hospitals.unm.edu/hospitals/unmch.shtmlhttp://www.niams.nih.gov/Health_Info/Bone/Osteogenesis_Imperfecta/default.asphttp://www.niams.nih.gov/Health_Info/Bone/Osteogenesis_Imperfecta/default.asphttp://hospitals.unm.edu/hospitals/unmch.shtmlhttp://hospitals.unm.edu/hospitals/unmch.shtml


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MILK TRIVIA

Wisconsin and California account for more than 1/3 of total U.S. milk production. (2010)

vidence for milk processing dating as far back as the 7th millennium BC has recently been discovered in ceramic jarhe Near East and the Balkans. (2010)

he record milk production for a single cow in a year is 55,660 pounds of milk.

he average annual milk production per dairy cow in the U.S. is over 12,000 pounds.

500 gallons of blood must flow through a cow's udder each day to maintain a production of about 6 gallons of milk

ay. That's 10 tons of blood to produce 50 pounds of milk.

takes about 350 squirts for each gallon of milk from a cow.

gallon of milk weighs 8.59 lbs.

traight from the cow, the temperature of cow's milk is about 97 degrees Fahrenheit.

he name calcium is from the Latin 'calx', meaning:

lime. Limestone, that is.

What rank in weight is calcium in the Earth's crust (compared to other elements)?

5th. It is fifth behind oxygen, silicon, aluminum, and iron. After calcium comes sodium (6th), potassium (7thand magnesium (8th).

What percentage of weight is calcium in the human body?

2. Almost all (98 percent) of our approximately three pounds of calcium is contained in our bones, about 1percent in our teeth, and the rest in the other tissues and the circulation.

What does pure calcium look and feel like?hard and silvery. The metal has a silvery color, is rather hard, and is prepared by electrolysis of the fused chloto which calcium fluoride is added to lower the melting point.

Calcium carbonate is often found in nature in this geologic structure:

stalactites. In caves, with their twin structure stalagmites.


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utah doctor explains rare disease responsible for larry miller

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