Bella
Isabella Lillian Linz
Born April 19, 2006
At Portsmouth Naval Hospital
Bella became very ill her second of
life and was given a diagnosis
of VLCAD by the Virginia State
Newborn Screen
For more information contact:
Carrie & Tom Linz
814-573-1636
Carrielinz@hotmail.com
A muscle biopsy determined Bella
has VLCAD-C the most severe form of VLCAD
Very
Long Chain Acyl-CoA Dehydrogenase Deficiency - VLCAD
VLCAD deficiency is a rare genetic
inherited fatty-acid oxidation disorder that is characterized by
cardiomyopathy, fatty liver, skeletal myopathy, pericardial effusions,
ventricular arrhythmias, and sudden death. The condition prevents the body from
converting certain fats to energy, particularly during periods without food
(fasting). People with this condition have inadequate levels of an enzyme that metabolizes a group of fats
called very long-chain fatty acids. These children are also at risk of serious
complications such as liver abnormalities and life-threatening heart problems.
|
1.
|
Avoid going a long time without
food
Children with VLCAD must eat frequently to maintain their energy level and prevent a metabolic crisis. Bella requires a G-tube to receive calories throughout the night while sleeping. |
|
2.
|
Diet
A low fat, high carbohydrate, high protein diet is recommended. Carbohydrates give the body many types of sugar that can be used as energy. Most food in the diet should be carbohydrates (bread, pasta, fruit, etc.) and protein (lean meat and low-fat dairy foods). |
|
3.
|
MCT oil and L-carnitine
Medium Chain Triglyceride oil (MCT oil) is often used as part of the food plan for people with VLCAD. This special oil has medium chain fatty acids that can be used in small amounts for energy. Some children may be helped by taking L-carnitine. This is a safe and natural substance that helps the body make energy. Bella is currently participating in a FDA trial of Triheptanoin. Triheptanoin is a triglyceride that is composed of three seven-carbon fatty acids. These odd-carbon fatty acids are able to provide anaplerotic substrates for the TCA cycle. |
|
4.
|
Call your doctor at the start of
any illness
Immediate medical assistance should be sought if the following symptoms are observed:
poor appetite low energy vomiting Reddish-brown urine a fever
muscle aches & weakness
Children with VLCAD need to eat
extra starchy food and drink more fluids during any illness - even if they
may not feel hungry - or they could develop hypoglycemia or a metabolic
crisis. When they become sick, children with VLCAD often need to be treated
in the hospital to prevent serious health problems.
|
|
5.
|
Avoid prolonged exercise or
exertion.
Long periods of exercise can also trigger symptoms.
If muscle symptoms happen, prompt
treatment is needed to prevent kidney damage. Children with muscle symptoms
should:
VLCAD Children can commonly
experience episodes of illness called metabolic “crises”, periods when their
bodies become toxic, and break down muscle.
Once started, metabolic crises usually cannot be reversed w/o medical
intervention. Early signs of crises:
Extreme lethargy, Behavior
changes/Irritable moods & poor appetite.
Bella
is prone to Rhabdomyolysis , a condition in which muscle
tissue breaks down rapidly. Breakdown
products of muscle cells are released into the bloodstream; some of these,
such as the protein myoglobin, are harmful to the kidneys and may lead to kidney
failure. Some symptoms may include muscle pains, vomiting and confusion. The mainstay of treatment is generous
quantities of intravenous fluids.
Bella
also struggles with increased CPK. Creatine
phosphokinase (CPK) is an enzyme that can be found in the heart, brain and
skeletal muscle. A high level of CPK is not a good sign and is an indicator
of heart attacks, strokes and other serious diseases. A level above 250 is
considered abnormal. Her highest CPK was over 69,000.
The 2013 has been a difficult year for Bella. She has been in the hospital 8 times
already this year. Bella enjoys being as active as her body allows,
but unfortunately her specialists have had to put her on limited
activity. Although Bella qualified for States in Gymnastics in
early 2013, due to her VLCAD and increased hospital stays, the doctors were
not able to let her compete and have told Bella
as of now she can no longer participate in Gymnastics. Bella is
scheduled to return to Oregon Health and Science University Hospital for more
research testing. Doctors are hoping
to learn valuable information from her to benefit children in the future. After her stay in Oregon, Bella will return to Pittsburgh Children’s
hospital for more testing and an opportunity to participate in another form
of treatment.
|
|
|
|
|
|
|
|
|
|
Additional Research or Information:
www.fodsupport.org
www.gemssforschools.org/conditions/vlcad
www.newbornscreening.info/Parents/fattyaciddisorders/VLCAD
No comments:
Post a Comment