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Maple Syrup Urine Disease
4
Maple Syrup Urine Disease
At the Doc
The Doctor's Office
Ben Dover and Luana Dover go to the doctors office after they are expecting their newborn within a few weeks time, to see whether their child may inherit some sort of genetic disorder.
The doctor then does genetic testing on both parents.
A week Later.......
Ben and Luana receive the reports that their child will get the Maple Syrup Urine Disease. This Disease is caused by the defect of the enzymes that break down amino acids, which then cause the babies urine to smell like maple syrup. This can also cause vomiting and loss of appetite.
Doctor report
What are the Symptoms and Treatments?
Symptoms and Treatment
Both parents after hearing that their child will get the Maple Syrup Urine disease get upset, and then immediately ask the doctor what are the symptoms that the child may get from it.
The Doctor then tells that the symptoms of this disease maybe that the urine smalls like maple syrup/burnt brown sugar, the child will have a loss of appetite, and may also vomit often.
The Doctor also told them at the moment there is no permanent solution to this, so the child will have to eat a low protein diet of the three amino acids. The parents are even more sad to hear this revelation by the doc.
Statistics and Research
The parents then get curious and then ask the Doctor what are the statistics and who does research. The Doctor then says....
MSUD is a very rare disease among people. 1 in 185k people may get it. People who will marry within the gene pool of this disease are the most likely to get it, since its genetically inherited.
Currently the only research being done on this is by N.I.H. Only thing again to assist a person with it is a low protein diet.
Statistics and Research
How was this inherited
Genetic Counselor's Report
The Doctor told the parents to see a genetic counselor. Both parents went to the genetic counselor a day after the doctor told them their baby will have MSUD.
The genetic counselor informed both parents that they are carriers, and the doctor warned them that they could pass MSUD (Maple Syrup Urine Disease) to their child. They also state that it is a receive condition, which means they have one large R and one small R because both parents are carriers.
Both parents inquire, "Doctor, what are the possibilities of our child contracting this disease?" "If both parents are carriers and if your child is a carrier, your grandchild has a one in four risk of acquiring MSUD," says the doctor.
Diagrams
Life After and costs
Parents
Report
The parents have had to ban dairy products within the house and only eat low protein food so Minnah would not feel left out. This is the only accommodation they can and need to make.
Medical costs could go up and beyond 35k, but because it was not that serious it didn't cost them much.
Mental Health and Life
The family was very upset in the beginning but slowly cam over it, since it did not cost them much as well as the changes were not as difficult.
They did not have to move anywhere because they all provide the same diet and treatment.
Minnah was upset because she could not eat a lot of different types of food. She did not get bullied or treated differently.
Life After
Community Resources
Ben and Luana Dover visited a special local treatment center called MSUD Family Support to take a tour of the facility, and the tour guide explained, "In this town, we take care of a lot of children with various ailments."
When the parents were wandering around to get a feel for the location, the tour guide mentioned that there is another facility called Sanford CoRDS that also assist them.
Special program
Special Programs
The tour guide shows them the MSUD family's special programs, and as they are looking, the tour guide explains what they have, and the tour guide says, "The MSUD family support has a program for kids with all types of ailments," which piques the parents' interest.
Local Business that provides financial support
Local businesses that provides financial support
"The MSUD family support gives opportunities for support and personal contact for persons with MSUD, their families, and professionals," said the tour guide when asked what type of support they provide to the youngsters. Both parents are beginning to appreciate MSUD's family support.
Other support
The tour guide informed them that they have online support, which perplexed the parents, but she responded, "That the MSUD Family Support Group also funds research to improve treatment for those with MSUD and research to cure MSUD in online," to which the parents responded, "That is very interesting," and the tour guide gave them a big smile while continuing to discuss their facility.