Twin-Twin Transfusion Syndrome

27 11 2010


Being an identical twin myself, when I came across this rare disorder, I was obviously very interested!

Twin-Twin Transfusion Syndrome (TTTS)  is a rare disorder affecting the placenta in identical twin pregnancies. It affects only those twins who share a monochorionic placenta, meaning twinning four or more days after conception. The complication in the placenta results from a shared placenta containing blood vessels, which connect the umbilical chords and circulation of the twins. As a result, blood begins to flow unevenly with one fetal twin receiving too much blood (recipient) and one receiving too little (donor). The recipient twin may experience heart failure due to a continual strain on the heart. The donor twin may experience anemia, insufficient nutrition, and oxygen due to its inadequate blood supply.

This blood imbalance may occur at any time during pregnancy or during birth.

The Twin to Twin Transfusion Syndrome Foundation gives a list of questions you should ask about your twin babies when getting an ultrasound:

1.Is the placenta monochorionic?

2. Are the babies the same sex?

3. Can you see the dividing membrane?

4. Is the placenta anterior or posterior?

5. Do the cords have 3 vessels or 2?

6. Are the cords fully attached to the placenta?

These questions are vital to receiving care for the twins. Treatment centers are available. One treatment is to use laser treatment on the placenta. The first intrauterine laser surgery was performed in 1988 by Dr. Julian E. De Lia. Other doctors have since been offering this surgery.

As an identical twin, I wonder if my parents knew about these questions they should have asked during pregnancy. What about all those parents who do not even know about complications of identical twins? Me and my twin sister had many complications at birth. Luckily, they were not from TTTS but they were complications nonetheless. I hope treatments and prevention for TTTS will be furthered because the thought of my twin sister having medical complications from birth is devastating.

*Me and my identical twin sister

HIV: Symptom Free?

12 11 2010

According to an International HIV Controllers Study, 1 in 300 people infected with HIV may  not carry the symptoms. The findings show that the reason a minority of those infected do not show symptoms may be because they have an immune system that naturally suppresses the virus’s replication. As a result, they carry low levels of the virus.

According to Dr. Florence Pereyra in a CNN article, the study co-author, “Imagine that there’s a factory worker who grabs a piece of the virus, shows it out the window and says, “Hey, there’s this virus in here.” That’s the cue for the immune system to come in and attack. The hand of the factory worker represents the HLA molecule in this analogy.”

What does this mean?

Currently, there is no vaccine for HIV. Treatment is available to prolong life, but it is not a cure and it is rigorous. This study suggests that the immune system can be manipulated to make infected individuals control HIV better.

How will this research affect the development of HIV vaccines and treatments? What does this mean for the spreading of HIV by individuals who do not know they have the virus because they show no symptoms? How do the two go hand in hand?

Fragile X Syndrome-Most common cause of inherited mental impairment

28 10 2010

Fragile X Syndrome  (FXS) is a genetic disorder. FXS can cause mental impairment that ranges for learning disorders to severe cognitive disabilities. FXS has even been linked as the cause of autism and autistic behaviors.

FXS is caused by a change in a gene at the time of conception. This gene is called FMR1 and is located on the X chromosome, which allows it to be inherited in both males and females because both genders are carriers. Under a microscope, the X chromosome looks broken, or fragile.

FXS can cause certain physical characteristics, such as a long face, flat feet, soft skin, and large ears. However, there are also behavioral, intellectual, and social characteristics. For example, other symptoms include learning and motor delay, impulsivity, hand-flapping or hand-biting, difficulty in sustaining friendships, shyness, anxiety, and difficult picking up social cues.

The National Fragile X Foundation provides information relating to causes of FXS, research, characteristics, interventions, treatments, and life planning. One research update posted through Emory states a new class of drugs developed to help treat FXS. These drugs have the potential to increase learning and cognitive abilities of those with FXS.

Lorenzo Odone- Inspired a Movie

21 10 2010

Who is Lorenzo Odone?


Born on May 29, 1978, Lorenzo was like any other child. But by the time he reached school, he began experiencing symptoms showing a problem with his nervous system. At age six, he was diagnosed with Adrenoleukodystrophy (ALD). ALD is a myelin degenerative disorder resulting in his brain nerves being destroyed. Usually, children die within two years of being diagnosed. His parents, not accepting defeat, began reseaching ALD, despite having no medical background. They found that ALD leaves the body unable to break down big fat molecules . Inspired, they developed an oil made from olive oil and rapeseed, which they named “Lorenzo’s  Oil.” The oil, if taken by diagnosed children who yet to experience symptoms, has been shown to prevent the form of ALD Lorenzo had.

This inspiring story led director George Miller to create the movie “Lorenzo’s Oil” in 1992, starring Susan Sarandon. She was even nominated for Best Actress for her role as Lorenzo’s mother.

Unfortunately, on May 30, 2008, one day after his 30th birthday, Lorenzo passed away. However, he far outlived his prognosis. His story gives other families hope that things CAN be done to fight disorders. tells his story in an articled titled, “Lorenzo Odone.”

The Myelin Project gives an “In Loving Memory” to Lorenzo and the fight her went through for 30 years. He has truely fought a hard fight and inspired millions.

“A Rare Disorder Known as Phenylketonuria”

13 10 2010

Top News journalist Gene Rickman posted an article called, “A Rare Disorder Known as Phenylketonuria.” This article talks about a young girl named Borsi Batki who is suffering from a rare disorder called Phenylketonuria. This disorder does not allow her to digest proteins. As a result, she cannot eat any food that contains proteins, extremely limiting her diet to mainly fruits and vegetables. Furthermore, Borsi has to drink a protein supplement 6 times a day to compensate for her lack of protein in her diet. If this disorder is undetected, it can result in mental retardation and brain damage. It has been found that 1 in 15,000 children suffer from Phenylketonuria. gives a list of strategies that people suffering from Phenylketonuria can follow to live a better and happier life. These include:

1. Be informed

2. Learn from other families

3. Get help with menu planning

4. Try to eat out

5. Find sources of financial aid

6. Don’t focus on food

7. Let your child manage his or her diet as early as possible

8. Make your grocery list and your meals with the whole family in mind

9. Be prepared for potlucks, picnics, and car trips

10. Talk to teachers and other staff in your child’s school

11. Maintain a positive food attitude

Fibrodysplasia ossificans progressiva (FOP)

8 10 2010

With only 700 confirmed cases, Fibrodysplasia ossificans progressiva (FOP) is an extremely rare genetic disorder. FOP causes soft tissue to transform permanently into bone. It is almost as if the body grows a second skeleton. Excess bones are formed around joints, especially in the neck, spine, shoulders, chest, hips, and knees.

The trademark symptom of FOP is a malformation of a newborn’s big toe. As a child gets older, new symptoms such as painful fibrous nodules (tumor-like swellings) begin to appear around the neck, back, and shoulders, usually after a traumatic fall or accident. The nodules begin to transform into bone during a process called heterotopic ossification.

There is no known treatment to FOP. Surgery has been attempted to remove bone, but it has proved unsuccessful. Every time bone is removed, more seem to grow back in its place. However, this progressive disease is currently undergoing research for treatment. The Weldon FOP Research Fund is one of the largest FOP research funding organizations. Read about Whitney and her struggle with FOP and how she is raising money for research.

Current research from the University of Pennsylvania has discovered the gene, or “skeleton key” that causes the gene, when damaged, to turn soft tissues into bone. The article, “Penn Researchers Discover Gene That Creates Second Skeleton” shows just some of the research being done to find a cure for FOP.


30 09 2010

Progeria, or Hutchinson-Gilford Progeria Syndrome, is extremely rare. Currently, there are less than 40 cases reported worldwide. According to the Mayo Clinic, since 1886, only 130 cases have been documented. Progeria is a genetic condition that causes accelerated aging in children. A mutation on the LMNA gene which produces a protein called Lamin A causes nuclei to be unstable which leads to  accelerated aging.

Children with Progeria are born looking healthy. They do not start to shows signs of premature aging until they are about one year old. Most children with Progeria live only to their teenage years, because Progeria, without question, is unfortunately, and devastatingly, fatal.

Research and information for Progeria can be found at Progeria Research Foundation.