Posts Tagged ‘Critical Care’


Imagine finding out one month after your newborn son had major surgery that his heart defect is the least of his health concerns-this was the case for the Fain family. Their son Maeson just finished heart surgery and things were looking up. Then they received the news no parent wants to hear: Maeson was diagnosed with CHARGE syndrome, a rare set of life-threatening birth defects.

“There were all of these tests they ran on me through amniocentesis and that’s when they found Maeson’s heart defect. I thought it couldn’t get any worse than that,” with tears in her eyes, Rhonda Fain explained the day she received baby Maeson’s diagnosis. “What we found out was a whole lot worse.”

CHARGE syndrome is not a disease but a recognizable pattern of birth defects. When first identified, the cluster of symptoms was created into an acronym used to identify it, C.H.A.R.G.E:

C– Coloboma of the eye (Coloboma is like a cleft in the eye which causes vision loss.)
H– Heart defects
A– Atresia of the choanae (Choanae are the passages that go from the back of the nose to the throat. These can be narrow or blocked.)
R– Restriction of growth and development
G– Genital and/or urinary abnormalities
E– Ear abnormalies and deafness

Although these features are no longer used to make the diagnosis of CHARGE syndrome, the name remains the same. Babies born with this set of birth defects usually have life-threatening heart and breathing difficulties and vision, hearing and balance defects that delay development.

This explained the heart defect baby Maeson was diagnosed with in the womb, but Mitch and Rhonda Fain were left with more questions than answers after they spoke with their doctor that day.

“It’s been horrible. There are all kinds of complications. He could be deaf, he could be blind, he could be mentally retarded,” Mitch Fain said. “We could be doing this for months and months and months.”

CHARGE syndrome affects one in every 9-10,000 births worldwide, according to the CHARGE syndrome foundation. The entire cause of CHARGE syndrome isn’t known, but it is a genetic condition where at least one gene mutation is involved. Genetic mutations lead to a very complex group of symptoms. Patients with CHARGE syndrome have varying degrees of severity of all the possible symptoms. Therefore, the diagnosis of CHARGE syndrome is complex and treatments vary for each child. There are no easy answers, something Mitch and Rhonda have had to accept.

The heart defect was a physical defect that you could take care of. These issues with the CHARGE are a whole new ball-game” Mitch said.

There is hope for children diagnosed with CHARGE syndrome. Research shows early intervention with multiple types of therapies (such as occupational, physical and speech) can make a huge difference in whether or not they reach their potential.


When you are suffering from an adverse health condition, especially a severe illness or disorder, you should seek immediate medical attention. However, even when you do that, doctors’ negligence can result in delayed treatment. During this time you can become even sicker and perhaps past the ability to even respond to treatment.

On the other hand, there is a thin line between waiting for a second opinion and delayed treatment. In some cases, if you are misdiagnosed, the treatment that you receive for your supposed condition can be dangerous no matter if you receive it immediately or if it is delayed. Thus, when you are diagnosed with a serious health condition, you should always consider taking the time to get a second opinion rather than push forward to get treatment as soon as possible.

Once you are sure of your diagnosis, though, you should receive the proper treatment immediately. Doctors undergo years of education and training so that they can correctly identify disorders and prescribe the proper care. This is important because some powerful treatments, like chemotherapy or strong antibiotics, can weaken your body even as they attack the source of your problem.

Thus, you can suffer from delayed treatment if a doctor fails to recognize your disorder. Additionally, if a medical facility refuses to take you, it can cost you time in getting the treatment you need. Lastly, if you go to the emergency room for treatment, the nurses must correctly triage your injuries and determine if you actually need emergency treatment or not. In cases like this, if you are sent to the wrong unit, it can also take more time before you are treated.

Delay in treatment may not be too dangerous in the case of something like a mild cough or cold. Often, these are caused by viruses that can’t be treated with medication. However, with more serious issues such as strokes and brain trauma, the few hours of delay in getting treatment can result in permanent health issues. For instance, if you hit your head and the doctor diagnoses brain trauma, he should monitor the swelling inside and perhaps administer medications or even perform surgery to keep the blood from pooling up inside your skull. The problem with pooled blood is that it puts pressure on your brain. Prolonged pressure can kill off areas of brain tissue, resulting in lifelong brain damage.

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