Health and Disease, Lifestyle, Uncategorized

Treacher Collins Syndrome

treacher

What is Treacher Collins syndrome?

Treacher Collins is a condition that affects the development of bones and other tissues in the face.

 

 

What are the signs and symptoms of Treacher Collins syndrome?

The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most individuals have:

 

underdeveloped facial bones,

particularly the cheek bones, and

A very small jaw and chin (micrognathia).

 

Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant’s airway, causing potentially life-threatening respiratory problems.

 

 

What are the characteristics of Treacher Collins syndrome?

 

People with TCS often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called an eyelid coloboma.

Some individuals have additional eye abnormalities that can lead to vision loss.

It also characterized by absent, small, or unusually formed ears.

Hearing loss occurs in about half of all individuals with the problem; hearing loss is caused by defects of the three small bones in the middle ear, which transmit sound, or by underdevelopment of the ear canal.

People with Treacher Collins usually have normal intelligence.

 

How common is this syndrome?

Treacher Collins affects an estimated 1 in 50,000 people.

 

How do you get Treacher Collins (Causes)?

When Treacher Collins results from mutations in the TCOF1 or POLR1D gene, it is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 60 percent of these cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In the remaining autosomal dominant cases, a person with TCS inherits the altered gene from an affected parent.

 

When TCS is caused by mutations in the POLR1C gene, the condition has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

 

 

What genes are related to this syndrome?

 

Mutations in the TCOF1, POLR1C, or POLR1D gene can cause Treacher Collins. TCOF1 gene mutations are the most common cause of the disorder, accounting for 81 to 93 percent of all cases. POLR1C and POLR1D gene mutations cause an additional 2 percent of cases. In individuals without an identified mutation in one of these genes, the genetic cause of the condition is unknown.

 

The proteins produced from the TCOF1, POLR1C, and POLR1D genes all appear to play important roles in the early development of bones and other tissues of the face. These proteins are involved in the production of a molecule called ribosomal RNA (rRNA), a chemical cousin of DNA. Ribosomal RNA helps assemble protein building blocks (amino acids) into new proteins, which is essential for the normal functioning and survival of cells. Mutations in the TCOF1, POLR1C, or POLR1D gene reduce the production of rRNA. Researchers speculate that a decrease in the amount of rRNA may trigger the self-destruction (apoptosis) of certain cells involved in the development of facial bones and tissues. The abnormal cell death could lead to the specific problems with facial development found in TCS. However, it is unclear why the effects of a reduction in rRNA are limited to facial development.

 

What are the treatment and management guidelines for this syndrome?

There is currently no cure for TCS. Treatment is tailored to the specific needs of each child or adult. Ideally, treatment is managed by a multidisciplinary team of craniofacial specialists.

 

Newborns may need special positioning or tracheostomy to manage the airway. Hearing loss may be treated with bone conduction amplification, speech therapy, and/or educational intervention.

 

In many cases, craniofacial reconstruction is needed. Surgery may be performed to repair cleft palate, to reconstruct the jaw, or to repair other bones in the skull. The specific surgical procedures used and the age when surgery is performed depends on the severity of the abnormalities, overall health and personal preference.

There are some possible treatments that are being investigated. Researchers are looking for ways to inhibit a protein called p53, which helps the body to kill off unwanted cells. In people with TCS, p53 is abnormally activated, leading to the loss of specific cells and ultimately causing features of TCS. It has been proposed that inhibiting the production of p53 (or blocking its activation) may help to treat affected people. However, more research is needed to determine if this type of treatment is effective and safe.

 

Researchers are also studying the use of stems cells found in fat tissue to be used alongside surgery in people with TCS and other craniofacial disorders. Early studies have shown that surgical outcomes may be improved using these stem cells to help stimulate the regrowth of affected areas. However, this therapy is still experimental and controversial.

 

 

What is the prognosis and life expectancy for a person with Treacher Collins syndrome?

Usually, people with TCS grow to become functioning adults with normal intelligence. With proper management, life expectancy is approximatelythe same as in the general population. In some cases, the prognosis depends on the specific symptoms and severity in the affected person. For example, very severe cases of TCS can cause perinatal death because of a compromised airway.

 

What other names do people use for Treacher Collins syndrome?

Other names for TCS include:

 

Franceschetti-Zwahlen-Klein syndrome

Mandibulofacial dysostosis (MFD1)

Treacher Collins-Franceschetti syndrome

zygoauromandibular dysplasia

 

 

If you have any questions or concerns regarding this article, please give us a call and we will help you with this and all your healthcare concerns.

 

Health and Wellness Associates

Archived

Dr J Jaranson

312-972-WELL

 

HealthWellnessAssociates@gmail.com

https://www.facebook.com/hwa.jaranson

 

 

 

 

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Lifestyle, Uncategorized

Top Five Warning Signs That Your Young Adult Might be in Trouble

top-five-warning-signs

Top Five Warning Signs that

Your Child/ Young Adult is in Trouble

 

What causes people to make choices that could destroy their future, and why do they give

in to peer pressure? Could your child be headed down a dangerous path? Heed the

following warning signs:

 #1 warning sign: Isolates from the family.

 

If your once social child/ adult  starts spending an inordinate amount of time away

from home or locked in his or her room, this is a red flag. If your child/young adult  starts withdrawing from you or your spouse, there’s a reason. As a parent, it’s your responsibility to identify what’s behind the change.

 

 

 

 

#2 warning sign: An extreme shift in mood.

 

Is your child/ young adult  garrulous and friendly one moment, then taciturn and angry the

next? Don’t just chalk it up to growing pains.  he or she may be hanging out with the wrong crowd,

or experiencing changes — hormonally, neurologically or socially.

One thing to do is not to let it just go, because they get bigger, they get stronger,

they get more rebellious. It’s never too late.

 

 #3 warning sign: He or she starts abusing drugs or alcohol.

 

Young adults often start experimenting with drugs and/or alcohol unbeknownst to their folks.

If you suspect your child is using drugs, know the signs to look for.

 

 #4 warning sign: Family history of alcoholism and drug abuse.

 

There clearly is a higher incidence with teens if they’ve had this history in their family.

Maybe it’s genetic; maybe it’s not. Maybe it’s just that the modeling is there.

 

 #5 warning sign: Taking risks.

 

Don’t chalk your young adult truancy, vandalism or petty theft up to boys being boys, or kids never grow up. When your family member just seems to throw caution to the wind, not care about consequences — all around bad sign, It indicates a number of things, one of which is that they don’t have the ability to connect their choices with their consequences.

 

Other

warning signs to look out for:

 

Declining grades, using street or drug language, a diminished interest in hobbies and a

lack of appreciation for family values.

 

You can’t be in denial about what’s going on. Don’t kid yourself that these bad

things just happen to other people’s kids. Know what’s going on with your

child. Make sure they understand the consequences of their actions.

Make sure they’re living consistent with the values you hold so important.

 

 

 

Health and Wellness Associates

Archived Article

P Carrothers- PM

 

312-972- WELL  (9355)

 

Uncategorized

5 Ways to Survey Thanksgiving with the family

thanksgivingpic

5 Ways to Survive Your Next Family Gathering

In the Uncle Remus story of the tar baby, Brer Rabbit picks a fight with a lifelike doll made out of tar and turpentine. The tar baby is so gluey that when the rabbit punches it, his fists get hopelessly stuck. He tries to kick his way free, trapping his feet, then finishes off with an infuriated head butt that renders him utterly helpless.

I can’t think of a more fitting metaphor for family life in the 21st century. There’s nothing in the world as sticky as a dysfunctional family. You can put half your life’s savings into therapy—good therapy, effective therapy—and, 15 minutes into a holiday reunion, you still become hopelessly enmeshed in the same old crazy dynamics. Your assertiveness training goes out the window the minute your brother begins his traditional temper tantrum. A mere sigh from your grandmother triggers an attack of codependency so severe you end up giving her your house. For many people, family get-togethers require strategies for staying out of such sticky situations. Before you head over the river and through the woods, give some thought to the following suggestions.

Strategy #1: Give Up Hope

Most of us go home for the holidays thinking (along with comedienne Abby Sher), God, grant me the ability to change the things I cannot accept. Even if we don’t consciously realize it, we want our families to cease and desist from all the things that affect us like fingernails on a chalkboard. We don’t ask much—just socially appropriate behavior, dammit, and minimal reparations for the more damaging incidents in our past. Although come to think of it, things would certainly go better if our relatives would listen openly, communicate honestly, and agree with us on all significant issues. And possibly offer money.

The hope that our families will act perfectly—or even reasonably well—sets us up to whack the tar baby, to be incapacitated by the dysfunctions we’ll almost certainly encounter. Before you meet your relatives this season, take a few moments to sit quietly and acknowledge what you wish they were like. Then prepare to accept them even if they behave as they have always done in the past. At best you may be surprised to find that they actually are changing, that some of your wishes have come true. At worst you’ll feel regrettably detached from your kinfolk as you watch them play out their usual psychoses.

Strategy #2: Set Secure Boundaries

Given that your family members will probably go on being their same old selves, you need to decide how much contact with them you really want. Are there certain relatives you simply can’t tolerate? Are there others you can handle in group settings but not one-on-one? How much time and intimacy with your family is enough? How much is too much?

It’s crucial to answer these questions before, not during, a family gathering. Prior to the event, think through various boundary options until you come up with a scenario that makes you feel comfortable. Would you be more enthusiastic about a get-together if you planned to leave after no more than four hours? Or three? Two? One? Would you breathe easier if you rented a car so that you could get away without relying on relatives for transportation? Would it help to have a friend call you on your cell phone halfway through the evening, providing an excuse for a graceful exit?

Strategy #3: Lose Control

You’re in the middle of a holiday feast, enjoying your favorite pie and eggnog, when your mother leans over and whispers, “Honey, have you tried Weight Watchers?” Those six words may wither your very soul, challenging every ounce of self-acceptance you’ve gleaned from myriad self-help books, support groups, and several enlightened friends. You might feel desperate to make Mom recognize all the hard-won truths you’ve learned about the intrinsic value and beauty of your body. You’ll want to argue, to explain, to get right in there and force your mother to approve of your appearance. You are coming perilously close to whacking the tar baby.

Remember this: Any attempt you make to control other people actually puts you under their control. If you decide you can’t be happy until your mother finally understands you, her dysfunction will rule your life. You could spend the next 20 years trying to please her so much that she’d just have to accept you—and she still might not. Or you could hold her at gunpoint and threaten her into saying the words you want to hear, but you’ll never control her real thoughts and feelings. Never.

The only way you can avoid getting stuck in other people’s craziness is to follow codependency author Melody Beattie’s counterintuitive advice: “Unhook from their systems by refusing to try to control them.” Don’t violate your own code of values and ethics, but don’t waste energy trying to make other people violate theirs. If soul-searching has shown you that your mother’s opinions are wrong for you—as are your grandfather’s bigotry, your sister’s new religion, and your cousin’s alcoholism—hold that truth in your heart, whether or not your family members validate it. Feel what you feel, know what you know, and set your relatives free to do the same.

If you’ve been deeply wounded by your family, you can stop trying to control them by accepting full responsibility for your healing. I’m not suggesting you shoulder all the blame, but rather that you acknowledge that you and only you have the ability to respond to injury by seeking cures instead of furthering pain. Whatever the situation, accepting that you can control only your own thoughts and actions will help you mend more quickly and thoroughly.

Strategy #4: Become a Participant Observer

Some social scientists use a technique called participant observation, meaning that they join groups of people in order to watch and report on whatever those people do. Back when I was training to become a sociologist, I loved participant observation. People I might normally have avoided—criminals, fundamentalists, PTA presidents—became absolutely fascinating when I was participant-observing them. Almost any group activity is interesting when you’re planning to describe it later to someone who’s on your wavelength. Here are some approaches to help you become a participant observer of your own family.

Queen for a Day
This little game is based on the old TV show in which four women competed to see who had the most miserable life. The contestant judged most pathetic got, among other things, a washing machine in which to cleanse her tear-stained clothing. My version goes like this: Prior to a family function, arrange to meet with at least two friends—more, if possible—after the holidays. You’ll each tell the stories of your respective family get-togethers, then vote to see whose experience was most horrendous. That person will then be crowned queen, and the others will buy her lunch.

Comedy Club
In this exercise, you look to your family not for love and understanding but for comedy material. Watch closely. The more atrocious your family’s behavior is, the funnier it can be in the retelling. Watch stand-up comics to see the enormous fun they can have describing appalling marriages, ghastly parenting, or poisonous family secrets. When you’re back among friends, telling your own wild stories, you may find that you no longer suffer from your family’s brand of insanity; you’ve actually started to enjoy it.

Dysfunctional Family Bingo
This is one of my favorite games, though it involves considerable preparation. A few weeks before the holidays, gather with friends and provide each person with a bingo card, like the one on page 93, only blank. Each player fills in her bingo squares with dysfunctional phrases or actions that are likely to surface at her particular family party. For example, if you dread the inevitable “So when are you going to get married?” that question goes in one square of your bingo card. If your brother typically shows up crocked to the gills, put “Al is drunk” in another square, and so on.

Take your finished cards to your respective family gatherings. Whenever you observe something that appears on your bingo card, mark off that square. The first person to get bingo must sneak off to the nearest telephone, call the other players, and announce her victory. If no one has a full bingo, the person who has the largest number of filled-out squares wins the game. The winner shall be determined at the postholiday meeting, where she will be granted the ever gratifying free lunch.

Strategy #5: Debrief

Even if you don’t play any participant observation games, it’s crucial to follow up on family events by debriefing with someone you love. If your brother really “gets” you, call him after a family dinner you’ve both survived. If you don’t trust anyone who shares a shred of your DNA, report to a friend or therapist. Generally speaking, you can schedule a debriefing session for a few weeks after the holidays, when everybody’s schedule is back to normal. However, you should exchange phone calls with your debriefing partners within a day or so of the family encounter, just to reconnect with the outside world and head off any annoying little problems, such as ill-considered suicide.

All of these strategies, from relinquishing hope of transformation to mimicking your relatives in riotous conversations with your friends, are designed to help you love your family unconditionally, in whatever way works best for you. They help you greet the tar baby with genuine affection, then walk away clear and happy. And that, in the end, may be the best holiday present you’ll ever give to the people you cherish most.

 

Please share with family and friends

 

Health and Wellness Associates

Archived

312-972-WELL

 

 

 

Lifestyle

Top Warning Signs Your Child is in Trouble

kidsdrugs

Top Five Warning Signs that Your Child is in Trouble

What causes teenagers to make choices that could destroy their future, and why do they give in to peer pressure? Could your child be headed down a dangerous path? Heed the following warning signs:

#1 Teen warning sign: Isolates from the family. If your once social child starts spending an inordinate amount of time away from home or locked in his or her room, Dr. Phil says this is a red flag. If your teen starts withdrawing from you or your spouse, there’s a reason. As a parent, it’s your responsibility to identify what’s behind the change.

#2 Teen warning sign: An extreme shift in mood. Is your child garrulous and friendly one moment, then taciturn and angry the next? Don’t just chalk it up to growing pains. Dr. Phil says he or she may be hanging out with the wrong crowd, or experiencing changes — hormonally, neurologically or socially.

“One thing to do is not to let it just go,” Dr. Phil warns, “because they get bigger, they get stronger, they get more rebellious. It’s never too late.”

#3 Teen warning sign: He or she starts abusing drugs or alcohol.

Teens often start experimenting with drugs and/or alcohol unbeknownst to their folks. If you suspect your child is using drugs, know the signs to look for.

#4 Teen warning sign: Family history of alcoholism and drug abuse.

“There clearly is a higher incidence with teens if they’ve had this history in their family,” Dr. Phil says. “Maybe it’s genetic; maybe it’s not. Maybe it’s just that the modeling is there.”

#5 Teen warning sign: Taking risks.

Don’t chalk your child’s truancy, vandalism or petty theft up to “teens being teens.”

“When your teen just seems to throw caution to the wind, not care about consequences — all around bad sign,” Dr. Phil warns. “It indicates a number of things, one of which is that they don’t have the ability to connect their choices with their consequences.”

Other warning signs to look out for:

Declining grades, using street or drug language, a diminished interest in hobbies and a lack of appreciation for family values.

“You can’t be in denial about what’s going on. Don’t kid yourself that these bad things just happen to other people’s kids. Know what’s going on with your child. Make sure they understand the consequences of their actions,” Dr. Phil says. “Make sure they’re living consistent with the values you hold so important.”

Health and Wellness Associates

Archived Article Carrothers- PM

312-972- WELL (9355)