Category: Health Conditions

Prader-Willi syndrome

You might be a lover of Prada products but this is something else…

Prader-Willi syndrome(PSW) is a rare genetic disorder that causes characteristics such as obesity due to an excessive appetite. 

 Signs and Symptoms
  • Newborns are often small and floppy.
  • Male infants may have undescended testicles.
  • Trouble eating as an infant, with poor weight gain
  • Almond-shaped eyes
  • Delayed motor development
  • Narrow bifrontal skull
  • Excessive intake of food due to feeling of permanent hunger 
  • Rapid weight gain  

  • Short stature 
  • Very small hands and feet in comparison to the child’s body.
  • Sex glands produce little or no hormones
  • Slow mental development. 
  • learning difficulties
  • lack of secondary sexual development
  • behavioural problems, such as temper tantrums or stubbornness

Children have an intense craving for food and will do almost anything to get it. This can result in uncontrollable weight gain and morbid obesity.

 Causes
-Prader-Willi syndrome is caused by a gene missing on part of chromosome 15 .Normally, each parents pass down a copy of this chromosome. Most patients with Prader-Willi syndrome are missing the genetic material on part of the father’s chromosome. Others often have 2 copies of the mother’s chromosome 15.
The genetic changes occur randomly.

-Sufferes usually do not have a family history of the condition.
 

Investigation

Genetic testing is available to test children for Prader-Willi syndrome.
As the child grows older, laboratory tests may show signs of morbid obesity, such as:

  • Abnormal glucose tolerance
  • Above normal level of the hormone insulin in the blood
  • Decreased level of oxygen in the blood
  • Failure to respond to luteinizing hormone releasing factor 

    Management

If a child with PWS follows a restricted diet and control their weight, they would be able to enjoy a good quality of life although, its highly unlikely that they lead a fully independent lives.

Heimlich manoeuvre;a procedure for managing a chocking patient, is been taught to parents or guardians of patients because they are at high risk of choking as compulsive eating abnormally expands their stomach.

There is no cure for PWS, so treatment aims to manage the symptoms and associated problems. For parents, this includes dealing with their child’s behavioural problems and excessive eating.

Limiting calories will control the obesity, but the family, neighbors, and school must work together closely because the child will try to get food wherever possible.

Growth hormone is approved by the Food and Drug Administration for the treatment of Prader-Willi syndrome. It can help:

  • Improve physical strength and agility
  • Improve height
  • Increase lean muscle mass and decrease body fat
  • Improve weight distribution
  • Increase stamina
  • Increase bone mineral density

There have been some concerns that taking growth hormone therapy may lead to sleep apnea. A child who takes hormone therapy needs to have annual sleep studies to monitor for sleep apnea.
Low levels of sex hormones may be corrected at puberty with hormone replacement.
 

Complications
  • Type 2 diabetes
  • Right-sided heart failure
  • Bone (orthopedic) problems.

    This is a terrible health condition, at first parents would ensure that their children feed well and then try to restrain them from over eating. Lastly, they do not have a long life expectancy when compared to other children.

? Proteus Syndrome

 I came across the story of a Lady with a rare condition and how she has been able to cope positively with it.

Mandy Sellars.

  Proteus Syndrome is a very rare condition and can present in various forms.

  • It occurs as a result of genetic mutation. The affected cells continue to multiple exceedingly and produce more malformed cells.
  • This condition starts while in utero; when the baby forms during pregnancy and continues throughout lifetime
  • It does not run in families and thereby, cannot be inherited. 

In the case of this Lady, the condition extremely difficult. It was in the year 2006 that Doctors decided to name her condition as Proteus Syndrome after years of varieties of tests including DNA tests.

Her Condition

  • Her legs grew massively. 
  • At a time,  her upper body weighed 38kg while the lower part weighed 95kg. She wears only trousers specially made by her mother and outgrows them in a short duration.
  • Has had deep vein thrombosis; formation of blood clots.
  • Consequently, she was paralyzed for few weeks.
  • Developed Sepsis;Infection of the blood
  • Suffered kidney failure
  • Had MRSA; Methycillin-Resistant Staphylococcus Aureus( a bacterial  infection).
  • Later, her infected left leg was amputated.
  • Unexpectedly, the stump grew out of proportion when compared to her right leg. It’s width went up to 2m i.e same as a size 34.

Her Lifestyle

She is a very cheerful person and enjoys having fun despite her condition. Her parents have been there for her and had given her all the care and support she needed. She said she has always got anything she asked for and only got to knew how about how abnormal she is during her teens.

She has a degree in Graphic Design and Psychology and has studied courses such Sociology, Criminology, Sign Language and Mediation. In addition, She has worked voluntarily in different fields. She lives alone though family and close friends always pop in to know how she is faring.

She has a specially designed wheelchair and a special car. And does cooking, washing and cleaning by herself.
As a very independent and optimistic person , she hopes one day there would be a cure for her condition.

According to her, her condition do not affect her love life as she has previously been in two long-term relationships. She enjoys hanging out with friends and going places.

However, she has always feared she could be bedridden by the time she turns 85 years if her condition worsens.

Hope

Following a  recent DNA test and researches, a drug has been identified which could help her shrink her legs. She has commenced it and within  three months a significant improvement was noticed.

For the first time, X-ray showed the size of her legs were reducing rather than its usually increase.
She had noticed that because her trousers fits her properly and her mother has not made new ones but waited patiently to hear from the health experts. She and her parents were thrilled on hearing the news, just like they were the day they heard a tiny drug could do the job.

Hopefully in the next couple of years there would be a tremendous reduction in her legs.

Rapamycin

This is a drug commonly used to prevent organ and bone marrow transplants rejection.

It is found  to be very useful in Mandy Sellars case as it stops a specific protein that is involved in cell division. Nevertheless, its side effects include lung toxicity and increased risk of cancer.

 Lastly, in some sufferers, this abnormal body enlargement could be seen in the abdomen, around the chest and on the hands. Other signs and symptoms can be present, depending on sites affected. Follow @AyinotuV

Tiny Left Toe.

I came across a leg condition and want to talk about it.

Please for my friends who may not have appetite for reading certain  health issues, I apologise.

A close relative of mine have been having some discomfort on his left tiny toe for years now which seems to be recurrent; as it heals over time and comes back whenever it wills.

Initially, he thought it could be from the kind of shoes he wear and tend to have loads of variety now but none was deemed fit by this tiny toe. It kept disturbing.

How it starts
He simply notices a bit swelling of the foot especially very close to the last toe.
It builds up as each day passes by and so does its pain intensity as it looks as though it is stretching the skin and compressing some nerves as well. And of utmost importance reducing blood supply to the affected area.

In matter of days, it bursts from the region that attaches the tiny toe to the rest of the foot.
Sometimes,  it could be clear fluid and other times it turns out to be purulent- containing pus I mean.

The worst of all, is that it is very painful and pain-killers like paracetamol doesn’t do the job except the likes of Ibuprofen or codradamol.

These phases last and for a while and then gradually subside and appear healed.
Although some home remedies were always of help.
For instance: Applying of hot compress
                    Washing the area properly twice a day
                    Applying antibiotic.

But it does not heal completely in the inside as it re-appears in about a month time or a bit longer.

After so much antibiotics prescriptions by GPs
Many episodes
It was time to hit the hospital.

Interestingly to me, I learnt that at the hospital most doctors did not know about the condition and were kind of seeking each others opinion till an Indian doctor came by and called it ‘AINHUM’.  And it remained Ainhum.

It was time for X-ray and MRI which actually confirmed diagnosis and show the extent of damage done.
Then, Specialists took over.

His case never got this bad anyway.

Treatment
In hospitals, it is mainly by surgery either to link the connecting bone properly or to cut off the tiny toe.

I guess you now know what Ainhum is and looks like. It is on the tiny toe but can never be ignored.
You know what to do for more information. Before I forget, it was a bit hardwork writing this without medical jargons and structure.