Eric’s Diary VIII: Frozen for life

 

 

At long last, I was on vacation.  I could not wait to let my hair down after such a stressful term.   I started with my video games – from FIFA to Grand Theft Auto (GTA).  Eventually, I was tired of the monotony.

So, I decided to try something different this vacation ; everyday, I had resolved to read about a medical condition.

Through this culture, I have found out about a genetic disorder that I would like to share with you but things are going to be a little different this time – I am going to tell the story in my own way.  Don’t blame me because by now you should know that in as much as I hate following rules, I am also not a fan of monotony.

The story begins…

Frozen for life

This is not a fairy tale.

However the characters in this story are completely fictional but the condition is not.

Marilyn and James couldn’t wait to outdoor their first child.  They named him James.  James was their dream-come-true especially considering the fact that the couple had been trying so hard to get a child for many years.   Despite having malformed toes, James was a lovely baby.

James overcame his first hurdle – the first breath (some people say it’s the toughest action for a baby).   There were other milestones that James was able to reach.  But before James turned 10, his body started behaving strangely.

At first, the doctor thought the condition was either cancer or fibrosis ( thickening or scarring of connective tissue as a result of injury) so a biopsy ( an examination of tissue from a living body in order to diagnose or investigate the presence of a disease) was ordered.   However, this lead to more trouble because more biopsies lead to an increase in the growth of lumps.  James had a decreased range of motion in most areas including his mouth, which limited his speech and eating.

First, his neck began to ossify (excess bones began to develop in his neck), then it moved on to his shoulder, arms and chest area.   The transformation was so rapid.  It was then that the doctor ordered a test that indicated high levels of alkaline phosphatase and bone-specific alkaline phosphatase.

In short, James was diagnosed with FOP (Fibrodysplasia Ossificans Progressiva) or ‘the Stone man’s syndrome’ (in this case ‘the stone boy’).

This is because the disease causes damaged soft tissue to regrow as bone (ossification). It’s like being imprisoned or caged by your own skeleton because it affects the range of movement hence the name ‘Stone man’.

Like I pointed out, this condition is a genetic disorder.  Unfortunately, it has no cure.  Woe betide the doctor who decides to remove the excess bone growth via surgery – he or she would end up aggravating patient’s plight because more bone growth would result.  There is not much to do in such cases.  Even though this disorder is rare, it does not eliminate the fact that it happens.

Eventually, James literally froze because the only part of his body left (his feet) had stiffened up.  I do not need to imagine how it feels to be frozen for life nor do I need to imagine how it would feel like to be imprisoned by my own skeleton in order to know that it is a terrible and very uncomfortable situation.

All over the world, people have different kinds of disorders or diseases that may cause certain limitations. It’s all a matter of probability.

So if you were born with all the necessities for survival, there is no reason why you would be justified for giving up on life because there are many people with disorders who didn’t.

Advertisements

Eric’s Diary VII: The little bubble boy

 

Screenshot_2016-02-28-11-26-12-1

 

Please don’t call me “Mono”. I hate that nickname because everyone calls me that now. “Bad news travels like wild fire” – I guess that saying has never been wrong.
On the brighter side, I went for my medical review today. According to my doctor, I am doing great. But I have something very interesting to share with you today.

This time, it’s not going to be about me.I was at the Out Patient Department (OPD), when my curious-little-self decided to wander around the hospital. I was almost at the isolation unit when I heard a nurse shout : “Hey, little boy! What are you doing here? This is the isolation unit.”

I told her I was just curious. And I asked her a few questions about what I had seen so far.

“Nurse, on my way to the isolation unit, I could see a boy. It was like he was in a glass container.

I could tell from his posture that he was sad. What could be wrong with him?”

She replied : “That’s the bubble boy and you were not supposed to be around here. Let’s get you back to your Mum.”

You should have seen my face! I don’t like being treated like a child but my structure betrays me.

This time I felt like shouting out the fact that I am a teenager and not a small boy. But surprisingly, I didn’t. I guess my therapy is at work after all. I was still in a long queue, waiting to see my doctor when I heard a nurse mention the phrase :“bubble boy”.

I couldn’t help but eavesdrop ; I wanted to know more about him. One of the nurses said that the bubble boy may pop out of his bubble today. She said something about a surgery and an enzyme.

I couldn’t get the full story because just when the gossip was getting to a climax, I was called to see my doctor. However, I intended to get more information because it sounded interesting. I thought my condition was the worst till I heard about this bubble boy.

After evaluating my treatment, I told the doctor that I had some questions about the bubble boy.

When asked how I got to know, I told him that I heard the nurses talking about him.

The doctor mumbled something about the nurses’ behavior being unethical and some other things. But I was really not interested in that. I wanted to know the story about the bubble boy and why everybodycalled him that. Since I had heard almost everything, my doctor had no option than to tellme about the condition just that he withheld the boy’s name (besides this was strictly for educational purposes).

So from my conversation with the doctor, I got to know that the boy I saw had a genetic condition known as SCID (Severe Combined Immunodeficiency).
His body can not fight against any form of disease ; even catching a cold could be fatal. This is because these cells (produced by the bone marrow and thymus gland) that are responsible for this action, are either not present or are defective.

Therefore, he has to be kept in a sterile environment for the rest of his life till a decision is made about his condition. He is called ‘the bubble boy’ because victims of this disease are usually isolated in a sterile environment and are hardly involved in any physical contact lest they get infected.

He said this deficiency is not usually noticed till about six months since the newborn would be carrying it’s mother’s antibodies for the first few weeks after birth. The antibodies that the baby carries are necessary for the fight against any infections.
However, there comes a time where the effect of the mother’s antibodies wean off, and the baby has to acquire its own cells to fight for itself. That’s when the disease is diagnosed because such children present with recurrent infection due to a compromised immune system.There is always light at the end of the tunnel. This means that the bubble boy’s situation is not hopeless after all.

He has two options : either have a bone marrow transplant or go through gene therapy. The former is a more common treatment which requires a donor (preferably a match) and careful screening to prevent acquired diseases after the transplant. His body also needs to accept the transplant because if this does not happen, he may die.

Gene therapy is an alternative to a bone marrow transplant. This involves incorporation of missing genes into a cells that can divide rapidly and then later inserting it into the individual so that the individual’s system is stored back to normalcy.
All this seems quite complex but I wish the bubble boy all the best. I hope that his surgery is successful so that he can get the chance to embrace life and go on vacations without worrying about any bacteria in the air.

Author:

Naa Adzoa Adzeley Boi- Dsane

They call it the Christmas Disease

 

This is a continuation of the series.

December, 2009

Standing in front of a stairway and pondering over what could have ended in a funeral seems creepy.  This time I am home alone with my diary keeping me company.  I would need to rewind so that we can all relive the experience.  Don’t forget – it’s still the season to be jolly.

This time I chose to believe that this Christmas would be a lot different from the rest. Yes, I believe. I believe things  would be better because this time, I am not doing Christmas alone. I am doing this with my best friend, Lisa.

My step mother (Susan) invited one of our neighbours over for a change.  Surprise, I have a step mother.  Sorry I didn’t let you know.

It’s been long.  Not that I kept it a secret but I was so busy that I couldn’t even make time to let you know.

Change is good – it is the only constant thing and the only way to effectively measure progress. At least that is my theory for now.   So, Mrs.Prah (the neighbour) came along with her two children to help make dinner.

It’s good to see everyone happy.  After all, there is no need to use all 43 muscles when you can just use 17 muscles to make you look beautiful.  We (the children) played throughout the time our parents talked in the Living Room.

There is this game called “Jack, where are you?”  It is more like “African-hide-and-seek”.  In this game, one player closes his or her eyes, and the other players go and hide while the one with his or her eyes closed chants – “Jack, where are you?”

The other players respond – “I am here!”  This goes on till the response of the other players fade away.  Then the player whose eyes are closed can now be sure to open them because it is a sign that the others have been sequestered.  And then the search begins.

The neighbour’s children (Nicole and Alan) seemed to be too eager to play the game.  So we made one of them do the searching.  Nicole started first. I literally called her a witch because she found out where everyone was hiding in just five minutes(considering the fact that my house is like a labyrinth).

When it was Lisa’s turn to do the searching,  she almost turned the house upside down by making sure she never missed any nook and cranny even if it meant trying to shift the Christmas tree and having some of our presents roll open before Boxing Day.

When it was my turn to do the searching, it was so easy because I could close my eyes and walk through the hallway without bumping into any wall.  Just that I could not beat Nicole’s five-minute record and it just left me a little disgruntled.

Ordinarily, this could have affected the spirit of the game but thankfully, I had taken my medication so I assured Lisa that everything was under control.

Then, it was Alan’s turn. Alan found everyone but me.  Well, I was hiding in the basement.  Since this was the last player to find, all the others had to join in.  Lisa called this part – ‘Rules, made by the people and for the people’.

So the search was intense because I knew I was giving them a run for their money.  They began to look for me in odd places.  Some looked under cars, in barrels and buckets full of water (Not like I was that small. But the desperation of the game, fanned the determination flame)

The last part of the game took ten whole minutes. The children even went to the living room (where our parents were sitting) and looked under the table for me.

Alan was close to finding me. Just that I found him.

I found him face down on the staircase leading to the basement with a cut on his head.  He told me it was nothing but I insisted on seeing how bad it was.

He told me not to tell his sister.  He said his sister always makes a mountain out of every landslide he has. Remember the phrase – ‘Speak of the Devil?’  Well, his sister (Nicole) found us.

She told me she has always bothered about Alan especially when it has to do with any game that has some degree of boisterousness.  She said we needed to get Alan to the hospital immediately; doing this would require the help of our parents.

Though we did not want to snitch on Alan, we had to do that to save his life.  I decided to stay behind to watch over the house.

I thought Nicole was being too fussy about just a small cut but I was wrong.  The cut was deeper than I thought and so was the situation.I got to know that Alan had Haemophilia B. He lacks a clotting factor known as Factor IX.

He was diagnosed on his 8th day after he bled profusely from circumcision coupled with subsequent evidence of blood in his urine.If his cut was left untreated, he could have bled to death slowly.  Haemophilia B is also known as the Christmas Disease.

Not that it really has anything to do with the season, but it was named after Stephen Christmas who was the first patient to be described with this disease.  Also, the first report of its identification was published in the Christmas edition of the British Medical Journal.

Well, on the brighter side, Alan had a shot of the Christmas factor and was as fit as a fiddle to crossover into the new year.

*

This is a continuation of the series from this author.

CLICK HERE FOR PART 1
CLICK HERE FOR PART 2
CLICK HERE FOR PART 3
CLICK HERE FOR PART 4

The series continues.

#Medicine

Eric’s Diary IV : My Darkest Sunshine

Source: Naa Adzoa Adzeley Boi-Dsane
Date: 15th-october-2015 Time:  7:35:24 am


This is a continuation of the series.

 

February, 2009.

I am still bereaved over death of my friend, Chris.

Though I did not know him much, I think he qualifies to be called a friend.  Not only because we shared our darkest secrets with each other, but even in death he encouraged me to keep moving and be strong though he barely knew me.

I think that’s one of the most touching moments I have ever experienced.  May he rest in peace.

Today I am going to introduce you to a girl – a girl I have never set my eyes on before.

Though I have never had the chance to meet her, I have heard so much about her ever since I moved into the neighborhood.  I apologize for not introducing her from the beginning.

I guess I did not because I did not know how you would handle the news.

Her name is Angel.  She lives with her parents in a very shady part of our neighborhood – about seven houses after mine.

Her parents often chat with Lisa’s mother (Lisa is my best friend). But they always have this look on their faces that keeps me puzzled anytime I see them.

I have discussed this concern with Lisa previously and I think we are both looking through the same lens.  Let me try and describe the look – it’s a look of turmoil, uncertainty with a mixture of hopelessness.

Though they try hard not to let anyone notice through their hearty laughter and bright smiles, we were able to read between the lines and connect the dots.   The bottom line – something just was not going on well for them.

Several mouths had uttered that this couple had a daughter.  I once heard a woman in the market whisper to another that: “They say this couple has a daughter, but this daughter, we have never set eyes on before. I think they have no right to be hiding her.  She must be introduced to the society in order to be socialized and not completely hidden.”

I find it interesting when I hear such sentences. Gossip always starts with what “they” say.  Sometimes I ask myself: “Who are the ‘they’?”

I guess I would just have to resolve that in times like this, gossip has no origin though it  may spread like bush fire.

Nevertheless, as to whether the statement I heard in the market was true or not, I intend to conduct my own investigations before corroborating or disputing this statement.

Things may not always appear the way they seem.

So, in an attempt to find out what was keeping this little girl from experiencing the brightness of each sunny day, I embarked on a journey. The mission was simple – to get close to the parents of this mystery girl and find out what is keeping her indoors.

Allow me to fast-forward a little.  Let’s just say that everything worked as planned.  The parents told the mystery girl about me.

Surprisingly, she agreed to a meet.  But she also delivered a stern warning to me through her parents.  The message was as follows: “I will only agree to meet him on these conditions – I do not want him to bring any gadget along least he tries to take pictures or record our conversation. Also, he must promise to do as I say once he gets into my territory.”

So the date was set.

It was on February 14.  Since it was St. Valentine’s Day, the so-called day of love, I decided to exude this love by buying my mystery girl a bar of chocolate.

Finally, I was very close to getting what I wanted.  I was standing at the doorstep of the mystery girl that everyone had been talking about.

I knocked and a shrill voice beckoned me in.  I did exactly that.  But something strange hit me – there was absolutely no ray of light in the room.  The mystery girl’s silhouette was sitting on a chair with her back turned away from the door.

My usual stubborn-self wanted to turn on the light.  I was trying to resist this urge because I had remembered her stern warnings on doing things I have only been instructed to do once I found myself in her territory.

So I proceeded to ask : “Should I swi–”

I did not even finish the sentence when she sharply interrupted without turning her head toward the origin of the voice : “Don’t dare touch the switch or try and raise the curtains.  Never try that.  Now you can sit.”

That was the coldest introduction I had ever heard.

But I brushed it aside because I wanted to have my questions answered and I had learnt from my father that the best way to get questions answered is by complying especially when the questions are delicate.

I groped in the dark and made out what seemed like a wooden chair.  I sat and waited for the next order from the mystery mistress.

“Why are you here?  Nobody apart from my parents has ever come to this room before.  How did you get to know about me and what do you want from me?”

Cutting edge questions from a relatively young voice of an individual speculated to be ten years old. I found that fascinating.

Well, I explained everything to her and made sure my mission was clear.

She replied sharply : “So you think I am just going to tell you everything just like that so you can end up going back to tell those market people about me? So that they can spice up their gossip with more juicy details? Then, I am very glad to disappoint you. This is clearly mission impossible!”

She ended with sinister laughter.

I tried telling her things about myself so that she would feel comfortable enough to share certain things about herself with me in return.

But this time, it just seemed like Sod’s Law.  Eventually, she asked me to exit her room with immediate effect. And I had no option than to do so.  Notwithstanding, I assured her I would be back.

I told her parents about what had happened and they apologized for their daughter’s behavior. They said that they would be glad if I could make her my friend.

They even facilitated my plan by giving me a list of her likes and dislikes.  They also gave me the warrant to visit her at any time. They said: “Continue visiting Angel. She would eventually get used to you.”

So I paid heed to this advice. The first time, I experienced a lot of resistance from her.  She even refused to respond when I knocked.

But I just left the pear I had bought for her with her parents and politely asked for it to be delivered to her.

Then one day, I knocked and she did not respond as usual.  This time, I decided to mention her name: “Angel”. I even went further to enter the room.

“Invitation or no invitation, this conversation must come on today”, I thought to myself.

She seemed surprised at how I got to know her name.  I answered: “Finding out information is one of my many talents.”

She laughed and said she has never laughed like that in years.  You can imagine how elated I felt. I am going to spare you the little details because if I don’t, this may end up like Euclid’s thousands of pages.

These are the words of Angela: “My name is Angela Rose.  I’m ten. I don’t remember ever stepping out of this room ever since I was born.

“My parents however, told me that I was once taken out of this room when I was about two.  They wanted to take me to a park in order for me to have some fun with the other children in the neighbourhood.

“But I could not even make it to the door of my father’s car when I started screaming. My parents thought that I was just being stubborn and antisocial.  But when big and nasty bumps started appearing on my skin, they realized the gravity of the situation and called for a doctor immediately.

“After several tests and procedures (which were all conducted at home), I was diagnosed with XP.  This meant that I could not see another sunrise again if I wanted to live.  I heard the doctor utter something about this disease being a genetic disorder.  He said that my parents were possibly carriers.

“He also went further to explain that my skin is unable to be repaired by the damage caused by ultraviolet (UV) light from the sun.  What depressed me the most was when I was told that aside those control drugs I had to be taking, people with this kind of condition have a low life expectancy.

“I may not even live to experience my twentieth birthday.  Once again, my name is Angela Rose and I have Xerodermapigmentosum (XP). People with my condition are usually called children of the night because it is forbidden for us to see the sunlight.

“I am a diurnal gone nocturnal.  Though I wish I could see the brightness of each day just like anyone else – the truth is that I can’t because this condition won’t let me.”

She sobbed, loudly.

And I tried to move towards the direction of the sound and embraced her in my arms. I apologized for the pain she felt.   Then I told her that I would like to be her friend if only she allowed me.  She seemed a bit calm.

Then I made her know I was giving her a nickname.  “From now on, I would call you ‘My Sunshine’. It doesn’t matter whether the world sees you as a child of the night.”

She laughed amidst her tears.  That marked the beginning of our great friendship.

This is a continuation of the series from this author.

CLICK HERE TO READ PART 1  
CLICK HERE TO READ PART 2
CLICK HERE TO READ PART 3

The series continues. Naa Adzoa can be reached on naabd61@yahoo.co
m