Medical condition of the week – Trisomy 21 (Down’s syndrome)

The actual medical condition of the week for this week is Trisomy 21. Although Trisomy 21 is used interchangeably with Down syndrome, it actually equates for approximately 94% of cases of Down syndrome. Trisomy 21 is the addition of an extra chromosome 21, so babies born with this form of Down syndrome have 47 chromosomes rather than 46. Other forms of Down syndrome include Translocation, where the extra chromosome 21 materials is attached onto another chromosome, accounting for about 4% of cases and mosaic where only some cells in the body have the extra chromosome, found in about 2% of cases. Overall, Down syndrome is one of the most common genetic disorders, affecting approximately 1 in 650-1,000 babies. However, the chance of having a baby with Down syndrome increases with age from about 1:385 when the mother is 35, to 1:30 when the mother is 45. However, it is important to stress that mothers of any age can have a child with the condition.

However, despite the different causes the symptoms of Down syndrome are very similar, and the condition is generally categorised by learning difficulty, and certain facial features. The symptoms of the condition are different for every person with the condition and can range from mild to severe. One of the most frequently noticed features is hypotonia, or reduced muscle tone which can lead to “floppiness”. This is sometimes also twinned with hypermobility in the joints (see previous post on JHS for more info on this!). Due to this hip dislocations and other joint issues such as scoliosis and foot deformities are common. The physical development of children with Down syndrome is often delayed, and most children never reach their adult height and weight.

Individuals with Down syndrome also often have similar facial features, including a flattened nose, small ears and moth and upward slanting eyes. The inner corner of the eyes may be rounded instead of points with white spots on the coloured parts of the eye.

Children with Down syndrome also may have delays in social and cognitive development. These include impulsive behaviour, poor judgement, short attention span and learning difficulties. Some children with the condition are also diagnosed with conditions such as ADHD (attention deficit hyperactivity disorder), ADD (attention deficit disorder) and ASD (Autism spectrum disorder). Seizures also occur in 5-10% of people with Down Syndrome.

There are also other medical conditions which are associated with Down syndrome, these include; congenital heart defects such as atrial septal defect or ventricular septal defect. It is also thought that approximately 90% of people with Down syndrome have some form of hearing loss, and problems with vision such as cataracts and congenital glaucoma are also relatively common. Other conditions such as gastrointestinal disorders, hypothyroidism, sleep apnoea and dementia have also been linked to Down syndrome.

Screening for Down syndrome is normally carried out via an amniocentesis test which involves removing some of the amniotic fluid which the featous is in in the womb in order to sample the fetoal cells in the fluid for genetic analysis. This test however does increase the risk of miscarriage by 0.5-1% and so couples often undergo genetic counselling and the decision to screen for Down syndrome cannot be taken lightly.

There is no specific treatment for Down syndrome also some symptoms can be controlled though medication, occupational therapy and physical therapy, and surgery, for example certain heart defects will require surgery.

Overall, although Down syndrome may bring a range of symptoms and associated conditions most adults with the condition can live independent lives. Raising a child with a disability, although hard work is thoroughly rewarding and there are many support networks for parents, friends and families of children and adults with Down syndrome.

Sources:
http://www.downs-syndrome.org.uk/
http://www.patient.co.uk/doctor/downs-syndrome-trisomy-21
http://www.downs-syndrome.org.uk/images/stories/DSA-resources/health/early_support_down_syndrome_final_2013.pdf (information and support for parents raising children and young adults with Down syndrome)
http://www.patient.co.uk/doctor/prenatal-screening-for-downs-syndrome (information of screening for Down Syndrome)
http://www.thefuturesrosie.com/ (a father’s blog about raising his daughter with Down syndrome)

Does a disability or medical condition mean we have to stand out?

Although attitudes towards disability have greatly improved over the past 20 years or so, I do feel that there is still a lot of prejudice against people with a physical impairment, disability or medical condition even in our society today.

I think mental health conditions are still greatly stigmatised and often individuals with a mental illness are given unfair stereotypes. I have a friend who has been diagnosed with a mental health condition under the banner of bipolar. However, it took him nearly a year to explain how he felt to his parents and to seek medical advice for fear of being judged. Even after his diagnosis he was reluctant to tell people and only told his closest friends for fear of being bullied (mainly as we were still in Secondary school). However, really is there a difference between a mental health condition such as bipolar or a physiological condition such as arthritis?

However, even away from mental health conditions many people can still feel judged for having a medical condition. My sister recently went to a giant corn maze with a group of teenagers with varying disabilities. At the end of the day, although she had greatly enjoyed it, she was annoyed by the fact that “people kept staring”, as “they are normal teenagers, they just have a disability”. I think that for the most part people stare as they do not know how to react. This is mainly true of adults. However, I personally feel a really kind smile to someone who is staring can relax them. As, 9 times out of 10 they are only staring as they feel awkward. I think the only way to really help this is by breaking the taboos and explain the medical conditions to more people to help break down these barriers.

This is what my sister has always done. As a Type 1 diabetic she often has to test her blood glucose levels in public. In places like school she has said it is better to explain to people why she has to prick her finger, in particular if they feel awkward. Although I can appreciate that many people may find this difficult. Often this is due to the social situation, the complexity of the medical condition, or just plain embarrassment. However, what need is there really to be embarrassed about, it is not like admitting to a crime! After all, it is not my sister’s fault that she has diabetes, it is not my friend’s fault that he has a mental health condition, it is just one of those things. For me, I feel that the more people begin to realise this the easier in will become. I will end with the words of Kate Bornstein, “lets stop ‘tolerating’ or ‘accepting’ difference as if we’re so much better for not being different in the first place. Instead lets celebrate difference, because in this world it takes a lot of guts to be different.”

Spending the Summer with young people with disabilities

Last Friday marked the end of the 4 week summer holiday scheme ran by a local charity supporting young people with disabilities. I have been involved with the charity for just over 2 years and love every minute of it! This summer was no exception! I cannot believe this summer’s events have finished.

I always find it such a privilege to work with such remarkable young people and when working in this environment you really do learn something new everyday! However, I would just like to reflect on some of my experiences this year and how they have impacted me.

This year I was given more responsibilities when working with the young people, and was lucky enough to work with some of the young people with more complex medical conditions or more challenging behaviour. One of the more difficult things I have faced this year is dealing with seizures. In the past I was working with a young person with severe epilepsy there would always be someone more experienced with me, however, this year was my first year as the more experienced person! Naturally, I was quiet nervous with this extra responsibility, however, I found after a while I began to find it easier. I spent quiet a bit of time working with a young lady who has very severe epilepsy and, as a result, she has to constantly wear a soft helmet to protect her if she suffers a seizure. When I was working with her she unfortunately suffered a couple of different types of seizure. However, the type I found most challenging was a “drop” seizure, where she would drop to the floor and remain unresponsive for a period of time. At first I found this quiet frightening, however, I soon realised how much more scary it must be for her. It really encouraged me not to panic and just to reassure her that she was ok once she came round, and also to allow her to sleep after a particularly long episode. It also helped me to remain calm and explain to other people what was going on and why I had to record the time etc in her notes and inform a more senior member of staff of the nature of the seizure.

On the other end of the spectrum something else I found particularly challenging was behaviour, particularly when a young person may lash out and hurt you or someone else even when they don’t mean to. When I first began to work with young people with disabilities I found it very difficult to understand why anyone would hurt someone else when they didn’t mean it, however, working with the young people has taught me that often they really can’t help their actions in all cases. For me personally this was illustrated to me by two young people this summer. The first young man became very agitated when I was working with him, this escalated to the extent that he began to “lash out” and target another young person. Although from the offset it would look like he was just being violent, he suffers from an epilepsy disorder, and often “angry thoughts” are caused by seizure activity. The second young man I worked with has an autism spectrum disorder and very limited communication. As a result he can often become frustrated and pull on your hair of hit out towards you. However, all of this is often due to the frustration that you cannot understand him or visa-versa. Although behaviour like this may be challenging and difficult at the time, on reflection you really can’t do anything but forgive the young person as they really can’t help it.

Overall, I feel working the young people with disabilities can be challenging it is one of the most rewarding things anyone can do. I really believe that the young people teach me something new every time I see them. It has also taught me two really important lessons in life; 1. to sometimes stop and look back at what you have achieved and be proud; 2. to be thankful for what you have as there is always someone who is less advantaged than you.

Little Achievements

I have just found this post from my previous blog which I wrote during AS exam season. Although the time frame may no longer be relevant. The content is still very true today.

Over this past week I my life has seemed to consist mainly of revision sleep and eating -a feeling I imagine most 6th form students can relate to. However the drive which keeps you going is your end point, your goal and for me that is medicine!

Yesterday however really reconfirmed everything that I want to do. I started the morning with assisting to teach a group of young swimmers. Some of this swimmers could not swim at all when I first met them a few months ago, but to see how well they have improved never ceases to amaze me. There is one young girl in particular who would not even walk backwards in the water, let alone swim on her back! However yesterday she had the courage to swim backwards with just one float, and where she could only just stand up – if you ask me this is one major achievement!

The other little achievements of the day came from the voluntary work I do. With this kind of work major achievements come in many different forms but I would just like to share a few with you.

There is one young man who uses the service who is partially deaf. When I first met him two years ago he didn’t speak at all and used very limited sign language – however yesterday while playing bowling he was cheering with everyone else and he is now able to hold a conversation.

The other major achievement came when swimming with the young people. Yesterday I was swimming one on one with a lovely young man who I have known for quite a while. He can swim but is much more interested in playing catch and who can blame him! However yesterday between myself and a staff member we persuaded him to swim so as he could then play with the ball. To begin with he was rather tentative and wouldn’t leave go of me once he was out of his depth. However once we were in the deep water he swam beautifully on his back. This was such as major achievement – made all the better as his mum was there to see him!

I suppose seeing the difference you can make to people’s lives makes me all the more determined to become a doctor. I understand that there will be good days and bad days but in the words of a friend who is a GP “what other job can you do where every one in a while what you actually do makes a direct impact on someone’s life”. To me this is what making a difference is all about – celebrating those little achievements and realising that something little to you can make a huge difference to someone else’s life.

Vagus Nerve Simulation Therapy

As previously posted I do regular work with young people with disabilities. During the summer the charity I work for runs all day play sessions. Last week I was privileged enough to spend some time with a really loveable young man who has an epilepsy disorder. As a result of his quiet severe epilepsy he has had Vagus Nerve Simulation therapy, or VNS therapy. I was really amazed by the difference this treatment can make so started to do some research on the therapy itself.

VNS therapy uses a small medical device approximately 6.9mm thick with a diameter of 52mm often referred to as the “pace-maker of the brain”. This device is inserted under the skin in the chest wall and is connected to the left vagus nerve in back of the neck via leads and electrodes. The vagus nerve itself it part of the autonomic nervous system and controls involuntary body actions such as heart rate.

The VNS device is then responsible for sending electrical impulses to the vagus nerve in the hope to prevent the electoral irregularities in the brain which cause seizures in epilepsy. The device is usually programmed to go off at regular intervals which depend on the individual and the severity/regularity of their seizures. The electrical impulses are sent out on average every three to five minutes for approximately 30 seconds each time.

The device can also be stimulated to release extra electrical impulses by running the magnet across the left side of the chest/swiping the device with the magnet. This can be used during an aura (forwarding of a seizure) in order to stop the onset of the seizure. It can also be used during a seizure to potentially stop, shorten or decrease the intensity of the seizure. There have also been speculations that it may also improve the recovery period following the seizure.

Although the VNS therapy itself is not known to have as many side effects as oral epilepsy medications as with any operation there are risks involved. The implantation of the device involves just one cut across the left side of the chest and another on the back of the neck. Although any operation has risks, a VNS operation has significantly lower risks than brain surgery treatment for epilepsy. However, it is still left as a last resort if an individual’s epilepsy is not treatable with oral medication. As with any electrical device the battery on the VNS device will run out and the device will have to be replaced. This would involve another minor operation, and would only have to been completed every 5-10 years.

Due to the nature of VNS it is quiet commonly used on children and young people who have severe epilepsy which is decreasing the quality of their life, which cannot be controlled with oral medications. Seeing first-hand the effect that VNS can have is quite remarkable. As, although the young man I work with still does suffer with seizures they can be quiet well controlled by his magnet – especially before and during simple-partial seizures (when the individual is fully conscious) and absences (or petit-mal, where the individual seems to stare into space and is unresponsive to noise and touch).

Sources:
http://www.gosh.nhs.uk/medical-conditions/procedures-and-treatments/vagus-nerve-stimulation-vns-therapy/
http://www.epilepsy.com/epilepsy/vns

Communication

Through my work with young people with disabilities I have had to use many forms of communication including basic Makaton, body language, general conversation and eye and hand pointing. However one of the most challenging things I have faced is how to know what some young people want/need if they have very limited communication.

A couple of weeks ago I was fortunate enough to work with a lively young lad who has quite severe autism, with no verbal communication and very little sign communication. While swimming with him I was aware that he was not happy – I cannot say how I just got a sense. He subsequently tried to get out of the pool, however myself and other volunteers persuaded him back in. 10 minutes later he again wanted to get out; this time I realised that he wanted to go to the toilet – again I cannot pinpoint why but he was becoming rather agitated by this time.

However, as I had not fully understood him to begin with he unfortunately had an accident. As anyone can appreciate this left him very agitated and upset, so he unfortunately was unable to continue with the swimming session. On reflection, if I had understood what he wanted to begin with this may have been avoided, but it has really opened my eyes to the importance of communication – whatever type of communication this would be.

Another alternative form of communication I have used with young people is communication aps on I-Pads. These allow the young people to find a work from a bank of words split into different categories. They also allow a “diary entry” and “friends” so more words can be added. I have found these so useful, in particular when I am not familiar with a sign a young person has used.

I feel that through my work with the charity I have become lot more aware of what different forms of communication different people use, and how it is important for us to appreciate this, and be accommodating to different people’s needs. This in my opinion is not just vital in careers like medicine but also in daily life!

Voluntary work over the Easter Holidays

I found this previous blog entry of some of the voluntary work I did over the Easter holidays and my thoughts and reflections: (I apologise for the disjointedness!)

This morning from 10 – 2 I spent some time volunteering with young people with disabilities. This is something which I do on a regular basis and really really enjoy! I spent some time with one young lady today with quiet complex disabilities who I really enjoy spending time with, whilst I helped her to eat her lunch she realised that it is virtually impossible to chew whilst giggling at how much of a mess I had made; needless to say by the end of lunch I think we were both covered in Strawberry Yogurt!

I also spent a bit of time in the “sensory room”, this is a specialised room with projections of lights, a water-bed, a bubble tube, beanbags, a touch pad which plays songs when the hand prints are pressed and various other sensory stimulating activities. I have to admit it is one of my favourite places – I wish I had one as my bedroom! I always find it so calm and relaxing and could happily spend all day in it. I do think though that it reminds you of how the simplest things can be so enthralling and that some of the things which we stress about, school work, exams, jobs, yes they are important but sometimes taking a step back from it all and appreciating the beauty of things is really important.

After that I went to an interview for some more voluntary work at a local hospice. This is something which I am hoping to do in the summer time, and it was really interesting to get a feel of the place and learn a little bit more of what services it has to offer and how I can get involved. I know that the experience will be invaluable but at the same time it will definitely allow me to see what really is important in life – a bit like the sensory room in a way.

So I suppose today as really confirmed to me that medicine is what I want to do and has fuelled my passion – and hopefully it means I will study a little harder this evening! Yet it has also reminded me my reasons for doing medicine and just how much I should value the opportunities that I have.