Next January, researchers are carrying out the first ever clinical trial using stem cells in the womb to treat 15 foetus suffering from brittle bones disease. They are also treating 15 babies comparing the number of fractures to see if earlier treatment in the womb is more beneficial to start life with a stronger skeleton. The stem cells are taken from the liver of terminated foetus, then injected into the recipient. The stem cells divide and are then incorporated into the bones. The collagen help to strengthen and develop bones and heal fractures. Because the immune system has not fully developed they are more able to accept the transplanted stem cells. It’s inspiring to know that we could improve the lives of others in the womb before we are even born. Being able to strengthen their bones will allow them to suffer significantly less fractures.
More about brittle bones disease:
Brittle bones disease is caused by a mutation in the gene for producing collagen, a protein which strengthens bones, being deficient in making it and therefore are prone to fractures. Most cases are caused by mutations in the COL1A1 and COL1A2 genes. Diagnosis is based on the clinical features and may be confirmed by collagen or DNA testing. There is no cure and treatment is aimed at increasing overall bone strength to prevent fracture and maintain mobility. Brittle bones disease occurs in about one per 20,000 live births.
There is such a difference in severity between the types. There are surgeries available as well as physiotherapy to help but do not make a significant improvement without collagen being able to strengthen bones.
For the past few days I have been working in a special needs school in which I was placed in each of the 4 classes age 3-19.
Today I went to my local hospital where I observed a nurse carrying out treatment on a Haemochromatosis patient. Treatment involved a venesection to take one pint of blood to be taken every week for a year where the treatment will reduce to just 3-4 venesections a year when the iron levels in the blood return to a normal level. The nurse firstly asking him how he had been feeling this week, if the treatment was improving the way he felt and easing symptoms however this was not the case. Next, the patients blood pressure was checked and they were making sure they had been drinking enough water as at previous appointments this caused problems for the treatment allowing the patient to go into shock and the blood not running properly. They then asked them if they were comfortable – if there he would like his legs raised, to sit or lie down, arm propped up on a pillow to make sure they were comfortable and relaxed before they began. Most importantly she asked if the patient had any questions and if they were ready to begin there treatment. The nurse then talked through the procedure as she was doing it to ensure the patient knew what was happening and to keep them relaxed, informing them it is just the same routine as every other week and that they don’t need to worry. The treatment consisted of a venesection where inserting a needle which is larger than a blood sample needle, she instructed that the needle was about to go in and that it would be uncomfortable for a few seconds. Once in, the blood flowed nicely into the bag, the nurse said she was pleased and that it was running nicely compared to previous appointments where they had only been able to get around 1/4 – 3/4 pint of blood because they had not been drinking enough water. The whole process only took around 15 minutes, pressure was applied to the area when the needle had been removed, the patient was handed a cup of water and asked how they were feeling. They were told to stay for another 10 minutes just to make sure they felt ok because of feeling very dizzy at previous appointments.
During the appointment, the patient discussed his treatment plan and how it was diagnosed and later I researched more into the condition: Haemochromatosis is a inherited blood disorder in which the iron levels build up slowly over many years. The patient initially went to the doctors complaining about being tired all the time, joint pain and feeling dizzy but because the patient is in his late 30’s they thought it wasn’t due to age. They then ran blood tests which came back indicating that his serum ferratin (a protein that stores and releases iron) levels were elevated along with high transferrin saturation levels. Because his blood showed high levels of iron in the blood, the patient was tested for the HFE gene (the faulty gene for haemochromatosis) – this faulty gene allows your body to absorb excess iron from food. People with haemochromatosis cannot control levels of iron in their bodies in this way. As a result, iron builds up over time and is usually deposited in the liver, pancreas, joints, heart or endocrine glands.
To be affected you must have both HFE gene to be affected by Haemochromatosis, however only 10% of these people get symptoms. If you have one HFE gene then you will be a carried for the faulty gene.
I found shadowing this procedure fascinating as it’s not often you get to see so much blood in shadowing a nurse. I learned lots from this experience and mainly the communication skills and how the nurse empathized with the patient. This really made the patient feel relaxed and not worried about the procedure at all and trust in what they were doing. The nurse made a real effort to understand how the patient was feeling as an individual and took the time to listen to what they were saying to make sure they felt they got the most out of the time they spent their.
An organ donor is someone who donates their tissues or organs for transplant. Transplants can save someone’s life or improve their health and quality of life this is why I became an organ donor so that after my life I can still continue to save the lives of others, by registering as an organ donor so that my organs can be transplanted to those with damaged organs that need to be replaced in order to survive. Organ donation gives comfort to grieving families to know that their loss is helping others and the opportunity for part of them to move on. There are two types of organ donation: living and deceased.
Living donation: For living donation, firstly they assess your health to check that it is safe for you to donate and that the organ would be a suitable match for the recipient.
- You are able to donate your kidney and live a healthy life with only one.
- You can donate a section of your liver, 25% can regenerate lost tissue and grow into a full size liver.
- If you are having a total hip replacement you can donate the femoral head removed during your operation to help others who need a bone graft to restore health and mobility through impaction surgery. The femoral head is the highest part of your thigh bone.
- Amniotic membrane is part of the placenta. It is the tissue closest to your baby while it develops in the womb. If your baby is delivered by caesarean section, you can donate the placenta at delivery. It can be used in eye surgeries to help wounds heal faster.
- Kidney: The may need a kidney transplant if you have end-stage kidney disease, there are several treatments for kidney failure including dialysis. The common causes of chronic kidney failure are:
- primary kidney disease
- diabetes mellitus
- some infections
- prolonged high blood pressure
- cardiomyopathy – a group of diseases of the heart muscle. The heart becomes weakened or stiffened.
- Inflammation of the heart muscles causes the muscles to fail
- coronary heart disease – blockages or narrowing of the blood vessels leading to the heart.
- Heart: You may need a heart transplant if you have: A heart transplant is replacing a diseased heart with a healthy one from a donor. The procedure takes several hours.You may need a heart transplant if you have:
- Liver:Liver disease occurs when the healthy liver cells die or healthy tissue becomes scarred.You may need a liver transplant if your liver becomes damaged because of:
- some inherited liver disease
- viral infections
- autoimmune diseases
- liver cancer
- Other toxins
- As the liver gets progressively damaged it will lose its functions causing liver failure, or end-stage liver disease.
- Isolated hepatocytes transplant is also another treatment for acute liver failure and liver diseases involving enzyme deficiencies.
- Lungs: A lung transplant is replacing one or both diseased lungs with healthy ones. A lung transplant can take 4 to 12 hours.
You might need a lung transplant if:
- Chronic obstructive pulmonary disease (COPD) – diseases which damage the lungs, often caused by smoking
- Idiopathic pulmonary fibrosis – scarring of the lungs
- Cystic fibrosis – a genetic condition where the lungs and digestive system get clogged with mucus, making it hard to breathe and digest food
- Pulmonary hypertension – raised blood pressure in the pulmonary arteries – the vessels that carry blood from the heart to the lungs
- Pancreas: Most pancreatic transplants are done for people with type 1 diabetes and end-stage kidney failure. But this is not a regular treatment for diabetes. Most diabetes can be managed with tablets and insulin.A transplant is recommended for people who:
- do not respond to insulin treatment
- have kidney disease, leading to kidney failure
- have frequent and severe hypoglycemia
- Small Bowel:
There are different types of transplants:
- Small bowel transplants – for people with bowel failure who do not have liver disease
Combined liver and small bowel transplant – for people with bowel failure who also have end-stage liver disease
- Multivisceral (multiple organs) transplant – not commonly used but recommended for people with multiple organ failure.If your small intestine fails, you would need to get nutrition. We usually give this through a drip into your veins.When this is not possible, you may need a small bowel transplant. You will also need long term immunosuppression after a small bowel transplant.The common causes of small bowel failure include:
- Corneas: Common Reasons for corneas transplants:
- Tissue: Almost anyone can become a tissue donor with some exceptions. Tissue donation is giving your tissues to enhance the lives of others. Some tissue can only be donated from deceased donors. Others can be donated from living donors.
- transplanted to save the lives of children born with heart defects and adults with damaged heart valves
- used as a natural dressing
- help to treat people with serious burns by stopping infections
- help to reduce scarring and reduce pain
- used for people receiving artificial joint replacements
- replaces bone that has been removed due to illness or injury
- helps reduce pain and improve mobility
- attach bones and muscles to each other
- can help rebuild damaged joints
- to help restore sight to people with cornea problems caused by eye disease, injury, or birth defects
I looked into the many different types of transplants which were available and the common causes of needing a donor organ. There are so many diseases and genetic conditions requiring transplants than I first imagined and the waiting lists are long and not everyone is going to get the organ, they so much need. There is not enough organs for everyone but registering to become a donor could help save the lives of many. Donor organs give people a second chance, improve their health and quality of life they could have never imagined.
https://www.organdonation.nhs.uk/your-stories/people-who-have-benefitted-from-receiving-a-transplant/ –Click here to read about some of the stories from people who have benefited from receiving a transplant.
National transplant week is the 7th – 13th September 2015
I decided to do a first aid course as this allows me to gain vital skills. In my course we went through paediatric first aid for infants and children but also first aid for adults additionally. This was more suitable than just a first aid course as it doesn’t cover the differences in approaching situations for different age ranges. I can now react quickly and know how to deal with a situation before an ambulance arrives.
I learned so much on this first aid course such as:
- Understanding my role as a Paediatric First Aider
- Being able to assess an emergency situation and act safely and effectively, by conducting a scene survey and a primary survey (DR ABC) on an infant or a child.
- Being able to provide First Aid for an infant and a child who is unresponsive and breathing normally- putting them into the recovery position and continuously assessing the situation and monitoring the infant or child whilst in my care.
- Being able to provide First Aid for an infant and a child who is also unresponsive and not breathing normally.-identifying when to administrate CPR, and how to carry it out differently on a child and an infant. Also how to deal with when an infant or a child experiencing a seizure.
- Being able to provide First Aid for an infant and a child who has a foreign body airway obstruction- to tell the difference between a mild and severe obstruction, how to treat someone who is chocking and administrating the procedures for treatment of an infant or child choking.
- Being able to provide First Aid to an infant and a child who i wounded and bleeding- understanding the different types of wounds, the severity of the bleeding and the effect on the infant and child, to control the minor or major bleed, and administer First Aid for minor injuries.
- Being able to provide First Aid to an infant and who a child who is suffering from shock- to recognize and manage someone in shock and also someone who is in anaphylactic shock.
Having first aid skills are essential and you could possibly save so many lives and give them the best chance of surviving!
Welcome to my medical blog! After attending Medlink 2014, I have been encouraged to create a blog specifically towards my interests and experiences of Medicine – to create my own unique digital footprint.