This week we are taking a look at Motor Neurone Disease (MND), a rare degenerative condition where parts of the nervous system become damaged.

Also known as amyotrophic lateral sclerosis (ALS), the condition causes progressive weakness usually accompanied by muscle wasting ^[1].  Motor neurones are specialist nerve cells which originate in the brain stem or the cerebral cortex, their cell body is housed inside the spinal cord and the axon controls muscles, either directly or indirectly, outside of the spinal cord ^[2].  Motor neurone disease occurs when these specialist cells no longer work properly.

Motor neurones control important muscle activity, such as:

•gripping

•walking

•speaking

•swallowing

•breathing ^[1]

As the disease progresses these activities will become increasingly difficult and may even become impossible which can have devastating effects on those with the condition.

As ALS is a progressive disease the symptoms usually begin gradually over weeks or months.  Common early symptoms include :

•slurred speech

•weak ankle muscles causing a “foot drop”

•difficulty picking up or holding items

•difficulty lifting arms caused by shoulder weakness ^[1]

Thankfully Motor Neurone Disease is rare, affecting approximately 1:50,000 people in the UK.  While the majority of people diagnosed are over the age of 60, MND can affect anyone over the age of 18.

Currently there is no known cure for MND and treatments are symptomatic and aimed at slowing the progression of the disease.  Stem cells are producing some exciting results for motor neurone sufferers in clinical trials, with a documented case of an elderly patient with MND being able to walk again.  While these clinical trials are showing promising results, they are subject to rigorous testing before any treatment which may be developed could become available to the public; the results are nonetheless exciting.

[1]  http://www.nhs.uk/Conditions/Motor-neurone-disease/Pages/Introduction.aspx

[2] http://en.wikipedia.org/wiki/Motor_neuron

This week we are taking a look at neuroblastoma, a childhood cancer, and finding out how stem cells could help.

Neuroblastoma is a cancer which develops from nerve cells called neuroblasts and is most prevalent in very young children with 90% of all cases being diagnosed in children under the age of 5, neuroblastoma in children over the age of ten is very rare.  Fortunately childhood cancer is incredibly rare however, of the cancers usually diagnosed in infants neuroblastoma is the most common ^[1].

Diagnosing neuroblastoma early in its development can be difficult as initial symptoms are common ones such as aches, pains, tiredness, loss of energy and constipation ^[2]; common issues in infancy. Other signs can include :

•a lump in the neck

•bone pain and difficulty walking, if the bones are affected

•numbness, weakness or loss of movement in the child’s lower body, if the cancer has affected the spinal cord

•pale skin, bruising, bleeding and frequent infections, if the cancer has affected the bone marrow

•bluish lumps in the skin and the appearance of “black eyes” ^[2]

There are several stages used to classify the diagnosis of neuroblastoma and some may be described as high-risk.  High-risk neuroblastoma is particularly difficult to treat and in cases where other treatments are unlikely to be successful an autologous stem cell transplant may be used ^[3].  Autologous stem cell transplants use the patient’s own stem cells and could be sourced from the bone marrow, peripheral blood or cord blood.

The prognosis of neuroblastoma varies according to the stage at which it is diagnosed.  For low risk neuroblastoma the 5 year survival rate is higher than 95% while for high risk neuroblastoma the 5 year survival rate is 40-50% ^[4].

As with all cancers early diagnosis is important to improving the chance of successful treatment and survival.  If you are concerned at all about your child’s health please visit your GP in the first instance, however, it is unlikely that a diagnosis of neuroblastoma will be given.

^[1] http://www.cancer.org/cancer/neuroblastoma/detailedguide/neuroblastoma-key-statistics

^[2] http://www.nhs.uk/conditions/neuroblastoma/Pages/Introduction.aspx

^[3] http://www.cancer.org/cancer/neuroblastoma/detailedguide/neuroblastoma-treating-high-dose-chemo-radiation

^[4] http://www.cancer.org/cancer/neuroblastoma/detailedguide/neuroblastoma-survival-rates

We’re continuing our support of National Heart Awareness Month as we look at congenital heart disease throughout this week and how stem cells could offer CHD patients hope.

Congenital heart disease is general term for a range of birth defects which affect the way the heart works.  Congenital heart disease affects approximately 9 in every 1,000 babies born in the UK making it one of the most common types of birth defect ^[1].

Generally the causes of congenital heart are unknown but there are certain things known to increase the risk including:

• Down’s Syndrome and other genetic conditions

• Rubella and certain other infections during pregnancy

• Diabetes; poor management of type 1 and type 2 diabetes in pregnancy

• Alcohol abuse during pregnancy

• Taking certain medications in pregnancy, including ibuprofen ^[2]

Down’s syndrome is the most common cause of congenital heart defects however there are steps women can take before and during pregnancy to minimise the risk of their baby developing a congenital heart defect.  These can include making sure their immunisations are up to date, avoiding alcohol, managing diabetes effectively and avoiding certain medications.

Congenital heart defects can be diagnosed during pregnancy so armed with the information that the diagnosis brings, parents can plan in advance and make the choice to bank their child’s cord blood to give them access to stem cell therapies and clinical trials.  Congenital heart defects can range from a small hole in the heart which may heal itself with time or be as severe as half of the heart not being there at all.

Congenital heart disease refers to a range of congenital heart defects; each defect affects the heart differently:

Aortic valve stenosis

Coarctation of the aorta 

Ebstein’s anomaly 

Patent ductus arteriosus

Pulmonary valve stenosis

Septal defects 

Tetralogy of Fallot

Total anomalous pulmonary venous connection

Transposition of the great arteries

Truncus arteriosus ^[1]

The symptoms of congenital heart defects can vary, however, the general symptoms to look out for are:

• excessive sweating

• extreme tiredness and fatigue

• poor feeding

• rapid heartbeat

• rapid breathing

• shortness of breath

• chest pain

• a blue tinge to the skin (cyanosis)

• clubbed fingernails ^[3]

It is important to seek medical advice immediately if you think someone you know may have a congenital heart defect.

Stem cells are being used in a range of ways to try and find effective treatments for congenital heart defects including tissue engineered replacement valves to the use of cord blood to try and strengthen heart muscle of those born with hypoplastic left heart syndrome.  Over the course of the week we will look at stem cells and congenital heart disease in more detail.

If you have other concerns about congenital heart disease or would like more information, please consult your GP or midwife.

^[1] http://www.nhs.uk/Conditions/Congenital-heart-disease/Pages/Introduction.aspx

^[2] http://www.nhs.uk/Conditions/Congenital-heart-disease/Pages/Causes.aspx

^[3] http://www.nhs.uk/Conditions/Congenital-heart-disease/Pages/Symptoms.aspx

Saturday 28th February is Rare Disease Day.  This week we will be taking a closer look at rare metabolic disorders and how stem cells could help.

There are between 6,000 – 8,000 known rare diseases ^[1]; any disease affecting fewer than 5 people in 10 000 is considered rare in countries within the EU ^[2].  At some point in their lives 1 in 17 people will be affected by a rare disease; in the United Kingdom this amounts to approximately 3.5 million people, this also means that collectively rare diseases are not rare ^[3].  Sadly, 75% of rare diseases affect children and 30% of rare disease patients will dies before their 5th birthday ^[3].

80% of rare diseases have a genetic component ^[1], for parents who are aware that their children may be at risk of certain genetic conditions, they may be able to prepare for the future by arranging for their child’s umbilical cord blood to be stored to access future treatments by the child themselves or other family members who are suitably matched.

There are over 80 illnesses in which cord blood therapies are an approved treatment, many of the conditions are considered to be rare diseases.  This week we will be looking at two rare metabolic conditions, the following list specifies inherited metabolic conditions where a haematopoietic stem cell transplant is a fully approved treatment:

• Aspartylglucosaminuria

• Adrenoleukodystrophy

• Alpha-mannosidosis

• Congenital Erythropoietic Porphyria

• Fucosidosis

• Gangliosidosis

• Gaucher’s Disease

• Hunter Syndrome

• Hurler Syndrome

• Hurler-Scheie Syndrome

• I-cell Disease

• Infantile Ceroid Lipofuscinosis

• Krabbe Disease

• Lesch-Nyhan Syndrome

• Metachromatic Leukodystrophy

• Maroteaux-Lamy Syndrome

• Morquio Syndrome

• Mucopolysaccharidosis

• Niemann-Pick Disease

• Sandhoff Disease

• Sanfilippo Disease

• Sialidosis

• Tay Sachs Disease

• Wolman Disease

The metabolism is the chemical process by which our bodies convert the food we eat into fuel to keep us alive.  The types of food we eat can be categorized in to carbohydrates (sugars), fats and proteins.  Each substance has its own special enzyme in the digestive system which can break it down so the body can utilise it.  A metabolic disorder occurs when the body is unable to break down a specific substance.

Over the course of the week we will look at Hurler Syndrome and Krabbe Disease; two rare hereditary metabolic conditions which can be treated with umbilical cord blood stem cells.

^[1] http://www.raredisease.org.uk/about-rare-diseases.htm

^[2] http://www.who.int/bulletin/volumes/90/6/12-020612/en/

^[3] http://www.raredisease.org.uk/

March is Cerebral Palsy (CP) Awareness Month and we’re excited to be taking part by raising awareness of this condition and how cord blood stem cells are playing a major role in finding an effective treatment for CP.

Cerebral palsy is a condition that affects muscle control and movement. It is usually caused by an injury to the brain before, during or after birth. Children with cerebral palsy have difficulties in controlling muscles and movements as they grow and develop ^[1].

There are 4 types of cerebral palsy;

•Monoplegia: affects one limb, usually an arm.

•Hemiplegia: affects one side of the body, for example the left side of the trunk, left arm and left leg.

•Diplegia: affects either both arms or both legs

•Quadriplegia: affects all four limbs

There is no cure for cerebral palsy and unfortunately, the only treatments available for cerebral palsy are symptomatic; the symptoms of CP are treated not the cause.  However, that is not to say that progress is not being made in finding an effective treatment for cerebral palsy.

A team in South Korea was the first to publish their findings of a clinical trial using cord blood to treat cerebral palsy.  The work done in South Korea has shown that umbilical cord blood stem cells have made dramatic improvements in movement, cognition and brain development.

In addition to the work being undertaken in South Korea is that of Duke University.  Headed by Dr. Joanne Kurtzberg, the team at Duke have also been celebrating the success of their clinical studies which have used cord blood infusions to treat cerebral palsy and brain injuries.  Such is the success of the trial at Duke that Kurtzberg and her team have received $15 million funding to explore and research the role cord blood could play in treating brain disorders ^[2].

Cord blood is providing remarkable results for patients of cerebral palsy in clinical trials.  In order for a child to take part in such a clinical trial they need to have access to their cord blood.  To help facilitate access to clinical trials Cells4Life have created +Protect Extra, this is a is a policy extension to +Protect that provides up to £50,000 of additional cover for your newborn in the event that Cerebral Palsy is diagnosed within the first three years of his or her life. Typically not covered by other insurance policies, this cover aims to provide a lasting life benefit for your child.

^[1] http://www.scope.org.uk/support/families/diagnosis/cerebral-palsy

^[2] http://corporate.dukemedicine.org/news_and_publications/news_office/news/15-million-award-to-go-toward-exploring-new-treatments-for-autism-other-brain-disorders

This week we’re talking a look at some of the men and women who are pioneering the advancement of stem cell research.

Pablo Rubinstein founded the world’s first public cord blood bank in New York in 1992, since then public cord blood banks have been opened across the globe saving thousands of lives.  Since that first cord blood bank opened, the treatments available with cord blood have increased and the research into its potential has expanded greatly.

Joanne Kurtzberg is a doctor at Duke University who famously works with umbilical cord blood to treat brain injuries, particularly cerebral palsy.  Her work is still at research level but the results have been very promising indeed.

Of course there are several sources of stem cells in the body, while cord blood is often the preferred source for many treatments, many patients in need of stem cell therapy do not have access to their cord blood as the option to bank it was not available at their birth and it was discarded.

Researcher Geoffrey Raisman used stem cells from a patient’s olfactory bulb to repair spinal cord damage which enabled his paralysed patient to walk again.  While this is very exciting research, it is incredibly early in its development but nonetheless, pioneering.

Another of our featured stem cell pioneers this week is Dr. Anthony Atala who uses 3D printers to print stem cells into organs; this pioneering work could revolutionise the organ donor register.

There are stem cell pioneers across the world who are working incredibly hard to turn what was once considered to be science fiction into science fact.  Thanks to these pioneers, stem cell research is an incredibly exciting area of medical science making an incredible difference to the way we think about treating medical conditions and also changing the lives of people around the world.

Here we look at Hurler Syndrome, a rare genetic metabolic condition.

The metabolism is the chemical process by which our bodies convert the food we eat into fuel to keep us alive.  The types of food we eat can be categorized in to carbohydrates (sugars), fats and proteins.  Each substance has its own special enzyme in the digestive system which can break it down so the body can utilise it.  In the case of those with Hurler Syndrome, the body is unable to break down a particular sugar called mucopolysaccharide.

Children with Hurler Syndrome are missing an enzyme called alpha-L-iduronidase which is essential in breaking down the mucopolysaccharides called dermatan sulfate and heparan sulphate^[1].  Since the cells in the body of Hurler Syndrome sufferers are unable to effectively break down the mucopolysaccharide it remains stored in their cells which causes progressive damage.  Unfortunately this means that the damaged caused to these children is not immediately obvious and symptoms only become apparent with increased cell damage.

Hurler Syndrome is a genetic condition caused by a recessive gene, for a child to have Hurler Syndrome both parents must carry the recessive gene.  Thankfully Hurler Syndrome is so incredibly rare that the odds of a child being born with Hurler Syndrome are 1 in 100,000.

While there is currently no cure for Hurler Syndrome, enzyme replacement therapy (also known as ERT) can help to make the illness more manageable.  In conjunction with enzyme therapy, or indeed as a standalone treatment, allogeneic stem cell transplants (from either cord blood or bone marrow) are also offering an effective therapy for sufferers of Hurler Syndrome.

For families where Hurler Syndrome is present, cord blood banking could be an astute choice as this increases the odds of a suitable stem cell match being found within the family.

^[1] http://mpssociety.org/mps/mps-i/

This week we are raising awareness of Krabbe Disease, a rare metabolic condition.

Krabbe (pronounced crab-AY) Disease, also known as globoid cell leukodystrophy (GLD), is a devastating inherited metabolic disorder. Krabbe Disease affects the nervous system, without screening it is usually diagnosed when symptoms begin to appear at around six months of age.  Unfortunately, once symptoms begin to appear there are no treatments available and the condition become fatal after severe degeneration at around two years of age.

Thankfully Krabbe Disease is incredibly rare affecting only 1:100,000 babies, that’s approximately 8 babies each year in the UK.  Because Krabbe Disease is a hereditary condition there is an increased risk of families having more than one child with Krabbe Disease.  Where this illness is known to run in families it may be possible to screen babies in the family for the illness.  If Krabbe Disease is detected before symptoms begin to appear then cord blood may be used as a pre symptomatic treatment and improve the outlook of the lives of the children born with this illness.

In Krabbe Disease the body is missing an important enzyme which breaks down certain types of fat-based compounds called galactocerebrosidase.  Unfortunately, without this enzyme the cells in the body do not work properly and compounds can build up within them.  In the case of Krabbe Disease the build-up damages the myelin sheath; the myelin sheath is a substance which covers nerve cells like an insulating cover on an electrical wire.  Without this insulation the nerves are unable to work properly and signals sent by nerves may not be received by other nerves or even be sent to the wrong place ^[1].

Patients with Krabbe Disease have stiff joints, weak muscles and poor muscle control all of which can affect their mobility.  In addition to mobility problems patients with GLD have difficulty with mental functions including learning, understanding, speaking and memory.  Krabbe Disease will progress and the patient will degenerate without treatment, unfortunately there is currently no treatment available which can repair any damage which has already taken place which is why early detection is so incredibly important ^[1].

^[1] http://bethematch.org/for-patients-and-families/learning-about-your-disease/krabbe-disease/

Human Immunodeficiency Virus (HIV) is the precursor of AIDS.  HIV is a ‘lentivirus’ which is a type of virus that slowly attacks the immune system; it belongs to a larger family of viruses known as retroviruses ^[1].  The origins of HIV are still widely debated and “tracing the origins of HIV is a politically sensitive exercise” ^[1].

HIV does not discriminate and is transmitted through infected bodily fluids.  It is most commonly spread through unprotected sex and drug use with dirty hypodermic needles.  HIV is not spread through kissing, sharing utensils or using the same toilet as an infected person.  As there is no mainstream cure for HIV, prevention is the best way to prevent infection.

80% of people who are infected with HIV experience a short, flu-like illness 2-6 weeks after infection known as seroconversion illness.  While a blocked, runny nose is not a symptom the following are:

•fever (raised temperature)

•sore throat

•body rash

Other symptoms can include :

•tiredness

•joint pain

•muscle pain

•swollen glands (nodes) ^[2]

As HIV is a disease which progresses slowly, further symptoms may not develop for many years, however this does not mean that the virus is not active – it is still able to be transmitted even though symptoms may not be present.  HIV is the precursor to AIDS (acquired immune deficiency syndrome); AIDS symptoms appear once the immune system has become severely damaged, symptoms can include :

•weight loss

•chronic diarrhoea

•night sweats

•skin problems

•recurrent infections

•serious life-threatening illnesses ^[2]

Since the AIDS epidemic of the 1980s there has been widespread research into finding suitable treatments for the virus.  Unfortunately a cure was thought to be out of reach until 2007 when Timothy Ray Brown, known as The Berlin Patient, was cured of HIV in a world-first.  The circumstances of Brown’s treatment were exceptional; he was HIV positive with leukaemia.  He was fortunate enough to receive bone marrow from a donor who had a natural resistance to HIV infection; this was due to a genetic profile which led to the CCR5 co-receptor being absent from his cells ^[3].  Only 1% of Caucasian people are HIV resistant.  Since his stem cell transplant, doctors have been unable to detect HIV in Timothy Ray Brown, rendering him cured.

These developments are incredibly exciting and for the first time since the AIDS epidemic of the 80’s a cure for HIV is now thought to be possible.  Due to the small amount of people who are HIV resistant, stem cell transplants may not the route to curing HIV but stem cell research may hold the key and has definitely enabled scientists to now start talking about the previously taboo “HIV cure”.

^[1] http://www.avert.org/origin-hiv-aids.htm

^[2] http://www.nhs.uk/Conditions/HIV/Pages/Symptomspg.aspx

^[3] http://www.aidsmap.com/Stem-cell-transplant-has-cured-HIV-infection-in-Berlin-patient-say-doctors/page/1577949/

For World Braille Day we will be raising awareness of blindness caused by Limbal Stem Cell Deficiency (LSCD) and how stem cells are being used to save sight.

The cornea is the window of the eye, covering the pupil, the lens and the iris.  In order for vision to be clear and unclouded is it essential that the corneal tissue remains transparent ^[1].  The limbus is the area of the eye which forms a border between the cornea and the white of the eye (the sclera).  When the limbus is unable to regenerate cells in the cornea and the border between the cornea and sclera breaks down Limbal stem cell deficiency occurs.  LSCD can be a painful and a blinding condition ^[2].  Thankfully limbal stem cell deficiency is rare.

The more common causes of LSCD are chemical and thermal injuries, autoimmune conjunctivitis, genetic diseases, and post- surgical stem cell loss with mitomycin-C. However, the most common cause of LSCD may be the one that is the most unrecognized: contact lens-induced LSCD ^[3].

The symptoms of Limbal Stem Cell Deficiency are:

•Eye pain

•Blurred vision

•Eye irritation

•Contact lens intolerance

•Decreased vision ^[4]

If diagnosed early enough LSCD can be treated effectively and the symptoms may even be reversed.  However if LSCD is not treated early enough then treatment may involve surgery.  Thankfully a stem cell therapy has been approved for widespread medical use in the EU for the first time and this stem cell therapy will offer treatment for LSCD.  The stem cell therapy (Holoclar) for LSCD is a major step forward in the treatment of Limbal Stem Cell Deficiency and is effective in approximately 80% of cases ^[5].

^[1] http://www.stembook.org/node/588

^[2] http://www.patientslikeme.com/conditions/2172-limbal-stem-cell-deficiency

^[3] http://www.eyeworld.org/article-limbal-stem-cell-deficiency-associated-with-contact-lens-wear

^[4] http://eyewiki.aao.org/Limbal_Stem_Cell_Deficiency#Risk_Factors

^[5] http://www.bbc.co.uk/news/health-30550113