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

Last week changes to the newborn screening programme were announced.  Babies will now be screened for 9 illnesses instead of the previous 5 illnesses.

The new-born screening programme involves taking blood from a baby in their first few weeks of life; this is done through the heel-prick test, also known as the Guthrie test.  By screening babies for these illnesses, they can receive treatment much more quickly for illnesses which can have devastating effects if left undiagnosed and untreated.

The Guthrie test previously screened babies for only 5 illnesses which are:

• Phenylketonuria (PKU),

• Congenital hypothyroidism (CHT),

• Sickle cell disease

• Cystic fibrosis

• Medium-chain acyl-CoA dehydrogenase deficiency (MCADD).

The test now includes the following 4 illnesses:

• Maple syrup urine disease

• Homocystinuria

• Glutaric acidaemia type 1

• Isovaleric acidaemia

This week we will be learning more about Maple Syrup Urine Disease (MSUD) and Isovaleric Acidaemia (IVA).  Both MSUD and IVA are genetic conditions.  This means if both parents are a carrier of the gene each baby they have together will have a 25% chance of being born with the condition, 50% chance of being a carrier for the condition, and a 25% chance of being unaffected – thankfully both of these conditions are incredibly rare.

MSUD and IVA are also both metabolic conditions.  A metabolic disease is a condition where the body is unable to break down the food we eat to turn it into fuel.  Enzymes are responsible for breaking down specific substances; in metabolic conditions this process is not effective of breaking down certain substances.  This can result in a build-up of toxins which can be incredibly harmful to the body as the body has no way to eliminate these toxins.

Over the course of the week we will be looking at Maple Syrup Urine Disease and Isovaleric Acidaemia in more detail in order to raise awareness of both of these rare conditions.

September is Leukaemia and Lymphoma Awareness Month, we’re taking part by raising awareness of the conditions and how stem cells can help.

Amanda Turner* shares the story of her daughter Casey’s cancer diagnosis and how Cells4Life have given Amanda’s unborn baby the chance to be Casey’s life-saver.

Amanda, Casey’s mum, recalls the moment she found out Casey had childhood cancer: “When we found out she was very ill it broke our hearts. I was so scared and I didn’t know if my baby girl was going to die, I didn’t know what to do. It has to be the worst day of all our lives!”

Determined to give her child the best chance possible, Amanda began fundraising with the help of a close family friend.   The money was to be used for expenses that Casey would incur through treatment and to cover the cost of storing her baby’s cord blood. Amanda was impressed with the possibilities that Cells4Life could provide when storing cord blood, not only could storing her unborn baby’s cord blood be used as a possible stem cell match for Casey but it could also be used to give her access to regenerative medicine should chemotherapy take its toll on Casey’s body.

*Names have been changed at the request of the family for confidentiality, pictures posed by models.