Niel and Gerhard Bouwer ALD Trust

The end of 2010 held a lot of promise and expectations for most of us, but for the Bouwer family it marked the start of a very different, tough and sad journey when their little boy Niel (7) started to show symptoms of a rare genetic disease. On 11 January 2011 Niel was diagnosed with a very rare disease called Adrenoleukodystrophy (ALD).

Adrenoleukodystrophy (ALD) is a rare, inherited metabolic disorder.  In this disorder, the fatty covering (myelin sheath) of nerve fibres in the brain is lost, and the adrenal gland degenerates, usually leading to progressive neurological disability and death. A good portrayal of the effects of ALD on both the victim and family is the film “Lorenzo’s Oil”.  It accurately describes the deterioration of a young boy with the disorder and resultant problems.  The film does intimate that a cure (Lorenzo’s Oil) was found.  Unfortunately this is not the case for those already with symptoms, although the oil is now a recognised and hopefully preventative treatment for all boys under 6 with the gene who are not presenting symptoms.  It is now also being tested as a preventative treatment for men with Adrenomyeloneuropathy (AMN) and females with symptoms.

Childhood X-linked ALD is thought to be the most common. It is known as an x-linked disorder as the abnormal gene is located on the x-chromosome, it is carried by females (who have two x-chromosomes and so the healthy one effectively cancels out the other) and passed on to males (who have only one x-chromosome). It will usually present in boys aged between 4 and 10 starting with abnormal or uncharacteristic behaviour, coordination problems and a decline in school performance.  This will normally progress to deterioration in all functions including speech, hearing, sight, swallowing, mobility and dementia usually within months of initial symptoms.  The affected child will eventually be completely dependent and the family will need full support and assistance from health and social services. Death will normally ensue within one to ten years. In some cases the disorder appears to arrest and the subject will live into adulthood.

The immediate treatment for little Niel meant a bone marrow transplant, with the immediate search starting with his closest family members, to minimise the risk of his little body rejecting the marrow.  As much as this was only the beginning of his journey to possible survival it was also the beginning of more despair for the Bouwer family.  On 24 January 2011, when Niel’s little brother Gerhard (5) was tested for being a potential donor, doctors discovered that he is also suffering from the same disease, this only two weeks after the shocking discovery of Niel’s illness.  Gerhard (5) is not showing any symptoms yet, but seems to have a more aggressive case of ALD.  Doctors treating Niel and Gerhard are only aware of four boys currently in South Africa suffering from ALD, with Niel and Gerhard Bouwer being two of these boys.

 As friends and family we know that there is little that can be done to take the pain and suffering away from this family.  However, the cost of treatment for these two little boys is estimated to be more than R1.4 million rand (excluding any costs associated with the post treatment support these boys might need).  The Bouwer family do have a medical aid but despite having this support the estimated costs will not be fully covered, leaving the family with a huge financial burden to carry, on top of the emotional roller coaster in their fight for survival and saving their two boys.  The purpose of this letter is a request for any financial support you might be able to offer in our attempt to save these boys, since life is so precious and they have hardly had their share of experiencing the bliss and joy it can offer.

The treatment of Niel and Gerhard Bouwer will also mark a significant chapter in the medical history books as South Africa haven’t had a successful bone marrow transplant for boys with ALD yet.  

In between all the darkness and sadness happening to the Bouwer family the brother’s elder sister, Grete-Ann is a ray of light.  Grete-Ann is a perfect bone marrow donor match for Niel and will be helping her brother through this ordeal.  We are very hopeful that little Niel can be the first as his sister’s bone marrow is so much more compatible and the success rate should be higher because of the close genetic relationship between the bone marrow donor  and receiver. 

Due to the significant risk, surviving these transplants and the bit of extra time little Gerhard has, the team is working hard on getting Gerhard on an ALD trial programme in France.  This altogether poses new challenges e.g. travelling and medical costs.  When selected, little Gerhard is due to start with this programme once the artificial cells through which the infected bone marrow cells are washed to cleanse it from the disease, are ready for use.  These cells are currently being cultivated by a medical team in France.  Once these cells are ready and when selected, Gerhard will have to go to France for the trial treatment with the hope that it will be successful and that he will be freed from the disease.

As friends of the family we have drawn up a trust with the first prerogative to save these boys as time is unfortunately running out for them.  The trust is called the Niel and Gerhard Bouwer ALD Trust.  Should we be blessed enough to raise more money than what is needed, the Trust will continue to support children suffering from rare genetic diseases and research into the early identification of ALD in young children like Niel and Gerhard.  The immediate need however is to provide financial support to Gerhard and Karen Bouwer to cover the excessive medical expenses for treatment and care of Niel and Gerhard. This will enable Gerhard and Karen to focus on important family time with their three children.

The current status of Niel’s treatment is that after several scan, MRI’s scan and blood tests he started (21 February 2011) with the preparation sessions (chemo therapy) for his bone marrow transplant to take place on the 2nd or 3rd of March 2011.  After the transplant he will remain in hospital for a further four weeks until he is strong enough and the doctors are satisfied that the bone marrow transplant was successful and that Niel’s immune system is strong enough to defend him from infections and other common illnesses.

The current status of Gerhard’s treatment is that his MRI scans and blood work results were sent to France for evaluation by the specialists in France in order for Gerhard to gain access to the trial sessions mentioned earlier.

Your donation will be appreciated more than words can ever express, as it will literally go towards saving two little boys for a family that absolutely adores them, not being able to imagine life without their little boy smiles.

The bank account details are given below should you be able to support Niel and Gerhard Bouwer, remember R1,000,000 is made up of many R1.00 coins.

Bank Detail 

Bank Name: Nedbank Limited

Branch Name/Code: Centurion/16214540

Account Type: Current Account

Account Number: 1005428344

Account Name: Niel and Gerhard Bouwer ALD Trust

SWIFT Code (international donations): NEDSZAJJ

Should you want to get more information on these two boys or on ALD please do not hesitate to contact family, friends and colleagues:

Derick de Beer: [email protected]

Erhardt Bahlmann:  [email protected]

Read more about ALD 

www.aldlife.org  (UK)

www.aldfoundation.org  (USA)