DBA

Saskia – Diamond Blackfan Anaemia (pure red cell aplasia)

(Written in September 2006, by Stuart, father of Saskia.)

My wife Natalie and I have three daughters called Saskia, Alice and Imogen. The eldest, Saskia, has a bone-marrow condition called Diamond Blackfan Anaemia. This note is written in September 2006 as Saskia has just passed her 5th birthday.

The condition and current treatment

Diamond Blackfan Anaemia (DBA) is extremely rare, there being about 70 cases in the UK. It is a bone marrow defect where the marrow produces no red blood cells. Red cells are used to transport oxygen throughout the body. In a healthy individual, these cells are continually created and destroyed in a natural cycle in which iron is recycled from old to new cells. At present Saskia is given a blood transfusion in hospital once a month to maintain an acceptable haemoglobin level. She is also administered a drug at home via a needle for 5 nights every week, 12 hours a night which helps remove the excess iron in her system which would otherwise build up due to the transfusions. Saskia is a very happy, charismatic and otherwise healthy girl who is doing well at school, and whose friends are unaware of her condition apart from her disappearances from class for numerous tests and transfusions.

There are some longer term dangers associated with both her condition and also with the ongoing treatment she has.

Treatment history and hopes for the future

When Saskia was 12 weeks old she was diagnosed with DBA, having been taking to Accident and Emmergency with a blood level which, having fallen slowly from birth, was later described as being “nearly incompatible with life.” During the next 3 years Saskia received a variety of treatments, including a drug trial, to try to cure the symptoms and the condition itself. All failed, despite some giving temporary hope.

The only possible long term cure is a bone marrow transplant (BMT). The only realistic chance of finding a perfect tissue-matched BMT donor was for one of Saskia’s siblings to have the same genetic tissue type as Saskia. Any sibling has a one in four chance of being born a match. Alice is not a match, so when planning our third child Natalie and I decided to undertake a process called Pre-implantation Genetic Diagnosis (PGD) which involves normal In-Vitro Fertilization (IVF) plus the selection of an embryo with the desired tissue type. At the time this was illegal in the UK, though through continued pressure we, and others like us, managed to get the law changed. We managed to keep our names out of the press, though some other well publicised and identical cases were given the inaccurate and unhelpful tag “designer baby”.

Two separate trips in 2004 to Chicago, where PGD is legal, unfortunately both failed. However, we had success when we eventually got permission to try again in the UK and Imogen was born in 2005. Blood taken from the umbilical cord at the time of her birth together with some of her bone marrow now provide us with the possibility of undertaking the BMT process with Saskia.

Transplant

The BMT (actually a combination stem-cell and bone marrow transplant) will take place in March 2007. It is a dangerous and unpleasant process, involving strong chemotherapy which will temporarily destroy Saskia’s immune system. Whilst she will probably live through it and has a good chance of being treatment free 12 months after the transplant, the process itself is risky and very tough on her. The initial stages in hospital mean she will stay in a specially designed, air-filtered room for 8 weeks in the best case. During this time she will need a lot of care and support. We hope she will leave this room after a couple of months and be able to spend time at home, though she will still need to be kept away from school as the dangers of getting an infection in her immuno-suppressed state will be significant.

Natalie and I have thought a lot about what lies ahead, and are committed to trying to provide Saskia with a better life through this transplant.

Natalie and I are expecting our fourth child in late February 2007.