Our beautiful daughter Jessica was born in September 2011 with a severe heart defect called hypoplastic left heart syndrome. This was diagnosed at her 20 week scan and we were initially told that she was unlikely to be suitable for surgery. However, a pioneering in-utero operation at 28 weeks to enlarge a hole in her atrial septum was carried out and she was able to make it to term and get through her first open-heart surgery at just eight hours old. Jessica underwent five more surgeries during her life. Her final surgery - the Fontan procedure - took place in December 2017. She initially made a good recovery but sadly passed away suddenly on 14th April 2018 at the age of 6. This is the story of a little girl whose half a heart overflowed with love. She was, and will forever be, our little miracle and brought joy to all who knew her.

Monday, 18 June 2018

Learning a little about Jessica’s genetics

We had a phone call from Southampton a couple of weeks ago. They had been in contact with Dr Fowler, the pathologist, with regards to some genetic analysis that had been done on Jessica. This showed that Jessica had a small area missing from one of her chromosomes.

Humans normally have 23 pairs of chromosomes in each of their cells. These pairs are numbered 1-22 in order of size, with the two sex chromosomes (XX for females and XY for males) making up the 23rd pair. One half of each pair is inherited from your mother and the other half is inherited from your father. The small area that Jessica was missing was on the short arm of one of the chromosomes in pair 11 and is called a 11p15.4 deletion.

Normal human female chromosomes

Whilst it was unlikely that this deletion had any impact on what caused Jessica’s death, Michael and I were referred to the geneticist at Oxford for a blood test to see if either of us carry this mutation. As we hadn’t received an appointment for this when I went for my antenatal appointment last week, it was chased up by the obstetrician. It turns out that there is actually quite a long wait normally to see the geneticist but me being pregnant has helped significantly speed things up in this regard! This morning, we had an appointment at the John Radcliffe for the genetic test.

The geneticist doesn’t think that this very small deletion is significant either with regards to Jessica’s heart condition or her death. There is a rare neurological condition associated with the deletion but this only occurs in adulthood and the deletion would need to be on both chromosomes in the pair. Jessica would therefore have been a carrier for this condition. It is likely that she inherited this from one of us but it is highly unlikely that we both would carry this deletion. In terms of the post-mortem results, she feels that it is, in her words “a red herring”.

Our impression is that this test is being carried out just as part of gathering as much information as possible from Jessica’s tissue samples. We had our blood tests done this morning and it will take about six weeks before the results come back from these. This also means that we are unlikely to receive any results from Jessica’s post-mortem before this time as well. We don’t yet know if there have been any other results from the post-mortem which may shed any light as to what caused Jessica’s sudden death. We will update again when we know more.

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