Fanconi Anaemia

By Samantha, Fanconi anemia, United Kingdom, March 22, 2021

Rowen snuggles

Rowen was born with a condition called TOF/OA in basic terms her oesophagus was a dead end at the top and her stomach was connected to her lungs. Rowen had surgery at 3 days old and was best case scenario all the way through and we discharged at day 12 and we looked forward to seeing an end to that chapter.  We knew there would be issues related to her eating and had a course of dilatations at roughly 18 months old and a few hospital admissions for bolus obstruction of her oesophagus but again in general we were very fortunate.  At about 6 months old Rowen began to develop pale birth marks all over her back, it literally seemed as though it was growing so I contacted my GP who fobbed us off, because my instinct was strong I called a geneticist we had been referred to in the early days she asked me to email a picture which I did.  She called me minutes later and we were booked in to see her in the clinic.  After a full examination funding for further genetic testing was applied for to rule out nf1.  After a tense wait where I felt I analysed everything (was she meeting age appropriate milestones) and then we got the news 99% sure it wasn't that.  And we could breath.  At the same appointment we were given a leaflet about the 100000 genome project which after discussion we decided to join.  

2 years later (when Rowen was 4) I opened a parcel with Rowen's name on it and discovered a vial for more bloods and a letter saying that they suspected Rowen had Fanconi Anaemia but just needed one more test to confirm it.  Initially I was relieved, finally a reason for her symptoms and over the years she had been pale and lacked energy.  The word 'anaemia' I knew maybe she just needed more iron.  A quick google and I fell into a downwards panic spiral as I read that the life expectancy was only 20 years old and the list of things that she was to face including cancer.  It took 2 weeks for the chromosomal breakage test to come back and although I deep down knew what was coming it was just as devastating to have it confirmed.  Our older child was tested and found not to be a HLA match but also thankfully she did not have FA, she may be a carrier but that will be discussed at a later stage when she has gillick competency and can give consent to access this information.

Skip forwards another 2 years and we know more now.  Fanconi anaemia is a DNA repair disorder.  The first problem we are facing is declining blood counts which mean that Rowen will need a bone marrow transplant at some point in the next few years.  Rowen will face an elevated cancer risk in the future, anywhere between 5-800 times more likely.  We have been surrounded by amazing support from a UK charity Fanconi Hope and the American FARF .  With all the research that has been achieved in the last 20 years survival rates are now going up and this will only improve with better cancer surveillance and treatments.  

The process so far has been blood draws every 8 weeks for the first year, we have now moved to every 12 weeks as she is stable, marrow biopsies once a year.  Rowen has been seen by Cardiologists, endocrinologists, audiology, ultrasound for kidneys and other areas but once again she amazes us all by being best case scenario and if we had never had the gentic testing I wonder, would we even know?  We have to restrict UV rays as these cause damage at a cellular level, ensure no exposure to alcohol or cigarette smoke (gah not looking forward to the teenage years) and generally encourage a healthy life style.

We have explored gene therapy (which we were enrolled on only to find that Rowen is mosaic and therefore not suitable for the trial), trials for antibody conditioning (in place of chemo), PGD IVF to get a sibling match, haplo transplants, all sorts but just now we have decided to relax and breath while we can and build so many positive happy times for all of us as a family. We never truly know how much time we have with anyone but I intend on making the most of whatever  time I have with all of my family and in some ways I am grateful to have been reminded of this.

I am not sure if I have written too much and sure I have missed some things out but there you have it our story of Fanconi Anaemia.


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