Madelyn Faith

Madelyn Faith

Madelyn Faith, is our beautiful daughter, little sister to Hannah who is 6 and big sister to Ari who is 1. Madelyn has just turned 3 and she has trisomy 18 . She was diagnosed when she was 7weeks old and at that time we were told that Trisomy 18 is a condition that is ‘incompatible with life’. She had, at best, a 5% chance of ‘making it’ to her first birthday...we were devastated.

Our whole life changed from that one moment. We felt lost, sick, alone, scared, hopeless... One thing we did though, during that time was scour the internet for hope, even though the doctors insisted she would not survive, we persisted to find other children who had survived or who are living with Trisomy 18. We came across a few, but none with her exact genetic duplication, which gave us some hope but not the security we wanted. 

One thing that was difficult for us to comprehend about the diagnosis and the prognosis we were given, was that our daughter didn’t display any of the usual symptoms/characteristics of trisomy 18. She was a bit ‘off’ at birth, really struggled to feed, had low tone and was small, but other than that, she was healthy. This is why it made it so difficult to accept that she was going to die. However the doctors were so insistent. They said ‘she will probably get an infection and just not recover’ when we enquired about what she will actually die from. 

After we took her home, she kept getting stronger and meeting little milestones in her own time. When we saw the genetics doctor we asked for a retest and we were overjoyed to find out that Madelyn in fact has a mosaic form of trisomy 18, not full trisomy 18. This means that not all her cells are affected by trisomy 18, and she actually has a whole bunch of ‘normal cells’ too. What this means differs from each child, some children with mosaic trisomy 18 display characteristics much like those with full trisomy 18, others are so mildly affected they often don’t find out till much later in life and usually by accident. 

Madelyn at 19 months old

Once she got the mosaic diagnosis, we were still nervous, and the doctors admitted to us that they don’t know what we can expect, that we must wait and see how she develops.

The first 18 months to 2 years were hard, there were lots of appointments, both medical and therapy, she had sleep apnea and had to have her tonsils and adenoids removed, she had oxygen for the first year of her life while she was sleeping. She has small ear canals, she had conductive hearing loss as a baby, which has contributed to her speech delay now. She is petite but eats well. Developmentally she is pretty much on track, she is even ahead in some things. 

Right now, Madelyn is doing great, she is developing typically for her age. She is a very kind an thoughtful little girl, who loves to Irish dance to Emma Wiggle and play with her brother and sister. She is cheeky and gives the best hugs in the world.

We were so glad to get in touch with SOFT Australia when Madelyn was a few months old. We were not on facebook at the time, otherwise we probably would of connected sooner. Having other people who had/are walking through our situation or similar was a God send, we even went to the SOFT conference in Melbourne when Madelyn was just 4months old. It was so good to meet other SOFT parents in person.

If I was to give any advice to parents who have just received a diagnosis of Trisomy 18 or another Trisomy condition it would be to have hope, to try and meet and get connected to other families as soon as possible, and to not take the doctors word as gospel. It would also be to just focus on your child’s symptoms rather than their diagnosis of trisomy. Each child is affected differently so it is virtually impossible to compare each child. I hope that Madelyns story will give other families hope and I hope that me, and my family can offer support to families in the future.

~ Nicky Mumford

Madelyn on her third birthday!