Hampshire Children’s Photographer – Portraits of Rett Syndrome

Two years ago, just a few months after Gracie was diagnosed with Rett, I met other girls with Rett for the first time at a picnic planned specifically to photograph them for the newly established Rett Syndrome Research Trust UK. So last Saturday, almost 2 years to the very day, I photographed those same girls and their siblings.

Rett Syndrome is a genetic disorder that robs our daughters of the most basic functions that we take for granted. They develop normally and then -BAM- they hit a wall and tumble backwards. For Grace, who began regressing at just 6 months, this meant turning back into a newborn-like state. She is now nearly 4 years old and is still like a newborn in her physical body, but not in her mind. The most devestating part of this whole thing is that these girls aren’t mentally delayed. They’re entirely mentally capable and know exactly what they want. However, unless someone is fighting for them and listening to them and their every movement {even if it’s only their eyes} they can’t communicate these things.

There are things about Grace’s Rett Syndrome that can take me into such a deep sadness if I think about it. Obviously, there’s the risk for every girl that they can pass away suddenly – it’s a reality of Rett Syndrome. But there are the everyday battles of being imprisoned inside her body that hurt my heart the most. Can you imagine the helplessness of having an itch you can’t scratch? A toothache you can’t tell anyone about? An ear infection that only gets diagnosed when it’s become too painful to bear? Screaming exactly what you want in your head but no one else hears it? Or simply the inability to cough strong enough to rid your chest of phlegm?

Yes, Rett Syndrome is truly miserable. But there’s hope. There is much research going on for a cure and this is a very exciting time to be living in because it’s beginning to look entirely plausable that a treatment could come through bone marrow transplants in the near future. Rett Syndrome is such a young condition, only discovered in the 60’s. Someday, Rett will be good news because there will be a cure. Please take a moment to look at these girls and then visit this website to learn about the drive for a cure. There is no government funding for Rett. No celebrities fighting for research or walking red carpets for awareness. It’s just a whole lotta moms, dads, aunts and uncles raising what they can to pay for the lab time for a few really outstanding scientists.

So for goodness sake if you know any celebrities, send them our way!

{3} Erin

Erin is 8. She was diagnosed with Rett at age 7. Genetically speaking, she has deletion on MECP2 between exons 3i and 4v. Erin suffers from mild scoliosis and lately from dystonic attacks on her neck which cause her jaw to move to one side making her face deform and her body jerk as if she is having an epileptic fit. Before the regression she once said “bye”, once pointed at a dog and she used to call me or milk ‘ma’ but she never walked, crawled or turned over. Erin loves music, water and horses and she adores her sister Sofi.

{4} Sofi

Sofi is Erin’s sister. Her mom told me that: “When Sofi was 2, I told her that at the town where I come from you can watch the shooting stars in August. About a year later one day she came home from the nursery and said “Mummy we need to wait for August and when we see the shooting stars we can all wish that Erin can walk and talk and play with me and I can wish for toys from Santa instead of a cure for Erin.”

 {5} Amy

This is Amy & her big sister Abby. Amy has Rett Syndrome in the form of R168X just like my Gracie. According to our geneticist, this mutation is the second most common of the 12 mutations and according to other things I have read, it is known to be the most significantly debilitating, however that statement is up for debate, naturally! Amy is unable to sit unsupported, stand, walk or use her hands. She can’t speak with words, but uses her voice to ‘sing’ constantly. Her 9 year old sister Abby says “she is the best sister in the world”. This year, Abby initiated a sponsored day of silence which a few other siblings participated in whereby they were completely silent for an entire school day to raise funds for research. You can read about her family’s experience of living with Rett syndrome on their blog here: Living with Rett Syndrome.

{6} Frankie

Frankie is 7 and was diagnosed when she was just over 3 years old. Frankie walked at 18 months and learnt words like ‘mamma’, ‘dadda’, ‘bye’, ‘hiya’ as well as some basic Italian words and has retained them and continues to use them appropriately along with ‘ye’s and ‘no’ and ‘Cam Cam’ for calling her brother Cameron. Her mutation is C.1157_1197 del 41

{7} Cameron

Cameron is Frankie’s brother and absolutely adores her and always takes her out with his friends to play, he tells her everyday how cute she is, and always gives his pocket money and birthday money to sponsor someone raising money for RSRT UK. This year he made a stack of friendship bracelets to sell at our Rett Fundraising Day and raised lots! He is an amazing brother.

{10} Lauren

Lauren is 5 and was diagnosed with c.880C>T(p.Arg294X) at the age of 2.5 She never learnt to crawl, stand or walk independently but can weight bear and on better days she can take a some awkward steps holding on to our hands. She has poor sleep patterns, anxiety and digestive issues. She has curvature of the spine and isn’t able to use her hands in any purposeful manner. She never spoke words but is very vocal and has an infectious laugh. Her mom told me that: “Lauren’s biggest limitation is probably me, for not being able to guess correctly what it is that she wants or needs everyday. How frustrating must that be? I can’t bear to think.”

{12} Megan

Megan is nearly 11. She lives with her grandparents who say of Megan: “By the age of 2, she had a few words, could finger feed, and stand with support. She didn’t crawl but could do a very fast bum shuffle to see what was on the television. She was extremely happy and very very sociable. Very soon after this we noticed she was becoming less interested in toys, not pulling herself up anymore, not trying to crawl. We discovered Rett Syndrome and soon our fears were confirmed at the age of 3.” Like Grace & Amy, her mutation is R168X.

Living with her grandparents, who are pensioners, is not the best future for Megan and so they made the hardest decision yet; to let her grow further in a residential school, which she starts 1st August, this year.

Megan has epilepsy and scoliosis so pronounced that she will need major spinal surgery next year.

{13} Grace

Gracie is my little girl and the inspiration for the name of this business. This photo wasn’t taken on the photo shoot day because I was just so darn busy photographing everyone else! Grace’s mutation, like Amy, is R168X. Grace can’t sit up, roll over, crawl, talk or use her hands. She has a feeding tube and can only eat baby food consistency foods. Her brothers are Jack and Elijah. Elijah, 8, recently participated in Abby’s sponsored day of silence and kept silent for {nearly} an entire day and raised £375 for the RSRT UK. You can keep up with Grace at her blog Grace for Rett.

{14} Olive

Olive is 2. She was diagnosed at 17 months old. Tilda is her non-identical twin sister. Her mutation is c.473C>T (p.Thr158Met) Bidirectional sequencing of amplicon 4a (exon 4). Olive can not walk yet or use her hands for purposeful tasks and is trying very hard to use her voice to let people know her needs. You can read more about her at Olive’s Rett Syndrome Journey.

The Author & Artist

I'm Elizabeth, the photographer behind Gracie May Photography. I've been shooting since my first wedding in 2008 on a borrowed camera.

Hot on the blog

See more