Emmy was born in August 2009, the second of three daughters. Her eldest sister Laura was born in 2007 and her younger sister Zoé was born in 2013. My pregnancy with Emmy was completely normal and there were no problems apparent.
Emmy was overdue by four days.The delivery was difficult and Emmy was in some distress. Following Emmy’s birth our paediatrician didn’t see anything particularly unusual yet Emmy failed some of the neonatal tests.
After two months, we first started observing some abnormal behaviour and unfortunately Emmy started having seizures. From the age of 3 months, Emmy was put through a battery of diagnostic tests in an effort to find the underlying cause of Emmy’s condition, and so the hell of hell of appointments and hospitalizations began. At 4 months of age, Emmy’s neurologist confirmed that she suffers from epilepsy and initiated the start of treatment. When Emmy was 5 months old, she had her first MRI which showed that she had a malformation of her corpus callosum also known as agenesis. However, this result was not enough to explain her developmental delay. At this point, the battle for genetic research began…
It took 4 years of research from mum, dad and Laura to finally determine Emmy’s diagnosis – a mutation at the chromosomal location 16q23.3 which corresponds to the WWOX gene.
Emmy doesn't talk, can't walk, can't sit unassisted. She is seated in a custom moulded shell for comfort. She also wore a Garchois corset for her bone malformation along with braces on her feet and hands and I used to call Emmy my little Robo-cop!
Communication is very difficult. Emmy cries when she is not well or in pain. And she smiles when she's is feeling well and happy. But it is so hard to know why Emmy is crying and to find out why.
Emmy has tried so many treatments for her epilepsy and it was very difficult to stabilize her. Emmy still has some seizures today, but they are not life threatening. We have finally found the right medications. Emmy was followed at CAMPS from the age of 6 months for appointments with her neurologist, physiotherapist, psychomotricity, etc. Emmy was also admitted to the day hospital in Trestel in the Côtes d´Armor in Brittany in order for doctors to follow her progress and all her fittings. At the age of three and a half, Emmy was admitted to the centre for children and adolescents with multiple disabilities in Trestel.
At the age of 4 years old, Emmy was operated on for a left ureteral reimplantation due to reflux. In the same year, Emmy also had a right hip osteotomy, varization and derotation and also a right tenotomy. After all of her surgeries, Emmy lost a lot of weight and was unable to feed herself by mouth. This was exacerbated as she also has swallowing problems.
In August 2013, Emmy met her little sister Zoe for the first time. In 2014, at the age of 5, a gastrotomy was performed and since that time Emmy is exclusively fed this way. But Emmy still likes to taste chocolate, caramel mousse and ice cream on the tip of her tongue. In 2015, at age 6, a pulmonologist prescribed a CPAP (Continuous Positive Pressure) machine because Emmy had a lot of sleep apnoea and her saturation dropped dramatically. Today she has a NIV (non-invasive ventilation) which is much more efficient. That same year, Emmy had a fractured femur, which required a very long immobilization, and we also discovered osteoporosis.
For 4 years, Emmy had injections every 6 months to limit calcification in her bones. In September 2017, Emmy had a cystostomy to limit the urinary problems she had been having since she was little. Emmy also had many hospitalizations for pyelonephritis.
In July 2019, the doctors gave us the final prognosis for our daughter. It was very difficult for all of us and we thought the end was closer than we expected.
Emmy had gained a tremendous amount of weight in such a short time, and had swelling all over her body. Another battery of tests ensued to find the origin of her weight gain including more genetic research, but so far they did not find anything. Emmy’s breathing problems started once again and she needed oxygen. We are currently trying a treatment which appears to have stabilizes her for the moment.
Since the end of 2017, Emmy has been on HAD (Home Hospitalization) and also goes to the Maison de L’Estran center in Trévou-Tréguignec. It is unfortunately becoming more and more difficult to take care of her. I have asked for help as Emmy is growing up and she is becoming more and more fragile. It requires two people to physically assist Emmy with her daily care including activities such as bathing. Emmy’s treatments and medications make for a long list. Anticonvulsants, anti-pain, anti-reflux, treatments for constipation, Peristeen, bladder catheter and more.
Today Emmy is stable and fights every day. She has no breathing problems at the moment but we are keeping a very close eye on her. However, the older Emmy gets the more fragile she becomes. But the good news is that Emmy is more and more alert and present.