It is unique and long-awaited baby parents who for many years tried to overcome infertility. Now, after the birth of a daughter, they learn to live with another diagnosis – a rare genetic disorder called “Williams syndrome”.
Williams syndrome causes developmental delay, health problems and special facial features. Patients, as a rule, very outgoing and social person, very trusting of a total stranger.
Parents of children with Williams syndrome have a hard time. But nothing is impossible, if the child – beloved and long-awaited. Their unique experiences shared mother of five girls with Williams syndrome Catherine Taylor.
“Lauren is our only child. When we go to the doctor, we tell all staff about what is Williams syndrome because many have never even heard of it.
Before I got pregnant, I’ve been treated for infertility, so that the conception itself was a miracle. For a period of 24 weeks we went for an ultrasound, the doctors noticed that the fruit is very small. Remaining until delivery time has passed in constant anxiety: the doctors said that with the child something not so, but they don’t know what it is.
At 36 weeks pregnant I have severely high blood pressure, and doctors decided to do caesarean section. Baby Lauren I saw just a few seconds: it was immediately put in the ICU. She weighed a little more than six pounds, and the doctors were not sure that she will survive. But Lauren was a fighter.
Williams syndrome she was diagnosed with at 4 months. We’ve never heard of this disease and had no idea what this means for Lauren and for us as a family. The doctor advised us to contact the British Fund for the support of patients with Williams syndrome – where we received the first support and assistance.
Williams syndrome has many health implications for the health of Lauren. She has heart issues, hypersensitive hearing, problems with sleep and eating. She doesn’t walk like the other children, and in 5 years it development approximately two year old child. She tried to treat eight different specialists.
The good news is that it is very, very sociable. She has no idea what the danger or enemies. Each counter becomes Lauren’s friend, she immediately wants to meet him and say Hello. In the supermarket we spend a lot of time, because she’s trying to each a high-five and say Hello. She likes it when her answer when people smile in response to her smile. She enjoys communicating with people.
Of course, deep down I worry that one day it could hurt her. When she got older, she will learn that not all strangers are friendly. But still she was never alone, always someone accompany is something we take very seriously.
In children with Williams syndrome deficiency of melatonin – the sleep hormone. Since childhood Lauren has never covered herself, she always had to keep on his hands and rocking.
When she turned two, we were exhausted from lack of sleep, but did not know where to turn. But then we learned that there are pills containing melatonin. Every night Lauren drinks a pill and falls asleep. Unfortunately, the action is not long enough: in the night it can several times to Wake up and then feel tired during the day.
All the food for Lauren, you have to blend it: it is still difficult to chew solid food, like meat. Children with Williams syndrome are very small, they need to eat well, so they gained weight. Every day we try to persuade Lauren to drink milk and eat other foods that make it healthy and strong.
Lauren doesn’t fit normal shoes: she wears special shoes that lock her legs more carefully. Her speech, probably at the level of a two year old child. Favorite word is “hi”, her favorite activity is singing and dancing. Lauren loves the birthday song “happy birthday to you”
Say that children with Williams syndrome have a very good aptitude for music, but they are also very sensitive to noise. When Lauren was little, she couldn’t stand the sound of coughing or sneezing. She still doesn’t like passing a motorcycle or police car with siren, she can’t stand the sound of lawn mowers and power tools.
We don’t know what is the prognosis of doctors for Lauren. We have met many families where people live with the same diagnosis: someone was able to live independently, and someone who still depends on parents. I don’t know what to do Lauren.
Now I had to temporarily leave work to care for her. Fatigue, lack of sleep, stress and anxiety are familiar to me. But I like to see her face smile and her every achievement, be it a new song or a sentence. For us it is a huge step forward.
We want to live a long and happy life with Lauren”.
Source: today.com Anna Stachura