Sandra is the mother of Samuel, a little blond guy who was diagnosed with Prader Willi syndrome a few days after his birth. She tells us about the anguish, the announcement, the disease … life.
From birth, my son was taken from me
My pregnancy went very well. I even continued to take the stage and dance until I was 5 months pregnant.
2 days before the term I lost water in the middle of the night but my body did not start working. I was put on a tampon to trigger me but it didn't work. I saw the mothers arrive after me and leave with their baby, while I had been there for almost 2 days!
I was finally triggered almost 60 hours after the water loss because Samuel's heart was slowing during the contractions so we went straight to the oxytocin trigger. Samuel was born 10 hours later, so there were 70 hours between the rupture of the pouch and his birth. Samuel did not cry when he was born, he was in respiratory distress. In the minutes that followed my son was removed from my arms to quickly transfer him to the neonate.
He was like a rag doll
Samuel was born at 3:39 am, we could not see him until several hours later, while the medical team stabilized him. When I saw him again there were wires everywhere, electrodes, gastric tube, Cpap, screen, syringe rickshaw … He was deeply hypotonic, like a rag doll.
At first, the pediatricians thought Samuel had an infection since there was a long delay between water loss and birth. They did gastric cultures, Sam had his first lumbar puncture not even 18 hours of life.
The first 24 hours were horrible, the doctors did not comment on anything, I found myself in my room in the maternity ward alone, without my baby, it was terrible. Just seeing the transparent cradle in the bedroom was so difficult, the midwife took it away from me as did the changing pad on the care table. My partner spent the first night with me. He is a nurse in this hospital and when I asked him if our baby was going to be okay, he answered me "I do not know".
Sam was not breastfeeding, he feverishly opened his eyes to 2 days of life.
48 hours after birth, the cultures returned negative. The infectious cause being ruled out, the doctors then considered the neurological or genetic cause, Sam then had an MRI, EEG, ETF, several ultrasounds and a fundus.
All exams returned to normal.
A karyotype was also requested.
We then waited for the karyotype results.
The feeling of falling into a bottomless hole
Samuel began to eat better, we managed to feed him about 50% with a nasogastric tube and 50% with a bottle. We were then told about a return home soon. 3 days before this date, the neonate calls us to tell us that the pediatrician wants to see us. We are received in a room with the doctor, the nursery nurse who takes care of Sam, the psychologist and the head of department … We are then told that Sam's karyotype is not good, he has Prader-Willi syndrome.
This announcement had the effect of reto have a cinder block on your head, or fall into a bottomless hole.
We returned home from home hospitalization with an appointment scheduled for September to begin monitoring Sam. It's been a tough summer but it was so good to meet together at home without a doctor all the time, we finally felt like parents.
It was at this point that we took on the difficult task of announcing the disease to our families in the best possible way, that is, not by phone but by explaining it to each member in person. We don't want Sam to be seen as a syndrome until he's seen as a baby.
Prader Willi, a complex disease
Hypotonia, later acquisitions
Sam's genetic disease is a deletion of chromosome 15 which codes for the hypothalamus and pituitary gland, the parts of the brain that manage, among other things, the body's hormonal system. This disease is manifested at birth by feeding difficulties and hypotonia which remains quite severe during the first year of life. It also causes a delay in acquisitions (holding the head, sitting, walking later). For Sam, for example, sitting attire is not yet fully acquired at 16 months. The walk will surely take longer to acquire.
Our little Samuel is 16 months old today. Little by little he is braving hypotonia. He has started to hold his head feverishly every now and then since he was 6 months old. His physiotherapy sessions are tough but he is progressing. It's hard and tiring yet Sam keeps a smile! He's a cheerful, happy, cuddly child.
Overeating, an inordinate appetite
Difficulties in feeding at birth persisted until Sam's 10 months, with bottles lasting up to over an hour at times.
Prader Willi syndrome is a very complex disease, it expresses itself very differently from one person to another. The aspect that most handicaps those affected is the absence of satiety. This genetic addiction to food begins in early childhood (usually around 2 or 3 years old but sometimes earlier or later). In addition, the metabolism of affected children changes when they are 2 or 3 years old (before the onset of binge eating) and they begin to gain weight without increasing their nutritional intake. From this point on, a meal is "profitable" for them about 30% more than for a person without Prader Willi.
Samuel is still young but every day we are closer to the moment when binge eating will wake up and never leave it (some signs are already starting to appear).
A syndrome … of symptoms
Samuel's disease causing major dysfunction of the hormonal, growth, thyroid system, Samuel has thyroid treatment and growth hormone bites every day. Recently, he was also diagnosed with a corticotrope deficiency, hormones that manage stress. We have emergency treatment at home if needed.
As during a polysomnography he was diagnosed with severe obstructive apnea syndrome (OSAS) – Samuel does 25 apneas per hour! – our son has been equipped since his 10 months Sam with a Cpap (non-invasive ventilation) at night to compensate for his apneas.
The disease affecting all acquisitions, this also concerns language. However, Samuel has said a few words since he was 14 months old, and also signs (in French Sign Language) a little.
In order to help him in his acquisitions, Samuel began physiotherapy and psychomotricity at 5 months at the center for early social medical action (CAMPS) in Bourg les Valence. Samuel also regularly consults doctors, endocrinologists, pulmonologists, ophthalmologists, ENT specialists, etc.
Today there is no treatment to cure Prader Willi Syndrome.
Samuel Exceptional
But despite everything, for nothing in the world I would not trade my son who makes me see the world through new eyes. He taught us to refocus on the essential, forgot the trivia, and just be happy.
Our close family circle is very present to make the most people aware of Prader Willi syndrome. My sister-in-law is at the origin of the collaboration of a small team which took part in several races for "a small step for Prader Willi syndrome".
We have also created a page Samuel Exceptional on which we share Samuel's daily life. This page allowed young parents lost after the announcement of their child's diagnosis to contact us. We understand them, we listen to them, we reassure them and we try to guide them as best as possible if they feel a little abandoned medically.
For more information on the syndrome or to make a donation for research there is the site http://www.prader-willi.fr.
Thanks to Sandra for her testimony
Edit
Samuel is now 4 years old and his mother continues to give her news on her Facebook page Sam's little world. And, great news, Samuel will soon become a big brother!
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