What is Prader-Willi Syndrome anyway?
Prader–Willi syndrome (ˈprɑːdər ˈvɪli; abbreviated PWS) is a rare genetic disorder in which seven genes (or some subset thereof) on chromosome 15 (q 11–13) are deleted or unexpressed (chromosome 15q partial deletion) on the paternal chromosome. It was first described in 1956 by Andrea Prader (1919–2001), Heinrich Willi (1900–1971), Alexis Labhart (1916), Andrew Ziegler, and Guido Fanconi of Switzerland.] Characteristic of PWS is “low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviors, and a chronic feeling of hunger that can lead to excessive eating and life-threatening obesity.”
The incidence of PWS is between 1 in 25,000 and 1 in 10,000 live births. The paternal origin of the genetic material that is affected in the syndrome is important because the particular region of chromosome 15 involved is subject to parent of origin imprinting, meaning that for a number of genes in this region only one copy of the gene is expressed while the other is silenced through imprinting. For the genes affected in PWS, it is the paternal copy that is usually expressed, while the maternal copy is silenced. This means that while most people have a single working copy of these genes, people with PWS have a non-working copy and a silenced copy. PWS has the sister syndrome Angelman syndrome in which maternally derived genetic material is affected in the same genetic region.
Emphasis is my own. Thank you Wikipedia.
My head is spinning reading this. How can I explain Prader-Willi Syndrome and how it affects our lives? How do I explain Little Miss Adorable? Little Miss Adorable has Prader-Willi Syndrome. Every cell in her body has a partial deletion on chromosome 15, on the father’s side. We are actually pretty happy the deletion is not on the mother’s side, because that would mean Angelman syndrome (a completely different syndrome) and a high frequency of seizures.
The odds of having a child with Prader-Willi Syndrome are 1 in about 15,000. This is considered rare.
The odds of having two children with two completely unrelated genetic issues are astronomical. The incidence of Duchenne Muscular Dystrophy in the general population is 1 in 3500, this is considered common. The odds of these two unrelated events co-occurring (i.e. two kids with really different genetic issues being born to the same parents) are 1 in 52,500,000. We have hit the genetic lottery, big time.
What does PWS mean to me?
My daughter is on a seriously calorie restricted diet and cannot have food, even when she asks for it. Little Miss Adorable will cry for food, and we cannot give it to her.
Our lives are based on redirection and avoiding food situations. Family holiday meals? Forget it. Restaurants? Forget that too. Snack time at our readiness centre? Let’s play with your baby dolls instead.
Little Miss Adorable has regular meals that are precisely measured and consist of all food groups. She is monitored by a dietician, occupational therapist, and couple of pediatricians. People who see her crying for food think we are being cruel and denying her what she needs.
She has never had candy, cookies or ice cream. If we’re working with a very limited number of calories per day, there is no point in giving her something that will take up all her allocated calories and give no nutritional return.
From a behvavioural standpoint sweet treats are a slippery slope we do not want to go down. Why would we introduce something to her to only say you can never have it?
Prader-Willi Syndrome is a cruel paradox :
insatiable appetite + very slow metabolism +short stature + low muscle tone (and related tendency toward sedentary activity) = gain weight very easily. Losing weight is nearly impossible.
We do not want Little Miss Adorable to deal with the health issues of morbid obesity. Diabetes, hypertension, joint and spine problems – no thank you.
I want to stress that we are in the easy stage of Prader-Willi Syndrome. PWS consists of two stages – failure to thrive and ‘thriving too well’ or hyperphagia. We are between these points. We are moving into hyperphagia or excessive eating. Left to her own devices Little Miss Adorable will over eat. She has clear preferences – bread, pasta, milk. If there is food in sight she will demand it.
We keep food out of her sight. She eats in a high chair and our family has strict rules about not sharing food. At age 4 Mr. Sensitive knows that he can never give food to Little Miss Adorable. He is learning to not eat snacks in her sight. After every meal Little Miss Adorable is redirected to a preferred activity: playing with her baby dolls, bath, going out, or watching Elmo on youtube.
There are no second portions. Ever.
What does this mean for visiting our extended family? It means telling Grandpa to shut up when he starts asking Little Miss Adorable if she wants dinner, nummies, nummy-nums, etc… It means staying at a hotel instead of my parents’ place because they refuse to take the fruit bowl, pastries and bread off their kitchen counter.
What does this mean for us? We create new traditions. For Thanksgiving weekend we avoided all big family dinners and spent time hiking in local conservation areas. We looked at the autumn leaves, marveled at the fall colours and blue skies. We live our life, differently.
That is what PWS means to me – living life differently.