We sat in Outpatients 1, after staring blankly in to the pond outside for 10 mins as we were early, and the time whilst we were sat there just seemed to take forever to pass!!!! Each minute felt like an hour... We quite boringly went through the Wills and Kate wedding edition of Hello magazine, which I had read already, and we commented on some of the most ridiculous things we had ever spoken about... Then my name was called... with a gulp and a deep breath I took Hoff’s hand and went in to the room...
After the introductions with the specialist and the brief update of our family trees... She started with the genetics lesson... Kyd has Robertsonian Translocation DS ...
Definition: A special type of chromosome abnormality caused by two individual chromosomes joining together to form a new fused chromosome called a translocation. Only certain specific chromosomes can form Robertsonian translocations -- chromosomes 13, 14, 15, 21, and 22. If a number 21 chromosome is involved in forming a translocation, this can cause Down syndrome.
In my case the faulty gene was part of 15 and 21 which had morphed into each other to create a translocation... she’d drawn me a picture... Which was a good thing, as the whole thing was worrying my tiny little brain so much that I couldn’t think!
The 15/21 gene issue was quite a complicated one to get my head around; I don’t think I’ll ever fully understand it. I thought I just had a gene that caused Down Syndrome... but no... I had other things to think about. When she said the word ‘Miscarriage’ I just panicked in my head all I thought was ‘omg I can’t even carry a baby let alone have one’ I did start to panic, I started to realise this was more serious than I first thought and that it was going to be harder than I realised to even fall pregnant and keep hold of it.
What she said after that was something that broke me slightly more inside than ever before. ‘You are at risk of a few other disabilities, Prada Willie and Angelmans Syndrome...’ this ended in a long pause. I had no idea what they were. So I asked. I wish I hadn’t because the info was too hard to take in and I could feel myself welling up. I looked at Hoff’s face as he squeezed my hand tightly and he looked horrified. He was just a normal guy, with a normal family, looking for a normal future... then he met me and now he had no chance of a ‘normal’ future let alone a ‘normal’ baby, he was so desperate to be a daddy too, I just wanted to scream. I pulled myself together and listened to what she had to say and then asked what I can do to prevent this or fix it or just try and be successful in pregnancy....
She said there were tests I could have during pregnancy and treatments I could have that could screen my eggs for the healthy eggs... the whole thing was so confusing. She gave me some leaflets to take away as she didn’t want to overwhelm me with facts & figures. She also gave me her phone number so I could call her once I had taken all the news in... I don’t think I’ll ever take that news in. I don’t think I’m ready to take it in. I don’t think that Hoff really understood what was being said either.
As we left the room Hoff said ‘are you OK?’ I just nodded as that was all I could do at the time. We began the walk home and when Hoff asked again ‘are you OK?’ I just broke down, in the middle of the street. I couldn’t speak I just cried and cried. I knew I needed to get it out but once I started I couldn’t stop. When we arrived home I just sat. I just couldn’t speak. I just waited for Kyd to come home from school for the biggest cuddle whether he liked it or not. Hoff was also quite quiet. He was just leaving me to get my head round it but I think at the same time he was trying to get it in to his head too. He hasn’t really said much about it to me but I think it’s because he doesn’t want to upset me. I think that deep down he’s as hurt as me. He wants a baby, I don’t think he cares if it’s a girl or a boy but I know that he cares that it’s healthy and that we aren’t going to struggle with a diagnosis after birth. I know he wants the tests doing just as much as I do. I know this because he has not spoken about not doing them but only about what we can do. Generally he doesn’t talk about these things as he thinks they’ll upset me so my way of knowing what he’s thinking even when he’s not expressing it, is to listen to what he’s not saying, rather than what he is... I just hope he isn’t too disappointed with my genes... or me... and I hope he doesn’t run away.
Prader-Willi syndrome is a congenital (present from birth) disease that involves obesity, decreased muscle tone, decreased mental capacity, and sex glands that produce little or no hormones... Symptoms may include:
· Almond-shaped eyes
· Delayed motor development
· Floppy newborn infant
· Insatiable appetite, food craving
· Irregular areas of skin that look like bands, stripes, or lines
· Narrow bifrontal skull
· Rapid weight gain
· Skeletal (limb) abnormalities
· Slow mental development
· Undescended testicles in the male infant
· Very small hands and feet in comparison to bodyAffected children have an intense craving for food and will do almost anything to get it. This results in uncontrollable weight gain and morbid obesity. Morbid obesity may lead to lung failure with low blood oxygen levels, right-sided heart failure, and death.
What is Angelman Syndrome?Angelman syndrome is a genetic disorder that causes developmental delay and neurological problems. The physician Harry Angelman first delineated the syndrome in 1965, when he described several children in his practice as having "flat heads, jerky movements, protruding tongues, and bouts of laughter." Infants with Angelman syndrome appear normal at birth, but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6 to 12 months. Seizures often begin between 2 and 3 years of age. Speech impairment is pronounced, with little to no use of words. Individuals with this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause severe functional deficits. Angelman syndrome results from absence of a functional copy of the UBE3A gene inherited from the mother.
What is the prognosis?Most individuals with Angelman syndrome will have severe developmental delays, speech limitations, and motor difficulties. However, individuals with Angelman syndrome can have normal life spans and generally do not show developmental regression as they age. Early diagnosis and tailored interventions and therapies help improve quality of life.
Hope that helps... yeah I still don't really get it either!