Some of you who read this blog regularly will probably remember this entry, where I talk about the devastating news that my husband and I received from the Genetics team at Birmingham Women’s Hospital. If Frankie had lived and been born, he would have severe mental and physical handicaps, so severe that they would be deemed “incompatible with life”. This would have been in addition to his cleft lip/palate and club foot. His cleft palate was very extensive, a good half an inch gap that went right to the back of his throat, so feeding him would have been even more of a challenge as babies born with the genetic condition he had almost always have problems feeding, so that on top of his cleft lip and palate meant that there was a very high chance he would have had to have been tube fed. It doesn’t bear thinking about.
The condition he would have been born with is so rare it doesn’t even have a proper name, and is called simply “Chromosome 15 Duplication Syndrome”. There are varying degrees of the condition ranging from mild to severe, but those born with it almost always have autism, severe mental retardation, they hardly talk and only have a handful of words, have seizures, need 24 hour care and can never ever live on their own and have a normal life. Many die suddenly in childhood of a seizure, and the oldest person recorded with the severe form of the condition lived till he was only 25, and he died of a seizure.
Very little information is available about the condition, such is the rarity of it. For example there is nothing at all about it from the UK apart from one factsheet on the Rare Chromo website – www.rarechromo.org – and the most I could find out about the condition was on a website called www.dup15q.org from the USA.
Even the geneticist we saw at Birmingham Women’s Hospital, Dr Denise Williams, said she had to read up on the condition before she saw me and my husband and research it before she saw us, which goes to show just now rare it is. From what I can gather had Frankie been born, he would have appeared healthy apart from his cleft lip/palate and club foot, unless he had heart problems as some born with the condition do. But as time went on he could have failed to have hit some major milestones, but even when that happens to babies who have Chromosome 15 Duplication Syndrome health professionals dismiss them not hitting their milestones by simply saying that the baby is just “slower than normal” and will catch up in time.
As the child grows older the full extent of Chromosome 15 Duplication Syndrome manifests itself with – they will have problems walking, talking, possibly have problems with their hearing, learning difficulties, mental retardation, seizures and they almost always have severe autism. Some are never toilet trained and have to wear nappies right into adulthood.
Frankie would have needed care 24 hours a day all year round for his entire life, and would never be able to live on his own. My husband and I would have been on tenterhooks all the time in case he had a seizure that killed him at any second. Our lives, and Frankie’s life, would have become nothing more than prison sentences. You can get time off from prison sentences for good behaviour, if you’re lucky, but there would have been no escaping this lifelong sentence for Frankie, or for us as his parents.
One thing is very clear we were told – as Frankie had a very extensive cleft lip/palate, a club foot and a nuchal odema measurement of 8.2mm when I was 28 weeks pregnant, all of this together meant that the extent of his disabilities – physically and mentally – would have been immense. A nuchal odema measurement of 5mm can raise some cause for concern, and the higher it is the worse the extent of the disabilities that the baby will have. With his nuchal odema measurement of 8.2mm, Frankie would have had no chance, and his disabilities would have been so severe that he would have been deemed “incompatible with life”. That is one hell of a harrowing thought for any parent to have to accept.
I am still reeling from the experts being able to piece all this together from the tests that were done on Frankie just after he was born, my amniotic fluid from the amniocentisis test I had and the blood samples that my husband and I gave for a genetics study called EACH, which was completely voluntary. If we hadn’t done any of this we would never known the full extent of Frankie’s condition, or what his life would have been like had he lived. We knew he would be born with a cleft lip/palate and club foot, and we were prepared for that. Those on their own would have been fine to deal with and could have all been fixed over his life. But those things with Chromosome 15 Duplication Syndrome would have been devastating for him, and for us. Interestingly a cleft lip/palate and club foot can be isolated on their own, but are also part and parcel of Chromosome 15 Duplication Syndrome and appear when there are problems with Chromosome 15, which is spot on in Frankie’s case. So the cleft lip/palate and club foot he had were not isolated conditions and were related to him having Chromosome 15 Duplication Syndrome.
So where does all this leave me and my husband when trying for another baby? We have been referred for genetic testing and counselling, that that will hopefully give us some answers as to whether Frankie’s condition arose “de novo” as an isolated one-off case or whether Frankie inherited it. I do know for certain from the blood tests that my husband and I had for the EACH study that the chromosome difference in Frankie was on the maternal part of his chromosome 15, although I have a normal chromosome structure. So my gut feeling is that this is an inherited condition, but this is something that the genetic counselling will hopefully find out. I am waiting to hear from the genetic counsellor for my area Jan Moore, who will see me and my husband and she wants as full a family tree and history as possible, along with taking blood samples again from me, my husband and possibly our parents depending on the family tree stuff.
Another gut feeling I have is that Frankie’s condition has arisen from my Dad’s side of the family. My first cousin (my Dad’s brother’s daughter) has a son who has just turned 18 who is severely autistic and can’t read, write, write or speak very well. He’ll never be able to live on his own and lives with my cousin and her husband. Frankie second name Enrico was after his Uncle, my Dad’s brother, who died age 21 in 1950’s in Italy of Asian Flu in the epidemic that occurred in the 1950’s. He also had congenital heart problems, several holes in the heart etc and this is also another sign of Chromosome 15 Duplication Syndrome.
Chromosome 15 Duplication Syndrome is always devastating and has profound effects when passed from the mother to the baby, but when it is passed from the father it is silent, so the child doesn’t show any sign of the syndrome at all. Which means that although my chromosomes are normal it is very likely that I am a carrier of the syndrome. Again, genetic testing will confirm this or rule it out.