TRISOMY INFORMATION We included this page to raise awareness of Trisomy as often the medical profession only tell you the diagnosis is fatal and Incompatible with Life. Through experience we are trying to explain the diagnosis, give families some facts, pass on links to other more comprehensive information and more importantly pass on our experience of our boys Lucas and Zakk. We want families to have a place to seek the truth and see the real faces of trisomy, the beautiful faces of Trisomy. We hope in that raising awareness of Trisomy, families are then making informed choices. We believe if the medical profession does not give our babies a chance how will we ever know what they are capable of achieving.
Trisomy is a chromosal abnormality meaning the baby has an extra set of chromosomes. Most people say they have never heard of Trisomy and yet nearly everyone has heard of Down Syndrome - Down Syndrome is Trisomy 21. Trisomy 21 is the most common autosomol trisomy.
Chromosomes consists of 22 pairs of chromosomes, numbered 1-22 in order of size, and a pair of sex chromosomes, XX in females and XY in males, making a total of 46 chromosomes in each normal human cell. One X chromosome is inherited from the mother and the other sex chromosome inherited from the father is either X (baby girl) or Y (baby boy) and determines the sex of the child.
The egg and sperm each contain 23 chromosomes. When the egg is produced by the mother, the pairs of chromosomes in the egg cell split into two and only one of each pair remains in the egg. The same happens with the sperm cell. When a healthy egg is fertilised by a healthy sperm, the fertilised egg has 46 chromosomes and is the unique blueprint for the individual baby that grows. The extra chromosome may be in the egg cell produced by the mother or the sperm cell produced by the father and the additional genetic material affects every stage of the development of the baby. It has been estimated that as many as 95 out of every 100 embryos with trisomy 13 or 18 are lost in early pregnancy. It is not generally realised that up to half of all pregnancies are miscarried, often before a woman realises she is pregnant, and 1 in 5 confirmed pregnancies end naturally within 3 months. Many of these losses are caused by a chromosome abnormality, but a woman is unlikely to be offered chromosome tests to confirm the reason unless previous problems during pregnancy have indicated this might be a cause.
About 1 in 200 births result in a baby with a chromosome defect. The risk of trisomy increases with age, but most babies with these conditions are born to mothers in their early twenties because more babies are born to women in this age group. Except in rare inherited cases, chromosome defects are usually one-off events.
TRISOMY 13 also called Patau's Syndrome named after Dr Klaus Patau who first diagnosed the genetic aspect of the condition in 1960. Trisomy 13 births occur 1 in every 1800 pregnancies. Trisomy 13 affects equal numbers of boys and girls. See http://en.wikipedia.org/wiki/Patau_syndrome for prevalence, physical manifestations, treatment and prognosis.
TRISOMY 18 is also called Edward's Syndrome named after Dr John H Edwards who also first diagnosed the condition in 1960. Trisomy 18 are 3 times more likely to be little girls. Trisomy 13 and 18 is more common than Cystic Fibrosis and Muscular Dystrophy but still many have never heard of them. Trisomy 13 and 18 are deemed "Incompatiable with Life" and deemed fatal by the medical profession. From experience fatal has a whole range of experiences. See http://en.wikipedia.org/wiki/Edwards_syndrome for prevalence, physical manifestations, treatment and prognosis.
Lucas and Zakk both were diagnosed with Trisomy 18 Edwards Syndrome. Here is a story about Lucas :-
March is Trisomy Awareness Month and to honour our son Lucas Andrew Russell I will share his journey to life. Lucas is our son, he is a grandson, a great-grandson, nephew, cousin and my hero - simply the best person me and his Daddy have ever met and the priviledge was all ours. Lucas was born with full Trisomy 18, he was 5lb 1.5 oz, over 18 inches long, handsome with chubby cheeks, tiny nose, long dark curls, long legs and fingers, cute tootsies and the most beautiful eyes which bore his soul to the world. Lucas was born at 39 weeks and 1 day by c-section and came out fighting - so much for incompatible with life - he certainly was compatible with ours. Lucas lived for 6 days wonderful days we had him christened, we dressed him, we held him, we spoke to him, he met his Mummy and Daddy and the rest of his family, we met our son - we loved him and we felt his love. There is nothing in this world more you need, than to be blessed with the touch of an angel - Lucas is our miracle! We met our son and loved him and in turn he fought to stay with every inch of his body and soul. I will live the rest of my life on those 6 days and the miracle of them. When we found out at 28 weeks Lucas had T18 Edwards Syndrome our future with our son seemed shattered with no hope but we were wrong we lived the best time of our lives from that point on. Lucas was the most important being and bringing him to life was our purpose - and Team Russell did it together. I can not thank Lucas enough for the fight he took up for that I will be eternally grateful. Our babies are such an inspiration and teach us the most important lesson that love is to live - and through our blessings of Lucas we breathed for the first time all together - he is our soul our life and the world is a better place for having Lucas touch this earth. My son deserved his chance just like every baby and let me tell the world he grabbed his chance at life with both tiny little clenched fists and lived his life his way and his terms. We were told Lucas can not survive, he is incompatiable with life, he will not breath, he will not contribute to society - I am here to tell the World they were wrong. Lucas did survive but more than that Lucas lived! He opened his eyes, he was always breathing on his own, we felt his love, he looked into our eyes, he experienced family, he had a pee on the doctor (who was really impressed with his aim), he was nosey, he loved the women turning his head to hear the chatter, he lived his life on his terms and touched more lives than I can ever hope to achieve. Lucas changed minds about there approach to Trisomy babies - never will one doctor offer a termination in that moment when your world just fell apart, the termination will still be offered but a decision to be given much later when time has been given. They will not be so quick to offer all those dark statements about Incompatiable with Life but instead a more rounded view of Trisomy. Trisomy is not an automatic death sentence, there are children out there who live with Trisomy with varying degrees of medical condition. It is true that heart complications are the biggest threat to our babies lives. Lucas had 5 problems with his heart, he had a VSD, PDA, both valves in his heart were abnormal but all of these could be fixed and his first heart operation would have been offered in his first few days of life but Lucas had one other problem the Aorta Arterty exiting his heart feeding the lower organs was extensively damaged and twisted - this arterty was beyond repair. The Surgeon could have repaired part of the arterty but not the extensive damage that Lucas had - we have to live with the fact that no operation could be given to save Lucas but not because Lucas was Trisomy 18 but simply the damage was too extensive. That is not an easy part of living for me - I will never make peace with that but I understand why - what we did was give Lucas a chance and if only for that I think Lucas's chances were pretty good. I write that so that you understand that yes a Trisomy baby will have problems and some so damaging they are fatal to our babies even before birth but the Doctors can never tell us how much damage Trisomy has done and how much genetic material is abnormal in each cell. Therefore every child is different! Every choice is different for everyone but all I want is for people to understand the range of difference in each baby and the other side of the story as the Doctors do not have all the information. I want people to understand to Trisomy from all aspects and make an informed choice. The faces of Trisomy are beautiful, the babies are amazing, the spirit of these children touches your very soul and through them we can change the world - they are Perfect - Perfectly Inspiring. Lucas grew his wings on his due date Wednesday 9th September 2009 he truly was our 9 9 9 baby. Lucas arrived into the world and left the world on his terms his passing was hard fought, Lucas stopped breathing many times but he also fought to stay returning from many apnea attacks on his own with no intervention. Lucas slept away in my arms surrounded by his family willing the best for him and telling him we loved him. Lucas gave me the best time of my life his 6 days were miraclous and although my heart is shattered and broken beyond repair, I am not a victim, I am not a person to feel sorry for because Lucas was the best person that I have ever had the privilege to meet. Yes I have to live with the sadness that Lucas is not here with us and we miss him beyond words but every step is a step for Lucas and every step is a step closer to Lucas. Lucas has inspired me to create Angelversary and share the joy of our children - I will always speak his name, he is my son and will always be part of my life - always and forever Lucas Andrew Russell. To Lucas we will love you, we are thankful and blessed to call you our Son, we are broken hearted without you and miss you everyday of our lives. The hardest part of saying goodbye is saying it again every single day we wake up without you but I know we will see you again over that rainbow so until then me and Daddy hold you in our hearts that's where you always are my Lucas shaped heart x x
