|Hello, my name is Simone-Lee Angove, and my Finance’s name is Jason Smith. I am writing this letter to advise you of a very rare genetic disorder my family has.
It is called “X Linked VACTERL with Hydrocephalus.” The VACTERL part of it stands for:
2. Anal atresia
7. Limb Abnormalities
And the Hydrocephalus part of it is a build up of fluid on the brain, in which the head keeps growing to accommodate the fluid, which in time compresses the brain tissue (which, of course, you already may know).
I inherited this disorder from my great grandmother, who passed it on to my grandmother, who then passed it on to my mother, who, of course, passed it on to me.
My fiancé and I have lost two little boys in the past nine months due to this disorder. I carried our first baby for 26 weeks and then started bleeding; so I went to the hospital, and that’s where they told us, from doing an ultrasound, that our baby had hydrocephalus, abnormally flexed arms and hands, and malformed testicles.
We were advised to induce my pregnancy due to the extreme build-up of fluid on the brain, and based on what damage had already been done, the doctors, specialists, and neurosurgeons explained to us that our baby would die before or after birth, or, if he did live, what sort of life would he have? Jaylee was his name. Jaylee weighed 730 grams and was 30.5- cms long. Jaylee was dead on delivery.
Since then I have been pregnant again, and a very similar situation occurred, but this time they picked up on it on my routine ultrasound at 19 weeks (which, of course, does not make it easier). This baby had the hydrocephalus but also had transposition of the heart, radial aplasia (no radius bone in his arm and no thumbs, meaning his hand started from the elbow). He also had no anal passage and only one kidney. He was a lot worse than our first little boy, and we were advised again to induce the birth of him. Bobby-Lee was his name. Bobby-Lee weighed 150 grams and was 22 cms long. Bobby-Lee was also dead on delivery.
We did not know it was genetic until we compared our babies with the two my grandmother had and the one my great grandmother had. My mum has five girls, but she had two miscarriages, and the specialists think they most likely were boys.
Since then the Director of Nuclear Medicine and Ultrasound got into the Melbourne Data Base of rare disorders and found out this disorder is the one I told you about above.
The disorder only occurs if you have bad genes on one of your “X” chromosomes we were told. I have a female cousin who has a side effect of the VACTERL part of it, which is tracheoesophageal fistula; and the specialists think she will have the same problem as me.
I am also very worried because of my other sisters. I have an older sister who has recently had a healthy baby boy. I find it very hard because it’s not fair it happened to me, but I would never wish this on anyone, especially my sister. They say my mother could have given my sister her good “X,” but I still have three other sisters to worry about. But they will be tested before they have children, which will not be for a while as they are only young yet.
The next time we go to try for a child I have to have a CVS (Chorion Villus Sampling) at 9 weeks to see if it is a boy or a girl, and if it is a boy, we have to wait until 12 weeks to have a detailed transvaginal ultrasound. However, if it is a girl, we really have no need to worry.
The specialists have told us we have a 50% chance of carrying a healthy baby boy and a 75% chance of carrying a healthy baby girl. But as you can see, the odds have been against us so far. But we are not going to give us, as the Director of Nuclear Medicine advised us that the other families with this disorder have only had two pregnancies like ours and then have gone on to have healthy babies.
We were told there are only two other families in the world with this genetic disorder in the database; they are American Indian and Italian.
Having a healthy baby for us will be like hitting the jackpot; we will eventually get there, and we are not giving up until we do!
Our children will never be replaced, never forgotten, always loved and cherished! If love alone was all it took, our two little boys would be here today. But the memories we have are so special and dear and will remain in our hearts throughout the years.
Our two little men were very much loved and wanted babies, and even now we think, “Did we make the right decisions?” But Jason and I never wanted our babies to be in any pain. And like every parent, all we ever wanted was healthy, bouncing babies.
Well, I better be going, but if anyone knows anything about this disorder, please write to me and inform me. I think knowing everything helps rather than not knowing anything at all.
My address is: Simone-Lee Angove
137 Hinkler Drive
NERANG OLD 4213