Letters to Lior

Trsiomy 18

There are 23 pairs of human chromosomes. In Trisomy 18 (Edwards syndrome), there is an extra chromosome with the 18th pair. Like Trisomy 21 (Down syndrome), Trisomy 18 affects all systems of the body and causes distinct facial features. Trisomy 18 occurs in 1 in 3,000 live births.It is three times more common in girls than boys. Unfortunately, most babies with Trisomy 18 die before birth, so the actual incidence of the disorder may be higher.Infants who survive, experience serious defects and commonly live for short periods of time. Trisomy 18 affects individuals of all ethnic backgrounds. Trisomy 18 severely affects all organ systems of the body.The majority of children who are born with Edward's syndrome do not live past their first year of life. Their average lifespan for half of the children born with this syndrome is less than two months; approximately ninety to ninety-five percent of these children die prior to their first birthday. The five to ten-percent of children who do survive their first year experience severe developmental disabilities. Children who live past their first year require walking support and their ability to learn is limited. Their verbal communication abilities are limited as well, although they are able to respond to comforting and have the ability to learn to smile, recognize and interact with caregivers and others. They can acquire skills such as self-feeding and rolling over.

Thursday, January 30, 2014

Tired tired tired

Hello my precious little Angel

 Wow it really has been a long time since mommy has written to you, I really must make more of an effort to get on here at least once a week,

There is so much yet so little that has happened but the one thing I do know is that it has been tremendously tiring for all of us.

We all had a good Christmas, even though you were a little cranky, but somehow it seemed you knew it was Christmas and weren't going to make it a niggly day for you or for anybody else. As sick as you felt you still smiled and loved everybody as you normally do. I cant really say the same for the day after though . Once again you weren't feeling great and mommy was unable to get hold of our doctor because he was overseas - lucky him :) - anyway we got some meds from the chemist and tried to do the best we could but there was no improvement. Fortunately the day after, your best friend - the doctor that is :), was back and was quite happy for us to bring you in. I guess both mommy and daddy knew that we wouldn't be going home and would be having another stay at the hospital. Wasn't such a long stay but 4 days is definitely long enough.

The last two or three weeks have particularly been tough on all of us, especially you. Somehow I don't think the virus you had in December completely left your body, even after all the treatment you had. You have been sleeping so much - now let me explain - normally sleep for you is pretty much non existent - but the last three weeks you have had sleeping marathons, anything from 9 hours to 26 hours ....... jip that long. Last week your little body just couldn't cope any more, you had so so much pain and no matter what we gave you it just didn't seem to ease any of the pain, not even the slightest. Your doctor was very concerned and said something serious is wrong - guess he knows how to put the panic right in to us - I understand where he was coming from, he has always been up front. His major concern was that you are sleeping so much and with you being almost 4 years old now, he was worried that you are at the age where .... well I don't even want to say it. He was concerned that you may be going into heart failure. Not the easiest of news to let sink in - not for anyone !!

With all the blood tests done your white cell count was incredibly low and told us that you had a severe and not so pleasant virus - pretty much something on the same level of swine flu.

We decided that we needed to have a heart sonar done so that we know what is happening. I guess I was really scared cause I wanted to know but I didn't want to know if my baby was slowly dying :( I kept fearing the worst, that they would tell me the leakages have become so much that you just cant cope. That your scoliosis is crushing your little heart and putting too much pressure. Through all this which I didn't even think about, your heart rate and saturation levels were really good.
The heart specialist came and we did the sonar. With great relief for us and I think also for the doctor. we were informed that your heart is normal. All the defects that you had seemed to have rectified themselves, ok let me rephrase that .... all your defects had been healed by God !!! Your heart is normal, the size is normal, the blood flow is normal and the functionality is normal. You are a trisomy 18 baby with the heart of a normal child. This was the best news ever. Instantaneously we felt the pressure lift. Instantaneously I had goose bumps. Instantaneously happy tears flowed.

We have been home for a few days now and I cant say that you are 100% better. Slowly slowly seems to be the way. We have a good day and then a bad day and the a just sleep through everything day. 

For now we are taking it day by day and step by step. Love you ever so much my little  monkey !!!