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.

Wednesday, September 5, 2012

The Niggles

Hello my little Angel.

Wow its been a while since mommy has written to you, I really need to get to this more often !!

The last few weeks have been a little on the tiring side and I say tiring because you have been a little bit ... okay a lot on the niggly side. Last week I rushed you to the doctor cause your breathing was a bit off, but I wasnt told that you had been crying quite a lot - and in that case your airways close up a little and you get that croupy ragged kind of breathing. In any event I took you to the doctor, I wasnt going to take any chances. We didnt get to see your doc so had to settle for seeing his dad, who is not a bad doctor at all - I guess I just like to be in our comfort zone. Fortunately it was "only" a serious case of congestion and post nasal  and NOT a serious case of pneumonia and in your case an ordinary post nasal is serious, so there was no need for a hospital visit, but a need for MORE meds ....urgh !!! So it was back to nebulising you with adrenaline and pulmicort but this time it just didnt seem to work, so two days later back to the doctor and yay we got to see your doc  - Not sure why but you always manage to want to visit him on a Wednesday when he isnt there :-) so we always have to go back again !!!

You werent sounding any better and the congestion was really really terrible, I was pretty convinced that we would be making a trip to the hospital, but you have held yourself well and proved us wrong again. At the moment you are on 12 different medicines per day to your normal 3, and things just werent looking up. Our doctor is kind enough to keep a script at our pharmacy for us in case we feel we ever need an antibiotic and are unable to see him, so daddy and I made the call to use that script and hope and prayed that whatever you have is bacterial and not viral. If it is viral your little body needs to fight it because the antibiotics will not help, BUT we are super excited to say that within 1 and a half days you are so much better - whoop whoop for mom and dad - like grampa will say - me thinks you qualify to be a doctor just from practical experience - hahahahaha.

 I have also been stressing terribly of late because your sisters have been in contact with another little girl who has had measles and you have NOT been immunised against it and I am so afraid that will take its toll on you and lead to the inevitable :( so mommy called the doctor and he has told us to really "pump" you with vitamin A - 10 000 iu to be excact and so far so good. I am really hoping and praying right now that if you havent got it now you will not get it. Please Lord dont let my little boy get it.

Some other exciting news .... It has been a really uphill battle to find other Trisomy families here in South Africa. We know Miks mom, Aunty Tat and Mia's Mom,, Aunty Nadia and thats pretty much that. I genuinley thought that you were the oldest of only 3 surviving babies in South Africa. WELL the other day I found out that there is a young lady in Newcastle with full T18 who is now 27 years old - how awesome is that !!!!!! and finally mammas are coming out in the open that their children, being earthly angels or heavenly angels have T18 - it is soooo awesome and i just have to say that I will be forever grateful and forever bound to Aunty Tat - who has just always been an inspiration to me since the day we first spoke.

So that is all for now my sweet little pumpkin pie - love you forever and a day !!!!!

Lots of Love