I just wanted to share my story with you about our special little man Samual.
Special child of mine:
Born 6th February 2000.
A long awaited dream for Michael and I to finally have our own child. Born 7lb 15oz at 08:29am.
At 6 days old Samual and I were discharged from hospital and Samual had dropped his birth weight, which we were told was quite normal.
At 21 days old and many trips to the Health Centre Samual had managed to drop from his birth weight to 4lb 3oz. A quick trip to My GP and Samual was sent to Monash Medical Centre and admitted suspecting he had a condition called Cystic Fibrosis.
After 12 days in hospital with Samual being prodded and poked and being placed on a medicated formula, which helped him to gain weight and also Genetic Chromosome testing, Samual and I again were discharged from Hospital and ready to start again.
At 8 weeks old I returned with Samual to Monash for what we thought was a follow up check for the stay we had had and to find out the results of the tests taken during that stay. That was when we were told that Samual suffered from what is called a strider (floppy larynx, squeaky breathing). But then in the next breath we were hit with the devastating new that our son had a Genetic Disorder, an Unbalanced chromosome translocation on chromosomes 3 and 16. Chromosome 3 triplicated and missing a large portion of the 16th Chromosome.
We asked the Genetic team at Monash many questions and the only answer we were given was that Samual was the only person listed in the world with this particular genetic abnormality and that he would be globally Developmentally Delayed.
We have since been told that this was actually incorrect and that Samuals 16th chromosomes are actually normal although where the 3rd chromosomes should be and that his 3rd chromosome is missing a piece and he has an attachment of a 3rd 16th chromosome attached to the top and is actually in the place where the 16th chromosome should be.
Samual Suffers from Hypotonia (floppy muscles), Epilepsy, Kawasaki Disease (where the heart valves dilate), he also has a small heart murmur, suffers from Asthma, has moderate to severe speech delay, has a condition called pseudomonas (where he has become resistant to antibiotics) and has also had several operations in his short life including, a Nissan fundoplication, to stop him from vomiting due to severe gastro-oesophageal reflux, tonsillectomy, uvulectomy, adenoids removed twice and has also had 3 sets of drainage tubes (grommets) Due for his 4th set soon, and several other hospital stays due to pneumonia and breathing difficulties.
Samual has just turned 5 years old and is attending Pre-School this year.
At the first diagnosis of Samual’s conditions we were told that Samual would possibly not walk due to the low muscle tone in his body, yet at the age of 2 years Samual took his first steps across the lounge floor to his Daddy when he arrived home from work one evening. We were also told that Samual would not talk either as he was not a chatty baby, but at the age of 2 ½ Samual began babbling and calling everything he saw and pointed to da da or do do. And now can sign if he we cant understand what he is trying to tell us. This babbling went on until he began speech pathology at the age of 3 and now at the age of 5 is saying most words a child of his age would be saying however with some difficulty.
After speaking with the Genetic team at Monash on a few occasions both Michael and I were advised that in our best interest it would be un wise to have future children due to the Chromosome abnormality that Samual has and that for each child that we had after Samual the chances would be that the missing pieces of Chromosomes would possibly miss more and that we could go on to have a severely abnormally genetic make up child or children in the future. However after attending a seminar at the Royal Children’s Hospital in Melbourne one evening this was said to be not as true as we were originally told.
We then decided to have some counselling and spoke with the genetics team and also our GP and decided to attempt having at least one more child. So Michael went in for a Vasectomy reversal.
It has been nearly 2 years of trying to conceive our second child. We have spoken with our Doctor and have had testing done and have found out that we have only a 2 % chance of conceiving naturally, and that it would be a miracle if we were to ever conceive naturally. We have also been told that I.V.F could be an option however there would be risks there also. When told this we were already 6weeks pregnant with our second child. But is was not meant to be and we went on to miscarry.
So it is intended that Samual is our only child at this stage, and possibly will only ever be our only child.
We believe with out a doubt that Samual is a true blessing and Gift from God. As it has been medically proven that any mix up with the 16th Chromosome, which Samual has, is to do with Miscarriage and medically should not have been carried full term or even born.
But we know that Samual was to be born as God planned him.
Samual is a wonderful and joyful child, he loves to do all the things most little boys love to do….play in the dirt, play trucks and cars and of course he just loves Thomas the Tank Engine and Brum. Samual has been learning to Swim for the past 18mths and has just passed his 2nd level in individual swimming, however due to recurrent ear infections he is now unable to continue in this area of sport.
Samual has a great nature and finds it easy to make friends and loves to shake hands with new people that he meets. Samual always has something caring to say and is said to have wonderful manners. One of his favourite phrases is ……â€excuse meâ€â€¦just to get your attention, even if he doesn’t say anything after he has your attention.
Samual has a contagious smile and an infections laugh.
What else could parents want for their child but a heart full of love and joy?
Samual is very much loved and is truly the Joy of our lives.
We can only thank God for the miracle of this little boy, who is affectionately known as “SQUEEKYâ€.
The number of prayers that are sent to heaven for this little boy have all been answered as the Dr’s said he would not walk…. He is running….he would not talk…..he is singing…..he would not learn….he knows….
He is running toward the lord…. he is now singing songs of praise…and he has learnt scriptures from the bible and can resite them when asked…
.
We still believe we will one day be blessed with another child. However it will not be our planning but that of the Lord.
Our love to you all for your Prayers, Support and Understanding hearts.
But most of all we can only Thank God for His miraculous Blessing over our lives for giving us all what we have already.
Remember: Like a rainbow, we are all drawn to this world by the colours we are given.
Be blessed.
Nola Ellis,
As seen thru a mothers eyes and shared thru a friends heart.
special child
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