Partial Trisomy 16p+
Here is an update on our little Samual, now 3.
Samual was born back in February, 2000 at 7lb 15oz. Born with a floppy larynx we nicknamed him squeaky. At days Samual and I were released from hospital and on our way to what we thought would be a perfect world, especially after being told at the age of 22 after having both of my fallopian tubes cut during an emergency appendectomy, I may not have been able to produce children. On leaving Hospital with Samual he had lost weight and being told by the nursing staff that was quite a normal thing for babies in there first week. Two days later I attended my first Maternal Child health check with Samual, only to be told that he had lost still more weight. Advised to eat nuts and cheese to help with my milk supply I did just that (however there was plenty of milk there). Being a first time mother and all, I just did what was advised to me.
Three days later I went back for another weight check with Samual. again only to be told that he was now down to 4lb 3oz. I was advised by the Maternal health centre nurse to put him on the bottle as my milk was not enough for him. I knew there was plenty of milk but also knew in my heart there was some other underlying problem.
I then rang my local GP (also a very close friend of mine). When arriving at the GP I was told that our little Samual probably has what is known as Cystic Fibrosis and that he was going to be admitted into hospital for testing. We went straight there.
Samual was now 21 days old and finally aloud to leave hospital after extensive testing to find out why he was not gaining weight. After being told that he had Cystic Fibrosis I lost my milk completely, as would any mother being told there child has a terminal illness. Well we were released again from hospital and ready to start again. Seven days later we had our little boy dedicated to the lord. Three weeks after being discharged from hospital we had a follow up appointment with the respiratory doctor. My husband (Michael) and I thought this was just routine, only to find out that when we arrived there was again more disappointing news. Our son had also been diagnosed with an extremely rare, in fact only person in the world listed with an unbalanced chromosome translocation of chromosomes 3 and 16. Both Michael and I were tested to see if the translocation had come from either one of us. It was found that Michael has a balanced translocation of the 3rd and 16th chromosomes. We were then referred to a pediatrician. More testing....Samual at the age of 18mth began an early intervention program. At the age of 11mths Samual sat alone for the first time. We were told that because of the delay in sitting he would probably not walk until he was around 4y/of or if he would walk at all because of the severity of his hypotonia (weak muscles). At 2 years and 7 days old our little boy walked 12 steps across our lounge floor. Samual is still attending the early intervention program once a week for 3 hrs where he gets Physio, speech, O.T and also gets to interact with other children with Special needs. Samual also has 45 mins a week of private speech, and will soon visiting an O.T once a month. Samual also visits an orthopedic Specialist once every six months for his inturned feet, he walks on his inner ankle, and is now wearing special shoes to correct this. Samual has also in his short life had many stays in hospital. Samual has undergone many surgical procedures including, a Nissen fundoplication, for severe Gastro-reflux, broncoscopies, gastroscopies, a division of his severe tongue tie and also tonsils, adenoids and a uvulectomy.
Samual is now 3 years old and beginning to communicate well thru makaton signing and some verbal talk. He confidently tells everyone that "my daddy home". When actually his daddy is at work. To look at our little man he does not seem to have anything physically wrong and we have many people comment on how preemie he was, but in actual fact he was only 8 days early. Samual is said to have a head shaped like that of a preemie child.
Mentally Samual is now around 12-15 mths developmentally delayed, but enjoying life to his fullest as we are with him. He is a delight to all and is bringing much joy to all who come in contact with him.
I have learned thru all that we have been thru with our little man to be strong as He is a gift from God and we are only looking after him for the time he is with us and in doing that we will give him our all.
Remember we are all drawn to this world by the colours we are given.
UPDATE MARCH 2004
He has just started at pre-kinder and just loves it.
We would love for you to publish Samual's story in your magazine at some time. Samual in the last 12 months has been diagnosed with atonic epilepsy and is currently on medication for this.
He is right into the TV show Brum about a little yellow car who chases baddies.
And he is still bringing great joy to our lives.