What are special needs?
The story of a new life, the trials, tribulations and those he touches. Antonio's story - a guy with a crazy chromosomes. Arrived on this planet 1/4/2008
Mosaic 22 continued
So - back to the tale at hand.
So - Anthony is apparently mosaic trisomy 22, hmmmm - no one can tell us what that means today or tomorrow. The diagnosis that everyone at this renowned teaching hospital so wanted may have materialsied but to what end. What does this mean for my baby, for his future?
Well - nothing! it gave more places to poke and prod, but no new answers. Equally, by the time we came up with the diagnosis he had alrady had most of his tests, so our slightly quirky kid remains our slightly quirky guy. Some days bad, some days good - all days interesting and every diagnosis filled witha slightly odd description of our small trooper.
If anything the presence of an underlying genetic condition only seems to make people all the more wary of my son. Doctors certainly seem to expect an incredibly ill little boy whenever we are called into an appointment. Happily, most daysa remarably healthy looking Antonio appears and the doctors and nurses meeting him for the first time recheck his chart to see how this can be. I suppose we are lucky to be healthier than they expect as opposed to the inverse.
Everyone we meet (medically) needs us to explain Anthony's crazy chromosome. We have not had one doctor who has treated another child with similar issues, so hopefully we are a learning experience for all.
I started this blog after a particularly bad day, and I think that this proves theraputic for me to write down some of my frustrations. It also helps to document the emotional roller coaster that we have been riding since Anthony's issues were first discovered. It helps, and it still helps even if no one is reading.
I subscribe to a number of email lists for parents of children with some of Anthony's issues, and every day I realise that we are lucky! Lucky he is doing as well as he is and thankful for every day. We should really be as thankul for the good days of my older less medically complicated son. A medically fragile child reminds us all of the fragility of life, but the lesson is as valid for our heart healthy, chromosomally stable children as well.
Mosaic Trisomy 22 - so what gives?
Ah yes - the diagnosis - always good to start a story with a statement of the problem. Ironically in this story - that is the problem - although we have a diagnosis, we in fact have little else.
When our guy arrived he baffled everyone with his multiple right sided abnormalities and his collection of other subtle oddities all the doctors at the Brigham were baffled. At a teaching hospital - baffling is not always good and Antonio became the subject of test, upon test, upon test. Fortunately the vast majority were normal, but they kept poking and prodding nonetheless. Everyone wanted an answer, a way to classify the confusing set of symptoms on NICU C - chylothorax, minor right sided heart abnormalities, microtia, low muscle tone on the right side. After two weeks of hell and a baby who simply needed to be given a chance to eat and to stop being poked and prodded, we had started to accept that maybe there was no cause, or at least not a reason we could find out - and in the end we just needed to treat whatever the baby showed to be wrong.
At that point, at 5:30 on a Friday night my obstetrician came waltzing in to inform us that there was a result from the last test performed in utero (A test we did not know was happening, but why tell us anyway) and that it appeared Anthony had trisomy 22 in some of his cells - called a mosaicism - less than a third I think - and that we should talk to genetics - and with that she left.
WHAT?????
I left my husband beside the cot and went out to the internet only to discover that the cases documented there are quite dire. Death, severe retardation, severe limb disproprtion, severe heart defects and a laundry list of about 75 potential symptoms - many of which I could not even define. That a mosaicism translates to a lot of maybes and could be - but in fact little else.
What a way to start the weekend - the story continues tomorrow -
A most exciting Monday
Anyway - good start to the day and I have now spent the last 2 hours on the phone. First the MRI department, then cardiology, then the various contacts that they all need me to make on their behalf to transfer paperwork etc., etc, etc. TWO HOURS!!!! This is madness I really thought some of this was done for you, but now I realise nothing is done for you - you must do all of it yourself, and co-ordinating Antonios care is a full time endeavour.
But - on to updates from the short guy. He has mastered rolling, and rolling and rolling again. It is nice to not have him stuck, but a bit disconcerting that he might just be anywhere when left on his own, so watch out underfoot!!!
Next post - just what is going on with him anyway?????
C-
Antonio 101
Here are the stats on our unlikely star:
7 months old
16 and a half pounds heavy
around 2 feet long
generally congenial - but he like all of us has his moments.
suspected mosaic trisomy 22
Yes - the last line is the reason he gets the blog. Big brother Dominic will remain in healthy child anonymity, muddling through learning about life without a herd of specialists in tow (or are the best described as a bevy, or on some of the more dark days a murder??).
Anyway - Anthony, or as we refer to him in his virtual space - Antonio the mini warrior - currently provides us with a nice laundry list of classifications for the medically inclined - microtia, hypotonia, ASD, bi-lateral hearing loss, dysphasia, dermoid cyst and wait - I think that is him to date, however we are seeing more specialist soon - so watch this space. Anthony has a specialist for every symptom - quite a number of admirers when you cannot even sit up, never mind stand up.
We do not even know the full extent of what troubles await him - and if you are reading this I am sure you are thinking - what a trip - poor kid. But, as much as I may need to rant and release, never pity my little fella - he is a happy, relatively healthy, amazingly content small guy. I am realising that it is my time to reset expectations I was silly to have thrust upon him in the first place.
I need this space to work out things in my head, and if possible learn from others in a similar space and perhaps share a bit that might be of use to someone else. This blog is not going to be doom laden or pity filled - rather it is a story - a tale of a young life just starting, perhaps more differently than I imagined, but starting all the same. This is Antonio's song.
Christina - sleep deprived, but holding on
