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Archive for the ‘Max’ Category

How did everything go so wrong???

Friday, January 22nd, 2010

I should be planning Max’s first birthday party or picking out a stroller for Nicholas but instead I’m planning a funeral and picking out a burial gown.

Some known causes of Bilateral Renal Agenesis

Sunday, December 20th, 2009
Through my own research which has primarily been done by searching medical journal databases as well as some text book reading (though this is my least preferred source of information because I’ve found the information to be outdated), I’ve put together the following list of syndromes (with corresponding gene or chromosome) that are known to cause bilateral renal agenesis. The list is not complete and the syndromes listed do cause other birth defects.

  • Branchio-oto-renal Syndrome (EYA1, SIX1, SIX2)
  • Di George Syndrome (deletion 22q11)
  • Hypoparathyroidism, sensorineural deafness and renal anomalies (HDR) Syndrome (GATA3)
  • Fanconi anemia (DNA repair)
  • Fraser Syndrome (FRAS1, FREM2)
  • Kallmann Syndrome (KALL1, FGFR1)
  • Nail-patella Syndrome (LMX1B)
  • Pallister-Hall Syndrome (GL13)
  • Rubinstein-Taybi Syndrome (CREBBP)
  • Rokitansky Syndrome (WNT4)
  • Trisomy 7
  • Trisomy 10
  • Trisomy 21 [Down's Syndrome]
  • Trisomy 22
  • Ulnar-Mammary Syndrome (TBX3)

These are all known syndromes that can be confirmed by genetic testing. Furthermore, it is possible for pre-implantation genetic diagnosis (PGD) to identify affected embryos. Genetic material collected from your unborn baby via amniocentesis (from 15wks) or chorionic villus sampling (CVS) (from 10wks) can also be tested for these syndromes.

The following are syndromes in which I’ve found limited information indicating babies born with these disorders may also have bilateral renal agenesis.

  • ? Meckel-Gruber Syndrome (17q23)
  • ? Smith-Lemli-Opitz Syndrome (11q12-q13)
  • ? Renal + Retinal Coloboma (PAX2 gene on 10q24-25) [*see below]

I have been in contact with a professor in the UK who has been doing a lot of research into renal development.  He gave me a copy of a journal article he wrote which was published in 2008.  His research found that 37% of the bilateral renal agenesis babies in his study also had a mutation of the RET gene. The RET gene is on 10q11.2.

* Following the birth of my son Nicholas, our geneticist spoke about a genetic link between retinal colobomas and renal agenesis.  The affected gene is the PAX2 gene — I will add more details as they unfold but at the time of writing this, we are waiting for postmortem results and may not have the final report until June 2010.  Post-mortem did not find any evidence of retinal coloboma.

For further reading, see NCBI: OMIM – Renal Adysplasia

Also, see TheFetus.net though this is a medical website presenting cases and articles as a teaching tool for ultrasound practitioners, doctors, etc. Contains images that some visitors may find disturbing.

——————————————-

I will continue to update this page as my own research uncovers further information.  My aim is to provide USEFUL medical information regarding the possible causes of bilateral renal agenesis for other mums in the same situation as myself.  Please feel free to leave a comment if you have any questions.

I had a dream.

Thursday, December 3rd, 2009

We have a study with a big desk for our computers.  One wall is lined with six foot bookcases filled mostly with my university textbooks and lecture notes.  On top of one of the bookcases is a box with a picture of a teddy bear on the lid.  It holds the few things I have for Max; an album of around 20 photos, a dried white rose from the arrangement my grandmother sent, my hospital ID bands, my antenatal clinic card, the little teddy our neighbour gave me for him after Klaus helped to jump start her daughter’s car, his cot card, the little memory book containing his hand and feet prints and the blue quilt that he was wrapped in until I had to give him back.

It’s now 4am as I sit in that study at one of those computers.  I’m awake because I had that same dream again.  It’s the one where I walk into this room and instead of the bookcases being filled with my uni books and notes, it’s filled with dozens of those memory boxes.

If you’re fond of sand dunes and salty air

Saturday, February 28th, 2009

It’s been another emotional rollercoaster week. I’m going to cut parts out and skim over others but essentially, this is how it played out…

My husband drove down the coast on Monday night to bring his mother back to Sydney for her scheduled surgery on Tuesday. While he was there, she had a transient ischemic attack (mini-stroke). At one point she stopped breathing and had no pulse. It was only his quick action and medical training that saved her life. Given the all-clear by a swag of doctors, she had her surgery and is due home again today.

We visited her in hospital on Thursday night and due to the girlie-nature of her surgery, her room was in the middle of the maternity section. I don’t do too well when confronted by that sort of thing so I specifically asked if anyone else would be there, and was told no, but when we arrived the brother-in-law was there as well. Anyway, my relationship with the brother-in-law has been strained over the last few years (ever since the day he stood in my kitchen and had the audacity to tell ME to “get a life”; this coming from the man who wasn’t working and has few friends and no interests beyond drinking wine and watching tv) and more so since the birth of our sons. Anyway, the mother-in-law went on a tangent about not being able to pick up her grandson post-surgery healing stage. I didn’t need to hear this. Why not just say “I’ve been told not to lift stuff” rather than “I’ve been told that I can’t lift my grand children, they’ll just have to climb up onto my lap, I could get a little rope and they could pull themselves up like this etc etc etc etc etc etc etc etc etc etc”.

The husband seems to think that the reason his parents don’t really acknowledge Max or our feelings about him is because they didn’t see him and therefore don’t register the reality of our son. Today when he collects his mother from the hospital and takes her home, he is taking Max with him. Or at least, he’s taking Max’s ashes, his photos and the book containing his feet and hand prints.

I’m not expecting much to come from this but it would be nice if they could understand that while we lost our son five months ago, it feels like it happened yesterday. I just want a little empathy from them. I want them to understand that it hurts me a lot when they prattle on about babies and that they don’t ask me how I’m coping since losing Max (they ask my husband, but never me).

Ok, enough – it’s time to change the record.  Besides, I need a tissue.

Work… I work a major teaching hospital in Sydney. The powers above are blocking our recruitment efforts to save money. We advertised one part-time position in December and interviewed in January.  We found two fantastic applicants. Although our request to recruit was approved, those jerks have stalled the criminal record check stage of the recruitment process so they can “save money”.  We have explained that our need is great, that they approved this position back when we had 2 FTE staff on board.  Now we are down 1 FTE, both of our 0.8 FTE nurses are on leave (guess who is giving patients their blood results; got demarcation issues??) and have two new specialists on staff, and five additional clinics to run. Do the math. They did assign a temp to me and while she is GREAT, she is still very new to the role and everything she does must be checked. She also has a couple of medical issues and often needs to leave early, start late, etc. It’s going to take a couple of weeks to get her up to speed. So those government jerks don’t recognise that while they are “saving money” by delaying recruitment, they are forcing one person to do the work of 2.5 FTE staff without taking into account the increase of clinical staff and activity. To get through the workload, I’m starting early, working through lunch, leaving late (I did 9hrs of unpaid overtime this week alone), getting run down, am unable to take sick leave, and subsequently providing a half-arsed service to our patients.  I’d just like to take this moment to say “Fuck you Labor government”.

I’ve got a lot to do this weekend: a few hours of coding a shop cart modification for a web client, a couple of chapters to read for uni on contract law re franchising and licensing, and four songs to practice before my next piano lesson on Tuesday night. Not bad for someone who doesn’t have a life.

Random tidbits, in no particular order

Saturday, February 21st, 2009
  • Piano lessons are going very well so I bought myself a little treat:
  • I have had a very productive week as far as knitting goes. I’ve finished the lacy pink and black scarf and a pair of uber cute black Converse Chuck Taylor booties. I’m keen to cast on again but I have no idea what to make next. I’m seriously considering knitting baby items to sell since learning that one of the knitted soakers I made for a friend’s baby fetched over $30 on ebay. And that was as a second-hand item! Not bad for $4 worth of wool and a couple of hours in front of the tv. My thought is that I’m going to knit anyway, I might as well make a little money doing it. And it could provide a nice little income when (if) I’m (ever) at home with a baby.
  • Uni starts up again on Monday and I’m quite excited about it. I’ll be taking Commercial Law first up, which looks pretty interesting. Best of all, unlike previous law texts, the textbook isn’t massive; it will actually fit into my regular handbag so I won’t have to carry a separate bag around with me.
  • Work was better this week. I have another assistant and she is awesome. The first assistant they gave me came from the temporary staffing pool was relieved from her position after being one hour late on five consecutive days, calling in sick on her sixth day, late again on day seven, then failing to show up or call in on the day eight. Assistant V2.0 is enthusiastic, intelligent, proactive and professional. She’s also wickedly funny and makes an excellent cup of tea.
  • Gossip from the ‘hood: A couple of days ago my Korean neighbour side-swiped my other neighbour’s late model green car with their little white shitbox. They exchanged a good amount of paint and did a substantial amount of damage then DROVE OFF! Today they parked their shitbox on the street again but didn’t even attempt to hide the green paint on their own car. She confronted the neighbours but they pulled the “sorry no english” thing, just as they did when I confronted them about flicking cigarette butts onto our lawn. Needless to say, she has taken plenty of photos and involved the police. Ahh, it’s all good in the hood.
  • Today my sister and I bought a fabulous variety of birthday presents for our very spoilt and completely gorgeous niece. She turns one tomorrow. Where does the time go?
  • While exerting an incredible amount of self-control, I was able to walk straight past the huge Easter egg display at Big W today without pushing my thumb through any of the eggs. I did, however, attempt to hurt a Terry’s Chocolate Orange as part of my personal protest against the combining of hated fake ORANGE flavouring with much loved CHOCOLATE, only to be informed by my sister that said Terry’s Chocolate Orange is actually solid not hollow, and therefore impervious to my thumb. The force is strong with this one.
  • I really don’t like my new Remington electric razor. My old one was great but this one is so rough on my skin. Damn you Remington *shakes fist*
  • Max’s due date was last Friday. I had really hoped to be pregnant again by now but it obviously wasn’t meant to be. I’m getting really tired of all the deliberate glances towards my belly. Fortunately I’ve managed to lose all the baby weight plus one kilo so there’s nothing to see.

3

Tuesday, December 23rd, 2008

It’s three months today since I lost Max… and that’s all I have to say about that.

Baby update

Friday, December 12th, 2008

We were suppose to go back to the birthing unit on Tuesday morning to get Max’s chromosomal test results. I phoned the day before to confirm and asked if they had any results to give us, knowing that they didn’t. They located a doctor to give me the results over the telephone and she said the histopathology done on the placenta showed no abnormalities, which we already knew. She then went on to say that there “wasn’t enough specimen collected” from Max to do the chromosomal test. Err, wtf?? I told her that our geneticist had spoken to the lab and was advised that the specimen had grown a fungus in cell-culture and due to that contamination, they were unable to do any further testing. She mumbled something about that being correct and we ended the call. Why do doctors presume I’m an idiot that they can lie to? Do they really think I’m just going to meekly accept whatever bullshit story they spit out? The radiologist pulled the same crap on us when we had the morphology scan — instead of telling us what was wrong, he gave me a line about there not being “enough” fluid and sent us off to read the damn report in the carpark. Mother fuckers.

So, we were thinking trying again this month and had mostly decided to go ahead when I got a call from the geneticist. When we last saw her, she said she wouldn’t call me unless there was something wrong. Now she wants to see me, without the husband, next Thursday afternoon. That’s a few days after I’m due to ovulate and now I don’t know whether we should just go ahead blindly or delay another month. I just know that if we do delay, the geneticist will probably say something like “oh your tests were all fine, have a happy life” but if we try to conceive, the geneticist will probably say something like “oh for the love of humanity, cease and desist from all attempts at procreation as your genetic make up is such that all of your babies will be horribly disfigured and/or missing major organs”.

Can I get a break?

Something about nothing

Sunday, November 23rd, 2008

We received some more bad baby news this week. My brother’s wife’s sister is pregnant with twin girls and is due two weeks before my own EDD. Sadly one of the twins has died. There’s all kinds of complications involved now and I really hope that everything works out ok for mum and the surviving baby. It just goes to show that life is really very fragile and nothing is guaranteed until that baby is out and in your arms.

Today marks the two month anniversary of losing baby Max, and while I’m ok about this right now, I’m also a day or two off the end of my TWW. I’ve had a three BFN so I’m not holding out much hope that we’ll get it this time around. I have to keep telling myself that it’s ok if we don’t conceive before my EDD because this time really belongs to Max. If it is suppose to be then it will happen when it happens, right?

Since deferring my university studies this semester, I’ve been using all of this delicious free time to knit knit knit. I’ve just started Elizabeth Zimmerman’s garter stitch baby blanket in a pale blue. It’s a pretty cool little pattern but it required a provisional cast on which I’ve never done before. After googling for lots of how-to videos, I’ve finally mastered it and now feel like I’m king of the world!

I’ve also been knitting various items to give to the birthing unit to replace the items they gave us for Max. The little gown he wore was really too big and I thought I might be able to make something to fit these little 16-22wk babies. After roadtesting lots of different patterns, I’ve settled on an “Angel Wrap” which is a one-piece garment that has an attached bonnet and a front that laces up with ribbon. I prefer the ribbon lace-up patterns because it allows you to pull the laces a little snugger to make the garment a better fit on a smaller baby. I want to knit one more of these angel wraps and two little hats before our appointment at the birthing unit early next month. In truth I’m actually expecting a phone call from the birthing unit saying not to bother coming in because there are no results to be had from the chromosomal testing. Maybe they’ll prefer to tell us that in person? Who knows?

Waiting for you

Saturday, November 15th, 2008

The same week I lost Max, I heard Regina Spektor’s cover version of John Lennon’s “Real Love” for the first time. I heard it again during the week and predictably went to pieces.

Real Love by John Lennon

All my little plans and schemes
Lost like some forgotten dream
Seems like all I really was doing
Was waiting for you

Just like little girls and boys
Playing with their little toys
Seems like all they really were doing
Was waiting for you

Don’t need to be alone
No need to be alone

It’s real love
It’s real, yes it’s real love
It’s real

From this moment on I know
Exactly where my life will go
Seems that all I really was doing
Was waiting for love

Don’t need to be afraid
No need to be afraid

It’s real love
It’s real, yes it’s real love
It’s real

Thought I’d been in love before,
But in my heart I wanted more
Seems like all I really was doing
Was waiting for you

Don’t need to be alone
No need to be alone

It’s real love
Yes it’s real, yes it’s real love
It’s real, yes it’s real love…

If it doesn’t break your heart

Thursday, November 13th, 2008

The counselling sessions are helping but the one thing that has helped us the most was seeing a genetics specialist. One of the doctors I work with asked her to see us as a favour and instead of having to wait almost a year for an appointment, she agreed to see us last Friday. She has ordered lots of tests including renal ultrasounds to make sure we both have two kidneys each. Apparently if one of the parents has one kidney, there’s a fairly high chance that their babies will have one kidney or none at all. If she finds that we both have two kidneys then she has put our risk of having another baby with bilateral renal agenesis at 3%. There’s no tests that can be done to detect it early except weekly ultrasounds from 10wks to check for the amniotic fluid and the morphology scan at 18wks. There’s also no way to test genetically for it because they haven’t identified the genes yet. And speaking of genes, right in the middle of the consultation, the geneticist suddenly thought of another place the baby’s specimen could be and after a quick phone call she had located the sample and had an answer for us. It turns out that the sample was sent off to another lab for cell culture but instead of growing cells for DNA testing, it grew a fungus. So the specimen couldn’t be used and that was the end of that. We were disappointed but also very relieved that the sample wasn’t just lost.

After a long consultation and a lot of tests (8 tubes of blood, no wonder the first vein collapsed!), the geneticist basically said “try again”. We’re scared it will happen again but at the same time, we’re excited because she is the first doctor to really give us the ok to try again. And so there you have it. I cried a little over the weekend and again on Monday afternoon (after an insensitive comment from the pregnant girl at work) but haven’t cried since. The counsellor has helped me with some visualisation techniques to help deal with the possibility of not conceiving and further miscarriages.

Ultimately, the husband and I have agreed that the five months that I was pregnant, right through to having Max was a very happy and positive experience even though it didn’t end the way we wanted, and we are willing to risk the pain and sadness again for the chance to have another baby. There’s been a lot of growth and grief-shedding in this house over the last couple of weeks!