ENT update

So I was previously writing about how our audiologist, who is the best in the world, suggested checking Fi's hearing every 3 months. I kind of alternate between her and the ENT, so she gets seen every 3 months, but only every 6 months by the same person. So she got her grommets at the end of November and to my biggest shock, we discovered last week that one of them is already on the way out, the other one is still OK. No fluid on the side where it's out though, pressure is normal and she passed emissions on both sides really well.
So I have asked Dr. Pauli what he thinks we should do, as he had said aggressive treatment before, so I just needed to know how aggressive: he is saying to monitor hearing every 3 months and should fluid return, go for a more permanent solution. I suppose in the US they would do T-tubes, which is not something our ENT is open to due to the higher risk of perforation, but she did recommend titanium tubes, which can stay in for 2-3 years, although I have read at least 2 studies which states that this is not the case...
So anyhow, for now she can hear well, we will see the ENT mid June and take it from there. I am sad that soon she is going to have to have another surgery, I suppose the older kids are, the harder it is on them. I am also super paranoid about fluid building up and impacting Fi's hearing and us not noticing it, as that was the case last time, and I was observing her so carefully. So, I will not have her vaccinated before the ENT visit, just in case she needs surgery in the next 6 weeks or so... Which wouldn't be good because we will be heading out for our holidays...

May 12, 2011

was the day when the life we knew, ended. For a man of such few words, my husband can define things so   precisely. He says that on May 12, 2011 when we were told that there would be something wrong with our baby for sure, and she may even die, we entered a new dimension... I suppose we all live in parallel worlds, but since I have kids, I thought that my life was mostly parallel to all the other semi-boring suburban mothers' life (before I used to feel like I was a UFO, but that's long over). Anyhow, I took great comfort in fitting in and conforming; it made life a lot simpler. And then this other life that knew nothing of, started. When you are faced with the unthinkable, you become a different person, you think and feel things that you never knew were there.

I thought today would be a hard anniversary, that all the pain and confusion of that day would hit me. But it didn't, and the reason for that was that we have an adorable baby who is nearly a year old now...

Rhetorical question of the day:

Why does someone become a pediatric orthopedic consultant if they hardly even look at a patient? I realize hospitals in Ireland suck, they are busy, dirty, a bit like a horrible zoo really, but wouldn't you want to make a difference?
When he reviewed Fi's x-rays he actually said that he wouldn't think that her x-rays belong to someone with HCH as her bones look all normal. Yea, this is why hypo goes undiagnosed until kids are 2 or even older... Can't wait to see him again in 6 months...
I asked him 2 test questions, both answers were incorrect, so none of our ortho questions got answered today. Lucky we will see Dr. Standard in October...

Ear tubes, set 1

I cannot believe that I didn't post here about Fiona's ear tube surgery back in Nov. I better do it now, as there is more to come on the ENT front and it will only make sense that way. Here is the original post about her first hearing test, which she passed, but it already showed signs of middle ear dysfunction. Our audiologist, who I think is the BEST audiologist in the world, was very knowledgeable about skeletal dysplasias and their potential impact on hearing and she suggested a retest every 3 months. This is actually a lot more pro-active than what Dr. Pauli suggests, who says: "Behavioral audiometric and tympanometric assessment, first at 9-12 months of age and at least yearly throughout early childhood." Anyhow, I followed Sandy's advice and returned with Fi at the age of 5 months for another hearing test, where there was evidence of fluid in the pressure test bilaterally and she promptly failed her emissions on both sides too. Now this was a real shocker to me, as I have 2 other children and watch Fi like a hawk and I could have never said that she couldn't hear well. So I have armed myself with the results and Dr Pauli's hand-out and saw an ENT, who was first pushing for hearing aids - that's what they seem to do a lot of for kids with Down Syndrome in the UK, who similarly to our kids are very much at risk for middle ear infections. However after reading Dr Pauli's handout, she agreed to do the grommets, even though the youngest patient she has ever had was 10 months old. The surgery was completely uneventful. I have given them this handout about anesthesia for children with achondroplasia, as the same can apply for hypo and they were very receptive and reviewed it in detail with me. Her hearing was immediately back to normal following the surgery and she started babbling a lot more within a week or so. Sandy offered to do a quick check on her (free of charge!!!) every 3 months just to be sure that she can hear well.

11 months old

Update on the BioMarin clinical trial

Without any comment, worth reading: http://www.growingstronger.org/drs-wilcox-and-krejci-blog.html

It happens to be

my birthday today, but please don't wish me happy birthday, it's very kind of people to do so and lots of family and friends called me and texted and sent silly messages on FB. But I am really not into the whole thing of celebrating a year going by. Don't really understand why people do that over the age of 18 or 21... Anyhow, but now I am acutely aware that a year has gone. I have been thinking about this all last week in fact.
It was on Wednesday April 13th 2011 that the sonographer measured Fi's femur and said that it was very short. She called the fetal medicine director in who said to measure all the long bones and they were all on the short side, some of them below the 5th percentile. He said to come back to a rescan in 4 weeks, but he thought it was still in the normal range.
I knew in my heart of hearts then that there would be something going on...