Monday, November 16, 2009

What to believe?

After having called the neurosurgeons office in Århus several times, the doctor finally came back with a written evaluation on the MRI scan, which she had looked through as well. Contrary to the doctors at Rigshospitalet (Denmarks biggest university hospital in Copenhagen) she found that Sebastian has a tethered cord. Actually, the 'filum terminale lipom' (fatty tissue in the end of the spine) which the doctors in Copenhagen called a 'casual finding of no importance' does indeed seem to be of importance. It is the tethered cord in itself, and being a casual finding or not, it needs to be addressed.

We are still trying to learn more about tethered cord, but one thing stands out: if it is not dealt with as early as possible, it could lead to irreparable damage of the cord, resulting in total loss of bowel, urinary and leg control. Whether or not the neurosurgeons will chose to try to untether the cord by surgery, we do not know. Right now, with Sebastian being 'dry' during day-time, one of the main symptoms seems to have gone away for now. It hopefully buyies some time.

We are of course very eager to get a consultation with the neurosurgeon in Århus, and hopefully we can go and see her - and ask our tons of questions - very soon. Upon mentioning this new diagnosis, and not least how we had to dig it up ourselves, to our primary doctor (the hemathologist), he now wants an explanation from the neuropeadiatric team at Rigshospitalet: why would we have to fight to get a scan in the first place, why was it not performed immediately, and why did they not detect the tethered cord? We can hardly wait to hear the 'specialists' answers ;-)

As we are going to see the growth doctor next week, we are of course preparing questions to her as well: is it still 'safe' to stretch Sebastian so to speak with growth hormones, when the growth spurt is possibly tethering the cord? The problem is that the growth doctor most likely do not know anything about tethered cords, as well as neurosurgeons most likely will not know anything about growth hormones. We will see.

On a positive note we went to see the surgeon who descended both Sebastians testicles. They have both stayed in place, which is great. The surgeon had found them to be VERY small, and could not promise that we will not encounter fertility problems ahead, but we already know that fertility is very rare in FA patients. Having both testicles down makes it easier to examine them, which was our initial goal with descending them.

The latest bloodwork showed still relatively stable counts. However, both platelets and white blood cells were below the normal ranges, only with a little, fortunately. We have a new appointment in three months time.

For the PGD, we will have another try starting out in December (the November cycle of course collided with the clinic-holidays). We cross our fingers that we will succeed - I am longing to become pregnant again!

Apart from our rather full hospital life, we are having a good life in Ørholm. Marie-Louise is doing great in her creche, and she has started to form words and small sentences. Many of the word she forms is still mystery to us, most of it is certainly chinese ;-) She loves to cuddle now which goes very well with Sebastian - and us of course! Last week Marie-Louise finally broke the television code, and she now watches Teletubbies (oh no ...) and a little bit of childrens tv. At her age, Sebastian had his first 20 or so DVD's which he couldn't live without. The two of them are just SO different. Which is very funny and interesting to watch.

Sebastian is doing great in kindergarten as well. He loves it when he can play with Frederik, Sofie and Tue both in kindergarten and at home. For the time being he is very much into playing Wii Mario Cart - a great exercise for his thumb - as well as Lego Star Wars. He has a great imagination, and loves to play.