Deep down in the jungle

It has been a while since I have updated on Sebastians medical issues. Mostly because it seems like a jungle - which can be difficult to describe in details. However, here is a try:

Whether Sebastians cord is tethering is still an open question. In Copenhagen the doctors clearly says 'no', whereas the doctor in Århus - after having studied the axial MR-images of Sebastians spine - now says: 'the filum terminale is situated within the nerves, and not in the middle (as it should be). Therefore, at any progression of symptoms, surgery should be offered'. We opted for a third opinion, and was very lucky to get one from a very kind neurosurgeon in England. He also did not find any tethering of the cord, and suggested to look for other explanations for Sebastians symptoms. For now we will just wait and see, and observe if we see any change in Sebastians ability to control bladder and bowel. Right now he has wet diapers two thirds of the nights, and only has the occassional accident (big or small) during daytime. We can certainly live with that.

Talking about bladder-control, we are also still observing the phimosis-development. The surgery to correct this in January was successfull in the sense that Sebastian has peed without pain and blood since then. However, the phimosis is still there, however not causing trouble for the time being. The surgeon who did the surgery in January wants to wait and see, but finds it likely that we will have to do a follow up surgery sometime in the future to prevent serious atresia like the one we saw last December.

Tuesday this week, Sebatian was in GA for a couple of examinations of his intestines. When Sebastian was almost 2 years old, he was hospitalised for serious constipation. A doctor then suggested that Sebastian could have Hirchsprung disease, which is a rare disease of the colon. As we did not believe that Hirchsprung in combination with FA could statistically be possible, we did not push forward for the rectum biopsies which had to be done to confirm the diagnosis. Since then Sebastian has been on daily lactolosis and now also laxoberal drops to make the food pass, and despite this his eating has - like many other FA-kids - still been very sparse, and very non-varied. A peadiatric surgeon suggested to make biopsies both for Hirchsprung and of Sebastians duodendum (a gastroscopi with biopsies), also taking into account that Sebastian has had surgery for duodonal atresia when he was newborn. A new atresia could be the reason for Sebastians poos intake, and now beginning lack of weight gain (has gained less than half a kilo in a year).

Sebastian did great with the GA mask. He is - understandably - not very fond of the idea when he has to take it. But over the last 16 months, where he has been under for now 7 times, we have established a procedure which Sebastian can live with: Dad (Tue) must carry him to the operation room, and dad must hold the mask for him while talking of Star Wars evil figures. On Tuesday it was general Grievous, the one with the four light-sabers. Sebastian did remarkably well, and was calm in the arms of Tue. We really hate to have to do this with Sebastian, but together with him we have found our ways. The second part of the 'agreement' is that when Sebastian wakes up, a sack (preferably sown by me on my sowing machine!) should lay on top of his blanket, with a surprise gift inside. If this does the trick, then fine with us. This time we had bought the Lego general Grievous starfighter, which is already built and up and flying in his room.

The surgeon had not seen anything unusual on his way down Sebastian, and the old place of surgery in the duodendum looked fine, and was not blocked. Great. The answers of the various biopsies we will know in a couple of weeks time.

On the same day as we will have the answers for the biopsies, we will do an x-ray of Sebastians neck. A third doctor, who is knowledgeable of cranes and heads, did not find Sebastians ability to rotate his neck satisfactory. In order to rule out anything connected to this (e.i. Klippel-Feil syndrome - which I find unlikely, but we will see), a couple of x-rays will be done on the 26th of August. The same doctor saw on another x-ray done in April of Sebastians crane, that the sutures are still open which is good. The crane can then still grow, without the risk of causing hydrochephalus. Not that the crane is growing much, but that is yet another history… However, the x-ray also showed signs of intracranial pressure (impressions digitatae), which probably (!) has occurred at an earlier stage. The doctor calmed us down by explaining, that intracranial pressure mostly presents itself with vomiting, headaches etc., which we do not experience with Sebastian as of now.

The pediatric neurologist department is trying to evaluate Sebastian on all of these more or less subtle findings together with a general evaluation of his mental and physical development. None of the specialists we have met in this field has been very thorough with Sebastian and with their clinical examinations of him. Nonetheless, after our recent visit in the neuropaediatric clinic, the professor of paediatric neurology ‘concludes’ in the journal that Sebastian is both developmentally and physically much behind, and that he thinks that Sebastian will have to go to a school for children with special needs. The professor tops off his assessment by questioning our ‘allegation’ of FA being related to a high risk of cancer, and high risk of cerebral tumors. The professor questions this as part of his argument for not scheduling follow up MRI-scans of Sebastians head and spine, despite the many findings. This entry in Sebastians journal clearly indicates to us as parents that Denmark definitely is too small a country for this rare disease!!!

On the developmental side, we will now ask for accredited tests to be performed, so we can figure out what school-choice will be the best for Sebastian. Yes, he might need extra support in school, but maybe not to the extent of what the professor concluded after two minutes of examination of Sebastian. We will see.

Oh yes, and then we have the hearingimpairment. Sebastian has since he was 6 months old worn a BAHA-softband hearing-aid. This turned a severely hearing-impaired baby into a very well-articulated young boy, who has a vocabulary and a sense of language more mature than his age. All along the audiologists have wanted to change the BAHA mono sound (there was only one aid, placed on the forehead) to ‘normal’ ear-hangers, which could give Sebastian stereo-sound, which makes it easier to orientate the sound. Until this Summer the ear-hanger project has been delayed, as the VERY narrow ear-cannals did not leave much hope for success. However, on the 6^th of July (the day after Sebastians 6^th birthday), Sebastian was offered the ‘Rolls Royce model’ of black ear-hanger hearing aids, from Oticon. Moulds have – despite very narrow cannals – been produced and fitted on a pair of Oticon Agil Pro aids. Sebastian willingly tried them on, and his first comment was: “Now I can much better hear what my girlfriend Sara tells me”, and secondly: “Now I can hear the birds sing”. Apparently birds have never been singing in Sebastians head up until now! Although the ear-hangers sometimes fall out of his ears, and although the ears hurt a bit in the beginning, and although Sebastian does not fully masters the art of applying the aids in his ears by himself (as of yet), he is VERY fond of the new aids. Contrary to the old BAHA-band, the new aids span a bigger range of sound (instead of stopping at 6000 hertz, the new aids ‘hear’ until 10000 hertz), are digitalized (which equals better sound quality) and give Sebastian stereo-sound instead of mono. We are all very thrilled with the new aids, and asked whether he wants to use his old band again, Sebastian answers with a loud and clear ‘no’. In the first couple of weeks after the new aids, I could not help talking rather loud when I spoke to Sebastian. Old habbit would, that seeing that he was not wearing his band, I would need to speak up to get in contact with him. Now I am slowly getting it, but it still feels as though he forgot to take his ‘glasses’ on. Something is missing ;-)

And on a final note: we have now started on our fifth PGD attempt. Egg retrieval will be around the 4th of September, and we will see if the eggs are as badly behaved (not following statistics and not resulting in pregnancy) as the last rounds. We have not given up hopes yet, but are planning to have a word with the HLA- department, to get hold of some of our questions related to the donor situation. We feel as though we cannot go on with PGD endlessly, yet at the same time are very aware just how hard a decision it will be to stop the attempts. For now we are very thankfull for having the opportunity to give it yet another try.

Well, the medical stuff certainly keeps us busy. And the updates too long! However, I will try to update on our family life in general very soon (and upload photos from our Summer here in Denmark), as it is definitely more interesting that this ongoing medical safari in the jungle!