Finally

Better later than never ;-) I admit, the frequency of updates is not satisfactory. Life has been running in the fast lane, and there simply has been no time to put our news in writing.

First of all, we are all doing fine. Summer holidays have just started, although the Danish summer weather seems deceitful – rain, rain, rain. Actually the holidays started one day ahead, as the children raised a mutiny, and refused to meet at their ’jobs’ (kindergarten and afterschool center) for the last day. Instead, they played together in the house, and due to heavy rain, we chose to picnic underneath the bunk bed of Marie-Louise ;-)

Healthwise Sebastian is doing great. However, in May we had a very dissapointing experience, which cost yet another scar on Sebastians body. For more than three years now, we have been consulting with a lot of various specialists on why Sebastian – in longer or shorter period of times – has had trouble with controlling bladder and bowel. A lot of suggestions has been made, and a lot of things tried out – without much succes. Last autumn it occurred to us, that we could try to combine the pattern of incontinence with the changes of Sebastians medication for lack of growth hormones and thyroid level. And this seemed to make a clear match. Some time after augmenting the doses of either or both growth hormones or thyroid medication, he would start having accidents. Last summer it got very much out of control with up to 5-7 accidents per day. It seemed as though the extra stretch (growth spurt) from the augmentation, made for some tethering in the spine (probably of the filum terminale, on which Sebastian has a small lipoma).

With this knowledge we went to a specialist in Århus, Jutland, who the year before had diagnosed him with tethered cord, based on what she could see on MR-scans. It was not a conventional tethering of the cord, but a more special type, which is more difficult to detect, apart from the symptoms. Coupled with the incontinence/medication augmentation observations, she recommended a surgery, where the filum terminale were to be sectioned to ease the tethering. Ultimately, the tethering could cause permanent loss of bowel/bladder control, and maybe loss of the ability to use his legs. Not a very interesting perspective, although surgery in Sebastians spine was not on our wish list, to say the least.

Well, to cut a long story short: while the specialists at Rigshospitalet (the largest hospital in Denmark) for three years had refused to see any trouble on the MR-scans (4 in three years), they suddenly changed their minds in March, due to the new findings of the seemingly connection between the augmentation in medication and the incontinence. They also recommended a surgery to section the filum, and as Rigshospitalet is only 20 min. drive from our house we opted to have the surgery done at his facility.

Sebastian was not very keen to go, and it took a lot of persuation and some pulling to get him in the OR. He knows that this room in usually not good news. However, all previous surgeries have been succesful, and has helped him immensely, if we look in retrospect: the surgery for duodonal atresia, the hand surgery, the surgery for phimosis and the surgery for rententio testes. Our hopes were that this surgery could do the same for him.

The surgery took longer than anticipated, and we started to get nervous. However, after three hours we got the real surprise: the surgeon came to tell us, that the reason it had taken so long was that he could not find anything tethering in the spine of Sebastian. He had had to leave the wound open until one of his colleagues could come a conclude the same finding. After this extra consultation, the spine was closed again, and stiched up. They had also decided not to try to cut out the lipoma (which had been the plan as well), for biopsy, as there seemed to run a couple to nerves along with it, and sectioning it could possibly have been very harmful to Sebastian.

It took Sebastian a good week to get over the surgery. While going into the spine, the patient can lose some spinal fluid, which after surgery can give headache and naussea. He must have lost some, as he was feeling sick to his stomach for almost a week. Poor boy. Tue and I were so stressed out in the days to follow, because what if the surgery itself had caused some permanent damage, we would feel really bad, the surgery itself having not been a success. Fortunately, Sebastian started to eat again, and to move, and he could return back to school after two weeks of absence.

Right now Sebastian does not have problems with incontinence. However, he is not in a growth spurt right now, and we will have to see what happens when we are going to augment the doses of his medication the next time. All in all, we are just so relieved that we got Sebastian through the surgery ’in one piece’, and hope that we will never ever have to do a surgery in the back again.

A few weeks before the surgery we found out that I am pregnant again. After the last failed pregnancy which ended on the 1st of February, we had decided to give up on the PGD. We had not given up on the wish to have another healthy child, though, and we were lucky to become pregnant naturally real fast this time. I am now in week 16, with a due date in mid-December. In week 11 we had a CVS, which told us that I am carrying a healthy girl. Yeah! She is a carrier of one of the mutations, but so are both Tue and I, and this should not be a problem for her. Her HLA-type is unfortunately not a match for Sebastian, for which we knew the chances would be slim. But she is FA-free, and that is our first priority now. Fortunately Sebastian is still stable blood-count wise, and we hope this can last for a long time.

And by the way, Sebastian has just turned 8 years! He is such a happy child, with a lot of interests, especially in fantasy worlds. He has a lot of knowledge about Harry Potter, Skylanders, Magic Cards, Star Wars, Spiderman, Batman and all the other heros and villains of the world. I hope to be able to post some pictures of his big day sometime soon.

Marie-Louise is doing great as well. She is trying to hang on to Sebastians fantasy worlds, but try to give them a ’father-mother-child’ twist. ”Hey, Sebastian, what about if Trigger Happy is the father, then Stealth Elf can be the mother, and Chop-Chop their baby?” Although they sometimes disagree on the scope of the game, Marie-Louise and Sebastian often play together, and seeing them enjoy each others company is precious ;-)

We have a few plans with our tent for this summer, meeting up with friends around Denmark, but apart from this we will enjoy our time together and the (rainy!) summer in Ørholm. And oh, yeah, we have already started the count-down to Tues 40 years anniversary in early August ...