Welcome Julie!

I finally has taken the time to update on the news of the la Cour Marker Rasmussen familiy (thank you Rachel ;-)). And indeed, news we have:

On the 24th of November Julie entered our lives, and we all smelted on the spot when we first met her. The preganancy had been difficult, with lots of scans and tests done, because something seemed odd: small bleedings, extreme tiredness, scans showing an anormal placenta and - for some weeks - too much fluid. Bot nothing too odd - normalcy lies within a broad spectrum, I was told. We had decided for a planned c-section, as we did with Marie-Louise five years ago. We (and the doctors) did not want to test those (absent) labours again, as we had witnessed when giving birth to Sebastian and the little girl (in week 21) in 2006. So a date was set, on the 10th of December our new baby was to be born.

As the pregnancy progressed I found this date more and more distant, and feeling overdue I started to think that it would not be possible to get there. I therefore started to pack a bag early (and had it all sorted out on the 23rd of November!). The baby was very active, and all tests made us believe that she was doing fine. As we had tested for fanconi anemia already in week 11 (with a negative result), we felt confident that the bumps in the pregnancy were related to my age (41) rather than problems with the baby.

During the very early hours of the 24th of November, the water broke. This was a little month before due date, and I was happy to have the bag ready to go to the hospital. However, the midwifes were not at all convinced that the water had broken. They could not feel any water while examining me, and my suggestion to double check with a scan was put aside - I was just probably a little incontinent they thought! Well, the labours had not really started, and I could not convince anyone about the broken water, so we were sent home again. At home I felt more water coming and after a couple of hours we were back on the road again, this time with some occasisonal contractions. It took another couple of hours to get the hospital to understand that if we were to head for the c-section, it had to be organised here and now. And finally, after 9 hours of arguments, I was finally under the knife.

To make a long story short, it turned out that our baby-girl had her face in the wrong direction (a scan could have been helpfull here, but with the progressing contractions, time had become an issue) and the surgeon had to turn the baby around before he could get her out. A manoeuvre which felt like somebody was ripping my body apart, and everything turned a little hectic from there. At one point the surgeon looks at me over the cloth, trying to calm me down, his glasses and the big lamp behind him smeared with blood. Hmmm...finally the baby is out. But oh, oh so quiet. Tue is NOT invited to the doctors table, where they are examinig her (like he was with Marie-Louise), and only after a another long wait, we hear her crying.

Shortly thereafter we were told that she is pale, cold and a bit small, and needs a check up at the NICU. Tue leaves with her, and both of us has some serious and not so nice flashbacks to the birth of Sebastian. After a couple of hours Tue gets back to me at the recovery ward, telling me the good news that our little Julie is feeling better and warmer. She is a tiny baby, weighing only 2319 g (which is breathtakingly close to Sebastians 2320 g at birth!) and meassuring 48 cm. She is very slim, which the very poorly looking placenta seems to play a part in. After some testing in the hours to come, the doctors finds a VSD, one of the most common heart faillures found on newborn babies. However, very often, the hole between the right and the left chamber of the heart, closes by itself. We will see about this in the weeks to come. Overall, she is doing fine, and started to breastfeed within the first day of her life.

With Julie dismissed from the NICU, I started to recover from the hectic c-section. On the second night, an observant nurse finds big warm and red areas on my stomach, and I was started on IV antibiotics to get rid of the infection. Although I was given two different meds with 8 hours interval, the infection is still not under control after a couple of days, and it is decided that I will have to stay in the hospital. After 7 days I was finally ready to go home. However, Julie now had developed jaundice, and we had to stay yet another day for light treatment for her. Need I say, that at this point both Julie and I, but also Tue, Sebastian and Marie-Louise were fairly fed up with hospital, and with not being able to go home with our new family member. We finally got home, but with yet another round of antibiotics for me (and Julie because of the breastfeeding), a  lung-infection which had to be treated with antibiotics for Marie-Louise, the celebration of Marie-Louises 5 years anniversary on the 12th of December and both Marie-Louise and Sebastian going down with the flu from the 20th - 28th of December. As you can understand, it is only now that we are starting to feel a little close to normal again ;-)

Apart from this long, and way too long description of how Julie entered this world, I must tell you that she is love at first sight! Cute and calm so far, and a therapy in herself to cuddle. Both Sebastian and Marie-Louise are very sweet to her, and love to hold her. I have already a pair of very good helpers, especially when it comes to pushing the pram, but also - very surprisingly - when it comes to changing diapers. We have not witnessed any jealousy so far, but of course it will take some time for all members of the family to adjust to the new family dynamic. We will see.

We had a very nice Christmas (apart from the flu) with my parents and my sisters family, and had a visit from Tues brother and his family on the next day. Apart from this we have recovered from all the illness, and look forward to welcoming 2013, which will hopefully treat us well. We have a lot be thankful for, and are very relieved that Julie has now arrived in our family.

Happy New Year to you all!

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 ...

Our two fighters!

Sebastian and Marie-Louise are both on the Judo team now. Once a week they join a group of other kids and learn the basic judo moves.

Update

Spring is on its way, and we are all looking forward to seeing the sun a little more. Good news is that we have booked a week on Tenerife (Spanish island off of Africas Western coast) right after Easter. We are looking so much forward to having a little pre-summer there ;-)

Just before Easter we will have to go back to Århus for another MR-scan of Sebastians back. In autumn we finally got a little closer to why Sebastian kept having accidents (big and small), sometimes several times a day. It was a little annoying as he started school in August, and incontinence does not make socialising any easier. Well, Sebastian seemed not to notice much, and he made a lot of friends, despite his problems with his bowel and bladder control. By combining the charts from his growth and his 'accidents' there appear to be a connection between augmenting the doses in his growth- and metabolism (thyroid) medication. It seems as though that in the periods when he is 'stretched' more than the average (his growth is not a straight line, due to the medication) he gets the problems. On a chart it jumps to the eye. The neurosurgeon whom we are consulting in Århus is pretty sure that it stems from the tight fillum terminale (which is also a bit fatty) which can be seen on the MR-scan from 2 years ago now. To find out whether the fillum is still in the wrong place in his spine, we will have to make an updated MR-scan. If it still seems to be the case, the neurosurgeon will probably do a surgery in Sebastians spine to cut the fillum terminale, which should solve the problem with the stretching. The surgery will take place in late May, tentatively.

Right now Sebastian is not growing more than the average, and since November last year he has not had many accidents. For the last four weeks he has only had one, which of course is brilliant. On last weeks consultation with Sebastians growth doctor, we agreed that his medications will not be augmentet as long as we are awaiting the MR-scan and the conclusion of it. We will see.

Apart from this, both kids are doing good. Sebastian is happy about his school, and has learned to read! He read a bed-time story both for Tue and me last week. We are of course very proud of him ;-)

Marie-Louise is working hard on her pronunciation. Having had problems with her hearing due to fluid on both ears (and tubes x 3 to solve the problem), she is a little 'special' in her spoken language. We of course find that it sounds rather cute, and sometimes we do not even notice any more that she omits certain letters. However, she will start school in a years time, and we have to try to help her a little better now. It is especially the 's'-sounds together with a consonant that makes it difficult for her, and we a currently playing a lot of games where we have to say all the difficult words. Again and again. And again ;-) I am sure it will help - we just need some patience.

A month ago or so Marie-Louise learned to ride her bike, and we can now go on bike trips, all four of us. With Spring coming up, we will definately find places to go on two weels ;-)

Picture from our last bike-trip ;-)

Ready to hunt for beasts!

The cupcake makers in Ørholm

Hope is not - always - enough

Well, FA sucks. No news there!

After 10 attempts of getting pregnant via PGD, we finally heard the good news 'blood test is positive' a few days before New Years eve. It was the first (and only) pregnancy, even though more than 140 eggs have been retrieved during the last three years. A total of 8 eggs have been transferred, and this time hopes were that we finally would have this very longed for baby.

However, it was not without obstacles. Due to risk of crosslinking of the DNA in our two mutations (making false positives or false negatives), the laboratory in Copenhagen had not been able to set up the analysis to rule out fanconi anemia in the early stages of testing the eggs. We had therefore agreed to go along with the eggs that tested positive with the same HLA as Sebastian. In this way we would be sure about the HLA, but had to test via a CVS for fanconi anemia. A rather clumsy way of doing PGD - but surely a way, compared to the alternative: not to try for a healthy donormatching child.

However, already at the first scan in mid-January it was clear that the foetus was far smaller than expected. 'Hello fanconi anemia' was all we could think of. The second scan confirmed the lack of growing, although a little heart could still be detected. The last scan showed no heart-blinking, and the pregnancy has now ended.

It was our last attempt. We had agreed on that before diving into the tenth round in November last year. It is a tough decision - but a nescessary one. We cannot go on - especially not with such dissapoiting results.

Instead we hope to be able to conceive another healthy child naturally. Despite my age, we cross our fingers that our family can be completed with yet another healthy child. However, we are well aware that fanconi anemia seems to be lurking behind the tree: in 4 out of our 5 pregnancies (giving us two wonderful children, one with fanconi anemia, one without) the disease has most likely been involved. The 25% risk of fanconi anemia does seem to hit us harder than average!

It is of course hard to have to give up on this. All we can do now is pat ourselves on the back and say: we did what we could. And then move on. Looking at Sebastian and Marie-Louise I feel so fortunate to have a family in the first place ;-)

A piece of art

Sebastian has never been very keen working with his hands. With a missing thumb on the left hand and a rather weak thumb on the right hand it has never been a surprise to us, that painting, gluing, drawing and modelling were not a first priority to Sebastian.

However, he has now entered school. After the normal hours of school, the whole place turns into a recreation centre, where the kids can play and work in a whole range of different workshops (clay, wood, knitting etc.).

Yesterday Sebastian came out, proud, from the 'multi-workshop' with this creation:

A little taken my surprise of holding his very first piece of art in my hands, I asked him what it was? "A burial place" was his answer. "With a tombstone and an urn" (the white ball with the red pearl as the lid on the right). Ahh!

And yes, it was right, this past weekend we went to the southern part of Jutland to take part in the funeral (placing the urn in the burial place) of one of my mothers brothers Poul, who had died. He was an old man, with a full life behind him, and part of the grand family on my mothers side gathered in Abild for the occassion.

The weekend was much more than that, though, meeting up with cousins and relatives, diving down in the candy-markets over the German border, watching the birds and the North Sea by Højer Sluse and visiting friends in the northern part of Germany. But sure, the burial place and an the urn of Poul did make for a lasting impact on Sebastian. And then he was able - thumbs or not - to model his cardboard version of the experience. Great!

On top of it, the burial place had been a great inspiration to a lot of other kids in school yesterday. Apparently a whole range of tombstones, urns and fantastic burial places were created in the multiworkshop yesterday - inspired by the creation of Sebastian (which he, by the way, plans on using for his teddies - the cardboard box can open and close).

I wonder what the next piece of art will be ... ;-)

Life is sweet

Well, another half year gone by ... wow, time is spinning out of control!

We are all doing well, and have - touch wood - not seen much illness since January. Great! Two days ago Sebastian started school. We succeded in getting him into a school (Kongevejens Skole), which seems to be able to manage his challenges. First a couple of pictures of Sebastians first day at school:

Sebastian brought with him Scrabbers, his mouse (which in my unexperienced eyes looks more like at rat!) and a cool hairstyle ;-)

With his flowers in the schoolyard.

The kids brought out 'Kongevejeren', a lion which only comes out once a year, on the first day of school.

0.B. on Kongevejens Skole.

o.B. with their teachers Birgit and Jette.

Sebastian, William and Tobias L. meeting their 'uncles' Alfred and Benjamin from the 5th grade.

It seems as though Sebastian likes his school - even though he still speaks very fondly of his old kindergarten. And the first days have been a bit tough for him, with many new things to learn. On Friday we have an appointment at the hospital with a specialist in stomach issues, and we hope to get some good advice, as Sebastians 'accidents' seem to have augmented considerable. Mayby because he is nervous, we do not really know.

Marie-Louise is doing very well, and seems a little less 'red-haired' compared to half a year ago - she is behaving a little better, and the conflicts do not spin out of control as often. She is strong-willed, no doubt, but we can better handle it now. Her language is definately getting better and stronger, which helps a lot. We have asked for some help to her when it comes to pronouncation of sounds, which we hope to start up on during this fall.

She is a sweet, sweet girl with good creativity: she loves to paint and draw, cut and glue and play with play-dough. Here some recent photos of her:

On the bike in Rågeleje ...

... and on a horse in Dyrehaven.

We are still trying to get pregnant with a healthy child, which could also be a HLA match for Sebastian, via PGD. However, we have not been lucky so far. I have now started the 9th attempt with daily injections with hormones, and hope that this time we will have many and good eggs. Egg-retrieval is planned for beginning of September.

Along with this we have been lucky to make contact with a German doctor in Berlin, who is willing to help us out when it comes to the question of possible donor-material for Sebastian. In Copenhagen we have - so far - not received much help on this, except a fluffy statement telling us that Sebastians HLA type seems 'rare'. How rare, have we asked. But they have not been able to tell us more. It turns out that we need a more specific test on Sebastians blood, to be able to make a search in the international donor register. Information which could have been nice to have, already before we started the PGD cycles now 2 1/2 years ago! However, it seems as though we can get help from Berlin, if we manage to make Copenhagen do another bloodtest on Sebastian. The answer to that is still not in, but hopefully we know before next weeks routine blood-draw on Sebastian.

I hope to be able to post pictures from our Summer in the US and in Denmark soon. Thank you for checking up on our family ;-)

News from Ørholm

Better later than never! Life is treating us well, and we are all doing well at the moment.

Since September Sebastian has only had one general anaesthesia, and that was last week. After several years of discussion with our Danish hemathologists they finally agreed to make a bone marrow biopsi and aspiration. This is something which is done once a year on FA-patients in most countries, if they have stable blood-counts as Sebastian has. But not in Denmark. Here the doctors only do the examination if the bloodcounts start to decline.

From what I have read and heard in the FA community, the normal bloodcounts can often 'not tell the full story' when it comes to abnormal behaviour of the marrow. And therefore it needs to be monitored regularly. Tue and I are not very keen on putting Sebastian under (again), and we have not pushed for this examination too hard. However, a closer look on his marrow, now that Sebastians counts are stable, does seem like a very good idea now. In this way, we have a better knowledge of how 'odd' the marrow was with normal counts and can compare this to his marrow when and if the counts start to decline.

The procedure only took 1/2 hour, and Sebastian woke up well this time. He was not very keen to go down to the theatre this time (he screamed his lungs out for 20 min!!!) - which is very understandable of course. We had bought (bribed!) Sebastian with the LEGO Atlantis portal set, which made him shine as a big sun after waking up. Other than being a little tired and pale in the days after, Sebastian has recovered well.

We do not plan to repeat the biopsi every year from now. At least not if the counts stay stable. Instead we have arranged to send a bloodsample to Berlin twice a year. In Berlin researchers have found a way to detect changes in the marrow in a simple bloodtest, and Sebastian already gave blood once. The test showed no changes in the marrow, which we therefore hope will be the same answer as will be found in marrow biopsi/aspiration.

On a very positive note Sebastian keeps being very healthy. He started in a normal kindergarten in April last year, and we were all prepared for him to get sick from meeting the bacterias from the 'real world'. He did not - rather on the contrary, he has only been home with illness 7 days since April! Both Marie-Louise and Sebastian went down with a lung-infection over Christmas, but a good dose of penicillin worked very well on both of them.

No new GA is in the calendar, and I really hope that Sebastian will get a little break now. He benefits a lot developmentally when things are calm medically, and when he gets to play with kids his own age. Sebastian has started working a lot with his fingers, and do a lot of beads, some writing and some drawing at the time. He is still very fond of LEGO of course, and can now build small sets on his own. It is very good practice!

Choosing a school for Sebastian has turned out to be a very messy affair. Tue and I have visited 7 schools, and have tried to get the municipal system working, trying to make them realise that especially the hearing loss will need some special attention. This has proved very difficult, and meetings and e-mails have piled up on the case. Yesterday we sent a complaint to the mayor, in the faint hope that something can be done to ensure that Sebastian will be able to go to a school that can cope with and has the space nescessarry to his handicaps.

It has been very frustrating in the process. Having lost confidence in the municipal system, we went out to visit a little handfull of private schools too. However, the general attitude to children with a diagnosis (and Sebastian has 17!) is depressing: at one school they would not even let us come visit! At another they just made it clear that it could be VERY difficult to get admittance. Then finally, at a nearby Catholic school they at first seemed interested in Sebastian. However, when they heard and read a little more about him, they called us and said that they could not admit him. And that they thought that he was better off in the municipal system. Back to square one! Well, we hope to get some answers within the next few weeks, and are first and foremost thrilled by the fact that Sebastian has finally seen the light about school (up untill now, school was 'stupid'): "I can learn how to read, so that I can read Donald Duck stories myself."

Marie-Louise started kindergarten in December, and turned three years old on the 12th of December. Both of them milestones in her life, which she is very proud of. In kindergarten she is together with her friend Mette (from the creche) and they have a lot of fun. Once a week they play also in the afternoon, and usually get on well :-) The birthday had been planned for a whole year. Especially the part about the cake. First some pictures from her day:

First Marie-Louise got a very special present from Sebastian:

And then a very special present from Patricia (from Camp):

And then a bike and a lot of other presents:

A grand day! In the afternoon we baked a special cake and went for a little walk in the snow:

In the evening Marie-Louise had more guests and presents:

And then it was time for the cake:

A couple of days later, Marie-Louise had invited her kindergarten to her birthday in our house. They played, had lunch and cake - another great day!:

On the 13th of December, Sebastian was part of the Lucia procession. The oldest kids from Kindergarten sing the Lucia song, and walk - all dressed in white - with lights through the whole building. As you can imagine, parents and siblings are having a great time watching the show! Sebastian was a little reluctant in the beginning, as they were to wear all white. He prefers black, as you maybe know! A pair of white stockings and a good influence from his friend Anne, convinced him that the Lucia procession was a must!

Just before Christmas we also had another PGD attempt. 14 eggs were retrieved on the 11th of December. However, none of them had the right HLA-match, and we will therefore just have to try again. We are also trying to figure out when to stop the attempts. I will turn 40 this Summer, and we would really like to have another child. The decision is a tough one though, as we know that Sebastians HLA-type is very uncommon. First of all we hope to be able to try again, for the seventh time, in January/February.

Thank you for taking your time to visit our family!