Monday 16 August 2004, The MRI showed an abnormality of the white matter (Leukodystrophy).   Friday 8 October 2004, The verdict is out: Xavier has late onset infantile Krabbe’s disease, in a rare form because he suffers from hypertonia. We are grief-stricken. When we were doing tests to find out what Xavier had, we had eliminated this possibility because Xavier’s good health at the time meant that he didn’t have any of the criteria for this form of Krabbe’s disease.   Xavier’s neuropediatrician, Professor Nassogne, tells his parents that there is no cure. They are devastated, his mother in tears and his father not wanting to believe it. They listen to her in a dazed state and the only thing that they are able to retain from this conversation is that there is one source of hope: a bone marrow transplant that can stop the disease from progressing. However, this should be a transplant from an immediate family member, in order to prevent risks. Faced with the risk of secondary effects and morbidity, they rule out a bone marrow transplant from an unrelated donor.   We spend the weekend doing research to try to understand and find solutions to stall the appearance of symptoms and to learn more about transplants.   Unfortunately, there is no website in Europe that focuses specifically on Krabbe’s disease. It is mentioned in sites on Leukodystrophy (  http://www.myelinproject.co.uk  http://rarediseases.info.nih.gov …) but there are only brief descriptions, and these sites mainly refer to the infantile version. The other forms are hardly touched upon. In addition, in the cases listed at ELA, there was only one in Benelux, seven in France and one case in the other countries.   Nonetheless we have many questions about the disease, such as:   • When will there be regression? What will the signs be?   • Are there ways to slow down the advancement of the disease, as time is our enemy?   • What is Xavier’s life expectancy if he receives a transplant?   • Are there books or articles that have been written specifically about Krabbe’s disease?   • What are the chances of success with the transplant,  Because the former treatment is very difficult for such a young child with frail health?   • Alexander will be  3 months old on 24 October. If he is compatible with his brother, how much time should we wait to do a transplantation?   We contacted relevant associations and doctors via Internet but we only received vague answers redirecting us to the sites. As for the transplantation, we are strongly advised not to undergo one in Xavier’s case.   Tuesday 12 October 2004, Mom, Dad, Xavier and Alexander go to St. Luc to do a blood test to see if Alexander is compatible and also to see if he also has this horrible disease. We can only hope…   Xavier hasn’t gone to the day care centre since the end of last week because he still has a cold (Clamoxyl). However, he has to be in good health to undergo hospitalisation, which should be done on 24 September to insert drains and take out his adenoids.   Thursday 14 October 2004, At the end of the afternoon, Xavier and his mom go to St. Luc for an adenoidectomy (to take out his adenoids) and to insert a Shepard Transtympanic ventilator in his ears (drains). He also does a check up for allergy and a standard biology.   He returns to the 9th floor to see his neuropediatrician. He is happy to go there because he recognizes the place. As always, his mom stays with him until Saturday evening when his dad comes and takes over so that she can go home and take care of Xavier’s little brother, who is taken care of by his grandmother while his mother is at the hospital.   Everything went well and the next day he plays everywhere in the bedroom even though he has an IV, but his mother rolls around the pole it’s attached to so that he can move about. On Saturday afternoon his uncle/godfather Frédéric and his grandmother bring him gifts. Xavier loves unwrapping them and like a big boy he puts the wrapping paper in the garbage but then takes it out again. He likes his new cars, and is especially fascinated by the wheels. His favourite is the fire truck because it has a ladder! When they leave Xavier is really upset and cries because he wasn’t able to walk through the halls with his grandmother, who has to go home so that Dad can take over for Mom.   Monday 18 October 2004, Xavier goes home. This week he doesn’t go to the day care center because he has to get better first.   For one month he won’t be able to play “fish” because he can’t get water in his ears and definitely not soapy water. The earplugs aren’t really efficient because they always come out. That's no problem, Xavier likes also splashing in the kitchen sink where he squirts water everywhere, getting his grandmother as wet as if he were in the bathtub.   Xavier has to continue to do physical therapy and functional motricity. He now has a serious pathology. He has to continue to take 2,5 ml of Motilium, 5ml of Zantac and 2 ml of ferrous Sulphate per day. He is no longer allergic and we can slowly start to re-introduce dairy products into his diet. We start with “les petits Gervais” (yoghurts), which were his favourite in the past.

	Xavier continues to make progress and is very happy to go back to the day care centre, where everyone is also very happy to see him. He’s very popular but it doesn’t affect him.   Wednesday 3 November 2004, His parents find out that neither they nor Alexander are compatible, and they are dismayed.   His neuropediatrician explains to them that “At this stage it would be very difficult to do a transplantation with an unrelated donor, as the major post-operational complications this would cause outweigh the possible benefits.”   The only possible solution is to immediately conceive a third child which his parents were considering having at a later stage. Even if they only have a 20% chance that the child would be healthy and compatible, they are ready to run this risk to save Xavier.   Xavier’s mother decides to stop breastfeeding. In planning for Xavier’s possible hospitalisations she fortunately was able to freeze a lot of breast milk, so the weaning will be gradual.   The only positive thing about this dark day is that Alexander does not have Krabbe’s disease. We still have to wait for the test results to see if he is a carrier.   In the coming days, his mom isn’t her usual self but takes care of Alexander, while his grandmother does some research on in-vitro fertilization, because she thinks that it’s a better solution than trying to have a normal pregnancy with only a 20% chance of having a healthy child. She finds out that it is possible to have a child via IVF-PGD (in vitro fertilization – preimplantation genetic diagnosis).   His dad, who was ready to accept all the handicaps in the world, has just realized that they may lose their dear child. That evening, he does some research on English language web sites, and a ray of hope comes during the night when he comes across the story of Katie, an American girl who was Xavier’s age when she had an umbilical cord transplant in May 2004 from an unrelated donor. He immediately sends an email to see how Katie is doing and asks for more information. They reply quickly that their child is doing very well and include a medical article that mainly shows that there is more research and development on Krabbe’s disease in the United States than in Europe.   In the United States there are entire websites on Krabbe’s disease, and we learn that many transplants have been done, the majority with unrelated donors and with a 50% success rate.   His mom gets over it and it is now out of the question to wait and simply allow things to follow in their course, since we have to do everything we can to save Xavier. She spends the day on the phone talking to his neuropediatrician and Professor V… who will do the transplantation. The latter also confirms that in-vitro fertilization would allow for conceiving a healthy and compatible child. She immediately contacts the AZ-VUB to make an appointment with the genetics team, which is reputed to be one of the best in Europe.   Friday 12 November 2004, Xavier’s mom takes him to see Doctor Soumoy, his pediatrician, since Xavier once again has a cold (Atrovent aerosol, Rhinatol).  He has, though, made some progress and he weighs 11kg 250, measures 88.5 cm and has a cranial perimeter of 46,7 cm.   Saturday 13 November 2004, We re-introduced dairy products into Xavier’s diet since approximately a month, but he is once again very pale and has big circles under his eyes. We decide to start a new diet recommended by Dr. P… Giovanna from Catania (scientifically specialized in chemistry and pharmaceutical technology), whose baby has the infantile form of Krabbe’s disease and who started the “Grazia project” site that Xavier’s grandmother saw while surfing on Italian sites.   This diet forbids food containing galactose and its derivatives. According to Dr. P…, the diet stalls and even improves the symptoms of the disease. Her daughter is now 16 months old and is doing much better.   But Dr. Soumoy advises us to continue to give him Peptijunior (hypoallergenic milk) until we see the dietician.   Xavier finally says his first word: “encor…” (more). Even if it’s not “Mama”, “papa” or “grand mère”, we’re ecstatic. Xavier adds more syllables to his vocabulary, makes 2-syllable words that we don’t understand but we know that they mean something to him because he doesn’t hold on to our hand if we don’t understand what he wants.   He climbs on the chairs and then on the table. Since he started to walk, we close the doors and we put up gates to prevent him from hurting himself if he’s out of our reach. If we forget to close one and he is out of our eyesight, he closes it for us.   There have also been changes in his behaviour. Xavier still refuses to go to sleep alone (mum or dad have to put him to bed and have a siesta with him on their own bed), his grandma still has to hide so he doesn’t grab hold of her finger to take her everywhere with him like a big security blanket and his dummy has to be next to him all the time to reassure him, especially when he wakes up or is going to sleep. He is beginning to tolerate a few changes in his routine, such as:   • if dad is around he’s prepared to play alone or with him, as long as neither mum nor grandma are in sight;   • Xavier is now good at eating his meals with his mum or dad. In the past, only his grandma’s games and great patience managed to get him to eat enough without it all ending in tears;   • he is now prepared to be passed from one person’s arms to another’s, something that was impossible a short time ago (even from mum to dad).   He is still a bit jealous of his little brother, who he sometimes tries to hit with one of his toys, but if he cries, he cuddles him to console him….   Since Alexander was born, Xavier seeks out his mum’s cuddles even more. His dad, although representing authority, has become his playmate and siesta companion. His grandma is still his walking security blanket. Only his dad manages to resist his tantrums, which doesn’t stop him from driving his mum and grandma up the wall.   After one week on his new diet, Xavier has little pink cheeks again for the first time in a long while because of his anaemia. In addition to looking well, he is feeling better and no longer has that tired look with big bags under his eyes. We’re impatient to see the dietician because so far we’ve only cut out dairy products, whereas there are still some foods – those containing galactose – that we would also like to cut out.   Wednesday 17 November 2004, we have decided to create this site in order to get more information and to help other families who, like us, have thousands of unanswered questions. Not a day goes by that we don’t ask ourselves if we’re making the right decisions. Are we right to wait because we’re still convinced that the related donor transplant is the best option? How long will it take to get the in vitro started?   We have created Google alerts so we’ll be immediately informed of any new publication about the illness.   Friday 19 November 2004, the whole family went to the AZ-VUB to have blood tests to look for the mutation.   They met Professor L. and his team to talk about in vitro fertilisation and talked to the psychologist. It turned out that the procedure is long and tough. They will have to wait a month before Professor L can send them the ethics council’s decision about the procedure and the timescale.   At the end of the afternoon, they finally arrived at Bobcat, where his dad’s colleagues were eagerly waiting to meet Alexander.   In the evening, another visit to Dr Soumoy. Alexander and Xavier both had a temperature, they have both a Rhinopharyngitis (Perdolan, Clamoxil, salt solution). Xavier has lost 210gr, he has been ill constantly since his operation. This time his paediatrician said he mustn’t go to the day care centre all week.   His kinesitherapists will come to the house.   Thanks to the Krabbe kids website, we are in touch with parents whose child or children suffer from the same illness as Xavier. The majority have had recourse to transplants from a unrelated donor because there is a 50% success rate. We understand their choice because the children have no chance of survival so the risk is preferable to the fatal end that awaits them but we can’t bring ourselves to do the same.   We received a huge amount of information about the illness, about research and above all we have found out that Dr. Kurtzberg, in North Carolina, has carried out over 600 bone marrow and umbilical cord stem cell transplants, of which 36 were on patients suffering from Krabbe’s Disease. We don’t know what to think any more, the European and the American approaches seem so completely different.   Tuesday 23 November 2004, we received an email from Gregory Saers (Krabbe kids webmaster) who lost his baby to this terrible disease and he sent us the correct contact details of Dr Joannes Kurtzberg of Duke University  in Durham (North Carolina) and begged us to contact her because she specialises in transplants from unrelated donors.   His dad had already contacted her but had received no reply (incorrect address). That same evening his parents phoned her, but after the call we were stunned. She made it clear that Xavier only has a limited time to live. The regression could begin any day and from that point we would only have a month or two before losing our little angel.

	We are desperate; we had a sleepless night still asking the same questions: what shall we do? Are we right to wait for a transplant from a family donor? Xavier is so full of life, shall we risk doing a unrelated transplant and risk losing him if he rejects it or if there are complications?   His mum decided to tell Professeur Nassogne about the call, who, after consulting Professeur V…, rang her back to tell her that they have agreed to begin the search for a unrelated donor and begin the transplant procedure at the first signs of regression in Xavier, if this happens before the related donor transplant is possible.   Friday 26 November 2004, Xavier and his mum went to the ENT specialist to monitor his drains. They are correctly in place. He still has post-operative cartilages and his Bera test: < 30 dB in each ear. He can now have clear water in his ears (definitely no soapy water).   Xavier now points at what he wants and shakes his head if he doesn’t get what he wants. He plays at being caught, runs to us with his arms in the air to be picked up, cries if he falls and opens doors whose handles are at his height…   His talking hasn’t improved, but he is increasingly receptive. He understands when he has done something wrong and is told off, looking at us sheepishly and scratching his head.   Xavier proffers his cheek if he’s asked for a kiss, loves to be cuddled and cuddles his little brother. He recognises himself in the mirror or in a photo, smiles, laughs and points at himself.   Wednesday 1 December 2004, we received an email from Dr Aimé R…, genetic paediatrician at the Lejeune Institute in Paris. He treated a child suffering from Krabbe’s Disease until his death. We regained hope and asked him for more information about the appearance of symptoms and evaluation of the illness in this child. Unfortunately it was the infant form and he can’t help us.   Nobody in Europe can help us to know whether we are making the right choice, whether Xavier has time to wait. The decision to resort to a unrelated transplant is made even more difficult by the fact that Xavier has no symptoms, apart from his lack of balance.   His parents are going to go to America to meet Dr Kurtzberg who seems the most able to answer our questions because, as well as the children for whom she has carried out transplants, she has diagnosed one or more cases similar to Xavier’s.   Furthermore, Xavier has developed enormously during the past two months, as if he wanted to catch up on lost time. He is affectionate, mischievous and full of the joys of life, making our choice even more difficult.   He takes Royal Jelly every morning, with the approval of his paediatrician, because we found out that it strengthens the immune system. This doesn’t surprise us given that the Queen Bee, in her 5 years of existence, eats it every day, whilst a normal bee lives on average for six weeks.   When he’s hungry, he goes to find his bib and then comes to find one of us to put him in his high chair. He makes less mess when he eats and is starting to use a spoon to feed himself. He loves Smaks, which are the only sweet thing he has because he doesn’t like his sweets any more (fruit jellies).   Xavier no longer systematically throws things on the floor. He empties drawers and the bottoms of wardrobes and proudly brings us the contents. He wants to help put his nappies on and thinks he’s the cleaning king, dragging the broom across the flat.    He is starting to look through magazines before tearing them up, to turn the pages of his story book and to scribble on paper. Xavier is starting to pedal his tricycle and fill his truck with toys he wants to carry along.   Cartoons only capture his interest for a short time, for as long as the music lasts, to which he does a few dance movements. However, he’s fascinated by the patterns on the television, giving the impression that he’d like to get inside it. He’s still fascinated by  telephones and computers, no way that he is going to run riot with these though, his dad and godfather will put a computer togeather for him.   For St Nicolas he was given a xylophone at the day care centre, his godfather gave him, among other things, a little duck to pull along that he manages to push in front of him, but he still falls quite often as his balance is still unsteady.   Xavier loves his table and its bench and chairs which are the same height as him. He loves the fact that his mum sits down at it every day with educational games to stimulate him. He is very receptive, putting shapes on rods but not yet in the right order. He puts geometric shapes in the right holes.   He tidies up a few toys whilst his mum puts the rest away but he understands that he can’t leave the room until everything has been put away.   To sleep, he goes to his parents room on his own to find his dad who will get him off to sleep before putting him to bed, his dad mustn’t pick him up in the corridor in order to prevent him from crying at bedtime. But if he wakes in the night, he cries his eyes out until mum or dad come to console him and get him back to sleep.   Monday 6 December 2004, he had his first acupuncture session, which went very well. Eric Van Roy, who trained in the orient, put needles in his head and Xavier didn’t even realise. During the whole session he played with his mum, not worrying about it for a moment.   Tuesday 7 December 2004, Alexander goes to St Luc for a polysomnography (sleeping test) and an Cardia ultrasound scan because like his brother, he suffers from gastro-oesophagus reflux. His mother stays with him for 24 hours and Xavier stays with his father and grandmother.   She sees the dietician concerning Xavier’s diet. Dr Nassogne gives her a list of foods that contains galactose and its derivatives, but she cannot give her information about food items that contain fit-estrogens (due to Xavier’s allergy to the soy they contain). Xavier’s neuropediatrician adapts his vitamins needs despite his reticence to suppress Pepti-junior and to the diet that he is going to follow (fear of deprivation).   From now on, Xavier, who is no longer eating any dairy products, will eat a minimum of fruits and vegetables that contain little galactose or/and its derivatives.   Every morning before eating anything, he takes 1 ml of Royal Jelly, 1,2 ml of Fer In Sol twice a day, 5 ml of Zentac during the morning and the evening, 2,5 ml of Motilium four times a day, 1 tablespoon of Calcigénol N.F. four times a day, 1 teaspoon of Alvityl and ½ teaspoon of Eskimo-3 (fish oil).   Xavier’s mother finds out through Professeur Nassogne that Professor V. has had news of the little girl who has Krabbe’s disease, and who had an related transplantation at St Luc 16 years ago, at the age of six years old. She informs her that the girl is currently doing well and only has some vision and walking problems.   We gain hope again and are eager to meet her parents. Maybe they will be able to answer some of the questions that we have and this will possibly allow us to make the right decision.   Friday 10 December, his mother brings him to his pediatrician. Xavier has a cold again (Neobatracine, Perdolan). He weighs 11kg 570 and measures 90 cm but even if he has gained weight and grown, his cranial perimeter of 46,7cm has not changed.   After some days without impovement, Dr Soumoy has to give him antibiotics (Clamoxyl) again.   However, we are astonished, because in less that a month he has gained more than 500 gr., confirming the good basis of his new diet, which we will apply as strict as possible from now on.   We receive an answer to our e-mail sent on November 4th to the VLM (in this message we refer to the case of Katie, who just received a transplant in the U.S. from an unrelated donor). The email reads: «...Unfortunately my answer will not give you so much hope. In general the specialists in France are not in favour of a bone marrow transplant for your son’s disease. The international recommendations do not indicate a transplant for the infantile Krabbe disease. Based upon the information that I have gathered, the trials that have been done at the US have not been able to stop the disease but I do not know exactly in which context they have been made...»   This answer only reassures us about our decision to go to the US since first of all it is not the infantile form of the disease and secondly, these specialists do not see other solution than to let Xavier die.   For one week we have been in contact with Donald R. Harden, coordinator of the Duke International Patient Centre, and June Allison Thacker, Nurse Clinician, Pediatric Stem Cell Transplant, for the organization of our stay in the US, where we have scheduled a first appointment with Dr. Kurtzberg on December 27th. Today we received the programme and the contract, and still have to arrange the financial aspects since the down payment required is enormous and has to be paid before we arrive.   Initially we are discouraged because it seems impossible that we’ll be able to us to get such an amount in such a short time. We contact our friends and others we know but nobody is able to help us. Bobcat, Nicholas’ company, offers us three plane tickets but cannot give us a quick decision about a social loan. Joëlle also talks with her employer International Crisis group who gives its agreement the same day. She will have to pay back at the latest by the end of December 2005.   Friday 19 December, Xavier has a fever again and his pediatrician decides that from now on he can no longer go to the day care centre, as he is too weak. All the appointments have been made, the tickets are reserved and we are really scared of having to cancel everything if Xavier is sick.   Dr. Soumoy supports our decision to go to the US. She finds it right since we have not received precise answers to our questions and therefore we are full of questions about what path we should follow.

	December 24th, the night before the departure, he sees his pediatrician who finds him in good shape to take the trip. His godfather Frédéric comes to help us with the final preparations. He takes care of Xavier who is so excited that refuses to go to sleep and cuddles with Alexander who cannot manage to fall sleep.   This year Christmas Eve is tinged with sadness. We know that this trip is essential to save Xavier, but it is still painful for his mother, who due to a lack of financial means, must leave Alexander (5 months) behind. She knows that he will be in very good hands and will be at ease with his maternal grandmother and his godmother Jamila at his side, but his mother would have really liked to bring him with her.   December 25th, Xavier and his parents fly to North Carolina. The trip will be long and tiring, but it will be worth it as we will finally have our answers and we will learn a lot about this terrible disease. You can read about the conclusions in "Evaluation in the USA".   Xavier's Mum and Grandma.