6 years

It is now 6 years since Luke had his bone-marrow transplant.

We are very happy with the progress he has made since that day.  He has grown in leaps and bounds! He is now in Grade 6 (is taller than Robin) and making friends and doing well socially. He is doing well academically, and is able to read and write well, and is on a modified math program.  This week, he wrote a 300 word essay for class, which was amazing!

Physically he is also doing much better.  He likes basketball, and “shoots hoops” in our basketball hoop on the garage.  We have done 4km hikes, he is able to ride his bike on longer routes, and walks 1km each way to school every day!  This is beyond what we expected 6 years ago.

His hearing has also improved, and he spent most of the summer without his hearing aids.

The overall improvement in his health has been great to witness.  We are very glad we chose to do a BMT as it has clearly had an impact on Luke’s health and progress.  We are also pleased that several other families have read Luke’s progress and chosen a BMT for their children with Alpha-Mannosidosis.  We look forward to hearing about their progress too.

We wrote this blog to update our friends and family on Luke’s progress.  We also wrote it for information for other families with Alpha-Mannosidosis.  However, as Luke is becoming a “normal teenager” (is that an oxymoron?), we are more aware of respecting his privacy in today’s online world.  We have decided that this will be our last blog post, and will be moving the information on this site to another webpage (www.mannosidosis.wordpress.com), to respect Luke’s privacy .  Thank you all for following Luke’s progress.  We are very happy to report that he continues to do well, and we will continue to watch our amazing son grow!

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5 years

Today marks the 5 year anniversary of Luke’s Bone Marrow Transplant.

We had a trip down memory lane with Luke and Andrew, looking back at the blog posts from 5 years ago and remembering the day when Andrew donated bone marrow to Luke.  We also had a heart cake to celebrate.

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Luke continues to do really well, attending school in Grade 5 this year.  He is doing well and making friends at his new school.  He is doing OK academically and receives additional support with math and writing.

He continues to improve physically and mentally and he loves everything you would expect an 11 year old would – superheroes, comics, music and movies.

His hearing has also continued to improve, to the level where his doctor said he probably would be OK without his hearing aids (although Luke continues to use them, as they help).  His enzyme level also continues to be in the normal range, which was the main reason we did the transplant.

Over the years we have been contacted by several other families, looking for more information about alpha-mannosidosis and bone marrow transplants.  We are glad that this site continues to be a source of information, which we were desperate for 5 years ago.  We are so happy for the hope and results that the BMT has given Luke and the potential it has given his future.  We want to share that hope with other families who have received the same diagnosis we were given, and show the longer term results that are possible with a bone marrow transplant.

Luke continues to make us laugh and provide us with much joy in our lives.

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4 years

Today is 4 years since Luke’s Bone Marrow Transplant.

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As promised, I want to give annual updates on Luke’s progress for other families that are looking for information about Alpha-Mannosidosis and BMT treatments.  Over the last year, we have been contacted by another 4 families looking for information on treatment options for their children.  They have told us that this website was good information for them, so we’ll keep on giving a yearly update.

Academically, Luke has progressed well this year again.  He is now 10 years old, has finished Grade 3 at school and is doing quite well.  He is reading a lot (he loves Archie comics and Superhero books).  He is still struggling with math, but is working hard and starting to get a lot of the basic concepts.  He has part time support at school, and gets taken out of his class for extra support with his math.

Medically, Luke is doing very well.  He has not been sick more than an average kid his age and we have not had any medical issues that we have needed to follow up on. Physically, he has been getting stronger and a little more co-ordinated.  He rides his bike to school on most nice days, and loves swimming.  He even went surfing with Dad in Tofino, on the west coast of Vancouver Island and managed to stand up!  At the end of the school year he also participated in a Triathlon club, which combined fun activities of running, cycling and swimming, which he enjoyed very much.

One area of documented improvement has been his hearing, which has improved slowly but steadily over the last 4 years.  His overall hearing has improved from a -40dB level to  -25dB, which is almost the normal level of -20dB.  He still has hearing loss at the high frequencies, but we are excited at the improvement, where we did not expect there to be any.

This year, we also co-published a paper with several of Luke’s doctors from BC Children’s hospital.  This was published in the Journal of Rare diseases.  You can read the paper HERE.

The most significant statement from the paper is from the conclusion: “We can now confidently recommend BMT to the parents of children with alpha-mannosidosis.”

It has been another great year watching Luke grow and progress.  It is clear to us that the BMT, however hard it was to go through, has ultimately been of great benefit to Luke and his future.

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3 years

It is 3 years since Luke received his bone marrow transplant and he has changed so much since then, and made so much progress.  When deciding to do the bone marrow transplant, we were unable to find much information on what had happened to patients with alpha-mannosidosis after a BMT.  We plan to continue to post an annual update on Luke’s progress for other families wanting to see the outcome of BMT for alpha-mannosidosis.

This last year has been a long list of milestones and achievements for Luke.

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Some are simple things we thought he may never do like riding a two-wheel bicycle!  He learned to do this last October, and has become really good at riding around on his bicycle without training wheels.  When he was first diagnosed, we were sure we would have to get a specially adapted bicycle for him to ride, even as an adult.  To achieve something so straightforward for many other kids, has been quite a major milestone.

His strength and stamina are much better than ever, even his helpers at school have commented on how much stronger he is than 1 year ago.  He is physically active and walks the 1km to school, most days when the weather is good and home again at the end of the day.  He will often then have a friend over to play, or go over to play with a friend.  That kind of stamina is amazing, considering that 4 years ago, we would bring him home from school after half a day, because he was so tired.

Luke attends a mainstream school where he receives part time academic support from a support worker in the classroom.  Luke repeated grade 2, since he missed so much of the school year during his Bone Marrow Transplant.  However, at the end of his grade 2 year (last year) he was reading at a grade 3 level, which we were so proud of.  Although his writing and drawing skills are still below grade level, Luke’s fine motor skills have improved a lot in the last 3 years.  He still struggles with math, and finds that quite hard, even though we do a lot of extra work with him, at home and at school.  It is quite amazing that he has been able to keep up in most areas with others at school. Repeating grade 2 was a great decision for him, and we are glad to have done it, as it has given him great confidence academically.

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Socially, he is still shy, but has started to come out of his shell quite a bit.  He has made quite a lot of friends at school, and it seems like all the other kids know him and say hi to him all the time at school.  He has developed most of the similar interests to kids his age, and enjoys Lego, Star Wars, Video games, watching TV, and jigsaw puzzles.  He is able to build Lego sets for his age level unsupervised. And actually builds some quite complicated ones.

Amazingly, over the last 4 years, his hearing has improved!  We are not sure what has caused this, or whether it is as a result of the BMT.  His ENT doctor noticed that the level at which he could hear speech, improved from 40 dB, to 20 dB over the last 4 years. (20dB is considered normal!). His high frequency hearing loss has improved from 70 dB to 40dB. It is significant and very encouraging.  At his last audiology appointment, his audiologist turned his hearing aids down, as his hearing had improved so much.  

His Eustachian tubes are working properly now to drain fluid from his middle ear, which means he does not get fluid build up in his ears, and does not get frequent ear infections (although he just got one yesterday! – but it was his first one all year).

His immune system seems to be much stronger, and he now gets just 2 or 3 colds over the winter, instead of being sick almost constantly throughout the winter.

And finally, his enzyme levels remain high, well inside the normal range and the highest in our family and we now check these every 6 months.

Luke still has his health challenges, and he still has to overcome a lot more than the average child.  But he is continually improving every year, when we were told the opposite would happen, it is quite clear that the BMT has changed the course that Luke has to follow and has made a significant difference in his life.

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2 years

Today is the second anniversary of Luke’s Bone Marrow Transplant (BMT).  We are really fortunate that he was able to receive a BMT as a treatment for his disease, and that we were able to find a donor match in Andrew.  It is hard to believe it is two years since the day he received Andrew’s donation.  To read about that day again: click here.

Since the BMT, Luke’s Alpha-Mannosidase enzyme levels have remained consistently high and we have continued to see progress in so many areas of his life.  He is reading really well and his language and speech have also improved so much.  He is becoming much more self confident and outgoing, and is enjoying life so much more.  He still struggles with numbers and arithmetic, which we hope will improve.  He will be in Grade 2 this year (instead of Grade 3), after missing so much of Grade 1 after the BMT.  Grade 2 is a much better fit for him socially and academically, and he is excited to be back at school with his friends after a fun summer holiday.

We have also noticed physical changes in his facial features, and his body.  We notice improvements in his balance and co-ordination.  He is getting much better at walking and running and his stamina has improved, so that he is able to go to school all day and also walks home after school every day (2 years ago, he couldn’t even make it through attending school without being exhausted, so we had to bring him home at lunch).  He has a 2 wheel scooter, which he is beginning to master the balance required and is asking to take the training wheels off his bicycle, which he may be ready for.  Doctors who saw Luke over the last two years have commented on his changing physical appearance and strength, and noticed that he is improving beyond normal development, which is so encouraging for us to hear.  Friends and family comment that the most noticeable improvement is his increased confidence and participation in life around him.

Overall we are very encouraged by the progress he is making, and are thankful for the changes and improvements we are seeing.  The BMT has changed his life for the better, and given us all hope for his future.  Speaking of Hope, she is 4 months old today.

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Hope

Today is 2 years since we were first told about Luke’s diagnosis.  It was a day we both will always remember, as it changed our lives so dramatically.  The diagnosis was devastating, and Luke’s future was bleak.

However, the results we have been seeing from Luke’s bone marrow transplant have been so encouraging to us over the last 18 months.  Luke is doing well at school – he is learning to read, and is doing very well, much better than we expected.  His speech and language are continually improving, he is starting to grasp math and getting better at that too.  His balance has improved so much since 2 years ago, and his muscles are stronger.  Luke’s stamina has improved as well, so that he is able to go to school and play all day, which he was never able to do before.

The results of the bone marrow transplant have been amazing to us, and given our family the optimism that Luke will have a much brighter future.  In fact, we were so optimistic that we decided to have another child, and are very excited to announce the arrival of our new daughter.  Given what she represents to our family, we have appropriately chosen to name her Hope.

Hope came to our family on May 17th, at 18:00 exactly.  She is beautiful, and we are so excited to have her join our family.  Luke and Andrew are both so excited to have a baby sister.

     

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New Baby Chaplin

We have very exciting news to share.  Luke and Andrew are going to have a new baby in the house (we chose not to find out if it a boy or girl).  Here is a picture of the new baby from an ultrasound this week.  The baby is due in May.

We were able to have genetic testing done, to determine that the baby is not affected by alpha-mannosidosis.  The tests showed that the baby has inherited a copy of Robin’s defective gene, but has inherited a good copy from Kevin, meaning that it is a carrier of a defective gene for the disorder, but not affected by it (Robin, Kevin and Andrew are also all carriers).

We are very excited by the news, and are looking forward to our new arrival.  Luke and Andrew are also very excited by the news.  They talk to the baby, and talk about what they are going to do with the baby when it comes.

Luke is still making great progress since the bone marrow transplant.  He is at school every day and is learning to read and do math.  He receives extra support at school, but is a hard worker and is making progress in all areas of his physical and mental development.  We are very encouraged by the fact that he is improving in many ways, which is more than we could have hoped for before the transplant.

Luke is still seeing many doctors  (orthopedics, gait analysis, biochemical diseases, ophthalmology, ear doctors, audiology, neuropsychology etc.), to keep track of his progress and monitor his health and the effects that the alpha-mannosidosis has on his development.  We are still hopeful for Luke’s continued improvement.

Here are some recent pictures from our Vancouver winter:

  

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