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World Rare Disease Day is held annually on the last day of February ( February 28 or February 29 on a leap year) to raise awareness for rare diseases.
I know we still have a lot of work ahead of us, but I am so excited for Mason and this new experience.
New things Mason loves doing, taking off his clothes and dancing to Taylor Swift, not always together. Before the craziness of the holidays we finally attended the last appointment we had been waiting for since Masons diagnosis, gastroenterology. It was nice having a bit of a break from going to our everyday appointments over the holidays.
Christmas time with Mason, where do I start… He loved the Christmas tree and taking the ornaments off. I wasn’t overly excited for Mason this year, I thought he would probably enjoy opening a few presents, then just be bored and want to play.
With it being such a busy time of year, you almost need a vacation after your Christmas vacation! Genetics is very complex, and something that I have spent time trying to reach a better understand of.
In the summer our genetic counsellor called us to let us know about a new genetic test they wanted to do with Mason. I think I’m most excited for Mason to be a part of this research, how cool would that be?
I love selling Scentsy it’s a great company, I hope to be successful and continue to sell Scentsy for years to come.
I’m very excited, I have been asking about getting Mason one for awhile now, but I think she wanted Mason to walk on his own first before getting use to a walker.
The problem with a two year old not walking is that he wants to do everything the other kids do, but he can’t.
Mason 2nd birthday was a pirate theme, he loves Jake and the never land pirates so it started there, then just turned into a pirate party.
At the pirate table our guests enjoyed some fish and chips, pirates punch, octopus dip and of course lots of gold!! Mason’s Jake and the Neverland pirate birthday cake with a sparkler 2 was a huge hit! So we had this big plan, the hair dresser was a friend of my mother-in-law so she agreed to come to her house so Mason would be more comfortable. Mason has taken steps on his own, If I could yell it to the world I would! We have been focusing on standing for awhile now, because with Mason, he doesn’t have the balance required to stand, and of course you have to stand before you can walk. Then one day there was a bunch of us sitting around the table, and Mason stood up and took 5 steps towards us!! We had to go for the immunology appointment because levels in Mason’s blood work came back low.
Summer so far has been filled with Mason’s appointments, yearly ones as well as his regular ones.
It had been a while since I had one of their popsicles, so I had to make these berry cheesecake pops to remind myself just how good gourmet pops really are. Maybe my love for popsicles is associated with a childhood memory which makes them taste even sweeter.
For most it’s just one day your child will stand up and take those first steps, maybe with some coaching of course.
I can’t wait for the spring, to get Mason outside working on his new skills, and to just be able to send him out with his daddy to play and work in the garage, things little boys love to do with there daddy! Don’t mind the lack of pants, someone thought it was a good idea to dump water all over them, followed by lots of laughing of course!
This year was a busy year and we were all sick with the cold, so it wasn’t as awesome as I would have liked, but it was still great.


Our tree was missing ornaments on the bottom half of the tree, every time Mason took one off, we would put it back on but a little higher each time.
The problem with Joubert Syndrome for example is that it’s not just one specific gene.
It’s called sequencing, they can check a various number of genes at once with one test.
So going out can be difficult, he wants down to crawl which is not always easy depending where we are.
It will give him the independence he is looking for as well as showing him 2 feet are faster then 4! The minute he hears a good song, he’s clapping, shaking his butt and has the cutest little head nod. We all just sat there… in shock not sure what to think! It was the best moment for me so far with Mason. So the doctor did a physical of Mason and informed us that sometimes these blood levels are just low because babies systems are not fully mature. Growing up I remember going to my aunt’s house to watch Care Bears and eat popsicles. These frosty treats combine the sweet flavor of fresh summer berries with the indulgence of creamy cheesecake.
It’s hard to believe there are over 7,000 rare diseases or disorders out there, with I’m sure many unknown!
With Mason’s syndrome, he has low muscle tone, which through physiotherapy and a lot of exercises he has improved amazingly. She said there was no guarantee of finding Mason’s causative gene but that this test will at least eliminate a lot of the genes related to Joubert Syndrome.
It’s been my escape… it’s given me somewhere else to focus my time and energy when I’m not focusing on Mason.
The walker will not be used for everyday use, the idea is to help him gain mileage and strengthen his legs. I know he is going to walk, he is to determined not to, but this is going to be a great help while he is perfecting it! He opened all his treasures, he seemed to prefer the wrapped gifts over the ones in the bags, must be the ripping lol. I have a strong feeling we’re in for a few bumps and bruises with our adventurous little man. Well Mason had a better idea, he got up on a different chair and just sat there to talk to her, so before we knew it, she was cutting!
After reviewing both mine and my husbands medical history and performing the physical on Mason, she figured that was the case. They are local here in Utah and every time I see them I have to grab at least two because their flavors are so delicious and original. So every time I have a popsicles it takes me back to those times when I didn’t have a care in the world.
Perfect for dessert on a warm summer night or cooling off during a splash fight in the backyard.
The bigger issue with Mason’s syndrome is the cerebellum involvement, Masons is formed differently. He is also starting to get around better too, gaining more steps and being more confident with taking them.
Genetic testing can take awhile so we were told she would check in with us in a few months. As I’ve mentioned before we have a 1 in 4 chance of having another child affected by Joubert Syndrome. Long story short, if we all had the same genes we would be clones, everyone has different genes.


I kept putting it off, baby’s first haircut takes them from baby to little boy in just a few minutes! He was so good, he sat there just watching, eventually we handed over our phone and a movie and he was a perfect big boy. She said she would send him for repeat blood work just to be sure, and would let us know if she found anything. Seriously, popsicles are my favorite summer treat and these ones are a new addition to our freezer collection.
Mason struggled a lot with the strength in his legs, so going from sitting to standing was hard work.
Which is why I threw out the lovely milestone chart along time ago, each and every child is different and they go at there own pace.
Mason did everything that was asked of him, and then played on his own while we chatted with the doctor. Dancing has helped, as you might remember Mason loves to dance, so sometimes he gets shaking it and forgets to stand against something.
My favorite had to be opening his clothes, he would open them up and spin around to make sure everyone could see them! On the other hand some genes carry the risk of certain diseases and disorders passed on by the parents. She has already called us back letting us know the local university was going to do the research on this gene.
Since then he had been taking a few little steps walking from one person to another, maybe 2 or 3.
That part was quick, he came in checked Mason over and told us that everything looked good. I found myself turning everything into a game, I would throw toys on the ground to purposely make him bend at the knees to pick them up. I learned not to focus so much on when he hit them, instead I would focus on the fact that he did! The neurologist was happy with Masons progress, told us to keep doing what we’re doing. Although we want to know our options, most days we have accepted the fact Mason is our one and only, and we are okay with that! She explains that because we know Joubert Syndrome has to be passed from both parents, the next plan was to do testing on both of us, to see if these genes are even a possibility. At this point we wait for the research team to do there job and hope it’s not a long wait, but we know research takes time.
It was so much fun, little clues around the yard that eventually lead her to her very own treasure! He mentioned Mason had some crystals in his urine, but that can be caused by lots of things, so next time he will just do a few extra test.
Which is why even though Mason is walking he still needs to focus on his balance, and take breaks when needed.
He said that he doesn’t need to see Mason back for 2 years, unless we need to see him.
It is rare because both parents have to be carriers of the same gene, which had to be then passed on to their child. I started a Facebook page, so I can keep my customers up to date with new products, discontinued products as well as little sales that might happen. More often than not the parents may never have known because they never showed signs of the disorder themselves.



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