Update | It's a Crappy Situation

*Disclosure: This post may contain affiliate links, for more information please read more here.

Before I get into Jaxson's poop and sleep journey, I was finally able to catch little man signing for more! I'm very happy to share Jaxson's first official sign with our readers! Yay for baby signing! Can't wait to share more!

He USE to be a GREAT sleeper:

Jaxson slept pretty well in his little rock n play sleeper up until he was eight months old. We swaddled him, he took a binky, and he was golden. It wasn't until about December after his tubes and lip and tongue clip surgery that he started to sleep poorly. He also stopped taking his binky so we thought maybe there was a correlation with the surgery and sleep problems. We were wrong.

One of the features of DYRK1A Syndrome is sleep disorders. I was researching within the Support Group and found endless posts about our littles not sleeping well. Some tried different medication, a weighted blanket, co-sleeping, anything and everything. I was an exhausted momma and up until a month ago I didn't want to consider sleeping aids. Not that I have anything against sleeping aids, I am just an overly paranoid mother haha. Jaxson was diagnosed with central and obstructive sleep apnea when he was itty bitty so sleeping aids made me uneasy. Our Pediatrician reassured me that he will be fine as long as I keep it at 1mg.

We started 1mg of Melatonin mixed with his last bottle of milk and within 30 minutes he's asleep. Which is a miracle because sleep has been nonexistent with Jaxson. Sometimes you can find him up until midnight, fall asleep, and up a couple hours later. He does seem to be sleeping longer but I question his quality of sleep. I am questioning it because even with the Melatonin, going to bed by 9pm and waking up at 6am, he's STILL tired throughout the day. At this age JJ was taking one long nap at 11pm to 1pm. I know, I shouldn't compare my kids because every child is different. There are a bunch of children in our support group that don't sleep very well and I can't wait to have our third sleep study when we move.

We are PCS'ing to North Carolina next month and will have to look for new specialists for Jaxson. We have already been referred to Duke University since they have a prestigious Sleep Center. I'm anxious to see if his apnea eventually "resolved itself" like his Pulmanologist claimed would happen and to see what his quality of sleep is like.

Related Post: How to Prepare for a Sleep Study

Being blocked up isn't fun:

Jaxson didn't start having constipation issues until he was about five to six months old. We noticed that he would start to strain really hard to poop but really didn't think much into it. As he got older, it got worse. He started to strain really bad, screaming, spitting up, etc. I've changed his diet to prunes, pears, almond milk, you name it. It wasn't really helping much, but then I started Miralax. I started with 1 tsp a day per some families of the DYRK1A Support page and it worked wonders. He was no longer straining hard and screaming or crying.

Fast forward to the last couple days.. He has been doing great so I stopped giving him Miralax a couple weeks ago because I felt that he was eating better, more foods, and drinking fluids. Evidently I was wrong.. he is starting to strain again, hard stools, and now he's starting to throw up. Looks like Jaxson will have to continue our Miralax once a day routine and try to give him a bunch of pears, prunes, and peas (yuck!) to help things along with the Miralax. He still likes to eat some stage two baby foods so I'll stock up on some of that.

Do you have any natural constipation relief tips for this momma?

Previous Posts:

Jaxson Update | Signing

DYRK1A Awareness Day!

Jaxson Update | Signing

*This post may contains affiliate links, for more information please see my disclosure here.

Jaxson Update!

We have been diligently working on sign language with Jaxson, he is 18 months old and still can't communicate orally. He does babble some, but if he does babble it's few and far between. We upped our Speech Therapy from every other week to weekly per Aerodigestive Team's recommendation. He's been doing the sign for "more" a lot, he does it in his little Jaxson way. Instead of tapping his fingers together for "more," he brings his hands together. It is the cutest thing.

We've been watching Baby Signing Time a lot in the mornings per some of our DYRK1A Family. Their children loved it so I figured I could try it with Jaxson. I found that our oldest is just as interested with signing so it's turned into a family thing in the mornings. He also loves their TreeSchoolers program for the older children--very educational and fun! Who thought learning could be so fun?

Related Post: How Are First Awareness Day Went

The ten signs we use the most with Jaxson are: More, Eat, Please, Thank you, Help, Mommy, Daddy, All done, No, and Open. Below is a chart from the first episode of Baby Signing Time.

Baby Signing Time Chart

Right now he does a lot of shouting or yelling, and he cries when he's hungry. He seems to understand my signs but hasn't been able to do them himself quite yet. I'm not discouraged. I know with his genetic mutation that being able to communicate is hit or miss. Some DYRK1A children start saying words between 4 to 7 years old, and I've talked to another momma and her son is 16 and can't talk. He mostly communicates with signs and I think if I remember correctly pictures.

There are so many different ways to communicate besides being able to speak. The beauty about communication is that you can draw, write, use pictures, use body language, etc. to communicate with others..

How Our First DYRK1A Awareness Day Went

Our very first DYRK1A Syndrome Awareness Day went very well considering we put it together within a week, maybe even less. We had to come up with something very quick to promote for our special first day. Here are the stats from that day:

Dyrk1a Awareness & Information Page

-Reached 2,389 people
-567 post engagements
-10 new likes
-11 new followers

Dyrk1a Awareness Event

-Reached 11,600 people
-Shared 193 times
-162 people responded

(Information provided by the DYRK1A Group)

We were able to connect with three new families with a loved one diagnosed with the DYRK1A gene mutation!

I'm pretty amazed with how many people we were able to reach with an event that was put together in a matter of days. Can you imagine the reach we will have for next year's awareness day? I'm pretty excited! We should have our logo and color by then as well!

I want to thank each and everyone who participated on August 21st, 2018. It really, really means a lot to me and our DYRK1A family. I hope you continue to follow our journey!

How do you participate on awareness days?

Related Posts:

Telling Tuesday
DRK1A Syndrome Awareness Day
Weighting Game: Jaxson's Fight
Connecting with Another DYRK1A Family

DYRK1A Syndrome Awareness Day!

Hello friends!

As most of you know Jaxson has a condition called DYRK1A syndrome, and was diagnosed April of this year. Since his diagnosis we have found an awesome Support Group on Facebook! There are families from all over the globe on this support page, and currently we are sitting at about 205 families! That is AMAZING. With the new technology of genetic testing more and more families are getting long awaited answers for their children! Some have waited over 15 years to get answers!

Over 200 families!

Since joining this group I have become a member of their Work Group with a goal to become a Non Profit Organization. With this we established an Awareness Date, August 21st, which is significant because this syndrome is found within the 21st Chromosome.

Related Post: Telling Tuesday.

There was a Meet Up in July where many DYRK1A families came together to meet and celebrate with their warriors. There were a lot of guest speakers present as well, they are conducting research of our children to help us and others to understand DYRK1A better. DYRK1A is so new that there is not very much literature out there about it.

Here are some statistics from the new study that was conducted:

• 98% had intellectual disabilities or global delays
• 100% had speech delays
• 100% had motor difficulties
• 93% had microcephaly
• 93% had feeding difficulties
• 79% had vision abnormalities
• 67% had seizures
• 46% had an ASD diagnosis
• 61% had stereotyped behaviors
• 31% had anxious behaviors
• 29% had hyperactive behaviors
• 83% had behavioral differences
• 60% had 6 or more symptoms including ASD
• 76% had 6 or more symptoms including broader behavioral difficulties

-Thank you to the team from Bernier Lab for providing this information.


Below is an image from Simons VIP Connect with features and the genomic location of DYRK1A.

DYRK1A Features

About our DYRK1A Warriors:

For Awareness Day, I wanted to show the world that there are positives about our DYRK1A children. Positive you may ask? Many look at the negative when they learn about Jaxson and other children with DYRK1A and their condition. Our children are very, very happy! Despite everything they go through, all of the challenges, they are happy. I think that's one of the reasons that makes this journey so worth while. Jaxson is goofy just like any other child, he loves to play with his big brother's toy cars, he loves pancakes, he loves to be twirled around, and loves jamming to the movie Trolls just like his big brother. And if you talk to any other family they will tell you the same about their child.

Our children are fierce and determined. 

The Importance of Genetic Testing:

I've come across a few families who were having difficulties with getting their insurance to pay for genetic testing. I want to raise awareness of the benefits of having genetic testing done. Having genetic testing done can benefit the family because if it comes back positive they can start looking at prevention, monitoring, or treatment options. Jaxson has been in Physical Therapy since October of last year and it has done wonders for his development. He just recently started walking, unsteady but walking! Feeding Therapy has benefited him as well, before it would take him an hour to drink 2 ounces of milk! Now he's drinking 5-6 ounces of milk in less than 5 to 10 minutes! We are in the process of getting an Occupational Therapist as well. Early intervention is definitely beneficial for our children, so why are these insurance companies denying genetic testing referrals?

Super Jaxson!

Jaxson hanging out in the kiddie pool!

Conclusion:

To conclude this, I ask that you help us raise awareness about DYRK1A. Help us let the world know how proud we are of our children and their accomplishments! Help us educate the world about DYRK1A and the importance of genetic testing!
Please join us on August 21st by adding our DYRK1A Syndrome frame to your Social Media photos!

>>CLICK HERE TO JOIN OUR CAMPAIGN<<

Related Links:

DYRK1A Facebook

DYRK1A.org

Simons VIP Connect

REVIEW | Lavendersun

*Lavendersun provided me with an outfit for review purposes, but the opinions are my own.

Intro.

I was approached by Lavendersun a couple weeks ago to do a collaborative post about their product. I was super excited because (1) they have CUTE and STYLISH clothes, (2) they're affordable (I'll get into more of that later), and (3) who doesn't love buying clothes for their kids? My husband hates when I run out on errands because I always come back with a shirt or cute pajamas -- clothes are my kryptonite!

What I Look For:

1. Cost.

I definitely look at cost when purchasing clothes for both my boys. The outfit shown in this post only costs $15.95! You know what else is great? FREE shipping! You can't beat that! It's also perfect for back to school shopping! 

2. Appearance.

Not only is the apparel affordable, the outfits are cute and stylish as well. I chose this outfit because it was so, so cute (and Jaxson is the Boss Baby of the house lol). I loved the word "boss" written on the shirt and the tee-pee and crossbow pattern on the bottoms --  who am I kidding, EVERYTHING was cute about this outfit. 

3. Comfort & Size.

Lastly, comfort of the clothing. Comfort is extremely important to me and to my family -- who wants to feel uncomfortable in their clothing? Not me! The material was soft and he was able to crawl and walk around with ease. I ordered Jaxson 18 - 24 months since I read that the clothing is true to size. Jaxson is a little on the short size so the pants are a little long but that's no biggie, I just cuffed the bottoms. 

Product information:

- Cotton Blend

- Fits true to size

Conclusion. 

Overall we were very pleased with the outfit from Lavendersun. Jaxson even loved it so much he was trying to order more off his phone!

Thank you so much Lavendersun! I can't wait to shop for more adorable outfits for my boys through y'all!

We Have a Walker AND a Kindergartner

*This post may contain affiliate links, please see disclosure for more information.

Walking like a big boy

We got ourselves a walker!

I honestly didn't think it would happen before he turned two, he was such a potato baby only ten months ago! Jaxson has been going to Physical Therapy once a week since October of last year. He has definitely come a long way, he wasn't doing anything then, MAYBE rolling to one side but it was hit or miss. He does have an unstable gait which is one of the features of DYRK1A children but our little man is mobile!

Related Post: Telling Tuesday

via GIPHY

He definitely amazes us every single day! I'm sure chasing after his big brother on a daily basis has helped as well. He really looks up to his big brother JJ, it is very sweet. I really love the special bond that they have and I hope that it continues to grow stronger as they both get older.

JJ's First Two Days of Kindergarten:

JJ started Kindergarten yesterday (August 13th) and I surprisingly didn't cry dropping him off. I drove him to school on the first day, walked with him to his classroom, and when it was time for me to leave -- he didn't cry nor did it faze him that he wasn't going to see momma all day. I walked with some mom friends to the cafeteria for "Boo Hoo Breakfast" haha, but there wasn't anyone crying. It was a sweet idea for us Kindergarten mommas!

Kindergarten is hard

As you can see from this photo that JJ is exhausted from Kindergarten. He has been doing awesome with finding his shapes, counting, colors, and writing his name. I'm proud of this little man! My friend texted me that when she was walking with her son to class she ran into JJ. She asked how his bus ride this morning went and he said, "I don't need any help, I know where my class is!" Haha, my little independent munchkin. He's made some friends too!

How did your children do on their first day of school? Any milestones or inchstones to share?

Related Post: Inchstones Not Milestones 

Thickening Feeds | What Worked Well For Us

*This post may contain affiliate links, please see my disclosure for more information.

Backstory. . . .

When Jaxson was younger he had difficulty feeding. As mentioned in my first post I tried nursing with zero success, tried a nipple shield with zero success, and finally went to pumping exclusively. I pumped every two to three hours every single day for three straight months. Yes I probably could've kept going because I had great supply but in all honesty mentally I couldn't handle it anymore. I pumped, I thickened and fortified his feeds, I paced his feeds, I tracked his feeds, and repeat.

Paced you may ask? Yes, when we were admitted to the Children's Hospital in town they had us see a Feeding Therapist prior to being discharged. They had us pace, or allow Jaxson to suck five times, and take the bottle away from him in order for him to compose himself. We did that repeatedly until he was finished with his bottle, which could take up to hour. We were trying to prevent him from choking because he had difficulties swallowing, or better known as dysphagia. He also had risk of aspirating which meant that fluid was going into his lungs -- he was admitted for pneumonia once.

In order to prevent aspiration they had us thickening his feeds on top of fortifying (I will explain fortifying in another post) his bottles.

Related Post | Weighting Game : Jaxson's Fight.

Steps we took:

***PLEASE SPEAK WITH YOUR CHILD'S FEEDING THERAPIST OR HIS/HER MEDICAL PROVIDER PRIOR TO PURCHASING AND USING THICKENERS. I'M WRITING THIS AS A TUTORIAL ON HOW TO MIX THICKENERS AND PROVIDING INFORMATION ON WHAT TYPES OF THICKENERS ARE OUT ON THE MARKET***

***I AM NOT a Medical Professional and my experiences do NOT replace medical advice from a Feeding Therapist and/or Medical Professional.***

***I AM NOT advocating for the use of thickeners, I'm clearly stating what worked for us***

1. Picking the best bottle.

This one is tricky. You might have to spend a little money to find the perfect bottle for you warrior. We tried the Medela brand first because it was what we used with our oldest and it came with our pump. Needless to say it didn't work, and we even tried purchasing the Special Needs nipple but no luck.

We then tried the Dr. Brown bottles and their Specialty Feeding bottles. Again, no luck. One day our friend's mom was in town visiting and she recommended we try the MAM bottles because he did so well with the MAM binky. At last! We found a bottle that worked for him! I think he liked that the nipple on the bottle was flat, might've been easier for his small jaw and recessed chin to use.

*It will be a lot of trial and error but try to be patient.

2. Types of thickeners.

There are many different types of thickeners on the market and your provider may select one of these thickeners for your child. Our Pediatrician and Feeding Therapist wanted us to thicken Jaxson's feeds with rice/oatmeal cereal to prevent aspiration and choking from dysphagia.

a. Simply Thick - Easy to use, great for travel.

b. Thick It - Easy to use, dissolves quickly.

c. Gelmix - Mix with warm milk/water.

d. Oatmeal - Easy to use, mixes well.

**AGAIN, I am NOT a Medical Professional and my experiences do NOT replace medical advice from a Feeding Therapist and/or Medical Professional.

3. How you mix thickeners into bottle.

***Always follow manufacturer instructions or those given by your medical professionals***

1. Grab thickener your Medical Professional and/or Feeding Therapist recommended:

2. Prepare your bottle, here I used 4 ounces of water to show consistency change.

3. Mixed, see the difference in consistency once you mix it?

***PLEASE SEEK MEDICAL PROFESSIONAL'S ADVICE FOR WHAT TYPE OF CONSISTENCY YOUR CHILD NEEDS***

4. Conclusion.

As you can see it's a lot of trial and error. Every child is different, what might work for one might not work for another. I've seen some children on the Coping with LM or DYRK1A support page take to Dr. Brown bottles or Tommee Tippee bottles. It all depends. I know it may get frustrating and you may get discouraged -- don't. I'm here to help and there are many other blogs, groups, and support pages out there to help. We are all in this together.

Do you have any other suggestions for parents trying to thicken their child's feeds? Or would you like to share your story? Message me or comment below!

5 Lessons I Learned as a Military Spouse

*This post may contain affiliate links, please see my disclosure for more information.

Being a military spouse isn't for the faint of heart. I know what you're thinking, "you signed up for that," or "suck it up buttercup." I'm not here to complain or gain sympathy from anyone. I just wanted to write about how much more stronger and independent I am being affiliated with the military.

1. I learned to be unselfish. 

Looking back I now admit that I wasn't the most mature individual when we got married. I was 21 years old, couldn't fry chicken cutlets, or didn't know how to properly clean the house. You're probably thinking how the hell did you get married? You're not wifey material -- lol. I was very selfish and wanted things to go my way. My poor husband would do sweet things for me and I would be a brat because he took too long to do something or didn't get my way. I'm honestly surprised he stuck around (I love you)!

Over the years of our marriage, after several deployments, and unaccompanied orders, I've come to realize that you need to be unselfish. I've run around getting our PPM move ready, handled insurance problems, running the kids around to doctors appointments, sports, taking care of things at the bank, anything you name it. I'm honestly a hot mess right now with everything that is going on but I chose to be unselfish and help him. We are a team. He is currently out there training to become an even better Marine and stressed because he's away from his family. I chose to be unselfish and get on my hands and knees to scrub the grout because it'll help our move next month go that much faster. I've even mastered the lawn mower!

Related Post: Stress Relief Tips from a Military Spouse

2. Adapt and overcome.

Yes, adapting and overcoming things I didn't think I would ever do.... like mowing the lawn. I've never mowed the lawn, EVER. We were looking at paying someone to do it but honestly why not save money and just mow it myself? I plucked our little Jaxson, stuck him in my Ergobaby carrier and did the damn thing while my oldest ran around the garage like a crazy person. I think it took me a good 45 minutes to an hour the first time but now I've got it down to science. Should only take me 30 minutes to mow the lawn. I've even had a woman driving by call me a "Super-Star."


via GIPHY

3. Take charge. 

This is a trait that I learned the hard way. With the merge of Tricare South to Tricare East some things have gotten a little wonky with our insurance claims. I was being billed for services that we have a referral for AND we are Tricare Prime -- which means no copays. I thought I had handled everything but I got slapped in the face with a bill that was close to going to collections -- YIKES. I did everything right, I called and notified the hospitals that Tricare is backed up because of the merge and it could take 30 days to reprocess, had a conference call, etc. However I didn't take the initiative and call to make sure that everything was still on hold until Tricare reprocessed everything. This taught me to TAKE CHARGE and make sure everything is taken care of! Follow up and don't assume everything is all fine and dandy.

4. Friends come and go.

via GIPHY
This one is tough. You travel all over the world, you get to see many countries and cultures that most people can only dream of. With that, you have to make new friends every 3 to 4 years, leave your family behind, and your home. Being a military family is rough. This is one thing my oldest son JJ had to learn, we've had two really good friends leave within the last couple years. It broke my heart to see him cry because I get it, I've been there. I grew up moving all the time too, always the new kid. Even now at 30 years old I make new friends or lose them. You do your best to keep in touch and it's usually with the ones that you have a really great bond with. There are some that don't write or text me anymore or forget my son's birthday, but that's okay. I've learned that friends come and go, it's a part of life.

5. Be appreciative.

I really appreciate everything that my husband does for me and for our family. He works hard, kicks ass, every single day. It definitely shows! He's currently finishing up training after being promoted to Warrant Officer. With that success also comes sacrifice. He's had to miss many birthdays, anniversaries, Holidays, first steps, first words, etc. I really, REALLY appreciate how hard he works. Again that is why I want to be unselfish and help him as much as possible here at home base. Do whatever I can to make this PCS move go smoothly. He busts his butt to ensure that we have everything that we need. 

These are just a few lessons I have learned from being a military spouse and I'm sure there will be more. We've been together for almost 10 years and he always tells me the same thing, that he's going to stay in the Marine Corps until he's old and crusty.

Thank you for reading!

REVIEW | Three Reasons Why I Love Leveret Pajamas

REVIEW - LEVERET TWO PIECE PAJAMA SET

*This post may contain affiliate links, please see my disclosure for more information.

To be honest I was a little hesitant when Leveret contacted me last week. I'm usually leery about ordering from stores online because I like to see, feel, and ensure that the size fits prior to purchasing. But man am I glad that I took a chance and replied!

*Leveret is absolutely wonderful, they sent me a two piece pajama set for review purposes, but the opinions are completely my own.

**Toddler not included - lol.

1. Material

The material of the pajama set is made out of 100% cotton. They are SUPER comfortable and very stretchy! I haven't ordered myself a pair yet but I definitely will!

Super comfortable!

2. Size/Fit

Jaxson is small for his size (he's 18 months), so I was a little worried about picking his size without being able to try it on first. I went with a 2T to be safe since the information on their page stated it is suppose to fit snuggly for fire safety reasons. Jaxson usually wears 18 months baby boy clothes but he fits these 2T pajamas great! I would recommend that you order a size bigger than what your child is accustomed to wearing.

Jaxson loves his new pajama set!

3. Price.

What's not to love? The pajamas are super affordable -- the pair that Jaxson is wearing costs $19.99 and the best part is they're offering a 20% promo! I'm all for affordable and cute clothes for our boys!

Jaxson in his new pajama set 

Final thoughts:

I was extremely pleased with Leveret. We are a family who loves to do Family Movie Nights every Friday night, wear our footie pajamas, make some popcorn and hot chocolate, and put on the Nightmare Before Christmas or Trolls. Leveret pajamas will definitely be a new family tradition!

Running around in his new jammies

Thank you Leveret!

Five Awesome Facts About JJ | Big Brother

HAPPY BIRTHDAY JJ, WE LOVE YOU

*This post may contain affiliate links, please see my disclosure for more information.

Five AWESOME Facts About JJ!

Fact One:

JJ was born on August 6, 2013 at Beaufort Memorial Hospital. The day before I had him I was scheduled to have a 38 week appointment and as we were leaving the appointment my water broke. Yup! As we were leaving I felt a GUSH and then I look over to my husband and replied: "I'm not sure but I think I either peed myself or my water broke..." Sure enough, my water broke! We raced home and grabbed my hospital bag and headed to the Labor and Delivery. Fast forward to the morning of August 6, 2013, James Joseph was born! 8 lbs and 20.5 inches long!

Fact Two:

JJ has always been fascinated with dinosaurs. It's funny because when we came up with our Registry I picked a dinosaur crib set. Who would've thought that we would have a crazy child who grew up loving dinosaurs. Our dear friends from Beaufort, South Carolina even made his initials into dinosaurs for his bedroom -- we still have it hanging up in his bedroom as we speak!

JJ and Mommy

Fact Three:

He has a love/hate relationship with Chucky. Yes -- you read that right. We were going through Netflix one evening and he saw Chucky's face plastered all over the feed and he insisted to his dad that he watch it. You know what my husband did? Yup, let him watch it because "he wasn't scared." A few months later our favorite Barber bought him a Chucky doll for Christmas because he absolutely LOVED him.. Turns out he's afraid of him haha. He locks him in his playroom closet but still wants to watch the movie on Netflix (I haven't let him since) -- it's the darnest thing.

Fact Four:

He is a "mutt" like me. I am Irish, English, French Canadian, Welsh, Okinawan and his dad is Italian, Irish, and Native American -- he's just one huge melting pot! He definitely resembles my side of the family with the reddish brown hair and dark eyes. He may look like me but his attitude is ALL daddy!

Related Post: 21 Facts About Mom

Fact Five:

He's such a goofy, sweet, adorable little man who absolutely LOVES pajamas. He has a million pairs of pajamas from Dragon Ball Z, Pikachu, Spiderman, Batman -- you name it, he has it! We started doing movie nights on Friday evenings where we bring out the futon and lay down to watch movies with our bucket of popcorn and hot cocoa. Despite loving pajamas and movie night he likes to run around in his underwear, we have dubbed him "Captain Underpants."

I can't believe that we have a five year old, where has the time gone?

Top 6 Questions to Ask Your Geneticist

*This post contains affiliate links, to find out more information, please read my disclaimer.

What is Genetic Counseling?

If your child is anything like our son Jaxson, medically complex, your Pediatrician or Primary Care Physician might refer you all to a Genetic Counselor or Team. We were sent to see a Geneticist because of the many different symptoms Jaxson was exhibiting: failure to thrive, Laryngomalacia, sleep apnea, hypotonia, developmental delays, etc. A Genetic Counselor or Team come together, view your child's medical history, and come up with a game plan. Generally they suspect a few medical diagnoses and send out tests to confirm their suspicions. If they find nothing they will go back to the drawing board. I am writing this post today in hopes to help you prepare for a visit with the Genetic Counselor based on our experiences.

Prepare!

First and foremost, prior to going to the Genetic Counselor you'll need to write down a detailed family history from both sides. When you go in for the appointment they will sit down and ask you many questions about your family -- it is better to prepare before so you don't leave any information out.

Write down all of your child's symptoms, hospitalizations, etc. ANYTHING to help the Genetic Counselor come up with a game plan. After that they may send your child to the lab to have a genetic testing done, it can be one of a few types: microarray, WES, or WGS.

• Microarray: Detects microdeletions or microduplications of chromosome segments.
• WES: or Whole Exome Sequencing test, looks at more genes then the microarray.
• WGS: or Whole Genome Sequencing test, mapping out an individual's DNA.

So your child has been diagnosed with [insert your child's diagnosis], what now? 

1. What are the symptoms of this diagnosis/condition?

When I got the phone call that our results came back, I had no idea what this was. Thankfully our Genetic Team broke down what features Jaxson may or may not exhibit: he will more likely not be able to work, he can't live on his own, etc. Since it's such a rare and new disease it's really hard to know what to expect after he turns 24-years-old. The oldest individual on our support page at the moment is 24-years-old.

Anyway, ask your team to break down the features or symptoms for you. They're there to help you in any way that they can. Do not feel that you're an inconvenience! They should be able to print off information for you and give you the test results for future reference. They can also refer you to a support group or give you their contact information if you have any other questions after the visit.

2. Is it hereditary?

Our first question after hearing the symptoms associated with our son's diagnosis was that, "is it hereditary?" or "Did we cause this?" We went to see the Genetic Counselor a second time because the microarray came back "normal," they took our blood and Jaxson's for the WES. They wanted to see if one of carried the gene IF something came back from the WES.

They found an abnormality but neither my husband or I carried the gene, it was de novo or new, in Jaxson. This is very important to know in case you plan on having any more children.

3. What are the chances of having another with this diagnosis?

Very important question to ask your Genetic Counselor, "will we have another with this diagnosis?" When we spoke with the Genetic Team about the diagnosis they had mentioned that if we were to have another child it would be a less than 1% chance he or she would have the DYRK1A deletion. Since neither of us had this particular mutation it would be a less than 1% chance of having another.

However in Jaxson's case, if he were to ever have children it would be a 50% chance he would pass the gene to his children.

4. Can this be treated?

Definitely ask if this is something that could be treated or if medication can help symptoms associated with the condition. Some of the children with DYRK1A have cerebral palsy, seizures, or febrile seizures so they take medication in hopes to control it.

Related: Telling Tuesday

5. Are there services that can assist them?

Fortunately for Jaxson he was young when he was diagnosed. We were already in Feeding and Physical therapy prior to the diagnosis, which helped tremendously! We also enrolled into the Early Steps program through the state of Florida and we have an Infant Toddler Developmental Specialist that comes to the house once a week for an hour. There are PLENTY of services out there for your child -- take advantage of it!

Make sure you ask your Genetics Team what other services can and should be provided for your child. It will benefit them in the long run. I met a family from Birmingham that enlists their son to a "Sleep Camp" every summer for 4 to 5 weeks. It really is a neat program because they give them a job, teach them basic needs like cooking, and they interact with others.

6. Should I schedule a follow-up?

Check with your team. They may want you to have additional testing done because some features could arise later that are associated with the condition. For example some features associated with DYRK1A that could arise later are heart problems, feeding difficulties, musculoskeletal problems, etc. It's so hard to tell what will come about because each child has a different mutation of the gene.

Conclusion:

You are not alone. My husband and I had mixed emotions going to see a Geneticist, we wanted answers but were afraid of what the answer might be. Receiving a diagnosis after years of fighting for an answer can definitely bring a floodgate of emotions -- please have someone with you if you can. My husband was away at the time and I was thankful to have my friend with me so I could cry and talk. If you're planning on seeing a Geneticist and have any more questions, please contact me below or email me. I'll be more then happy to answer them.

Stress Relief Tips from a Military Spouse and Special Needs Parent

Stress Management is important

We all have stress...

Yes, we all do. We can all have stress with work, with your home, your relationship, your children, friends, money, etc. My stress stems from caring for two boys: a 17 month old special needs and a 5 year old. My husband being away for majority of the year. Starting our PPM (moving ourselves) for our PCS move -- we are relocating to North Carolina. Purging most of our stuff for the move, scrubbing, and cleaning for our move out of our rental home. Waiting to hear if we got the house we put an offer on. I am a full-time student online at Ultimate Medical Academy for Medical Billing and Coding. As you can see there is A LOT this mom is stressing about.

How do you do it? How do you cope? Don't get me wrong there are days that I just want to crawl under a blanket and do nothing -- but I can't. I have two little humans depending on me and my husband depending on me to make our PCS as smooth as possible. I wanted to write about some of the ways I deal with stress on a day to day basis.

Blogging:

Blogging is therapeutic

Blogging in itself can be stressful with all of the technology, templates, domains, and followers but I find it super relaxing. I started blogging back in June to help raise awareness about Jaxson and his rare condition, DYRK1A. There isn't a whole lot of information about it because it's so new in the genetic world. I wanted to write about our journey in hopes to reach someone who is going through the same struggles as us. Even if it helps only one person, that's enough for me. I also wanted to blog about Jaxson and our family to help raise awareness on Rare Chromosome Disorders. It is important to raise awareness in hopes to get the funding and care they all need.

Related: Weight Game : Jaxson's Fight.

I found that doing this was very therapeutic as well. I am writing and getting all of my emotions out, like a journal. I didn't think writing my feelings whether happy or sad would benefit me but I was wrong. If you're feeling stressed I would definitely recommend writing in either a journal or on a blog.

Exercise: 

Family stroll -- Jaxson is napping

I know what you're thinking. Exercise? Really? You're already stressed out and crunched for time, how could you possibly fit it in? Prior to having children I use to work out about 1.5 to 2 hours a day for maybe 5 to 6 days a week. Now I'm lucky to get that 30-45 minutes for a work out so I began doing Crossfit type workouts, or WODs, stretching/yoga, and/or walking.. ANYTHING to get 30 minutes of extracurricular activity in. After I exercise I always feel energized and ready to go, but when I didn't work out for a few days I can definitely feel it. I felt tired all the time, moody, and stressed out.

According to Anxiety and Depression Association of America, "Scientists have found that regular participation in aerobic exercise has been shown to decrease overall levels of tension, elevate and stabilize mood, improve sleep, and improve self-esteem. Even five minutes of aerobic exercise can stimulate anti-anxiety effects (Physical Activity Reduces Stress, 2018)."

Or like Elle Woods says...

via GIPHY

So tighten up them sneakers and get out there!

Respite Care:

Daycare or Respite Care is fantastic!

I've been fortunate enough to qualify for Respite Care because of Jaxson's EFMP level of need through the USMC. I qualify for 20 hours of Respite Care a month and I'm so thankful for that. It has helped me catch up on my reading for school work and to allow some "me time" as well. Even if you don't qualify for Respite Care, talk to a friend or family member and see if they can give you some assistance for a couple hours. It is important to have you time.

Support Groups:

Support is important

I was fortunate enough to find a support page for Jaxson's rare diagnosis the first day we got the call. It was great knowing we weren't alone with this journey, and we have our own small tribe of friends and family in our corner. They helped with questions our geneticist couldn't answer and gave us an idea of where and how Jaxson will be from years to come.

Related: 200 Strong. 

There are support pages for military spouses on Facebook as well, if you have questions regarding a PCS move, daycare questions, jobs, anything and everything they're there to help in anyway they can!

What I'm trying to say to fellow military spouses and special needs parents, take care of yourself. Go out there and run, go grab a coffee with a friend, talk to a specialist, DO SOMETHING! You can't except to take care of your littles if you're too stressed out.

How do you find relief when you're stressed? Let me know below!