ADELINE'S CORNER

We have some great news to share! I qualified for early intervention services through the state of Colorado. 

Adeline had one session with her physical therapist and then rocked her gross motor progression and development and we were able to discharge physical therapy. Addie is officially 9 month old and is crawling, walking and cruising along furniture. There is no slowing her down!  

Our speech therapist has been amazing since we’ve started working with her.  We have focused on safely progressing through foods. It took Adeline until 8 months of age to begin swallowing purées and now she is a champ and loves them. We are slowly starting to introduce more foods with “harder” textures and foods that require more oral motor skills. This is a bit tricky. We will continue to practice, practice, practice! 

Update! We have successfully mastered purees and are onto soft solids. Most recently, after turning a year old Adeline surprised her momma by taking her first sips through a straw. This has been a long feat of finding the right cup! 

Since starting daycare, Urgent Care has been our favorite place! We have frequented their office at least 1x/every 2 weeks or at least 2x in a week at a given. Addie has experienced everything under the moon since starting daycare including the stomach bug, hand foot mouth and nasal congestion + a cough that won’t let up for the past two months. One day we will surpass all the daycare illness and until then we will keep on going to see our favorite people! We are on the celebrity list now! 

Update: Our immune system is getting stronger, kinda. Except for the ear infections which we should have some answers soon :) 

An AFP tumor marker test is a blood test that measures the level of AFP (alpha-fetoprotein) in a sample of your blood. It's usually used to help diagnose certain types of cancer and to check how well treatment is working. 

Back to the lab again.... This time I really cried! Mom and Dad had a heart attack reading these results. They were certain I had cancer. Good news, I didn't! It was my baseline numbers and we pray they continue to go down at each visit.

August Update

We have found our people at the hospital and have been treated like royalty !  I think our  frequenet visits have placed us on the A list! We now know who to ask for when it comes to the ultrasound tech and. phlebotomlist. Great news! The past few scans and blood work have been clear and show no signs for tumors or markers. Adeline’s organs have been growing right where they should be!  Our next round is due in October.  3 down, 25 more to go! 

December Update

Momma is way behind on scheduling and needs to get the next round scheduled because the last two months have flown by! We continue to be selective about who we see, however we haven't been able to get who we've requested based on scheduling challenges. Addie is getting WAY more wiggly on the ultrasound table too! 

The Sleep Study was my hardest thing yet! This was way worse than the blood draws and ultra sounds. The sleep technician placed electrodes all over my head with this sticky glue and then requested I sleep. I didn't sleep until I was in bed with momma. The sleep technician made me put this funny CPAP machine on my face because I was having episodes of apnea for the 2 hours I fell asleep in momma's arms. There was a learning curve to wearing the CPAP. I decided I would stop breathing for about 10-20 seconds. I know this felt like a lifetime to my mom, but I learned quick and was able to use it successfully on the second attempt. At 2 AM I decided I was all done. Thank god my momma said no more. I was then able to sleep for the next few hours peacefully. BUT the worst was about to come... Removal of the electrodes. Those things were really glued onto my head. The sleep tech used some stinky adhesive remove and I cried until all were removed. 

August Update

We are heading into our next sleep study in September. Over the past few months, we have had Adeline off her oxygen because she started rolling and It no longer felt safe for Addie to be wearing this. This next sleep study will be telling on how Adeline’s breathing has truly been at night . Momma is confident  that Adeline is still impacted by her severe OSA based on the sounds she makes at night and frequent waking. Sleep has been the hardest part! 

December Update

Addie made MAJOR improvements with her OSA! Adeline went from severe levels of sleep apnea to mild. This was the best news we could have received!  I would highly recommend using the local children's hospital for sleep studies! 

This doctor was AWESOME. This doc read my sleep study results and shared that I needed oxygen. He took a proactive approach and I've been sleeping really good at night with the oxygen. The first few nights I fought the nasal cannula on my face, but now I don't mind it. At the appointment with the ENT the doc got a real up close and personal look at my nose and throat. He stuck a camera up my nose and then through my mouth. I did not love it but I tolerated it! 

I was the luckiest girl to have recieved an appointment at CHOP before my mom returned to work. Here I met the BWS Team, Dr. Jennifer Kalish and Evan Hathaway. They were definitely experts in BWS and eased all of my parents concerns. At this appointment we learned all about BWS, why this occured, and recommendations for next steps. At this appointment, Dr. Kalish did a thorough evaluation of my body to see if I have any signs for  hemi-hypertrophy. At this time one of my calfs is 6% larger than the other. Dr. Kalish is going to continue monitoring me as I return for routine visits. I also learned I have ear pronounced ear creases that were originally missed during other evaluations in CO. Dr. Kalish is also watching the creases on my legs aka fat rolls because these are also asymmetrical.  At the end of the visit Dr. Kalish gave me the cutest butterfly, which had the markings BWS on its wings. That was my favorite part!

August Update

We will be headed back to CHOP in November and will meet with Dr. Kalish again to see how  I am progressing developmentally and any next steps.  We are really looking forward to this appointment. 

December Update

We will be heading back to CHOP in a year based on the assessment of Adeline from this visit. Similar to the first appointment measurements were repeated and resources were discussed for when Adeline becomes of age to understand what BWS is and how this impacts her in addition to ortho, developmental pediatrician and speech therapist if needed the next time we head back to Philly. Overall it was a great trip!

The visit with Dr. Taylor at CHOP from plastic surgery was much easier than expected! Dr. Taylor used a tongue depressor to take a look inside my mouth and assess my airway. Here I learned that there is a rating scale for macroglossia and how big my tongue really is in comparison to typical tongue sizes. A scale of 0, 1, 2, and 3 are used to grade/assess tongue size. Dr. Kalish and Dr. Taylor agreed that my tongue is a size 2 and is considered on the larger size as a moderate macroglossia. 

Next steps! Dr. Taylor made sure to educate mom and dad that it is best to complete tongue surgery later rather than sooner to allow an easier recovery and ensure my airway is developed. We did not receive final confirmation on if I need a tongue reduction, but it definitely sounds like it will be in the books in the future. 

Dr. Taylor wants to see me again in a few months to make sure my airway is still developing appropriately and that my feeding, speech and jaw development are not hindering anything. 

August Update

 We are officially booked to head back to CHOP in November to meet with our Genetics and Plastic Surgery Team again to see how I am developing and to see if we have a projected timeline for tongue reduction surgery. 

December Update 

We went back to CHOP and met with the BWS Team and Plastic Surgery again. Great news! Tongue reduction surgery will be reviewed in 1 year again to see how Adeline's jaw, teeth, speech and feeding are developing. I am so thankful we have another year at least surgery free! 

Back to the lab again. Wahh! 

Following our appointment with genetics we learned that there was a 1% chance that my BWS could have been inherited.  My parents made the decision to complete an additional blood test to see what the future has in store for us. The reason why is this could impact a future sibiling or if/when I want to have kids in the distant future. My parents thought this information would allow for the most educated decision for all of us regarding family planning. We are glad to have the opportunity to find out more. This bloodwork will take a few months for results. 

Unfortunately, at the lab the phlebotomist poked me 3 times until they were able to get a blood draw. I made sure to cry to tell them it hurt. Momma was with me and was also mad at how many attempts were needed. In CO, we have always been successful on my blood draws on the first time. 

August Update

We received the results! The additional genetic testing showed that Adeline’s BWS was not inherited. This means both momma and Addie have a less than 1% chance of  Addie‘s sibling or Addies own kids having BWS. Adeline’s BWS was  due to a random mutation of her gene.  As a mom , I wanted Adeline to have this information to ensure she could make an informed decision if she ever wants to have children in the future and have an idea what our family planning would look like when we are ready to conceive again.