So… it’s been a whole week. And a lot has happened.
I know it’s rare, but I’ve deviated from my standard MM layout before, and will again. So here we go: this Monday I want to share our Delaware trip with you.
But that’s not all we heard, of course. Even as we entered the hospital, it feels like family. Not necessarily the family that you grip with all the tensions in your body, but the family that warms your soul because you know they will make everything OK. The family we have at DuPont are the most important in medically caring for Addie’s specific needs. This was our third trip in Addie’s [almost] 18 months, and we were mainly told that we’re doing well and to just be aware of what the genetics and orthopedic teams are watching.
What are we on the lookout for?
- Kyphosis– Though Addie has a very mild showing and her back xrays show no issues in the vertebrae, we will still take images every 6 months. Dr. Mackenzie is hopeful that the kyphosis will wane as she walks more. In infancy, kyphosis can appear more apparent in LP because the lack of muscle tone, especially in the abdomen, causes the child to lean forward so much. As children gain more muscle in their core, they are more likely to hold their backs straight and many times the issues resolve themselves. There are also many LP for which this is not the case- sometimes there is no kyphosis at all, and other times surgery or bracing are needed to correct the issue.
- Lordosis– AKA swayback or saddle back. This is why you might see Addie’s little booty and belly pop out more- it’ just the way her spine pushes her. Thus far, her bones are flexible and the doctors are not concerned with her movement, but this is the way her back will be for the rest of her life. In some cases, lordosis can lead to stenosis in the spine and be the cause of great pain. Surgery can be the only solution, so it is important to maintain the health of Addie’s spine and address any issues (pain, numbing, etc.) before they become out of control.
- Genu Varum, or bowing of the legs- Addie’s legs are bowed, but more so on the left than right. For now this doesn’t seem to be hindering her walk or causing her pain so it is nothing to address yet. In time, they could straighten, or get worse, or stay the same. The bowing could be in her ankles, knees or the tibia itself growing longer than the fibula (which is the common cause of bowing). For now, we just watch her legs… and enjoy all the journeys they take her on!
- Weight– Addie is in the median on her height and weight (spot on!). Weight is something that her doctors will monitor more closely at age 2, but Dr. Bober was happy with her progression- assuring me that keeping a good diet and weight is easier to maintain than to have to achieve. Because I preach this to EVERYONE anyway, I gave myself a pat on the back. According to the chart that measures the height/weight ratio (not age to weight or age to height), at 72cm a female with achondroplasia should weigh 10kg. At 71.7cm, Miss Addie weighs in at 9.9kg. Can’t get better than that!
- Sleep apnea– Still on the radar, we will monitor her sleep in both pattern and sound. With teething, pattern has become slightly less predictable, though still great… but snoring can be an issue. Thankfully her snores do change with position and often stop if she is one way versus another. This is a good thing! Who knew? We will have a repeat study in early Spring to have one last go, but hopefully her issues will be so few that we can stop the yearly study all together… FINGERS CROSSED!
- Hydrocephalus– Lastly, we are almost out of the woods. At age 2 weight becomes a new focus- one that is lifelong- but hydrocephalus, or water on the brain, becomes much less predominant of a concern. While height and weight are in the middle, Addie’s head circumference is -1SD, which is negative one standard deviation, on her growth chart. At 50.4cm, her head is growing at a steady rate just below the average head circumference for a female with achondroplasia. Hearing stories of Addie’s social development and seeing her cognitive skills in the office, Dr. Bober told us that she is mostly out of the woods. He, again, gave us the list of things to look out for: headaches, vomiting, confusion, bulging fontanelle… and thankfully, I checked them all off in my head as never seeing signs of these issues.
It’s a plentiful list, for sure, but nothing that we can’t handle. Again, we will make the trek to Delaware in 6 months to recheck the spine, head growth and discuss sleep. We will all watch Addie walk the halls and smile every time she turns her head with a smile- making the game of “watch me walk” into a “run and hide” segment.
Every time we leave the small state, I feel a relief. My heart slows, my hands stop moving and the pins and needles in my body calm. I frantically search over every note I took and always land upon a similar set of words: She’s doing great- we are just watching for now.
For now seems to be a threat. Not one of imminent danger, but a reminder that things could change. Not to fear a change, but to be prepared for it. With the medical team we have watching over our sweet girl, there is no way that we will not be prepared and receive the best treatment possible. Thank you to DuPont Hospital and the amazing team in the skeletal dysplasia clinic!
Clearly I’m thankful for our doctors and that was A LOT of information about dwarfism, but what was so random this week? After spending a weekend with my nephew (and sister), I realize what the best lifetimes are made of. We are 1,415.9 miles apart, but after having (too few) days with him, I know that the quality of time I got- the laughs, tickles and a few punches (him, not me) were more important than getting pictures… which are easier to attain from a ham like Addie, versus my wily nephew! But, I have the memories. They are keeping me warm in this crazy New England weather now. Holding him up on my feet, wrapping him up in my arms and tossing him on the couch in fits of giggles- those are the memories. I anticipate my new nephew’s arrival- his sweet coos and gentle hands- things that will be replaced by his big brother’s teachings. Things that will make me laugh- forward rolls with gusto, building blocks from one corner to the next, and tackles that put NFL defenders to shame… these are a few of a boy’s favorite things, while pictures with his aunt are not. Spending the weekend in suburban Philadelphia with all of my siblings in one place (which never happens anymore) was so special to me. I hope that next time I get to see my brother-in-law, too!… who will soon be a dad to “Maverick”, little brother to my camera shy nephew, Mark.
What a beautiful weekend to carry me into the week. Happy Monday, Reader.