We made it to Delaware… with minimal traffic- which always makes me happy! Being in the company of doctors who are so confident and can answer questions that I forgot I had, or that I never even thought of always calms my mind.
When we got into the room with Dr. Bober, we sat down and Addie started playing. We talked a lot about where she was developmentally, her walking, her sleep- the usual. We then talked about her ears- which are at the top of my worry list. With her tubes coming out and her infection, we came to the conclusion that she will, most likely, end of with another set. Also, interestingly enough, we discussed the idea that her adenoids could also come out. Our ENT, locally in Rhode Island, spoke about a 50% chance that if we remove the adenoids with another set of tubes that a recurrence of tubes would be unnecessary. Dr. Bober assured me that this number is not reflective of children with achondroplasia.
A new lesson in life.
So… we will check her ears in a few weeks, see if there is fluid in there, and then take it from there. Should fluid still be in there, we will check for swollen adenoids. Fluid, tubes. Fluid and swollen adenoids, tubes and adenoids. Plan of action- simple! Of course there are a million steps in between, but to have a start and an end point makes the middle ground a bit easier to navigate.
So we are moving out of the worry of hydrocephalus, as her soft spot is closed and she has no signs, as well as the concern for central apnea (which seemed to disappear after 6 months) and kyphosis because Miss A is up and walking… and her x-rays looked amazing! Hearing that her spine looks great is nothing short of wonderful news!
And what are we looking at now? The bowing in her legs, which is something Dr. Mackenzie really keeps an eye on. Obstructive apnea and being aware of the signs, such as snoring and bad sleep patterns. And we also have to be more conscious of ear infections, especially because Addie’s tubes fell out already… but we already talked about that! 🙂
Some interesting facts for expecting mamas:
We have a 2-3% chance of having another child with achondroplasia.
A Level 2 ultrasound after 30 weeks will give us answers if there are size concerns.
We could still have a child with dwarfism without knowing (just like with Addie!).
Bonus?
We aren’t concerned. Knowing what we know now, we are thrilled to be welcoming another baby into our family!
… and then Dr. Mackenzie. After we ended up doing acrobatic acts on the floor:
Colleen and Mac came in to examine my sweet yoga girl. After a few looks at her, we took to the halls of DuPont for some walking action. Make that running! Knowing that she’s been falling sideways a lot, I was worried about her legs and knees… but thankfully her legs are just the way they are (for now). We are having x-rays done to make sure her legs are going in the right direction and, as usual, monitor if she has any pain or increased falling. Addie does have the typical hyper-extension in her knees, but she also has hyper-mobility that causes her knees to arc sideways, which could be adding to her falls (but not bad per se).
As expected, we will be going back in 6 months (really 7) for her next set of appointments and are excited for what lies ahead. The best part of going to DuPont are the answers, the new knowledge and knowing that the next time we see these specialists we will have a whole new world opened to us. Given that we see the doctors every 6 months we are never given too much information that we worry for months to come, but we always leave with things to think about.
… we hope we can work with our insurance going forward and are looking to generate more information about United’s vendetta against major medical providers and bringing them back to Nemours! (Hello high hopes!)
Until then, We hope you had a wonderful Sibling Day… Addie loved giving her soon-to-be baby sibling a kiss while we were on a beautiful family walk:
Glad to hear that everything went well! I hear you on the UHC front. I remember when they weren’t negotiating with W&I and I thought we would have no coverage for C’s birth. Hope they get their act together!! Love the Addie pics 🙂
Seriously… they need to get it together!
martinkadelux recently posted…Marvelous Monday
Happy to hear the news of your new baby and that Addie is doing so well. Our grand babies who are identical twins have achon and have had to have surgery to open the skull a the base so that the spinal column will have more room. They go to Johns Hopkins every 6 mos. for their check up.
I know the twins!! I am so glad they are doing well! Johns Hopkins is a wonderful hospital, as well!
martinkadelux recently posted…Marvelous Monday
Sorry she still has trouble with her ears. Drew is FINALLY almost over his ear issues at age 7, after 5 ear tube surgeries (some that were titanium) and tonsils and adenoids out. Ear infections are not fun! Good to hear some of the other news you had! She’s going to be a beautiful big sister!
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Seriously… after all the medical advances, I swear ears are still such a mystery 🙁
martinkadelux recently posted…Marvelous Monday
Chelley, I’m curious why you would not mention the option of prenatal genetic testing for skeletal dysplasias, which can be done as early as 10 weeks via cvs. Was this option not offered to you? I understand that it is not an option for everyone for various reasons (and it can be exorbitantly expensive) but your blog is one of the first sources of information many find when researching this topic, and I think it should be noted if the aim is to educate and inform others.
Of course I aim to educate others, but I am not a doctor. This option was not presented to me due to my age (under 30) which would make it all out of pocket and incredibly expensive- it’s also not the safest (same risks as amnio) and I don’t promote amnio either. I hope that women speak to their doctors and get all the information their doctors work out with them and do their own research, but I do not feel that this testing is safe when not 100% necessary and because that is an opinion and not a medical one at that, I did not mention it.
I’m glad that people visit this site for information, but I also hope they seek medical help, the thoughts of a specialist and enjoy our personal story.
martinkadelux recently posted…Marvelous Monday
Most insurance companies will cover testing at any age if there is a family history or familial risk. Also, 2-3% chance of recurrence sounds really high-much higher than I was given by a geneticist, MFM specialist, and genetic counselor. Did they tell you that at DuPont?
Not my insurance, but you’re more than welcome to call United Healthcare and ask again. I’m pretty much spent with them. As far as family history, because most cases of achondroplasia are spontaneous genetic mutations that do not repeat, it isn’t considered history. The numbers I was told that at DuPont, but to be honest, like I told them: I don’t care. If I have another child with dwarfism, I have another child with dwarfism. Is there an issue with that? I won’t do genetic testing for anything, to be honest. But if they want to do a non-invasive test to try and measure her via ultrasound, I’ll let them do it. I declined a meeting with a genetic counselor because I am not concerned.
martinkadelux recently posted…Marvelous Monday
No, of course there is no issue with that!! It is your choice and should be! But–there is such a thing as misinformation. I’m also an expectant mom, and interested in the facts you post “for” expectant moms. i.e. the public. On the internet. You have mentioned many times that you aim to educate, and I assume that means you are open to discussion, no?
Or is this not the case?
I absolutely believe there is misinformation and my strong feelings regarding anmio and amnio-like procedures is why I don’t talk about them at all. Discussion is a wonderful thing, but I have made up my own mind about procedures like this, so discussion will simply turn into a “not for me” response. I do hope that women are talking with their doctors about options- and not just searching the internet. Doctors LOVE testing, so I know that these things are brought up in discussion. They were with me, and vehemently denied.
I am not here and an end-all and be-all of information and have never made that claim.
martinkadelux recently posted…Marvelous Monday
I appreciate your reply. And, in the interest of full disclosure, I think you should make that position clear on your blog, because it colors the information you convey. I’ve been a reader for a long time, and I don’t think I remember you ever saying that (though of course I may have missed it..)
I mean that respectfully, though I know that doesn’t always come across online.
I do appreciate your blog very much, and enjoy seeing Addie growing and thriving. I would like to remind you that the outcome of your story is about the best that can be expected, and not everyone is so lucky. If I have the time, I will send you a personal note with some of my story…hopefully then you will understand where I am coming from and why this matters.
Best.
Of course. I know we have been very blessed medically, and we do not disclose all of Adelaide’s medical needs to a point because it is still her life, and not our own. Some of what she goes through remains private.
As far as genetic testing goes, I do not think I will broach that because I do not have an opinion about those who choose it, and it is a well-known option… it’s also unnecessary many times (a friend of mine asked for genetic testing for dwarfism bc Addie was diagnosed- she even paid for it. No reason.).
I’ve certainly mentioned that I am not a medical professional, but I’ve never mentioned any testing because I’m only 16 weeks pregnant. I am still getting through being in my first trimester. My medical information is also something I aim to keep private where I need to. As Ive mentioned, I’ve had surgery which made me high-risk. I will not mention more and I don’t entertain questions about it, either.
I will certainly consider writing that we chose to not get testing done because it is a proven medical fact that it can be dangerous, but I think that is something that is readily available from a doctor- any doctor not just a specialist- and options are laid out to women during each pregnancy (I’ve been to two different practices during pregnancy and was offered the same info each time).
martinkadelux recently posted…Marvelous Monday
I’m glad she’s doing well.
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Thank you!
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Hi! We were just at Nemours to see Dr. Bober in May. Our second daughter is almost a year old and has achondroplasia (our first is average height) and it was our second visit. We, too, have been dealing/struggling with UHC this time around. Sorry for your troubles, too!
We’d learned at 26 weeks via short long bones on the sonograms that achondroplasia was a possibility (both of us are average height too), but we declined an amnio at that point and her diagnosis wasn’t confirmed officially until genetic tests on her came back a month after she was born. The hospital kept us healthy, but otherwise didn’t offer any help or information on what to do/needs of a newborn/infant/toddler with achondroplasia, so we were really, really lost. And scared. And sad. Reading blogs like yours has been a huge help in many ways, much moreso than the clinical and often scary and depressing information on medical sites online. Thanks for sharing your family’s story!
Thanks also for sharing your posts about toys (how I found your blog in the first place). She’s bright and happy and rolling around, propping herself up on her elbows with good head control, she has great fine motor skills even with her short fingers too, but she’s not sitting up yet. I’ve been trying to find stimulating, interesting toys for a one-year-old that don’t require sitting.
Thanks again for sharing all you have! Much health and happiness to you and your family. 🙂
Thank you so much for reading and reaching out. I wish you all the best- and know that Addie LOVED to play with toys that she could reach out and hit while laying on her tummy, that were set up in front of her- like overturned activity tables!
I am so glad that you found the DE team.. and SO over UHC! It’s a daily issue here, but we are committed to fighting!! If there’s ever anything we can do for you, please contact me! Lots of love!!!
We don’t have the same issues you do, but we do go to AI. We’ve met some awesome doctors there and we wouldn’t have our 3 year old if it weren’t for them.
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They are truly amazing! I’m so glad you found them for your 3 year old!
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