Preparing…

I receive emails every week asking me questions about dwarfism, Addie, diagnosis, signs, etc. I got the following email (personal information removed for privacy) and wanted to share it with you in case you (or someone you know) have questions about a recent diagnosis:

First off your daughter is ABSOLUTELY BEAUTIFUL!!! I am 22 weeks pregnant with my first child and my husband and I were told at our 18 week doctor visit that our daughter most likely has a form of skeletal dysplasia. After sending us to the Children’s Hospital and doing ultrasounds and a CT scan they narrowed it down to achondroplasia. Although they won’t say 100% or not if she has it because we opted out of doing the amnio since she didn’t have any other chromosome disorders. When were you told or diagnosed that your daughter had achon? We are just worried and scared and don’t know where to begin since neither side has a history of skeletal dysplasia. We go back to the doctor April 23rd and will hopefully learn more then, but I am wondering if you could give me any advice or suggestions on what to do to help prepare for a child with achondroplasia. I have read that achon children will have problems with sleep apnea. Also I have read that it is advised not to put your child in a bouncy seat or swing. I am wondering what I should register for at our baby shower. I appreciate any help you can give me. Thanks in advance for taking time to read my email.

I responded:

Hey (name)! Congratulations on your pregnancy! You’re halfway there- are you excited?

Thank you for checking out the blog- and Addie <3 She’s the light of our lives and also our first baby. We have no history of skeletal dysplasia in our family, so we were surprised- We didn’t learn about Addie’s diagnosis until she was about 9 1/2 weeks. Addie was born average size (18inches and 7lb,7oz) with no bossing of the forehead or noticeable trident in the fingers (where the 4th and middle fingers split). 80% of the time, children with achondroplasia are born to AH (average height) parents and have AH siblings, etc. There is a whole numbers-based system I could lay on you about that- but truly, it’s not important now. After her birth, a genetics counselor will speak with you and you will have many opportunities in life to go over that. For now… let’s talk baby gear!!!

We didn’t know about Addie being “achon”, so we had some things that we had to return, or re-gift… clothes being a BIG issue. Personally, I suggest keeping ALL tags on clothes- bringing one NB and one Preemie outfit for going home from  the hospital (Addie was in NB and it was huge on her), and keep receipts for everything. Besides that, there are certain things that should not be used due to spinal issues like:

Bumbo Seats, or similar designs. Our babies have spinal differences, and should not be propped up to sit. For this reason, some milestones will be slightly delayed (See CHARTS), but do not fear. They find their way! Addie army crawls all over the house and loves to pull everything on the lower shelves down on the floor in her reign of terror :) It drives the dog crazy.
Slings shouldn’t be used because there isn’t spinal support. I believe we CAN babywear our LP babies, but we have to make changes to each product to provide support and make sure the head and neck are supported.
Umbrella strollers don’t offer support to the spine.. I will make my only stroller recommendation below.
Bouncers, swings, sling seats, jumpers (clips onto the moulding in a doorway)- HARD BACKED items are mostly ok, you just want to make sure that there is plenty of back support! Addie likes being in an exersaucer, but not until she was well over 3 months and it has to be on the lowest setting (make sure it’s adjustable) so her feet touch, as the legs should never be hanging as it’s bad for the hips. The stability is good in the saucer FOR ADDIE (but not all achon babies have the core muscles to be in one and can damage their spines- TALK TO YOUR DOC FIRST), but jumpers that give leeway to movement can be a lot for their legs and back to control and cause spinal injury.
Preparing for a baby with achon, is just like preparing for any other baby (although if we had known prior to her birth, I  would have looked into NOT getting lots of clothes and certain baby things). All your little one will need is love. Some kids that are said to have dwarfism, are just little at birth. Some do end up with a type. Without amnio, you won’t know for sure- BUT I would not do the amnio, either! If you can, research doctors- and make sure you speak with your chosen pedi about the diagnosis. We see Dr. Bober for genetics (every 6 months) and Dr. MacKenzie (orthopedics) in Delaware… we also have local doctors: pedi, ENT, audiology, neuro (for sleep studies), etc. Early intervention is state run and you will, with a dwarfism diagnosis, qualify for services- there is NO need for therapy right off the bat. We use EI for the pool and some sign language classes as Addie had some initial fluid in her ears and hearing loss- but the PT does not touch Addie- she just monitors her. As I said, our babies are a bit behind AH kids in their motor skills, but they get there and they do it their own way.
As far as your registry goes… people will give  you clothes, no matter what- so I chose not to register  for any except for the very few outfits I wanted Addie to have for sure. Some items we LOVE: Rock n Play (perfect for sleeping next to you in the room- allows for slightly elevated sleep if there is a breathing issues, Graco Blossom highchair, Mia Moda Facile Stroller (THE ONLY UMBRELLA STROLLER I WOULD EVER RECOMMEND FOR OUR BABIES- there  is a crossing ‘X’ at the back, and an adjustable foot rest- it provides the best back support I’ve seen in any stroller)- NO UMBRELLA STROLLER SHOULD BE USED PRIOR TO SPEAKING WITH YOUR DOCTOR, lots of small toys- I love the Green Toys teether, and the Angel Care monitor- Addie sets hers off sometimes- it’s been helpful to tell when she’s having a particularly tough night in the breathing department, and a good way for tummy time- which is crucial for a strong neck and back. For you… the Mombo Pillow! I used it for feedings and to help Addie now when she’s sitting up in case she goes backward!

This is A LOT of information. I am here to answer any questions you may have and I am honored to do so. Please let me know how your appointment goes in a few weeks, and let me know how this is all settling with you before then!!

~ Chelley

*Legality clause*
I am NOT a doctor and all medical questions should be directed to a medical professional. I will tell you what Addie’s doctors have told me, however, in an attempt to help educate and offer other opinions.
I want to add that while many achon children do have apnea, many do not. A sleep study should be done early on, and yearly for monitoring under the care of a neurologist who is familiar with the differences an achon baby has.  -My apologies for forgetting to add this to my original email!
Addie has had two studies done and had much improvement in her second- leading us to yearly studies and not half yearly! You can read more about them: ALL BLOGS WHERE I TALK ABOUT SLEEP STUDY  Hope to hear from you soon!
And that is that! I hope that this information is helpful!

Comments

  1. says

    You are the greatest resource for parents, grandparents and everyone, everywhere. You are a wealth of medical, common sense, LOVING facts and personal experience. You are educating a universe of people out here. This piece is a must read. Thank you for another wonderful share…

  2. says

    Your knowledge and experience is such an invaluable resource for SO many parents. Thank you for sharing it here, with others directly, and of course for sharing little Miss Addie with us ;-)

  3. says

    Hey there – I’ve been reading for a while but have never commented. While your advice regarding achon is great, it is extremely unlikely that achon can be detected via ultrasound as early as 18 weeks. Usually it is not detected before about 32 weeks, sometimes not even until after birth (as in your situation). Generally speaking, the earlier that skeletal dysplasia is detected, the more severe it is. Unfortunately, most forms that are detected before about 20 weeks are lethal forms of dwarfism. There are some kinds that can be detected that early however that are non-lethal, and one of them is diastrophic dysplasia, which is what my daughter Maddy has. We found out with her when I was 17 weeks and it was an extremely scary time as we understood that the possibility of it being a lethal form was not unlikely…

    All that said, much of the advice regarding achon is irrelevant to other forms of dwarfism. For example, kids with diastrophic dysplasia do not have the C1-2 instability, poor muscle tone and large heads that kids with achon have. We were able to use a bumbo, umbrella strollers, and baby carriers with Maddy as her spinal issues are structural rather than postural.

    While I think that it is great to be aware of issues regarding achon, I encourage you also to learn more about skeletal dysplasias in general, and other forms of dwarfism both lethal and non-lethal. People do and will contact you because you are a more “well known” dwarfism blogger. I hope that you will be able to give them answers that are not only relevant to achon, but to other skeletal dysplasias as well :)

    • martinkadelux says

      Hey, thank you so much for your input!
      I definitely focus on Achondroplasia- and lots of my conversations direct people to other sources, as well, so they they can learn about all dysplasias. Often times questions I get are directed about achon, so I answer to them. I wish I knew more about different kinds, but it’s been less than a year since our diagnosis and I can only learn so much! I always tell people that I am NOT a doctor and am only speaking from experience- which would include that as a parent of someone with achon (hence the A is for Adelaide and Achondroplasia) and LOVE Knoah’s Arc for a WAY more in depth view.
      I can’t wait to read your story- your daughter is beautiful!
      Thank you SO much for reading and offering me your advice- I will be doing some summer reading, for sure, so that I can offer a more well-rounded response! Would you mind if I added your blog to my blogroll?

  4. says

    The Internet is wonderful for purposes like this. Helping others and sharing stories. I’m sure any parent who can relate to you and Addie feel comforted that they are not alone. :)

  5. Krysten says

    Thanks, Chelley, for again being a font of information!
    My Maggie, who is 2 weeks today, was tentatively diagnosed with achon at 29 weeks gestation. We chose not to do an amnio, as the results would be available only just before the expected birth and weren’t going to make any difference at that point, so there was no point to risking the procedure.
    Based purely on only my scant experience, I’d suggest getting a pram rather than a stroller, to keep baby’s back flat for that first 6 months (advice from our paediatrician). I’d also suggest going for tops and bottoms rather than onesies as we’ve found that some of the premmie clothes aren’t long enough in the body for Maggie. She is better in slightly larger tops (Australian 0000) to cover her belly and smaller bottoms (00000 or premmie). The last thing we were caught out with was being prepared with bottles and newborn teats at home. I breastfed our son who didn’t even have expressed milk until he was on 3+ teats, but typical of achon babies who often have a low tone suck/swallow, I have to express and bottle-feed Maggie at the moment. We’re working on ‘topping-up’ from the breast at the end of a feed and making progress. Small steps!
    My last piece of advice would be to work out what you need to know, who you should approach to get the information and when you need the information. You don’t need to know everything at once and there are some ‘sources’ out there that are fear-mongering and unhelpful. I quickly found A is for Adelaide and identified it as a good source of information and stimulus for thinking about how I wanted to approach things as a new parent. I’m so glad I stumbled upon it.
    Good luck to all, and thank you to everyone who contributes here.
    :-)

    • martinkadelux says

      Ooooh! A pram! We don’t have a ton of options here, but there are a few 100% recline strollers that I’m sure would be perfect! THANK YOU!!!
      We buy separates for everything, too! Good thoughts. I LOVE parent collaborations!
      Addie was able to BF, but I would love to talk more about your feeding- perhaps that would be a more in-depth post to work on. We used the shield to help her latch because she just couldn’t do it another way. I know lots of babies have latch problems. I’d love to learn more and help educate other mamas.

  6. Michele - the little things says

    You are such a wealth of knowledge for all parents!!!! I am sure that mom feels more at ease now because of your wisdom :)

  7. says

    Chelley – you’re an inspiration to us all… and one hell of a baby planner. You can betcha bottom dolla that this mama was incredibly happy to receive your response & all of the nuggets of info you provide. Moreover, she doesn’t have to feel as scared or alone as she might have before pressing send. Not feeling alone… that is so crucial in this thing called life. Keep on keepin’ on mama.

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