Oh my gosh! Are we here?! We are! Happy Monday, Reader!
Addie and I are thankful that we made it to Philadelphia safe and sound! We had fun flying together and I’m sure we will have a story or two for you in an upcoming post about flying (alone) with a toddler!
* * *
This week, at the encouragement of a fellow POLP, I wanted to discuss another type of dwarfism besides achondroplasia. I want to advocate for the LP community, and though achondroplasia is rare, it is the most common type of dwarfism. Knowing that I don’t know enough about dwarfism as a whole, I started to research online, in books and through chats about other forms- to learn from other parents and help understand their concerns. I’ve been learning a lot about Diastrophic dysplasia (DD) as a result of wanting to know more about less mobile people with dwarfism. Due to the vast differences in each form, there are many features of one type of dwarfism that are absent in another. DD occurs in about one in 100,000 births. Apparent physical features tend to be shortened forearms and calves (this is known as mesomelic shortening). Mesomelic shortening is refers to a shortening of the middle (AKA intermediate) portion of a limb. Other physical features can include deformed hands and feet, cleft palate, cauliflower ear, small auditory canals in the ears, osteoarthritis (joint pain), and contractures (which are joint deformities) and can restrict movement. Many people with diastrophic dwarfism have limited range of motion, such as Matt Roloff (LPBW).
Diastrophic dysplasia is inherited in an autosomal recessive pattern which means that both parents must carry the diastrophic gene for a child to be born with DD. For couples who have a child with this form of dwarfism, there is a 25% chance with each subsequent pregnancy that the child will be diastrophic. Diastrophic dysplasia is [one of several skeletal disorders] caused by mutations in the SLC26A2 gene. This gene is responsible for instructions for making a protein essential for the normal development of cartilage- leading to the development of bone. Without this normal response/protein production, cartilage does not develop into bone properly. The signs and symptoms of diastrophic dysplasia are similar to those of another, more severe, skeletal disorder called atelosteogenesis type 2. Some diastrophic infants have breathing problems due to hypoplastic cartilage, leading the mortality rate due to respiratory distress approaching 25% in early infancy, but most people with this type of dwarfism live into their adult lives.
Like other forms of dwarfism, due to its features, diastrophic children are likely delayed in their motor skills. This is due to the many surgeries they endure in just the first few years of life. These include issues with clubbed feet, scoliosis, kyphosis, dislocated hips, and other physical issues that can be corrected with surgeries, braces or even months of casting. Regardless, as we all do, diastrophic children reach their milestones physically and mentally and many have families of their own.
THIS webpage gave me some great information, and of course I went here first… Addie’s geneticist and orthopedist are A.I. DuPont doctors! For all the achondroplasia information that I know, and all that I don’t, it was a good lesson to learn that dwarfism is not dwarfism is not dwarfism- something I know people outside of the community may not realize. The diagnosis of dwarfism is not explanatory in and of itself, but more of an umbrella. Being a person diagnosed with dwarfism can mean over 200 different possibilities (and those are just the recognized forms)- there are different types being found to this day, and children and adults who are yet undiagnosed due to their specific differences.
Thank you for learning about diastrophic dwarfism with me.
* * *
Finally… my random of the week! Besides being super excited that we made it through the airport, I was glad that I’d tagged my bags the way I did: I used my business card (with address, email and phone) as my luggage tag. Thankfully, I have moo.com business cards, which are impossible to rip! Because of this, I know that my information is on each bag, unique and clearly marked. The usual tags are hard to read and when your luggage all looks the same, sometimes you end up pulling every bag off in search of your own (not easy when you’re alone with a baby!). In the past I’ve tagged my luggage with bright fabric or tape, but in one case, the fabric was gone (leaving me searching for my bag for an hour while the same pieces of luggage paraded around the carousel- one was mine and the other was a lost bag) and taping my new (thanks Mom and Al) luggage might ruin it. So… I resorted to this:
Clean. Simple. Reliable.
Thanks for reading! Happy Monday!
Your posts always make me smile. I’m so glad you had a wonderful trip. Your photos tell all…what a special girl and what a special mother! I also love the luggage tag idea. Thank you for sharing all of your knowledge about dwarfism. I learn so much from you and Addie. You bring such joy to others! XO
Glad you made it safe and sound! Cute tags and luggage btw! You girls are as cute as always 🙂
I loved reading about DD! Thanks for sharing and educating yourself and your readers more. One thing I wanted to add though is that the figure given for infant mortality is very high and probably out of date (thankfully!) These days, with medical interventions, many kids with DD are surviving who even 20 years ago might not have been so lucky. Some need tracheostomies in order to breath, for example. Years ago, these kids would have been part of that 25%.
THANK YOU, Nicole! I have a friend who is immobile without a scooter and I’ve been doing SO much research. I wish that I could contact more doctors (but when I do, many are too busy to answer questions 🙁 ).
Hopefully, there will be more strides made in the dwarfism community and we the number will be even lower in the coming years!