My OBGYN gave us some very wise advice during that first appointment where she informed us that Asher's bones were not growing at the rate they would expect - which was, stay off of Google.
Being the rule follower that I am, I obviously went home and stayed off of Google for the remainder of my pregnancy and patiently waited for each follow up appointment for the doctors to educate me on what was happening with my baby.
WRONG. There are still tire marks in the driveway of my doctor's office that show how fast I ran home and jumped right into the never ending rabbit hole of Google research. And I researched, and researched, and researched, until I had read almost everything there was to read out there that sounded even remotely similar to what we heard about Asher's bone growth. And let me be the first to admit - this was a terrifying experience. I immediately felt flooded with horrible news, documenting worse case scenarios where the babies were not able to survive. At which point I completely understood what my doctor was trying to save me from.
It was this experience that ultimately led to this blog. It was having been through the worst experience of my life, to come out on the other side with the absolute best outcome you could ever imagine (and that outcome's name is Asher, and he's currently trying to figure out how eat his left foot - so take THAT "incompatible with life" predictions!). And it was my experience with seeing very little information out there during this time that was positive - that was uplifting - that was encouraging - and that gave me hope.
When you think about this - it makes sense. When do people go online to give reviews about a restaurant and a store, more often than any other time? When they had a horrible experience, and when the waiter made them so mad that they were seeing red. Same thing with medical info - when is a mountain of research done and posted online, and when do people flood the internet looking for answers? When things are bad.
That isn't to say there isn't plenty of research out there documenting good case scenarios - they just tend to be drowned out by the information out there that is documenting the worst case scenarios. And that is a terrifying place to be digging when you are facing what the doctors are describing as a 'worst case scenario'.
So this blog is intended to try to provide some light at the end of the tunnel. Some hope among the massive amount of despair out there. There is so much negative info out there, and negative preconceptions that exist in the world today - so all we can hope to do is fight it by arming ourselves with the one thing that can help in the end: knowledge. Knowledge about the good, and knowledge about the bad. C'mon people, time is money, money is power, power is pizza, pizza is knowledge...
Ok that last part may have been a line from Parks & Recreation - but you get my point. So I am going to dive in with some basic information about skeletal dysplasia, the statistics, the incredible resources that are out there, and ultimately about how sometimes, you can defy the odds, and just when everyone is telling you there is no hope - you can be blessed with the most perfect human being ever created. Even if he does try to eat his left foot at times.
So I'll start by saying that I will throw out some various terms throughout here, and it may help to explain them some first (other people may use them differently - but we will just roll with this). The term "dwarfism" generally refers to people of short stature. "Short stature", as noted above, refers to people who are 4 foot 10 or under (as adults). Most types of dwarfism are known as "skeletal dysplasia", which are conditions of abnormal bone growth. However, for the most part I am using Dwarfism and Skeletal Dysplasia synonymously, and will use them interchangeably. This is because my experience is limited primarily to skeletal dysplasia, since that is what I have encountered with my son and therefore my research. And while I am doing my best to summarize a vast amount of information here - with over 500 types of dwarfism, it will be impossible to cover every (or even a large number) of scenarios (well that, and I'm not a doctor). Little People are no different than average height people in that they are all unique individuals who have their own journey, which comes with their own unique struggles, triumphs, skills, challenges, and frustrations. But that is what it means to be human - not what it means to be a Little Person. So with that said - here it goes:
1. Quick Facts about Dwarfism:
Dwarfism is characterized by short stature. According to the Little People of America group (LPA), this means an adult who is 4 foot 10 or under.
Dwarfism can be caused by any one of more than 500 conditions, most of which are genetic.
The most common type of dwarfism is achondroplasia - which accounts for 70% or more of all people with dwarfism. The remaining 30% (or less) have one of the other 500+ types of dwarfism.
The vast majority of all Little People are born to parents of average height.
Dwarfism is not an intellectual disability. A person who has dwarfism is typically of normal intelligence, with the exception of extremely rare types that may affect the individual's intelligence.
Dwarfism is NOT a disease that requires a "cure."
Dwarfism is not something to apologize for. People with dwarfism are capable individuals who more often than not live full, long lives.
2. What causes Dwarfism:
Our geneticist told us that as of 2017, there are over 500 different types of dwarfism. The majority of all of these types are caused by a "spontaneous mutation" prior to conception. Laymen's terms? Some eggs and some sperm cells are just destined to become Little People. They went through a genetic change at some point in time prior to conception that laid out the blueprints for a person of short stature.
There are other types that are caused when one or both parents have a gene that they pass down to their child. Both parents could be of average height, and have a recessive gene that up until they had a child they were completely unaware of. If the child gets the gene from both parents, they can be born with that type of dwarfism (Cartilage Hair Hypoplasia is an example of this type). Or one or more of the parents may have a type of dwarfism, and can pass that type of dwarfism down. Two parents who both have dwarfism can also have a child of average height.
I was never very good at math - so I will leave out the statistics for now. All that matters is that anyone can have a child with skeletal dysplasia, they did not do anything wrong to cause it, and there is nothing wrong with their child.
And although this post won't go into detail about any of these types - there are are also types of short stature that can be caused by metabolic or hormonal disorders in infancy or childhood, chromosomal abnormalities, pituitary gland disorders, absorptive problems, and kidney disease.
3. What types of Dwarfism are there, and how are they different:
As I noted above - there are over 500 types of skeletal dysplasia. So I think we can all safely assume I won't be naming them all, or even a large number of them here. But I will name some of the more common ones (or some of the ones I've had personal experience with during our journey for a diagnosis with Asher)
Achondroplasia is by far the most common type of dwarfism. A person with achondroplasia generally has a longer torso (relatively speaking) and the upper portions of their arms and legs are shortened. They sometimes have a larger head with a prominent forehead (frontal bossing), a flattened bridge of the nose, shortened hands and fingers (often presenting with what is called a "trident hand" - where there is a gap between the middle finger and the ring finger), and reduced muscle tone. The average adult height for someone with achondroplasia is a little over 4 feet. Examples of famous people with achondroplasia include Peter Dinklage (Tyrion Lannister in Game of Thrones), and Amy Roloff and her son Zach Roloff (as well as Zach's adorable baby boy Jackson - who I may or may not stalk on Instagram).
b. Diastrophic Dysplasia
Diastrophic Dysplasia is much more rare than Achondroplasia, occurring in somewhere along the lines of 1 in 100,000 births. Unlike achondroplasia, it is the lower portion of the arms and legs that is shortened with diastrophic dysplasia. People with diastrophic dysplasia also have unique hands (they have what they call "hitchhiker thumbs").
During my pregnancy, there was a particular little boy on Youtube that has diastrophic dysplasia that completely turned my world around. I went from being scared, being upset, having no clue what to expect, to realizing that everything was going to be alright and being excited, like any new mom to be should be. I realized that things were going to be better than alright - everything was going to be amazing. I did not lose my dream of having a beautiful child that I could go on adventures with, teach to do new things, read to at night, cuddle when they scraped their knee, and love beyond measure. This little boy showed me that that dream was still very much alive, and a diagnosis of dwarfism did not change that at all. So if you watch this - be prepared for tears y'all.
c. Spondyloepiphyseal Dysplasia (SED)
SED refers to a group of various types of dwarfism. Along with achondroplasia and diastrophic dysplasia, the collective group of SED is one of the more common diagnoses of dwarfism there are (even though some of the specific variants of SED and related conditions may be quite rare). At this point, the doctors suspect that Asher may have a variant of SED known as SEDc (Spondyloepiphyseal Dysplasia congenita). And while I would love to describe SED, or even SEDc for you - there is such a large spectrum of how the various types can impact an individual that it is impossible for me to do so. I have seen the range of children with tracheostomies who require the use of wheelchairs, to children who are dancers and appear to only present with short stature.
But more importantly - I have encountered a range of children and adults who are happy, loving, fun, compassionate, successful, incredible individuals who live their lives just like the rest of the world (and this speaks to people of all types, not only SED). And to be honest, that is far more important for me to acknowledge here than to give you an accurate description of how the condition may or may not physically affect them.
4. How does Dwarfism affect a person:
As I'm sure you gathered from the description above - how the different types of skeletal dysplasia will affect a person can vary drastically. Skeletal dysplasia, generally speaking, affects bone growth. Different types cause different bones to be affected, or even which part of the bones are affected (for some it may be the middle part of the bone, some it may be the ends of the bones, others may cause more fragile bones, or it may affect the shape of the bones, etc). Each type can therefore comes with its own complications which may need monitoring, and possibly intervention. Some people with dwarfism have no real medical complications, and require no more medical care than an average height individual. Some may have spine issues (curvature of the spine, missing parts of the spine), some may have joint issues or hip issues, some have vision and hearing problems, some have breathing issues, etc.
The only way to get an accurate idea of how your child will be affected by dwarfism is to see a good doctor who specializes in the treatment of people with dwarfism. And I will emphasize this last part - not all doctors are created equal. Dwarfism is rare - so many doctors out there will go their entire career never having cared for a patient with Dwarfism. But there are some incredible doctors out there who have an amazing amount of experience with dwarfism, and can therefore give you great care and support for your child.
5. When do you know that a person has Dwarfism:
This will vary drastically based on the type of dwarfism the individual has. Some types, such as the type Asher has (whatever type that is), can be diagnosed during pregnancy. We knew Asher was going to have dwarfism as early as 19 weeks into my pregnancy, because his arms and legs were already significantly shorter than average. Achondroplasia can also be diagnosed during pregnancy, but generally not until the 3rd trimester (or possibly late 2nd trimester) when the arms and legs usually start to fall behind. Since many women don't have ultrasounds at that point in the pregnancy, they are not aware that their baby will have Achondroplasia until after he or she is born.
Then there are other types that do not present until the baby is older, sometimes even 2, 3, or 4 years old. For these types, the child's growth can be right on track for average up until that point, and then it slows down or even stops all together.
For a large number of types of dwarfism, you can do genetic testing to confirm the diagnosis. Many of the types have a specific gene that they are linked to, and if they do bloodwork and look at that gene - they can see that it has a mutation, and therefore diagnose the particular type. Many individuals are diagnosed based on an X-ray of their bones after birth. The various types may have unique identifying features that will show up on an X-ray, allowing the specialists to give a diagnosis as well.
And while it is hard to believe in this day and age, sometimes people still go years, decades, or even a whole lifetime without ever getting a definitive diagnosis. We are almost 15 months (including time during our pregnancy) into our journey for a diagnosis. And while a diagnosis would be nice to have - in theory - I know that suddenly putting a 'name' on Asher's condition is not going to change anything about him. Anything about who he is, who he is going to grow to be, his amazing personality, or how I see him. It may help us pinpoint what specific things to monitor as he gets older - but that is it. It won't change anything that really matters. To ensure he is getting appropriate medical treatment (and not getting unnecessary medical treatment), and frankly, for the sake of my own curiosity, I will continue down our journey to get that diagnosis. But in the meantime - I won't sit on pins and needles, and I will continue to enjoy every day with my beautiful son.
6. What is the appropriate terminology to use when referring to a person with Dwarfism:
This is always a hot button issue, and is something I will be the first to admit I was clueless about until I did some research. So I will sum it up for you the best I can.
Please note - since I am not a Little Person, it is not my place to make any determinations about this. It is not my place to say what is ok, what is offensive, what shouldn't be offensive, and what is acceptable. But I have tried to become educated from the general consensus of the community and info that has been published by the Little People of America, and this is my best understanding:
The phrase "Little Person" is generally accepted by most as being appropriate (I say most, because not all people with dwarfism like it, and some view it as implying they are less of a person).
Referring to someone as "a person with dwarfism" is accepted, since it is referring to them first as a person, and then explaining the condition they may have second (they are a person first and foremost).
The term "dwarf" is ok with some people with dwarfism, but not all.
The term "midget" is extremely offensive, and it should not be used to refer to anyone of short stature.
That being said - my rule of thumb is to simply call someone by their name. There is usually no reason that you need to identify someone by a physical condition they have. And this goes back to the concept that dwarfism is a condition someone has, it is not who they are. Yes, there are times that you will reference it, and if you find yourself in a situation where you don't know what will offend someone, you can always ask them what their thoughts are on the matter.
I often explain to people who ask why Asher is so small that he is a Little Person (which is still often met with blank stares from people that take that to mean he is just a small person), and if I need to elaborate I simply explain that he has dwarfism. But I tell them most importantly - his name is Asher.
7. What can I expect if my child is going to be born with Dwarfism, or has recently been diagnosed with Dwarfism:
Many moms immediately become devastated when they first find out that their baby is going to be born with, or was born with dwarfism. They start to try to picture what their child's life will be, and their head fills with an immense amount of negativity. Their perfect dream immediately vanishes. They imagine the teasing and the bullying their child will go through. The struggles they will endure. And that is all a hard thing to get out of your head once it is in there.
I remember very clearly something my OBGYN told me in my first appointment after we found out it was likely a form of skeletal dysplasia, that opened my eyes to what it means to be a mom and made me snap out of my pity party. She told me that as an OBGYN, she absolutely hates when she delivers a baby, and the mom and dad are celebrating the fact that the child has 'ten fingers and ten toes'. Because as she said - they may not always. Ten fingers and ten toes do not mean that you are out of the woods, your child is healthy and perfect, and you can stop worrying now. And then she told me the story about how one of her sons, who yes, was born with ten perfect fingers, and ten perfect toes, got an infection at 3 or 4 years old that resulted in him losing both of his legs and one of his arms.
At that point I realized that I was a mom. And my child was perfect exactly the way he is. And that even if I had a child that did not have a condition that was able to be diagnosed when I was still pregnant - you never know what the future holds. But you love your child unconditionally for who they are. Not for who you pictured in your head they would be. Because that picture is constantly changing. Whether it changes before you meet them, or several years later. Average height children also have health issues. Average height children are also bullied. Average height children also have struggles, and hardships to deal with. No, they may not be the same - but you are not exempt from experiencing all of these things because your child is not born with dwarfism. So I stopped viewing upcoming struggles as being something I was going to have to deal with because I was having a child with Dwarfism, and started viewing them as struggles I was going to have to deal with because I was about to become a mom. So I frankly needed to shape up.
So what you can expect as a parent of a child with Dwarfism is the same as you can expect with any other child. Expect to be kept up late at night with a baby that cries. Expect late night feedings and diaper changes. Expect to feel your heart melt at the first sound of their laugh or the first time they smile at you. Expect to get addicted to the smell of baby (seriously - can someone package and sell that as an air freshener??). And while your child may be delayed some in reaching their physical milestones (for example, Asher is almost 11 months old and he is still not able to sit up by himself), expect to be over the moon with joy at every little new thing they learn to do. Because they will learn how to do it all, just like any other baby. They just learn in their own time. And you can certainly expect to be proud of them.
8. What are some good resources I can look at if I want to know more about Dwarfism, or connect with other families that have parents or children with Dwarfism:
While there are a ton of good resources out there, including research centers and hospitals and doctors that specialize in dwarfism, there are two places I recommend starting your journey first. Through these groups, you will be able to identify, based on your circumstances, what other resources will be the most help to you.
1. Little People of America - This is the national nonprofit organization that provides support and information to people of short stature and their families. It is an incredible resource for information, as well as a great way to connect with families from all over the country (if you are here in the US) that have a member in their family with dwarfism.
The LPA is also broken up into chapters and districts, and each district often has their own Spring and Fall regional meetings where you can connect with families close to you.
2. Facebook - I'm usually not one to advocate much for Facebook, but this aspect of Facebook has been absolutely critical for me. There are multiple groups on Facebook that are limited to the parents and family members of people with dwarfism.
Two of my favorites have been:
If you have a specific diagnosis, there are diagnosis specific groups as well that can help connect you with other parents who have gone down the same road you are going now. I cannot speak highly enough of the amount of support, knowledge, tips, and guidance I have gotten from these communities. And importantly - how they have taken me from a place where it feels like I am isolated and the only one who is going through this unique introduction to motherhood, to a place where it feels completely normal. I am flooded with pictures of adorable babies who look like Asher, who are the same size as Asher, who are meeting milestones at the same time Asher is. And that is an incredible place to be.
9. What does all of this mean?
As a parent with a child with dwarfism, or as an individual with dwarfism, it is extremely helpful to be knowledgeable about your child's condition. It is reassuring to know you are not the only one. It is also very helpful to see the positive side of your situation.
For the rest of the world - it means nothing. All of the words on this page do not define someone with dwarfism, or even describe them as a person. It describes a physical condition that they may have, sure, but it does not describe them as a human being. And that is how we should view all people. View them as people - regardless of whether they do or do not have a condition that affects their vision, their hearing, their bone growth, their muscles, or their mobility.
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