Sunday, October 18, 2015

Dwarfism Awareness Month

October is Dwarfism Awareness Month!  Just as I have done previously with Infertility Awareness Week, I am using my Facebook feed to try to raise awareness about dwarfism by posting interesting info and links. I've gotten some good feedback so far, lots of interest and quite a few people thanking me saying they're learning a lot. That's exactly what I'm going for :-)

Below are the posts I have made thus far.  I'll add to this periodically as I post more. If you'd like to also help raise awareness about dwarfism feel free to copy and paste any of the below info you like!  Very few people know anything about dwarfism so the more awareness that can be raised, the better!


October is awareness month for two causes that are near and dear to my heart: Pregnancy and Infant Loss Awareness, and Dwarfism Awareness. I'll be posting about both this month because neither are as well understood as they should be and my hope is that I may be able to provide you, my friends, with some information about them. [Hubs] and I never thought we'd have to say goodbye to our first child and we never thought our second would be born with Achondroplasia, the most common form of dwarfism. We miss our angel every day and we are thankful every day for the amazing son we hold in our arms. I hope you'll take a minute to read my posts this month!

 Learn some facts about dwarfism!

Did you know that the majority of children born with dwarfism (80%) have average-sized parents? Dwarfism is caused by a spontaneous gene mutation at conception. What prompts a gene to change is not yet clearly understood. It is seemingly random and unpreventable, and can occur in any pregnancy. That means you too could one day have a child with dwarfism!

Did you know that there is over 200 different types of dwarfism? Jack's form is called Achondroplasia, which is the most common form. It is characterized by a large head, average sized trunk and shorter arms and legs (think: Peter Dinklage aka badass Tyrion Lannister from G.O.T.).
We are grateful to have a diagnosis as it helps us and Jack's doctors know what to expect and what to watch out for. Many babies with dwarfism won't have a diagnosis confirmed for many months, even years, and some never officially receive a diagnosis at all.

Most types of dwarfism have medical complications, some more severe than others. Some common ones associated with Achondroplasia (the type Jack has) are sleep apnea, hydrocephalus ("water on the brain"), spinal compression, chronic ear infections, and orthopedic issues. We are always on the lookout for signs of each of these problems and see specialists regularly. Now that Jack is 6 months old we are beginning to notice some of the expected delays in motor skill development due to his Achon. Most kiddos with Achon will experience motor delays with things like controlling the movements of the head, sitting up, crawling, and walking, but intellectual development is normal.

Did you know that the word “midget” is considered highly offensive to those with dwarfism? This dates back to "freak show" times when little people were only seen as here for others' entertainment and not as people in their own right. Acceptable words to use are: dwarf, little person, person with dwarfism, or short-statured. But most people with dwarfism just prefer to be called by their name rather than by their condition.
Please click on the below link to learn 5 things you should never say to a little person and to get a glimpse of what daily life is like for many short-statured individuals.

As the parent of a little person this is hard for me to read but it just reaffirms why we need dwarfism awareness.

There is no single treatment for dwarfism and most people with this condition and their families do not feel it is something to be "fixed". Instead, individualized accommodations such as specialized furniture, stools, long grabbers/sticks, etc., are used by people with dwarfism throughout their lives. Individuals with short stature can do just about everything an average-height person can, sometimes just in a different way. Their height does not keep them from leading fulfilled lives, achieving higher levels of education, or accomplishing career and personal ambitions. Dwarfism is not a disease and though opinions vary within the little people community about whether dwarfism is a disability, it is a recognized condition under the Americans with Disabilities Act.

When [Hubs] and I found out at 36 weeks pregnant that our child had dwarfism we had no idea what to do or what to think. We knew almost nothing about dwarfism and didn't even know that we, as two average height people with no other little people (LPs) in our families, could even conceive a child with dwarfism! We were lucky to quickly find some LP groups on facebook and were welcomed by some wonderful people into this new family with open arms. We were offered all kinds of guidance, resources, and support for which we will be forever grateful.  It was hard to wrap our brains around what was happening and that our child (and in fact our future) would be very different from what we had always pictured. One of the things that helped us come to terms with that is the following essay we were given called "Welcome to Holland":

Thursday, October 15, 2015

6 Month Medical Update

I haven't posted much about Jack's medical issues so I figured I'd give an update.  There has been a lot of activity:
  • Regular monthly pediatrician visits and shots
  • Twice weekly physical therapy through Early Intervention
  • Audiologist has administered 4 hearing tests since birth and confirmed he has "moderate" hearing loss in each ear (on a scale of slight-mild-moderate-severe)
  • Nephrologist (Kidney Specialist) has seen evidence of an issue with his one kidney: a "reflux" effect where some of the urine output flows back into the kidney therefore increasing chances of reoccurring kidney infections
  • Otolaryngologist (Ear/Nose/Throat Specialist) determined he may need surgery to remove tonsils and adenoids (and have ear tubes placed at the same time as he is prone to reoccurring ear infections)
  • He had an overnight sleep study done at Boston Children's Hospital last week and we are waiting for the results to see if he has sleep apnea. If he does we are rooting for "obstructive" apnea as that would likely get better with the adenoidectomy, vs. "central" apnea which would be a bigger issue as that would mean his brain is not telling his body to consistently breathe while asleep
  • Geneticist has referred us to a Neurosurgeon for an MRI to see if a certain area of his neck is causing spinal compression as we are beginning to see some evidence of possible nerve damage. If so, he will need to have decompression surgery on his spine at the base of his neck
  • Appt scheduled with Orthopedic surgeon to examine kyphosis of his spine, bowing of the legs, and to ensure proper hip alignment

I think that's all of it. We have seen a LOT of doctors in 6 months. His pediatrician, geneticist, nephrologist, and physical therapists are through the hospital here in NH but I've asked for referrals for specific doctors (otolaryngologist, audiologist, neurosurgeon, orthopedic surgeon) at Boston Children's Hospital based on recommendations from other parents of little people. It has been quite a juggling act to get the different hospitals and doctors to interact, share info, xrays, films, etc. In certain instances we've also reached out to the skeletal dysplasia experts who work out of Wilmington, DE for second (or third) opinions. Most doctors do not have experience treating little people (and many doctors have differing opinions just to make it MORE confusing) so we've had to make certain judgment calls as parents new to the world of dwarfism on whether or not we think a certain doctor knows what s/he's doing (and unfortunately, in certain cases, they don't seem to). I've had to be "That Person" who demands more in depth information and further testing and referrals to other doctors. But it's just the name of the game I guess. In addition, we've had issues with insurance because once I quit my job Jack and I went onto my husband's insurance which has been a gigantic pain in the ass. In the last 6 months I have had to learn a LOT of new things not just about dwarfism, but about how hospitals operate, interacting with medical staff, tricks to get what you want, how to advocate for yourself, navigating insurance name it.  This is my full time job. Now I'm amused that I contemplated going to back to work after maternity leave.

Jack has been a champ through it all. He really is awesome. Here he is during last week's sleep study:

We STILL cannot get all the adhesive and gunk out of his hair from all the electrodes they put on him so I think we're going to have to chop some of his sweet little locks :-(

The potential surgeries (and even just the MRI) are scary for us because complications with anesthesia are common for little people.  I'm trying not to think about that right now. These days I don't think much beyond the next appointment. If I think too much I might have a hard time moving forward. So instead, we are just plugging along. This is now my reality and my new title is "super-mom" and "advocate". I'm also now "educator" since very few people know anything about dwarfism so I'm working on that.  It's interesting because I'm just learning as I go and trying to spread the knowledge. I honestly don't know what I would do without my LP (little people) groups on facebook.  They have been my lifeline and my guidance in navigating this whole new world.

Jack: 6 Months

The good:

The bad:

My back went out on me. Sigh. I knew it was only a matter of time. Luckily I had just started physical therapy the week before so I already had an established connection nearby. (The twice weekly chiropractic visits were doing nothing for me.)  So now we've flown my parents up from Florida yet again to come help and I'm in PT every day.

The ugly:

I'm gonna have to save that for another day. There is a lot of ugly unfortunately.   Cliff's notes:

Hubby is not doing well mentally.
Ipso facto I am not doing well mentally.
Now I'm not doing well physically. (And he's never doing well physically.)
Today is Pregnancy & Infant Loss Awareness Day. I am grieving Petey so much it physically hurts.
We can no longer "ignore" Jack's dwarfism and just think of him like any other baby. He's not. We're starting to get into the thick of his medical issues.  I am feeling less and less like a "normal" mother and more and more like a "special needs" mother.
I am beginning to feel hopeless about growing our family someday. I can't even take care of my one child - how am I supposed to take care of multiple? And that's IF we can even have another child who doesn't have major genetic issues. Our track record there is not so good. I'm scared that our 3 frosties aren't viable. I'm scared I'm incapable of conceiving a healthy baby. I'm scared that if we were to chance it and get pregnant again someday that we would have to go through hell again and say goodbye again. But I'm scared not to try. I'm scared that I will never feel like our family is complete with just Jack. I'm scared another child would cause my husband to have a mental break. I'm beginning to become convinced that my life will NEVER come close to the way I pictured it would be.

I need therapy.