Dwarfism

One in a Million ๐Ÿ’š

Throughout the last year, I’ve learned so much about dwarfism from my own experiences and the experiences of many others. Since Nora’s form of dwarfism is the most common type, there is more (But still not a ton) information circulating around related to it. Achondroplasia is still very rare but common in the world of skeletal dysplasias. I’ve had the opportunity to learn about several other types of dwarfism within my circle of POLP. I wanted to share some information and personal stories with you.

This week I’d like to highlight Kneist. Kneist is also characterized by short stature, along with bone growth issues, hearing and vision problems in some cases. People with Kneist have a short trunk, shortened arms and shortened legs. Some individuals may have larger joints which cause pain and limited movement. For people who have Kneist, their bones are shaped differently and may grow differently. They have holes in their cartilage. They may have a flattened mid face, larger eyes, breathing problems and a cleft palate at birth.

Kneist is caused by a gene mutation known as COL2A1. This gene aids in the production of a protein that produces collagen which is important in the development of bone and connective tissues.

The gene mutation which causes Kneist is 1 in a million.

I’d like to introduce you to Bree. She has Kneist.

Bree’s dwarfism was a surprise. This is the case with many infants with dwarfism. No one is Bree’s family has any form of skeletal dysplasia. Bree is almost 2 and is growing and thriving.

From Bree’s mom, Areen:

“When Bree was born we were not expecting any of this. We entered into a new world. It wasnโ€™t just her skeletal dysplasia but the soft cleft palate, the hearing loss, feeding tube, and breathing difficulties. We had to deal with so much at first and didnโ€™t know what was happening. BUT we always kept our faith and knew that God created this beautiful baby girl and picked us to be her parents. We found comfort and strength in that. She has overcome so much. Sheโ€™s incredibly strong and resilient. Bree is going to do what Bree wants to do in her own way and time. We were told to put her in a neck brace and body brace at first. Because the specialist we first met had no idea about her condition. Praise God we researched and found the amazing team at Nemours Hospital. Sheโ€™s now mobile and able to do what most kiddos her age can do. In summary we love being parents and god has blessed us with 2 amazing girls. One has a form of dwarfism and the other doesnโ€™t. To see those 2 interact has been an absolute joy.”

Thanks to Areen for sharing her story.

For more information on Kneist, please visit:

nemours.org

lpaonline.org

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Dwarfism

Gifts ๐Ÿ’š

Among the many amazing gifts that Nora has given me, one of my most treasured is the POLP community. I’ve said it before and I’ll say it a billion more times…this social media connection has saved my sanity, boosted my confidence as a mother, opened my eyes, filled my heart with hope and wonder and soothed my soul on many, many occasions.

When Nora was born, I felt like I was transported to a secluded island and was left there to figure out how to survive. I was filled with so much love~a love that shared a room with fear, unknowns and more worry than I could imagine. We had a ton of love and support but no one who knew what we were facing. My POLP community provided me a map…a road…a path. Even though there has always been ups and downs, struggles and unchartered territories, it’s been easier knowing that I am not alone. That we are not alone. There are hundreds of parents who can shed some light and offer their own personal experiences. These parents showed me we can survive and all will be okay.

This Mother’s Day, I would love to shine a light on all the beautiful moms sharing this journey with me. Moms from all over the globe. Moms who spend days at specialist appointments. Moms who wait for a diagnosis or treatments. Moms who watch their little ones go through test after test. Moms who celebrate the little things. Moms with incredible strength and patience. Moms who advocate strongly for their children to have the best. Moms who travel for hours to get the right care. Moms who balance work, home and family while caring for a child with special needs. Moms who question themselves. Moms who must question their doctors. Moms who often have to watch their babies in pain or discomfort. Moms of babes with rare disorders. Moms who love beyond measure. Moms who see the need to celebrate all accomplishments. Moms who have the extra challenge to educate others and spread awareness. Moms who worry. Moms who applaud and support other moms when they need it most.

Brigid and Logan

Ariel, Carter and family

Amber and Max

Valerie and Matthew

Natalie and Emmy

Wyven and Susan

Nicole and Elowen

Amber and Kingsley

Martina and Cecelia

Courtney and Gracie

Morgan and Lilly

Anna and Stone

Jamie and Vera

Jennifer and Lukas

Vanessa and Miliano

Addison and mommy

Nicola and Kylan

Rebecca and Leighton

Brittany and Arlie Grace

Areen, Bree and big sis

Hollie and Leah

Stef and Lucy

Thank you fellow MOLP. I am forever grateful for you. I would be so lost without you. Happiest of Mother’s days to you all ๐Ÿ’š

Dwarfism

Big plans ๐Ÿ’•

Now that Nora is more mobile, we often hear comments about her unique and amazing ways of getting around. Due to the hyper mobility of her joints and joint laxity (loose joints), hypotonia (poor muscle tone), limited elbow extension and possible reduced hip flexion, as well as her shorter limbs and larger head, Nora has had to figure out how her body moves and what works best for her. Watching her use her body in ways most of us would think of as painful, is pretty awesome.

I worried a ton about her physical limitations. I wondered how delayed she may be. What would be harder for her? How can I make it easier? We were told not to expect crawling, standing, or walking at the typical times. Nora has her own timeline but has astounded us every step of the way. Her way may be unique or different but it works for her. She is meeting milestones. My little love is growing. As she becomes more aware of what her body can do, she is gaining strength and confidence. Not only does she have to maneuver differently but she also has to work twice, sometimes three times as hard as her average height peers. I am in awe of her everyday.

Nora’s degree of flexibility doesn’t come without concerns. This hyper-mobility and joint laxity gives Nora a way to move but also can lead to joint issues down the road. Her joints in the knees, hips and shoulder sometimes click when she moves. She is at higher risk for dislocation (much less now that she’s not an infant), and putting pressure in these joints can be difficult for people with achondroplasia. Arthritis, hip dysplasia, joint stiffness and pain are common for people with this type of dwarfism.

Nora’s bones grow differently and some are shaped differently which impacts the function of the joints at times. Some people with achondroplasia go through life virtually pain and symptom free while others require intervention or therapies to help alleviate severe joint pain or issues.

I love watching Nora figure out the mechanics of her body. She is becoming more and more aware of what her body can do. Can’t wait to see what she will do next. I think walking is in her plans ๐Ÿ’•

Dwarfism

This is Toddler-hood

It occurred to me this week that I no longer have a baby.  We are in full blown toddler-hood.  I know it is totally cliche but, I can’t help but exclaim, “Where did the time go?”  How is it possible that 15 months have gone by.  Over 60 weeks.  Around 420 days.  It truly seems like yesterday and forever ago all at once that my little love joined our family and started us on this amazing journey.  Our 5lb 11oz tiny nugget of a human graced us with her presence.  The moments seem to blur but I remember that day so vividly.  So much fear and worry.  So much relief.  So much wonder and many, many questions.

Our girl has been such a joyful tour guide.  Nora has made every step of the way an adventure and has left us wanting more and more.  It’s like she’s had the map all along. She’s exactly where she’s meant to be~perfectly placed in our hearts.

Toddler-hood. I remember this stage well. This time around every moment of it so far is a reminder that everything is ok.

At this stage, parents often hear, “Watch out, here comes trouble!” or “Better get toddler-proofing!” and “Now is when the fun starts” (in a sarcastic, dreadful tone).  I welcome it all.  Nora is doing so many unexpected things and I wouldn’t change it for the world.  I am happy to chase her around and tell her “No.” ten thousand times a day.  I am over the moon excited to watch her sassy side come out and for her to test limits.  All of this tells me that she is developing, growing and changing.  It’s all good. Although I’m missing my baby, toddler-hood reassures me that all is well. 

Nora is a full blown toddler.  She is talking and working so hard at walking.  She is climbing and testing.  My little love is learning new words every day and understands absolutely everything we tell her.  Nora knows how to communicate and is receptively taking it all in.  She is observant and interested.  Playing with her big bro and getting tickled is her favorite. She is funny and engaging, social and snuggly, slobbery and messy, playful and smart.  I honestly wouldn’t want it any other way. Her big blue eyes and contagious smile still light up any room she’s in.

Today Nora used words and gestures to play with her developmental specialist.  She said, “All done.”  when she wanted to clean up and try a new toy.  She pointed to toys she wanted and made choices.  Nora cleaned up blocks and cheered and clapped when she was done.  She also purposely threw some blocks and snacks and declared, “Uh-oh.”  My little love showed her therapist how to do, “Shhhhh…” by putting her finger in her nose and blowing air out of her mouth with a big smile.  She greeted her therapist at the front door and waved goodbye when her session was all over. Nora has changed so much lately.

I don’t know how it happened, but my little love is a toddler now.

 

Dwarfism

We will follow you ๐Ÿ’•

My little love started Early Intervention at 2 months old. She automatically qualified for services due to her diagnosis of Achondroplasia which is considered a medical and physical disability. I never really saw it that way and still don’t really see her dwarfism as a disability, however, she is differently abled in some ways and these services can only benefit her.

I was skeptical at first. Nervous. Worried.

The first day of Early Intervention was hard. I was excited and anxious to meet Nora’s new providers but also worried. What if they don’t know anything about Achondroplasia? What if they don’t understand? Maybe they won’t listen to me. Will they know how to hold her? Will they push too hard? Maybe they will expect her to do things her body is just not made for.

I couldn’t have been more wrong. On that first visit I realized they wanted to learn from me. They wanted to learn from Nora. She would be our tour guide. They had little experience, but a little is more than none. They assured me Nora was an individual and that is how she would be treated. Also, they defaulted to me for information and expected to follow my lead as well as Nora’s. My girl would lead the way. She would show us what she needed and when she needed it.

It seems that physical therapies are a controversial issue with some specialists and LPs. Many believe that PT/OT therapists will force a child with Achondroplasia to do things their bodies just cannot physically manage. For example, most infants with Achondroplasia are born with some form of hypotonia (floppiness or extremely low muscle tone), hyper-mobility, and spine and neck concerns. They also cannot fully extend their arms and can have loose or clicking joints. Weight bearing too soon or sitting up before ready can cause harm.

This was not the case with our therapists. If they wanted to push and we were not ready, they did not. Nora was allowed to progress at her pace with suggestions and gentle encouragement. They took her lead. My lead. They didn’t push. Nora has become unbelievably capable of adapting to her surroundings. Watching her now figure out how her body works is amazing. Her strength over the past year is astounding. My little love surprises us constantly.

So, fast forward to this week. Nora had her 1 year EI evaluation. Since she automatically qualifies for services, it’s just a formality and a way for us to see her progress on paper. She is social and communicative and smart and sassy. Her development is right on target. Even with all the things she has been through, she is learning and growing and becoming herself. We have added more OT to address her gross motor skills since she will always be working with low tone and shorter limbs. We will continue to allow her to figure herself out and how her body works with her environment and physical limitations. Her therapists adore her and enjoy watching her grow.

Early Intervention has been a huge success for our girl. It just adds more love and support to Nora’s life.

Dwarfism

Our place in this world

This past year, I’ve spent a lot of time and energy thinking about Nora’s future and her place in this world. Her dwarfism does not and will not define her but I hope it is a part of her she can embrace as she gets older. I hope those around her, wherever she goes and whoever she chooses as her circle, will always embrace that part of her as well.

As her mom, I constantly worry about how others may treat her and how she will feel about herself. Of course, in my eyes she is a light and a force. She is joy and laughter, smiles and sparkling eyes, strength and beauty. She is smart and funny. Nora is love.

I am her mom. What I see matters. A lot. Right now. But someday, she will see herself. I hope she sees what I see. Always.

I am sure there are many moms of children with differences who cycle through this worry of the future. I know I’m not alone. I love some of these moms and have learned from some of these moms. Many of these moms have been my greatest mentors and they don’t even know it. We all worry and fear the worst. We all want what’s best for our child. Happiness, success, love, compassion, kindness, confidence and self love (just to name a few things).

At this point in time, we are in a safe place. Nora doesn’t question her differences. Even still, it’s hard not to look into my little love’s eyes and think about the years to come. The search for our place in this world can be quite a challenge.

Luckily, as a family, we have all joined the LPA community. It may seem silly since Nora is so young but honestly I think it was the best decision we could have made. I hope throughout Nora’s life, the LPA will continue to be a helpful resource for her. We have already met some wonderful people and made great connections. I want Nora to grow up knowing this amazing group exists and that she can always find someone who will understand her experience. I never want her to feel alone in this world. Not only will Nora find support within the LPA but it has also helped all of us find our place. This stop on our journey to Holland has been one of the best.

for more info or ways to donate/help visit:

http://www.lpaonline.org

Dwarfism

Coloring Our World

She’s so cute!

Wow, look at those beautiful blue eyes!

How old is she?

Look at those rolls!

That smile is adorable. How precious!

Such tiny hands.

This is how most interactions related to Nora begin. I love it. For the most part people are kind and thoughtful. Nora smiles at everyone and will keep waving until you notice. She has this light around her that brightens even the darkest room. She adds color to our world. It’s hard not to smile when you are around her, even on the busiest and most challenging days.

Sometimes conversations go deeper…

Wow! She’s a little person. Does that run in your family?

How tall will she grow to be?

Will she have intellectual disabilities or delays?

Again, all wonderful questions.

I love sharing Nora with others. I also love sharing all the knowledge I have soaked up over the past year or so. Honestly, no question is stupid (well, unless you lead with disrespect or anything less than genuine curiosity and kindness ๐Ÿ˜•). Honestly, we have not come across that scene often in Nora’s short life.

Seriously though, please just always ask.

Don’t wonder or stare.

Don’t assume or point.

Just ask.

I will do my best to be sure you are well informed and that you leave the conversation enlightened and more comfortable than when it began.

It’s happened. We’ve been asked all of these questions and many more. And, I wouldn’t have it any other way. The more people who take the time to learn and understand, the more authentic kindness and joy my little love will face each and every day. It’s not really my job to make YOU feel more comfortable with my daughter’s differences but I will spend the rest of my life doing so anyway.

One of the things I am often asked about is Nora’s cognitive capabilities.

Will she be delayed?

Will she have academic challenges?

Will she be on par with her average height peers?

I’d like to take some time to share my knowledge about this and clear up some misconceptions.

Nora has achondroplasia. The random genetic mutation which affects the way her bones grow and develop does not affect her cognitive growth and development. She is a 1 year old doing all the 1 year old things. My little love is talking and playing. She loves books and food and her big brother. She follows directions and understands so much. Nora makes what she wants known and sings in the car. Her cognitive development is right on par. She has always been very social and loves people (as long as they don’t try to hold her ๐Ÿ˜‰).

There are some things that can effect language and speech development in infant and toddlers with achondroplasia. Persistent fluid in the middle ear, recurrent ear infections, sickness, and a strong focus on keeping up physically can delay speech. At times, prolonged and severe hypotonia can lead to some difficulties with speech and language development as well. Some infant and toddlers may suffer from increased cranial pressure due to a build up of fluid in the brain, spinal compression and ventricular problems. This may also lead to some delays if not treated. These are all things we have to monitor closely but, she is truly just like any other 1 year old, just much smaller.