Dwarfism

Donโ€™t Mess With Mama Bear ๐Ÿ’•๐Ÿ’•๐Ÿ’•

When your child has a rare genetic disorder, you become the expert. You have to. Research consumes you. Conversations with other parents make it bearable. Appointments are part of the routine. Sometimes, as the parent, you truly do know more than the doctor.

This can also lead to constant worry about the right decision being made~often wondering if we missed something. Did we make the right choice? I’m learning that just because things are going well and Nora is progressing, there’s a lot beneath the surface we need to watch closely. I’ve learned this from the experts. The parents.

The goal of this post is to applaud all the parents out there who advocate, push, question and decide. It’s a hard position to be in and the back and forth can make one crazy. When your child has a rare disorder, you are the expert and feeling as though your brain is in a million little pieces is part of the territory sometimes.

Many POLP travel all over the country to consult with specialists who are experienced with treating infants and children with dwarfism. We are not there yet, but it is a possibility. Many POLP fight for months, even years, to get genetic testing done to confirm diagnoses in order to get the best treatment for their children. Many POLP subject their children to one more test, one more MRI, one more sleep study because they have a gut feeling and they are right. It’s heartbreaking at times.

Just last month, I pushed for Nora to get a scope and a hearing test, which she wasn’t supposed to have until after she turned a year. It was recommended to do it sooner rather than later by other POLP and a specialist with whom we do not consult. My gut told me it didn’t make any sense to wait. We know that babies with achondroplasia have a tendency to build up fluid, are at high risk for chronic ear and sinus infections, may develop hearing loss and could possibly have structural abnormalities in the inner ear due to issues with bone growth or deformities. But, the specialist thought it was pointless because she responds and is talking. The test showed mild hearing loss and fluid sitting in her ear due to the chronic cold/viruses she’s had for about 3 months. Now, we can keep an eye on it, check frequently for ear infections and test again in a couple of months when hopefully, the fluid is cleared. I’m not sure why we would wait for my little love to have a hearing and language problem before checking. It was a fight I wasn’t willing to back down from. I was right. I’m glad I listened to the experts out there.

There are many more severe examples that I have come across. Some new parents are not even informed about the common treatment practices from birth for infants with achondroplasia. Nora had X-rays, blood tests, an ultrasound, an MRI and a sleep study all within her first 4 months of life. It was a lot and it was hard but it carved out a path for us. It gave us direction and confirmation. It gave us some peace of mind.

In other countries, the medical expertise related to dwarfism is minimal. That is a scary place to be. Across the globe parents are urged to treat with growth hormone therapy even though skeletal dysplasias are caused by a disruption in bone growth and the conversion of cartilage to bone. Hormones can do nothing to change that. Parents are relying on the expertise of their doctors but the rarity of the disorder and lack of knowledge leads to confusion and poor treatment.

Overall, I am very happy with Nora’s team. Some have more experience than others and that’s okay, as long as we feel listened to and there is an abundance of communication regarding her treatment. Our pediatrician listens to us and let’s us take the lead when it come to issues related to achondroplasia. If she doesn’t know the answer or best course of action, she consults with others who may have more experience. She calls us at home after hours to give us results and forwards reports. When Nora was born, she was upfront about never having a little person as a patient. She was willing to learn with us and join us on our trip to Holland. That’s all we can ask.

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Dwarfism

Thankful โค๏ธ

Last November, we had just heard the news that our little love may be born with a type of skeletal dysplasia. We didn’t have confirmation or specific details, but there was a lot of speculation. Most of last November was spent in a panic, wondering “why?” And “what if?” We only shared it with each other and our closest family members. We were so unsure and didn’t want to worry anyone. Also, we were not exactly sure how to process this type of news. Last November we were living in the unknown. A place of fear. Last November, the anticipation was everything.

This November, we get to watch our little love each and every day and give thanks for her life. Her smile. Her giggles. Her determination. Her love. Her beautiful big blue eyes. Her breath. Her voice. Her strength. Each day she gives us a gift. For that, we are very thankful.

This November, we worry a little less.

This November, we are so, so thankful.

There are no words really to describe how thankful I am to be a part of a community of parents who celebrate big and small each and every day. I’m not sure what I’d do if I was unable to open Facebook and see all the posts, advice, photos, updates, suggestions and cuteness. My POLP friends made this year bearable. They helped me see through the fog of the unknown that it would be okay. No concern seemed to silly, no milestone too small. I am forever thankful for that.

Being part of this community of strong advocates, invested and loving parents, supportive cheerleaders and well educated experts has brought me so much.

When I asked this community to share what they are thankful for, the responses were relatable, compassionate, real and thoughtful. I thought this was the perfect time to share this with all of you.

***thoughts and words shared with permission***

“I feel thankful for all the challenging moments this year, each one has been full of sadness, despair, loneliness, anxiety, painful decisions and a few times complete darkness. It is because of this Iโ€™m proud of the person I am today, itโ€™s because of this, Iโ€™m proud my children are the brave facing this world.”

“I am so incredibly thankful for my wonderful husband who didnโ€™t skip a beat when we got Dellโ€™s diagnosis. All the people who carried me through the first months. Profoundly grateful for all my new mom friends and for Dell who teaches me how to be a mom and a better person everyday.”

“I am beyond thankful that my little Claire bear is healthy and thriving. I was so scared of the unknown when she was born, but she is doing amazing. I’m also thankful for her medical team- I’ve never been to so many doctor appointments in 10 months, but at each appointment Claire is getting exactly what she needs. Her physical therapists are so helpful with ways we can help her development those gross motor skills too. I don’t know what I’d do without my support system either- my husband has been my rock and my older boys absolutely dote on their little sister. Crazy to think of life before her ๐Ÿ’“๐Ÿฆƒ.”

“I am thankful for POLP that have helped educate me on how to best meet the needs and care for my daughter, and mostly show me how wonderful their children are. I am forever grateful for my selfless husband who loves and supports our family. I am thankful for the opportunity to stay home with my girls and watch them grow. :)”

“I am thankfull for this community, Oscar’s diagnosis brought us a whole new world, his presence is enriching in every way. I am thankful for my family and friends, who are there for us when we are down, who are there when we are treated wrong, who can celebrate with us. It brought us all more together. One year ago I did read here one of the moms saying they wouldn’t change their child for the world. I did not understand. Now, I am grateful that I do.”

“I am thankful to have a happy, healthy, amazing, handsome son that is growing up so fast already. So far all the tests they gave our son he has passed with flying colors. So, we are thankful for our healthy son.”

“I had no clue during my entire pregnancy that she had Achondroplasia. The day she was born she was perfect to me. Yet the doctors had concerns. It didn’t matter to me or my other children that she was a little person. She has taught us to be more understanding, more patient, and definitely how to love beyond limits! She is such a happy baby, with huge blue eyes and the most precious smile in the world!! We have faced some challenges this year, and she has had surgery that terrified me as her mama, but she is was a rock star and is my inspiration to be an all around better mother and person.”

Thank you to all the new POLP I have come to know. I love that there is a special place where parents from all over the world can share their journey and celebrate differences.

Dwarfism

This Is Ten Months ๐Ÿ’•

10 months. I’m not sure how we got here. It’s so hard to believe. It’s amazing to see how much my little love has grown and changed.

10 months.

10 months for average height babies generally means crawling, pulling up, standing, sitting unassisted and for, my son, even walking independently.

All babies are individuals and shouldn’t be compared to others. I’d be lying if I said I never worry or look at the charts. However, I’ve learned to think about Nora’s physical, gross motor development differently.

This is ten months (for us):

Playing Peek a boo. Mastering the army crawl. Yelling just for fun. Saying “Uh oh,” “Dada,” and “All done!” Giving kisses. Hearing tests. Biggest brightest blue eyes. Tiny fingers. Tiny toes. Feeding the dog. Love. Getting four teeth at once. Pretending to throw her cup overboard. Finally reaching those adorable piggies. Reading books. Dancing with or without music (she has the best dance moves). Responding to basic phrases. Clapping feet. Ortho. Happiness. So many snuggles. “Helping” big bro with his homework. Discovery. Sleep studies. Shaking her head “no.” Signing “more.” Happy wiggles. Crying whenever anyone holds her and mom is in the vicinity. Joy. Super flexibility. Rolls on rolls on rolls. Squealing with happiness while playing with her brother. Early intervention. Favorite car rides. Curiosity. Getting stronger. Learning. Pulling up to sit when at an incline. ENT. Clapping. Playing the drums with all her toys. Loving food. Waving to strangers. So many smiles.

I am in awe of this girl~my little love. She is so much more than I ever expected. Now, if time could just slow down a bit ๐Ÿ’•

Dwarfism

Be A Link In The Chain

***Information and names shared with permission.***

This week’s blog post is inspired by a 7 year old boy whom I’ve never met and his amazing family. Evan is the son of an old high school friend. We don’t know each other personally but he has impacted me in great ways. I hope some day my family can meet Evan and his family face to face but, for now, we will continue to follow each other on social media.

Evan and my son Nate have a lot in common. They are the same age and in the same grade. Both boys are awesome, caring big brothers. Evan and Nate have giant hearts and very sensitive, empathetic personalities.

At Evan’s school, they have a program that focuses on differences and learning about others. Evan had the opportunity to choose a disability or difference he wants to learn more about and he chose dwarfism because of Nora. Of course, when I heard this, I was excited and touched. My eyes filled up and my heart swelled. I LOVE that he wants to learn more about Nora and her differences. Also, I LOVE teaching others about my little love.

Over the past 9 months, I’ve been asked many times about explaining dwarfism to young children. I’ve been asked if there are books or readings that are helpful, how to word it in a way that’s simple for kids, and what’s the best information to share. So, I thought I would share some of my favorite books or books that have been recommended related to dwarfism, being small or just celebrating differences. The holidays are coming…books make the best gifts and it’s never too soon to teach kids about empathy, differences and understanding. I invite you to share your favorites as well.

The Smallest Girl in the Smallest Grade

Strong and Mighty Max

Little Elliot Big City (series)

Not Too Big, Not Too Small…Just Right For Me

Stand Tall Molly Lou Melon (can’t wait to read this one)

Spaghetti In A Hot Dog Bun

Not Your Typical Dragon

Elmer

Horton Hears A Who

There are many more books out there and I look forward to adding to this list.

Thanks to Evan, a small group of kids will leave school one day knowing more about dwarfism than they did when they woke up that morning. Thanks to Evan, these students will learn something new and be able to pass it on to others. They are the start to a chain of acceptance, understanding, and kindness and Evan is the first link. I hope Nate and Nora meet hundreds of Evans in their lifetime โค๏ธ

“Educate early and often.”

Dwarfism

Show and Share ๐Ÿ’•๐Ÿ’•๐Ÿ’•

My son wanted to bring his baby sister to school since the day he met her. He settled on bringing pictures to share with his class at the start of this school year.

As Dwarfism Awareness Month got closer, I thought it would be a good time to let Nate share his baby sister and spread awareness at the same time. He was ecstatic. We came up with ideas and activities to help his classmates understand dwarfism but, more importantly, to celebrate differences and spread kindness.

I was also excited. This was an opportunity~a chance to influence a group of 7 year olds. It was a chance to make an impact. Spread kindness. Educate. Enhance understanding. Open minds. Build awareness of self and others. Share beauty. Celebrate differences.

This group impressed me. They had amazing and thoughtful questions brought about by innocence and authentic curiosity. We read a book (which I highly recommend), Not Too Big, Not Too Small. Just Right For Me. This book is wonderful. It was created by a mother and father in honor of their daughter with the purpose of spreading awareness and raising funds. It has facts and illustrations, humor and powerful messages. The kids seemed to really enjoy it and it fostered a worthwhile discussion. They asked questions about dwarfism in general, being small, and about Nora. The kids were so respectful and focused. Many students shared their differences and showed a lot of empathy towards the challenges people with dwarfism may face. They really loved when Nora started playing and talking. Her smile, as usual, brightened the room.

Our visit ended with an activity. Nate and I asked the kids to write and draw about what makes them special. It was so cool to watch each of them share with the classmate next to them. They were talking while doing this and learning a little bit about each other along the way. I loved how much thought they put into the activity. Some kids talked about a physical characteristic that stands out such as the color of their hair or wearing glasses, while others drew pictures of something that is hard for them. A few kids also shared something they are really good at or interested in that others may not like.

Finally we handed out a kindness bag with a poem and kindness coins to share with others. We had a discussion about treating all people with kindness and respect.

My goal in doing all this was, of course, to educate and spread awareness about dwarfism. But, the bigger intention was to start this group thinking about empathy, tolerance and understanding now. Educating early and often is key.

I will never understand what it is like to be a little person but I will always know what itโ€™s like to be the mom of a little person. Itโ€™s not Noraโ€™s responsibility to make the world more comfortable with her differences and my hope is that she never feels she has to change for anyone. However, as her mother, I will keep educating others so my daughter can feel more comfortable in this sometimes messed up, unfair world. I have always believed in celebrating differences. Now, it’s more important than ever.

Dwarfism

Dear Parents ๐Ÿ’•๐Ÿ’•๐Ÿ’•

A letter to new parents of an infant with Achondroplasia…

Just so we’re clear, I am still very new to this and learning more everyday. But, I do feel like I am in a very different Holland than 9 months ago. I hope by sharing our journey so far, we can help others embrace this new chapter in life.

Dear parents,

First, I’d like to say congratulations. You are about to embark on a journey like no other. Your trip to Holland is just beginning. Pack your bags for this wild and amazing ride. There will be joy and happiness, fear and anxiety, worries and a love you could never imagine. You’re baby is here and now some of the unknowns will become the familiar.

Now that your baby has arrived, please try to enjoy every moment. From the second you meet your new bundle of joy through the first several months of life, it will feel as though your days are consumed by doctors visits, poking and prodding, tests, waiting and concern. It will seem like a blur. This leg of the journey may feel daunting and overwhelming. Those feelings will pass. You will go through the motions while trying to process your new life. Your exhausted body and mind will find it all so hard to put together. Don’t try and complete the puzzle all in one day. While you’re trying to make all the pieces fit, you may miss out on some pretty impressive things. It’s a time you can’t get back no matter how hard you wish and hope. Breathe it all in. It truly goes so fast.

You will worry. You will cry. You will wonder and fear the worst.

I’m here to tell you, everything will be okay. You will get through it.

I was once in the place you are now. Some days, I still go back there. I take a detour every once in a while to the place of wondering, analyzing, questioning and wishing. When I go there, I just remember how far we’ve all come and it brings me back to now. It’s hard to be in the present sometimes. There’s always too much room for the future…

Over the past 9 months, I’ve made more room for the now. I still think about the future and all the challenges my little love will face. The world is not made for people of short stature. It’s hard. The world can be cruel. But, there is also love and kindness, empathy and peace. Your baby will fill your now with happiness and joy.

It took me about two months to reach out to others who have been to Holland. I wish I had done it the moment we were told my little love had any chance of being born with skeletal dysplasia. I wasn’t ready. It is important to seek out people who have been there. People in the midst of this journey. When doctors and specialists filled the room with all the things my beautiful girl wouldn’t be able to do, the people living it set me on the right path. The positive. Parents who already knew how wonderful the journey would be.

Your child will have differences. These differences are just a part of who she is…a wonderful part.

She will be strong.

She will be beautiful.

She will be brave.

She will be kind.

She will be small.

She will be loved.

Enjoy the journey!

“I am brave, I am bruised
I am who I’m meant to be, this is me
Look out ’cause here I come And I’m marching on to the beat I drum
I’m not scared to be seen
I make no apologies, this is me”

The Greatest Showman

Dwarfism

Q & A

If you’ve been following our journey, some of this post may be a bit repetitive. However, I feel the information is important and repeating it can’t hurt. I’d like to take some time to answer some of the common questions I am often asked or that I hear throughout the POLP community. Since October is Dwarfism Awareness month, this is perfect timing. I plan to use this month and every opportunity given to me to spread awareness and help other parents of infants with dwarfism. I wish I had more answers when we first learned about Nora’s diagnosis. It’s been quite a learning experience and I love sharing it with all of you. If one parent reads this during a scary and confusing time, it’s worth it.

Question: Does dwarfism run in your family?

Answer: No. Nora’s dwarfism is the result of a random spontaneous genetic mutation at conception. Anyone can have a baby with achondroplasia.

Question: Will Nora develop cognitively just as her average height peers?

Answer: People with dwarfism have typical intelligence and cognitive abilities. If Nora develops cognitive complications it is most likely not directly related to her dwarfism.

Question: How tall will Nora be?

Answer: Well, just as with all children, we won’t know for sure until she is older. The average height for a female with achondroplasia is 4’1″

Question: What is the best way to address someone with dwarfism?

Answer: The best way, just like for anyone else, is to just use his/her name. People with dwarfism are people. They are just smaller. Little person or baby/child/person with dwarfism is also acceptable. Please refrain from using the word midget to describe someone with dwarfism. It is considered derogatory, disrespectful and mean. Labels of any kind are unnecessary.

Question: What causes Achondroplasia?

Answer: The gene that promotes bone growth in the long bones was mutated at conception. Nora’s bones don’t ossify (turn cartilage into bone) the same way. The FGFR3 gene instructs your body to make a protein necessary for bone growth and maintenance. Mutations in the FGFR3 gene cause the protein to be overactive. This interferes with normal skeletal development.

Question: What are some of the health concerns related to Achondroplasia?

Answer: The severity and amount of health complications vary from person to person. Some of the medical issues include, central and obstructive sleep apnea, hydrocephalus, severe spinal kyphosis, scoliosis, high risk of SIDS, spinal/cervical spine compression, adenoid and tonsil removal, cervical spine fusion, decompression surgery, chronic ear infections, ear tubes, tiny airways, dental crowding, leg bowing, chronic pain, hypotonia, and ligament laxity. Depending on the severity of some of these medical issues, there are motor skill delays.

This post only touches on several questions. There are many more facts to share during the month of October!!!

Some updates on my little love ~ Nora has been practicing her wave (she is no longer simply waving at herself๐Ÿ˜). She is carrying on conversations and loves to sing. Meatballs, spinach, pumpkin muffins, bananas and hummus are some of her favorite foods right now and she’s working hard on feeding herself. Nora continues to share her contagious smile with everyone she meets. She shines so bright and fills the room with joy ๐Ÿ’•