Katie and Nathan’s daughter, Claire, was diagnosed with a rare fatal condition called Rhizomelic chondrodysplasia punctata or RCDP.  Even though Claire’s life expectancy is unknown, Katie and Nathan love spending time with her and have found joy with her diagnosis.

Loving Your Child No Matter What

Diagnosis is Rare and Fatal

“At my 20-week ultrasound, we found out Claire was a girl, and then they said that her arms were measuring a little shorter and suggested we come in for a follow-up appointment four weeks later.”  Katie said. Not thinking it was a big deal, Kate and Nathan were blindsided by what they were told at the follow-up appointment.

Their doctor told them, “I’m really sorry, but she definitely has some form of skeletal dysplasia which is dwarfism.”  The doctor then proceeded to give them a print out about it and basically sent them on their way. 

“Everything is going to be different”

After receiving the diagnosis, Nathan described how he felt, saying, “It was a pretty big blow.  It was more just shock there for a little while, and then a lot of tears, then kind of being together just trying to understand the paradigm shift of a sudden knowing that everything was going to be different.” 

Having similar thoughts to Nathan, Katie explained, “..this is not what I had planned, this is not what I expected. ‘What did I do?’ goes through your mind..It’s totally irrational, but you go through those thoughts..It’s just really scary because we’ve never gone through anything like that before.”

Rhizomelic chondrodysplasia punctata 

Katie and Nathan received little to no information about their daughters’ condition.  Katie felt like they were left to do the research on their own. After turning to the internet, Katie said, “Then, of course, you spend hours and hours looking up things online, and you’re just kind of lost in this big haze; you don’t know what’s going on.”

RCDP is a condition that affects typical development of different parts of the body.  The major symptoms of the disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems.  Something that is common with this disorder is people often form joint deformities that make the joints stiff and painful.  

Nathan shared a sobering statement, “40% of the children with her condition don’t make it to their first year; very few make it to the age of 10.”  Katie added, “A child who lived 5 years in considered a long-term survivor.”

A typical day for someone with RCDP

Due to her medically complex condition, Katie, Claire, and Nathan are home-bound.  Katie shared that most of her day includes feeding, suctioning, physical therapy, laundry, paying bills, cooking and cleaning.  “I feel like I’m cleaning a lot because with a medically fragile child, you just have to make sure our house is clean because you don’t want to bring in any germs or anything.” said Katie.

Even though discussing her day made Katie realize how repetitive it can be, she said, “I love being with her.”  She doesn’t mind taking care of Claire and she “would take care of her 100 more years.”  

Joys despite a fatal diagnosis

When asked to share his joys Nathan said, “That’s way easy.  It’s just holding her and trying to get her to smile or laugh.  In the last few months, she is much more quick to give a smile than she was before, so playing with her is definitely the best.” 

Knowing their days are numbered, Katie said, “..just seeing the small things she does is monumental and brings you so much happiness.”

Realizing family is all that matters

When Claire was first born, Katie’s sister shared a thought with her.  She said that seeing Claire made her realize how much things don’t matter..“just that Instagram doesn’t matter, Facebook doesn’t matter, and it doesn’t matter that my house isn’t perfectly clean.  She just realized what actually makes you happy in life.” Katie shared.  

Advice to parents with a fatal diagnosis

Knowing your child is going to die is a very hard thing to come to terms with.  Nathan said he would tell other parents in a similar situation, “It’s going to be hard, but it’s going to be okay.  You’ll have a lot of hardships, but there are going to be so many joys so enjoy what you have now, and it will all work out, just keep going.”

Claire thought that when she had a child with a disability that’s all she would be able to see.  She said, “I wish I could go back and tell myself that my child has a disability and that’s it. You’ll forget some days because Claire is Claire; it doesn’t matter.  I wish I could go back and tell myself that or tell someone who has the same condition that you are going to have such a great time; they will just be your whole world.”

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