Our Story

[WARNING: This is gonna be long. There's just no other way to tell the girls' story!]

November 2015

I am Gwen, wife to Scott, mom to Cal (age 17), Claire (age 14) & Lola (age 9). We also have two whippets named Romeo & Cash. Cash just so happens to be Lola's bestie! Search #CashandLola on Instagram for pics of these two (My handle is @gwennieh over there). We live in Kansas, U.S.A. Most people are curious about the girls, and I hope this post will help answer some of your questions.


Obviously since we had Cal first & he is typical, we were unaware that there was any genetic risks associated with having more children. We had a normal sonogram with Claire when I was 19 weeks pregnant. Everything was right on track, and they didn't schedule any further sonograms. She was born at term, and she weighed 6 lb. 12 oz. The first comment I made was, "You forget how tiny their little heads are!" Doctors were rushed into the delivery room to examine our baby girl, whose Apgar scores were 9 and 10. At one point, our OB-GYN said, "There are some problems with Claire..." and in true Gwen fashion, I said, "Well, we'll fix them!" He said, "I'm not sure you can..."

October 15, 2001 ~ Claire Elise

Our world spiraled out of control for the next few months as we searched for answers. After many misdiagnoses, much drama, and fear/worry out the yin-yang, we finally got some real answers about what was going on. Claire was diagnosed with MSG (Microcephaly with Simplified Gyral Patterns) by Dr. William Dobyns. He said she also had spastic quadriplegia cerebral palsy, epilepsy, and CVI (Cortical Visual Impairment). He basically told us he felt that her condition was likely genetic with a 25% chance for recurrence. He said he would help us find the gene(s) responsible so we could go on & have "healthy babies." He drew blood from Scott, Claire & me, and he told us that we'd need to start her on medicines to control her high tone/spasticity, reflux, and seizures. He said it would be a guessing game until we found the right combination, but that if we did EVERYTHING he said, Claire would likely not live to be one year old. He said she had FTT (Failure to Thrive), and her body was wasting away. He urged us to sign a DNR (Do Not Resuscitate) so when she fell ill (likely with pneumonia, which she would eventually die from), we wouldn't be too emotionally involved to let her go.

We decided these were shitty odds (our daughter maybe only living to be 1 year old), so we basically did the exact polar opposite of what the doctor suggested, as we didn't want the same end result. We took Claire home, didn't start her on ANY meds (as we'd seen her have seizures just from being given Tylenol and Benadryl -- we knew her little system was *very* sensitive), and we started down a natural medicine path. Time passed, and with each cold or illness, we feared it was the beginning of the end. Each time, my pediatrician reassured me, "Gwen, it's JUST a cold! She'll be fine!" And each time she was. We got through the first year, and we started having more hope. Claire had proved time and again that she wanted to be here.

4 years later, after Dr. Dobyns still had not located any genes responsible for Claire's microcephaly, we decided to have another baby. I know this is confusing to many of you. But no genes had been found. It easily could have been an isolated incidence. In fact, one geneticist told us that we had a 75% chance OR GREATER that all would be fine. We knew that we would be given the child that would perfectly complete our family regardless. I was so careful the whole pregnancy. I didn't dye my hair or paint my nails. I never missed a prenatal vitamin. I ate an organic diet. I didn't run. I didn't bounce. I did everything "right." We just knew all would be OK.

We did serial sonograms through our entire pregnancy with Lola, starting at 6 weeks, and continuing every 4 weeks. Everything was perfectly on track the entire time until 22 weeks gestation. At that visit, Lola's head and body measurements were lagging approximately 2 weeks. The doctor assured us this was still within "normal limits" and told us that we would need to wait 4 weeks to find out if Lola was also affected. That was the longest month of our lives. Upon our return at 26 weeks gestation, we discovered that Lola's head was now 5 weeks behind. Microcephaly was confirmed. We were devastated initially. How on earth could we someday bury TWO children? It was a rough 24 hours. If we knew one thing for sure, it was this -- We already knew how to care for Claire, she brought us infinite joy, and we had learned things from her that we could never have learned had she been born without a disability. We never wanted to go back to the people we were before she arrived. We feared that we took Cal's babyhood/childhood for granted. We could do this. It would be challenging, but there was some reason we were meant to parent TWO profoundly affected children.

Lola was born a month premature weighing 5 lb. 10 oz. Her birth was fast, dramatic, and perfect -- the exact polar opposite of Claire's birth almost 5 years prior. No one mentioned the words "microcephaly" or "special needs" or "cerebral palsy." They all just spoke with love about our beautiful daughter. No neurologists or geneticists were permitted in the room. All of our testing 5 years prior gave us virtually NO answers. Why subject Lola to all that if there was nothing we could do to help her besides the usual therapies and surrounding her with love? We took her home & loved her just as we loved Cal & Claire.

September 25, 2006 ~ Lola & Cal

The two little girls who were never supposed to reach age 1 turned 10 and 15 in 2016. They are the strongest individuals I've ever known.

The gene(s) responsible for the girls' microcephaly STILL haven't been found, 14+ years later. (Hence the reason we could not do amniocentesis during Lola's pregnancy, not that we'd have done anything different even if we knew...) We recently have toyed with doing Whole Exome Sequencing, but we're not sure our goal for doing this. Since their microcephaly is autosomal recessive, both the mother and father have to carry this very rare gene. Somehow, both Scott & I do. Even if Cal were a carrier, he'd have to marry another carrier in order to pass this on, according to geneticists. Is it worth our time, TONS of money, and subjecting the girls to a very stressful blood draw in order to MAYBE get answers (but possibly get none)? So far, we aren't sure the possible benefits will outweigh the risks...

Since their births, both girls have been relatively healthy. Both were also given a dwarfism diagnosis, and they remain VERY tiny despite perfect nutrition. Claire is approximately 36" tall and weighs 24 pounds. Lola is approximately 24" tall and weighs 12 pounds. Claire had a g-tube placed at age 3.5 years after she became chronically dehydrated due to her inability to take bottles very well plus getting Rotavirus. This has literally been a lifesaver and a godsend for her. We occasionally use an NG tube with Lola when she is sick, as she is too fragile to go under anesthesia at all. We were told we'd likely lose her during any type of surgery. Lola eats very well by mouth. She drinks bottles and alternates her feedings every 2-3 hours with organic, fresh fruits and veggies which we food process to a smoother consistency for her to eat. She drinks a goat's milk formula which is the ONLY formula her sensitive body can tolerate. Claire is fed a blenderized organic, raw, fresh diet through her g-tube during the day and is given goat's milk formula during the night.

September 30, 2015

We use many natural supplements, essential oils, homeopathics, vitamins, and minerals with both girls, and they are thriving. They receive regular chiropractic care and have used craniosacral therapy as well as hydrotherapy and hippotherapy in the past. They receive services at home to optimize their lives -- PT, OT, Speech/Technology, Vision Therapy & a teacher, as well! We are hoping that these therapies will help further the girls' development (which remains around a newborn level) and also help with their increased tone/cerebral palsy, as that seems to be one of their main issues. Claire has severe scoliosis, and Lola has severe kyphosis. Both girls are not candidates for surgery for their backs or their dislocated hips, due to their extreme sensitivity to anesthesia and their lack of body fat. However, we have an AMAZING team of therapists who bring out the best in our girls & who love them like their own. We are so blessed to be seeing tiny gains with both of them!

People ask all the time about Lola's tiny rubber chicken. Due to both girls' tone, they have trouble holding things in their hands. Their thumbs are tucked inside their fists, and they don't oppose their fingers properly. On a whim, we put this 3" rubber chicken into Lola's hand recently, & she held him all damn day! Our girl doesn't want a baby doll or a teddy bear or a stuffed giraffe. She wants to cuddle a dwarf rubber chicken every day. Somehow, that doesn't surprise me! We call him Bok or sometimes Feta because her palms stink like feta cheese, and consequently, so does her chicken. HA!

December 3, 2015  ~  #boknation  #fetaforever

Lastly, please do not feel sorry for our family. Many tell me how sad they are for the girls and us. We want you to know that we are happy, and we love our lives! Our three children have changed us by being exactly who they are. Is it hard sometimes? Absolutely. Do I have down days/weeks? Damn right I do. But these sad times never last for long. I have way too much to be happy about. Every single day with our girls is a gift. I just pray that we're given lots more TIME with both of them. I want to make more memories & take lots of pictures & capture all this love and joy to last me for the rest of my life because my kids & my family are what strengthens ME.

Thank you for taking the time to learn more about our family. I cannot tell you what your support means to Scott & me. Hugs from all The Hartley Hooligans to you! 


*OCTOBER 2016 UPDATE:  We began further genetic testing during the summer of 2016 with hopes that with the increase in technology and the advances in science, we might be able to get answers regarding the girls' condition.  We sent bloodwork from all five of us to Christopher A. Walsh Laboratory in Boston to take part in a research study on developmental disorders of the brain. We also visited Children's Mercy Hospital's Genetics Department in Kansas City, Missouri for a clinical evaluation and to begin the process of Whole Exome Sequencing (WES). We were recently notified by Children's Mercy that our daughters now have an official diagnosis! Both girls have a Neuro-Metabolic Disorder known as Asparagine Synthetase Deficiency (affecting the ASNS gene). Both Scott & I are carriers for this gene, and it is autosomal recessive, as expected.  This means that we have a 25% chance of this occurring with each pregnancy.  It is not more likely to affect our girls, and the fact that our son is neurotypical and the girls are not is simply chance. We are in the process of testing Cal's blood to see if he is a carrier, as he has a 2/3 chance of that occurring. Likely this will not be an issue for him in his life, as this genetic defect is extremely rare. I posted more about our findings in THIS POST, and I hope to update more about this diagnosis very soon. We are so very grateful to Dr. Amudhavalli, Laura & the entire Genetics Staff at CMH for their time and efforts to help us finally get answers, after 15+ years of having none. We also want to thank Jennifer and everyone at Walsh Labs for their continued research on our girls' condition. We could not have asked for a better team to work with across the board.  

xo

44 comments:

Sea rookie said...

You have a beautiful family! Thank you for sharing your story. :)

Jodie said...

Amazing, thank you for sharing your journey with us..I cannot express how much you've inspired me. I have 3 kids, one 8 year old girl w aspergers, one 7 year old hellion uh I mean boy w adhd and a 3 yr old who well jeez who knows what his deal is ;) but there are times I feel sorry for myself ..poverty, s bad relationship w father etc etc and I tend to sit on my pity pot. But i need to remember that as hard as it seems there's other people enduring a much tougher journey , your one amazing mama and I pray your future is filled w happy memories and lotsa love!!

Sarah Doodle said...

You just might be the coolest mom i have ever met

Jess Jonas said...

Thank you for sharing your fantastic family with us. You mentioned that you are toying with the idea of WES (Whole Exome Sequencing), but "aren't sure what the purpose would be." While I don't think that anyone should have genetic testing who doesn't want it, I can think of three reasons why you might consider WES. One is to end the diagnostic odyssey and have certainty as to why your lovely daughters present the way they do. The other is to connect with other families who have the same genetic changes as your daughters (you may or may not have an interest in doing this) to compare notes, trade stories/advice/etc. A third is that having WES would be a contribution to science, because the more we know about which genes perform what functions, the closer we are to finding treatments and/or therapies for kids with a variety of conditions. Your daughters may not see the fruits of this labor during their lifetimes, but one never knows. Just some food for thought. Thank you again for being so open!

MelodyRN said...

Thank you so much for not only sharing your story here on your blog or also through the media interviews. Much love to your family!

Unknown said...

Wowzers!!!! You guys are really quite something!!! What an awesome story and what an awesome family!!! I will pray for your children's health to continue :) I have 3 beautiful children myself, none of them suffer from any disabilities. The pure joy that these beautiful children give us can't be put into words! My heart is so full after reading your families story, truly amazing!!!

Of course here in Canada we are asked if we would like an amniocentesis, I say why risk my pregnancy, I would continue on with my pregnancy even if the results were less than stellar. That's my baby, a life that deserves to be here, no matter what. You are SO right, we are given what completes us!!!! You have such a beautiful family and you are such a gracious mother!!!!!! Congratualtions!! You're living your lives :)

Frank and Ginny Cole said...

Gwen: thanks for your wonderful interview on The World today. You have and will give a lot of hope to many. God bless you and yours.

nurse Mel said...

I heard your interview today also and was inspired to 'meet' the girls and the rest of the family via the blog. You have ALREADY helped some of the new parents out there by doing that interview and by being willing to share your journey(s). Keep up the beautiful work Mama. What a special place in this world you've been given. The girls are beautiful.

amazingsusan said...

You and your whole fam damily rocks <3

amazingsusan said...

You are all amazing! Thanks for sharing your story <3

E and J said...

You have a beautiful family.

Angela Staas said...

You seem to be an amazing mom, and an inspiration to many! Thanks for sharing your beautiful family and story!

jackflash6475 said...

Your family is amazing. One question. Your son does not have the condition. Wouldn't the test be beneficial when he starts a family?

biggerten said...

Caught your interview on NPR, had to check things out. Thanks a bunch!

Tamera Everett said...

Your writing style and sense of humor KILL me! I am laughing my butt off---
You are some kinda woman!!
Love and hugs!
Tamera
Dallas

Nicky said...

you're an amazing woman and mother. I have a child with special needs as well, she has kernicterus a form of brain damage. we struggle with many different things with our beautiful lil girl and can relate to how difficult it can get. But these kid's are wonderful my daughter is one of the strongest little girls I know, she amazes me every single day. I wish nothing but the best for you and your family. you're girls are adorable.

sarahjane said...

You are a rockstar and those little angel girls are so lucky to have you as a Mama. As a mama to a gorgeous little boy and expecting my second, I am in awe of you and so inspired!! Thank you for sharing your story. It is a gift to all of us.

Driftwood said...

OMG, I am in tears, Gwen. I fell in love with you, your beautiful girls and your whole family, including the dogs. You guys are such an inspiration! I have three kids myself but I have never entertained the notion of “normal” regarding kids in general. My youngest was diagnosed with severe depression and dropped out of school when he was 14. He is fine now but I tell you: it breaks your heart when your child mostly wants to die even though there is nothing really “wrong" in him or in his life.

Since his recovery I have been able to celebrate life in all its glory and diversity.

Lots of love all the way from Finland!

Kati

Sweet Pea said...

Hello, your family's story appeared in our city's daily newspaper, the Sydney Morning Herald (Australia). I will be following your blog.
What a beautifully written story.

Lee Trevena said...

inspiring family - warms the heart xo

shay said...

That picture of your son and Claire gave me chills. The love you all have for each other is beyond words. God BLESS!

Crazy Diamond Star said...

Not an easy life, but you five have been showing God's love and how you pass on God's loves to others.
May God strengthen you and your family. I also post some of your story on my own blog and share to others.
http://crazydiamondstar.blogspot.com/2016/02/zika-virus-hartley-family.html

They will be directed to your blog to support you!

GOD BLESS!

Unknown said...

I caught you on the BBC the other day. What a beautiful story?! And, a beautiful family. Peace and joy radiated the airwaves. It was such a refreshing end to the day. Thank you so much for sharing the gift you have in your girls, your husband, and son. And, for blessing us with your story!

Kathryn said...

I began searching for more information about the Zika virus and eventually found myself on your blog. It is so nice to get an idea how a family faced with special needs like this copes, defies the odds, and lives the joy of each day! So, thank you for keeping a blog to share with the world. My very favorite picture is the one of your son as he was younger, cradling his little tiny sister in sleep... absolutely beautiful! You all personify a level of love that few truly know.

Clarissa Vania said...

such an inspiration :) really amazed on how you and Scott managed to turn 'the hard times' to pure joy that people can see and be inspired with. God surely has beautiful plans for your family. Prayed for your family and thanks for being a good reminder to me. I surely often took things for granted. hope you and your lovely family are doing fine xx <3

Gail Kraft said...

I have a 38 yr old son with microcephaly and also dwarfism plus many other diagnoses. It has been a long journey. His father bailed out when Stephen (pronounced Stefan) was 2 so it's been a rough road. I've been in a bad way emotionally especially since my mother died 6 yrs ago. Hearing your story has given me reminder I'm not alone. Thank you

Erica M said...

What a beautiful story and beautiful family. You are truly blessed and this story made us feel more humbled by our own experience as parents too.

Danielle Blase said...

Hi Gwen, You're story is really touching, thank you for sharing. You are truly inspirational.
Your courage to listen to your instincts and not to the doctors. Your positive outlook and gratitude is truly beautiful. You are a wonderful person and keep doing what you are doing : ) big hug and love from a NZ mama.

judyserenity said...

Thanks so much for telling us about your family, and educating people about microcephaly. Your love for your three children comes through loud and clear!

Huey said...

You're a brave and loving family. Your story is so moving and filled with faith and love. I'm so proud of your achievements in raising the three children. Your positive outlook on life is an inspiration. What else can I complain about? Thanks for sharing your heart!

Patricia Carroll said...

Isn't there a research grant available somewhere that will pay for the girls to have WES?

sammitalk said...

If I may offer an outsider's opinion on the idea of doing Whole Exome Sequencing, perhaps something will show up which will help future children born with this condition, or will offer insight on it that will help give other families of newborns with this condition a much better prognosis. Even if the only thing doctors conclude is that it isn't as deadly or devastating as they thought, would it be worth it to you to spare other parents the heartache, anguish, and pure agony you felt when you were told your daughters were unlikely to live to see their first birthdays? I don't mean this as a, "This is what I think you should do" statement or anything. I'm simply trying to give you more to contemplate when discussing the risks versus the benefits.

You have a beautiful family. Words cannot express the utter joy I feel in learning that your daughters are both not only still with you, but thriving as well. From a 17-year-old girl living in New England, I wish you all the very best, and hope to continue to receive updates on how the girls continue to defy the odds.

Akasha said...

You are one of the most amazing people I have ever encountered. My local paper ran a story about you and your family and I am in awe of your strength and kindness. Thank you for this blog. Whenever I start feeling overwhelmed and depressed at life, I will think of you. Thank you for being here.

Joann Smith said...

I just wanted to say something...you said that this entry in your blog was going to be long. Actually, it wasn't long enough. It could have been 10 times longer and I would have enjoyed reading the whole thing! You are speaking from the heart and that in and of itself is so refreshing and heart warming! I know they say that God only gives you what you can handle and he knew you were the only parents that could love and take care of three such beautiful children! Congrats!!!

jaci fricks said...

Thank you for sharing your story. You have a beautiful family... can't wait to catch up on the blog. I hope you find some backup chickens. I'll keep an eye out. #searchforbok

Anna's Mom said...

Good Morning! I thank you for sharing your lives in such a beautiful and encouraging way! I had emailed you a few months ago to seek help regarding feeding options and scoliosis/kyphosis decisions. My 15 yr old daughter is a lot like Claire and Lola. If you have time can you email me at kandpjordan@gmail.com? Thank you ❤️.

Rebecca said...

Thanks for doing what you do and for writing this blog. The planet needs to see that having a child with microcephaly isn't the end of the world and people need to STOP convincing women in Puerto Rico to abort their zika babies. Disabilities happen. We need to sack up and roll with it. And you are a great example of said sacking up.

Rebecca Herrell said...

Thank you for sharing your story. My IG account recommended that I follow you & as soon as I saw your photo of the girls, I was immediately taken back to memories of caring for a brother & sister in PPCD with the exact same diagnoses. I loved those two & you're right, every small gain is a victory and celebration. Sweet memories have come back to me & 10 years later I still wonder how they're doing. Keep up the good, tough, best work, mama! You're awesome & a light in sharing the gift of your kids!

Lia Von Protz said...

You had me at "shitting myself."

Also, I feel you on the Feta. We refer to our 4.5 month old (1.5 mos adjusted) as "Uncle Fester," in honor of the festering neck cheeses produced in his chin and neck rolls.

You have giant, sparkly, lady balls and you rule. Keep it up.

Dick Banks said...

Happy 15th Birthday to Claire Elise!

Shannon said...

I recently stumbled on your Instagram page. Reading this has me crying tears of joy for you. All any mother wants is for their kids to be happy and as healthy as possible. I can't imagine being told my daughters would only live to 1 year old. What a testament to God and to you as a mother for raising three amazing children! I'm sure you have hard days, but your positive attitude and joy make parenting so much better, especially for the kids. Keep enjoying your sweet blessings!!

Rhonda P said...

You have a BEAUTIFUL family!!!! Love seeing your posts and photos on Facebook & IG too. God bless you always!
Rhonda & family

Rhonda P said...

HAPPY BIRTHDAY TO BEAUTIFUL CLAIRE DOLL!!!!

gabby said...

WOW! what an amazing story, thank you for sharing it. I think you are all are so amazing. The girls are beautiful.

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