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