35 months ago I climbed on a rollercoaster that has been my life ever since. When I was still pregnant with my daughter, Kati, I had a plan. I knew exactly how I wanted her birth to go, exactly how she would be fed and exactly how she would grow up! The funny thing about plans is you have no control over the obstacles that can interfere.
After an intense and plan defying birth (which is a whole other crazy story), Kati entered this world with an amazing appetite but an inability to gain weight. As a first-time, postpartum mom every horrible thought about myself ran directly through my brain. When I had to return to work this crazy mind game got even worse. Self doubt is a powerful thing!
We went through reflux, silent reflux, colic and all the medications associated with them. We tried to supplement my breastmilk with oils and fats and formulas and cereals, but Kati wanted nothing to do with any of the 100s of dollars worth of bottles I tried. We saw a GI specialist and tried a Supplemental Nursing System (SNS) to no avail.
At 6 months my little girl was diagnosed with failure to thrive, which in a mommy's brain means failure to provide what my child needs! I wasn't getting much help from her pediatrician so I sought a second opinion. That day, March 28, 2013, will forever live in my brain. I was given 2 options... #1. Quit my job indefinitely and stay home and nurse my little girl every time she would take it! If that was every 15 minutes then so be it! #2. Was to admit her to the hospital and have a feeding tube placed! The options sucked!! I waited for #3, but that was it!!
So I did what I knew... I took my baby home, called my boss, got comfy on the couch and we nursed and nursed and nursed! Thank God for a supportive family, blue gatorade, lactation cookies and overnight oatmeal! I am pretty sure that is the only way we survived the next 6 months. We reported back to her pediatrician every week for weight checks in addition to the countless specialists and therapists we began seeing.
*6 months breastfeeding*
In my mind I temporarily waved goodbye to that plan I made. Once we got through this weight gain obstacle I would come back to it. Kati was so far behind on development and growth that we just had to focus on weight. At 6 months she was barely on a 2 month level developmentally. Something wasn't adding up!
At 10 months Kati finally was able to sit independently for short periods of time, she began to roll over and she began to take some foods by mouth regularly. At 11 months she could stand holding on to objects but could not pull herself up. Around a year she started scooting on her bottom all over the house. Mobility was great but burning calories was an extra challenge. Not long after her first birthday, Kati started pulling herself up and babbling.
*1 year breastfeeding*
At 15 months we finally were able to see a geneticist. After asking us millions of questions, she was stumped. She could think of a few possibilities but nothing was clearly our answer. She offered to run a $25K test called a whole exome sequencing. This test would sequence Kati's entire genetic code to make sure everything was correct and no disease causing mutations were present. We discussed our options and within minutes decided we had to have an answer even if the answer was nothing is wrong. This test took 6 months to run... so we gave them blood samples and waited!
At 15.5 months Kati started walking with a push toy. What an awesome Christmas present!! At 17 months she began to walk independently. She was so shaky and her balance was terrible. She had very little depth perception, but she was WALKING!! Thousands of giant goose eggs in the middle of her forehead later, she began to get the hang of it...
*18 months breastfeeding*
Kati started to develop a very small vocabulary. Her words were dog, dada, mama, pa (my dad), Nee (my mom) and nay nay (to nurse). Who needed any other words, right? After graduating from physical therapy, feeding therapy and early speech therapy, we really thought she was starting to thrive.
I visited my friend "the plan" every now and then just to see how long it might be before we could hangout again. I had no clue Plan A was about to move away forever and Plan B was moving in for good. Life is just funny like that!
At 21 months we returned for our genetics follow-up. I saw Kati's results were in a couple weeks prior to her appointment but they weren't put in her chart yet so I couldn't take a sneak peek. Since we didn't receive a phone call telling us to come in early, I just assumed they didn't find anything and Kati just had to do things in her own time and way! For that reason alone, I sent Kris to work like any other day and my parents went with Kati and I for this appointment.
Simply put, Life changed that day... June 5, 2014! Kati was diagnosed with Costello Syndrome. Never heard of it? Yeah... I know!! Her genetic counselors gave us a 5 page printout of all the known information from a parent's page online. There were some websites to visit and a Facebook page to checkout. They scheduled an EKG, Echocardiogram, abdominal and pelvic ultrasounds, a new diagnosis appointment with our neurologist and a follow-up in a year and sent us on our way. I still laugh at the sense of calm I had walking out to the car that day. Couldn't be that big of a deal, right? They didn't mention anything super scary. Oh my, the shock I was in for!!
I have an BS in Pre-Med biological science and a MA in Environmental Science so I am no stranger to the world of scientific journal articles. Would you believe I struggled to find articles to read!? I quickly found out Costello Syndrome is rare not rare like diamonds or four leaf clovers or even Sweet Southern Belles. No, I am talking rare like lighting striking the same place twice, NC State winning the NCAA tournament or winning the lottery! To be more precise, to have Costello Syndrome means you are one of the 300-500 people in the entire WORLD! Awesome right!?!
By Kati's second birthday I felt like I knew almost as much about CS as the handful of researchers studying it. All Kati's baseline health screens had come back normal and we rejoiced! Most people with CS are diagnosed within the first few months of life. Severe feeding problems, serious heart problems, common facial features and limb contractures, elevated cancer risk, hypotonia, major breathing problems, and the list of early indicators could go on and on. We were so blessed to have made through those first 2 years with no earth shattering health problems. Kati's 2nd birthday was such a thankful day!
*2 years breastfeeding*
The tests that had to be run on our tiny peanut continued. Sleep study which led to MRIs and surgery for tonsil and adenoid removal. An EEG that showed nothing abnormal! A dental specialist that led to corrective surgery. An MRI that led to Chiari Malformation and Ventriculomegaly diagnosis, both of which are fairly common CS traits but have super scary consequences if not monitored closely. The list of tests, hospital visits and therapies exceeded that of most normal adult lifetimes!
*2.5 years breastfeeding*
Kati was falling behind on some developmental milestones with her speech and motor skills so I decided to push for more therapy. Kati began receiving speech, physical and occupational therapies and her development started closing the gap rapidly. Common age for CS kids to walk, talk and eat by mouth is around 5. Kati's progress is remarkable to say the least.
In July Kati turned 34 months old. (Most people say 2 and a half, but when you are breastfeeding every month, day, hour and minute are important!) We were fortunate enough through many fundraisers and generous donations to be able to travel from our home in NC to Seattle, WA for the Costello Syndrome Family Forum. Every 2 years families of Costello people and researchers gather to learn from each other. When I say learn from each other... I mean families learning from each other and the researchers and researchers learning from families and other researchers. To say it was the experience of a lifetime would be an understatement!
The mutation that caused Kati's condition is fairly common among CS people but her presentation of this mutation is extremely uncommon. Kati's presentation is much less severe. The researchers we met with were baffled. To say we are blessed is almost laughable! It's like saying you won the lottery and you don't have to pay the taxes! We definitely have serious concerns for Kati's future, but there are so many hurdles that we, fortunately, did not have to jump!!
Being able to breastfeed my daughter should not have been possible. Physically she did not have the capability to drink from a bottle. Thank God for His design because Dr. Brown and Avent couldn't cut it! I like to think my milk has helped prevent some of the common health problems other CS people face. That's a complete stretch, because Kati is definitely not the only CS person to have ever received breastmilk. But it does make me feel better about all that self doubt I pushed through. The only 2 things on my Plan A that I have been fortunate enough to get to maintain are cloth diapers and breastmilk! I am thankful for God's mercy, because my mommy heart may not have made it for 21 months if the whole plan had gone out the window.
People ask when our breastfeeding journey will end. My answer is always the same, "when Kati stops asking for Nay Nay Milk then I will stop providing it." So for now she is a 35 month old, tiny, breastfeeding little girl that just so happens to have an incredibly rare genetic mutation that should have prevented this journey from ever beginning!
