The 7th annual Costello Family Conference is now over. I am sad to be leaving all of my new friends. I got to meet a 4-year-old named Thomas Stephen. That is so funny since my Daddy is Stephen Thomas.
After being told by doctor after doctor here in Austin that I am “failure to thrive” and at the bottom of the weight growth charts, I finally got some good news.
We got a Costello weight chart today in one of the sessions. This chart is made up of data from several of the other Costello children. In that chart, I am over the top of the 95th percentile for weight! It is so nice to know I am at the top of something. But with only a few other kids for comparison, I guess it does not mean too much. I weigh almost 16 pounds and I am not even six months old yet!
My mommy and daddy took me swimming today at the indoor pool at the Westin O’Hare in Chicago! Well, my mommy came along but she wouldn’t get in the water so daddy took me in. The water was SO cold I was shivering and my lips started to turn blue. It was so much fun though. I saw some of my Costello friends in the pool. Rechal came over and we talked for a while.
I finally had to get out because it was just too cold.
It was so funny to see many other Costello kids in the pool with their G-Buttons in the stomach just like me. I sometimes think I’m a little different from other babies because I have a huge hole in my stomach that I eat through, but not here in Chicago! It’s amazing how all of us have such bad feeding issues. I seem to be doing a little better than most since I love to suck on the paci.
Today, Tuesday July 26th, I arrived at the WESTIN O’Hare for the conference on Costello Syndrome. I love MY hotel. Mommy and daddy hope to learn more about the genetic condition I have so they can better understand me – like why I cry all the time and why I don’t like to sleep much.
So far I have met a lot of nice kids! Rachel is my new best friend! She is 18 years old and takes very good care of me. She pushes me down the hallway, wipes my drool, and puts my pacifier back in when it falls out. Sometimes, I push the paci out just for fun to make her have to put it back in! I’m going to miss her when we have to leave. But the funny thing is she lives in mommy’s home town of DeWitt, Iowa! That is such a coincidence – especially considering there are only 2 or 3 Costello kids in the whole state of Iowa that we know of.
They said they have over 40 other families here that have someone impacted by Costello Syndrome. With only 200 to 300 people in the world with Costello, we have a good turnout at the conference.
It is kind of scary to see the wide range of ways people are impacted by Costello. Costello affects many different systems in the body. Some of the issues with Costello kids include: heart problems, cancer, chiari malformation, mental delays (some can read at an elementary level while others can’t read at all), eating difficulties, sleeping issues, anxiety, behavioral issues, walking difficulty (some are in wheelchairs and most need Achilles Tendon lengthening surgery), breathing issues, severe scoliosis, short stature (some are not even 4′), and vision problems just to name a few. Some Costello kids have had over 20 surgeries! And some lost their battle with Costello since the last conference so that is hard to hear about. It makes me sad to think of losing any of the nice friends I have made at the conference.
I can not wait to see what happens in the next few days.
After we landed in Chicago, my daddy drove us to IKEA in Schaumburg, Illinois. I got to meet my Uncle Darl and first cousins Dustin and Jodi for the first time. I also got to see my Aunt Diane again and meet my second cousins Joey and Elena. We had a good time touring IKEA and eating Swedish meatballs.
Then we continued on to Iowa where Mommy and Daddy are originally from. We drove to Davenport for Mommy and Daddy to eat Whitey’s ice cream. Then we drove to Iowa City and stayed at the Marriott in Coralville which is my first hotel stay ever! It wasn’t too bad! On Sunday we got to meet Mommy and Daddy’s friends at the hotel! We saw Brenda, Dave, Erin, Rob, Austin, Tyler, Carrie, Lexi, and Lauren. It was fun!! They even ordered Happy Joe’s Pizza. It smelled yummy. I was wearing a black and gold Iowa Hawkeye jersey that day!
The next day we drove to Rudy’s Tacos in Davenport. Mommy and Daddy took my picture by a menu. Silly! Then we drove to Bettendorf and checked in at the Isle of Capri. We met my grandma and grandpa Marilyn and Bob, and great aunt Evelyn there. Later on we went to Happy Joe’s Pizza and met both of my grandmas, my grandpa, great aunt Evelyn, aunt Diane, and Mommy’s friend Wendy! Daddy and Mommy must love the pizza at that place considering we have already had it twice in two days! After that, we stopped by Whitey’s ice cream again! They must love that place too! I can’t wait until I can eat that too!
The next day we ate at Happy Joe’s again with my two grandmas and grandpa and my grandma’s neighbor Lavonne. Then we took Grandma Ellie (or Memere Ellie) to Chicago with us. We checked in at the WESTIN O’Hare. It is nice to see us staying at MY hotel. 🙂
Today (Saturday, July 23) I took my first flight! Well, the first flight outside of my mommy’s belly. I went on 51 flights in there.
I went from Austin to Chicago on American Airlines. I’m going to Chicago to see family (in Iowa) and attend the 7th annual Costello Family Conference. They have a conference every 2 years pulling together researchers, doctors, and other Costello families to share ideas from all over the world.
I am lucky my mommy and daddy fly so much, because I was able to get my own seat in first class for free! I also got a certificate for my first flight. I was really good, sleeping about half the flight and watching Blue’s Clues on daddy’s laptop the rest of the way.
Traveling in First Class is not too bad! I sure hope I get my own seat on the way back too.
My mommy says I have been slacking on my blog. So, she wrote a post for me. It isn’t nearly as good as my posts. Anyways, here is what she says I have been up to all these months.
This is mommy (AKA Angel). Westin has not been updating his blog so I figured I better update you with his journey. Here goes…
When I was pregnant, I had polyhydramnios (extra amniotic fluid) and was placed on bedrest at 30 weeks due to pre-term labor. After I was diagnosed with polyhydramnios, they did many extra ultrasounds but did not find anything wrong with Westin. Westin was born on 2/9/11 at 38 weeks gestation. He was delivered via c-section due to his large estimated size. He was 9 lbs 3oz. He had tachypnea (rapid breathing) and was in the NICU (neonatal intensive care unit) for 5 days. He was extremely irritable from the day he was born and has always had an interesting “barking” sound that he makes before he starts wailing. People always think he has croup since this barking noise sounds similar to a croupy cough. While in the hospital, he was fed formula from a bottle and also breastfed. When we took him home, he was breastfed but it was not going too well (he would tire easily) so then he was fed expressed breast milk from a bottle. He would drink anywhere from 1/3 of an ounce to 2 ounces at a time. The pediatrician was very concerned with his weight at his 4 week checkup so we were sent to the ENT (ear, nose, and throat) doctor since it was believed that his labored breathing was preventing him from swallowing well. The ENT diagnosed him with laryngomalacia which is where the soft, immature cartilage of the upper larynx collapses inward during inhalation, causing airway obstruction. We also started physical therapy around this time due to Westin’s torticollis (wouldn’t turn his head to the left).
We went to Dell Children’s Hospital in Austin, TX, in March for 6 days for supraglottoplasty surgery for his laryngomalacia with the hopes of him breathing and eating better after that. The supraglottoplasty surgery did not fix his breathing or eating problems though. They also did a large workup during that time since the ENT doctor suspected he had some sort of neurological disorder (X-rays, ultrasounds, brain MRI, bloodwork, barium swallow study, EKG, echocardiogram, etc.). He was also tested for any chromosomal abnormalities. He passed his newborn screening tests. He also had an Upper GI done which showed he had acid reflux. The geneticists tested Westin for lysosomal storage diseases like Krabbe and Gaucher due to his extreme irritability. Many people thought for sure that he had Krabbe but it came back negative. They also gave him a feeding tube through his nose (NG tube) to help us try to get him to gain weight. His vomiting seemed to increase after we got the NG tube, possibly due to irritation in his throat from the tube.
Westin was placed back in the hospital in April for 6 days for his Failure To Thrive. He went from the 97th percentile in weight when he was born down to the 5th percentile. 🙁 They did more testing (x-rays, lumbar puncture due to one of his unexplained fevers, nuclear medicine gastric emptying study, another barium swallow study, chromosomal microarray test, etc.). Westin was now receiving both physical therapy (torticollis and stretching his legs, arms, ankles, hips) and occupational therapy (eating issues and fisted hand issues). The occupational therapist made hand splints for him to wear at night to get his hands to open.
He didn’t gain much weight with the NG tube so we went back to the hospital for 6 days later in April to get the G-tube surgery (feeding tube directly into his stomach) and for a muscle biopsy. The GI doctor wanted to do a nissen/fundoplication but the surgeon would not do it due to Westin’s stomach being slow to empty and due to his spasming pylorus. After the G-tube surgery, they were giving Westin morphine for the pain. One nurse accidentally gave him a 10X dose of morphine! She realized it soon afterwards and they gave him Narcan to counteract the morphine. Otherwise, he might have stopped breathing. (Ugh….) Westin’s muscle biopsy showed he has excess muscle spindles, patch lymphocytic infiltration of perimysium, slightly increased number of internal nuclei, and mild increased number of degenerative mitochondria. It also showed that he might possibly have Mitrochondrial Complex IV but results were inconclusive due to the frozen sample. The interesting thing about Westin is that he is hypertonic (high muscle tone) instead of hypotonic (floppy). The muscle biopsy report mentioned that excess muscle spindles has been documented in Noonan’s Syndrome. Our geneticist said Westin does not have the facial features of a Noonan’s child and said there is a sister syndrome called Costello which could be a possibility but then he went on to talk about some future testing to include skin fibroblasts and other things. We went home and researched about Costello and thought it sounded a lot like Westin. So, we called our geneticist and said we wanted the HRAS genetic testing to be done, even if our insurance didn’t cover it. He agreed and it turns out our insurance did pay for it. Westin’s blood sample was taken in late May for Costello Syndrome and sent to Baylor Medical Genetics Laboratories. Their test takes 28 business days to complete (sequence analysis is performed in both forward and reverse directions).
Westin gained weight well after the G-tube surgery. In June, we brought Westin back to Dell Children’s Hospital to get a second brain and spine MRI done and an overnight EEG study to check for seizures. When we saw him in the recovery room after the MRI, he was not breathing well. He ended up staying there for several hours and they finally released him to an intermediate care room on oxygen. He could not get his O2 stats up high enough so then he got moved to the PICU (pediatric intensive care unit). He ended up being in the hospital for 5 days and was on oxygen for those first four days with breathing treatments. The EEG showed he was not having seizures. He had an abdominal ultrasound when we were there also which was normal.
Westin’s HRAS test results were faxed to our geneticist on July 1. We had been calling all week to see if they were in yet but on Friday (July 1) we had to put our beloved first “furry kid” (our dog Kendall) to sleep since she was having non-stop seizures since the night before and had an insulinoma (tumor in her pancreas) which spread to her liver and lymph nodes. So, we were not able to check on the HRAS test results that day. Monday was a holiday in the US (Independence Day), so we called the geneticist on Tuesday to get the results. He was on vacation so they could not give them to us! We were so anxious to see if Westin had Costello Syndrome. In our gut we believed he had Costello, but what was the reality of winning the “Costello Lottery” with a 1 in 24 million chance? So, we asked Baylor to fax the report to our pediatrician and we finally found out he did in fact have Costello and had the more common, G12S variant. Yes, we truly won the “Costello Lottery!”
Since the diagnosis, we signed up for the 2011 Costello Conference in Chicago and have spoken to a few Costello families and been in contact with a couple of the researchers. Westin has been doing physical therapy 2X per week and occupational therapy 1X per week. He just had a repeat echo and EKG and they were normal.
List of issues during my pregnancy and Westin’s symptoms:Polyhydramnios Pre-term labor at 30 weeks, placed on bedrest following that C-section at 38 weeks after going into labor Large for Gestational Age, 9 lbs 3 oz at 38 weeks, born 02/09/11 Transient Tachypnea of the Newborn Increased irritability (likely due to GI issues) Torticollis Failure to Thrive, dysphagia, feeding difficulties Laryngomalacia (stridor and strange barking noise) – had supraglottoplasty surgery with no results NG Tube G-Tube (04/26/11) Acid Reflux (GERD) Vomiting Stomach slow to empty Pylorus spasms Penetration but no aspiration during two modified barium swallow studies Short stature (<3rd percentile) Ears posteriorly rotated Large tongue Unexplained fevers Abnormal muscle biopsy (Muscle spindle excess and possible Mitochondrial Complex IV) Fisted hands/ulnar deviation, middle finger bent in Hypertonic?? Under debate. He is not hypotonic Excessive sweating Cold feet with excessive sweating Tensing his back and right leg, once with strange breathing Slightly small optic nerve, farsighted Delayed milestones Hydroceles Cyst by his scrotum Sensitive to sunlight Respiratory insufficiency (needed 12L comfort flow) after anesthesia/intubation for MRI Prominent lateral and third ventricles in the brain Prominent liver HRAS+, G12S Variation (Costello Syndrome) – Blood taken on 5/26 with results back on 7/1, Tested at Baylor
Angel, mommy to Westin (HRAS+, G12S, 5 months old)