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.
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Hi everyone!
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)