Spartan
Our son Lucas was born on February 3, 2013 in Bangkok, Thailand and while that day was filled with love, joyfulness and the excitement that every family enjoys, it was the start of our incredible journey with our Little Spartan!
It was only a day or two after leaving hospital (where we had been discharged with no concerns) when I started noticing Lucas was not breathing easily. He also was struggling to drink milk, and would choke often. We took him back to the doctor multiple times, and then to multiple hospitals and doctors only to be constantly told that nothing was wrong, and we were just paranoid parents.
We went to over 10 doctors in 7 different hospitals trying to get someone to understand what we felt was wrong. But, It’s like Murphy’s law sometimes…you’re up all night with him struggling to breathe, in the morning you go to the hospital and once you’re there – all of a sudden everything seems alright! — Doctor sends you home and the cycle starts all over again! I started photographing and videoing and recording his breathing to take to our doctor visits. I read up and learnt language like “tracheal tugs” and “stridor” to help with more defined terminology to clarify his situation. And finally, at 3 months old, a doctor said the magic words “I believe you!”
We admitted Lucas to hospital where he went thru multiple tests, x-rays, MRIs, scopes, swallow test etc all to determine what could be the problem. At this point no one was even considering Rubinstein-Taybi Syndrome or genetic testing, as Lucas turned out to have a number of urgent medical problems that were more important at that time, and it was important that we got them under control first. For the next 6 months Lucas spent almost all his time in hospital with short breaks back home. The doctors were still baffled as to what could cause so many medical conditions. They used to tell us “He looks so perfect on the outside, but his poor little body has so many problems inside”. Since he had been admitted, the first things the doctors had done was immediately stop all oral feeding – Lucas had a delayed swallow and bilateral vocal cord paralysis that caused him to aspirate his food and water into his lungs very often. He also had severe acid reflux (GERD) which was causing him to have pneumonia every few weeks and causing a lot of stress on his heart as well.
Even though all of these things were happening, and Lucas was struggling so much with even a simple thing like breathing, it was amazing to watch him smile bravely and always laugh even though it all. We were in awe with his fighting spirit and ability to smile always – that’s when friends and family named him Little Spartan Lucas.
In September 2013 at 6 months old, weighing only 5kgs, the doctors termed Lucas with what they call “medication failure” as he had not responded to any of the reflux medication on even the highest dosages possible. So at 7 months, doctors performed Fundoplication surgery to close his stomach and ensure no more acid reflux for him, as well as put in a gastrostomy tube (g-tube) to feed him directly to his stomach in hopes of helping him to gain weight and start to do better health-wise. It was a tough time, with multiple further complications after surgery causing an additional 2.5 months in hospital, but just 2 days before new years, after 8 months in hospital, Lucas came home!
It was when Lucas was 1 years old that our genetics Doctor came to us one day with an idea of what could be causing all his difficulties. They said “We think your son has Rubinstein-Taybi Syndrome, there’s not much known about, so Google it!” With that as our introduction to RTS, we did! The first site we came to was the www.rtsuk.org website, where we very thankful to be able to download all the information and spent about 2 days learning everything we could about RTS. It can be such a relief to actually know what you’re up against even though at the same time your heart breaks for all that he struggles with. Our small journey just became a journey of a lifetime.
Our doctors told us that in Thailand, most hospitals will never see a case of RTS or if they do, it’s only once in about every 10 years! We go to the top hospital in Thailand, and we are only the 3rd case they’ve ever had as well. We are so thankful for Facebook and the internet for helping to connect us to the RTS worldwide community. It’s been a great place for research and support and a wonderful asset for when we speak to our doctors.
There are a lot of medical explanations for Rubinstein-Taybi Syndrome, but as a mom, here’s my explanation and how I believe Rubinstein-Taybi Syndrome has affected Lucas.
Rubinstein-Taybi Syndrome (RTS) – Is a genetic syndrome that is found in 1 in 100,000 – 300,000 children. It’s not genetically passed on through the parents (Unless the parents also have RTS) and it affects children both medically and developmentally.
Medically – it usually goes like a straight line down from the top of the head. For Lucas this starts at the wine mark birthmark on his head and Chiari Malformation Type 1, to his throat (delayed swallow, BVCP) to his heart (1 VSD, 2 ASD and a PDA), digestive system (GERD, difficulty eating, difficulty digesting, failure to thrive) un-descended testicles and hypotonia (weak muscles) which make it difficult for him to balance or walk on his own.
RTS affects different children in different ways, and severity of medical conditions varies as well. For Lucas I tend to place him on the medium to severe side of RTS with his long list of diagnoses, but as he’s grown more, I’m happy to say he’s gotten stronger with many of the medical sides slowly resolving with minimal medication or surgery.
Mentally/Developmentally – RTS kids have varying degrees of developmental delays. With Lucas his development is about 2.5 – 3 years behind his actual age. While he is very smart and can understand a lot, he struggles with simple tasks and body coordination. RTS kids also have difficulty speaking with over 60% of RTS kids being non-verbal or using communication devices and sign language. Lucas is almost 5 years old now, and he currently does not speak any words yet. He uses his hands and body to communicate with us instead.
Additional Diagnoses – Not all, but many RTS children can also have other diagnoses on top of RTS which affect them. For Lucas he has been diagnosed with Sensory Processing Disorder, this is where he cannot react to situations the same way everyone else can due to a sensory overload or enhancement to everyday objects, textures and situations. This has unfortunately been a daily struggle for him, but with therapy he is progressing and we are hopeful that he will continue to be able to adjust to the world around him.
Characteristics – Beautiful smiley faces, happy, joyful moods, slanted or almond shaped eyes, large thumb & big toe (sometimes can be bent as well) and a beaked nose. (Just check out his pictures, fits him to a tee!)
Growing older, there has been so much good progress with Lucas! We have been so lucky to see his health improving. Lucas’s heart, swallow, vocal cords and many other medical issues have been getting better to the point of no medication, and while new challenges do still come up, and we are learning new things every day, he continues to be the bravest, most amazing kid we know!
Lucas is now 5 years old and growing up so fast! He’s able to eat most meals (soft foods only) by himself, and hopefully will be completely off the feeding tube in a year or
two. He’s almost walking on his own, and swims very well. He love loves animals – especially giraffes and will spend a lot of time looking at picture books of wild animals.
He is currently homeschooled (or more like home therapy) and can do lots of simple activities like matching pictures, stacking cups, stringing beads and lots and lots of puzzles!
Milestones for our family are a little different than most, but all the same, they are celebrated! Just for fun, here’s some of the greatest things Little Spartan can do:
- Take off all his clothes in the 2 seconds you turned your head
- Expertly find the hidden YouTube icon anywhere on your phone/iPad
- Turn off ALL the lights in the room..ALL the time.
- Close every door, cabinet, drawer and cupboard that’s open – even if you needed it open
- Climb on your back anywhere and hang on like a monkey to avoid walking
- Give puppy dog eyes and slobber you with kisses to get his way (Yes, I’m a pushover)
- If he hears adults having a conversation and laughing, he’ll start fake laughing very loudly too – just in case you thought he didn’t get the joke!
Life with Lucas is an adventure! And we’ve loved being a part of it every day! Throughout every challenge/obstacle, we see how brave, patient and courageous he is, and it has given us the strength to do our very best for him – always!
Living in a country with little information or support has changed our lives in terms of working towards awareness. We have worked hard to build up as much information as we can to be able to support Lucas in Thailand the best way we can, and work hard every year to raise awareness throughout social media so that rare syndromes like Rubinstein-Taybi will be more known in both the general public and medical community.
If you’d like to follow our journey, we update regularly at facebook.com/littlespartanlucas