Special Needs Spotlight || Lily

Hi, my name is Katie and I live in Pittsburgh with my husband Josh and our 11 month old daughter Lily! Lily has a rare genetic disorder called Rubinstein-Taybi Syndrome. She was diagnosed shortly after birth after being admitted to the hospital for severe jaundice, lethargy, and refusing to eat. Today, she is thriving! She is a happy little girl who loves mangos, books, playing peekaboo, and ragtime music. (Weird, I know. LOL) We spend our days at the library, the pool and the park. Lily is the center of our world and I never could have imagined how happy one tiny person could make me.

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Miggy:  Hi Katie!  Thanks for participating in today’s spotlight.  So let’s jump in… can you take me back to the day your daughter Lily was diagnosed with Rubinstein-Taybi Syndrome?   Was it apparent immediately after birth, before or a while later?  Do you remember how you felt?  Can you compare those first thoughts and feelings with how you feel now?

Katie:  We did not know Lily would have RTS before she was born. My pregnancy was textbook normal. The second I saw Lily, I thought she looked different. I kept calling her my little elf baby. I was insistent to my mom and husband that something wasn’t right, but they both said she’s a newborn, they all look different. However, she was admitted to the hospital at 4 days old with severe jaundice and a suspicion of a genetic disorder, so we couldn’t ignore those thoughts for long. We found out she had RTS when she was 8 days old. I had actually just been released from a separate hospital where I was being treated for postpartum preeclampsia. I was so happy to just be back with Lily after being away for 3 days and had spent that time convincing myself that nothing was wrong with her. When a geneticist walked into the room an hour later, I still wasn’t ready to hear what he had to say. He took so long getting around to actually naming a diagnosis that I actually screamed at him, “Just get to the point, what the heck is wrong with her!?!?” He focused on really weird things, like tiny differences in her nose structure. He did not give us a very clear view of her disorder. He handed us a couple of grainy printouts from an outdated website and wished us luck. When he left the room, I was under the impression that she would be a little short and might have a mild learning disorder, comparable to dyslexia or something. Then, the attending physician came in and talked with us to make sure we were ok. I remember saying something like, “Oh, I’m fine. I can deal with this. The geneticist just said she might need a little extra help in school.” The doctor gave me a weird look and said, “Um, actually, she is likely to have an IQ of 30-50. That’s not even compatible with independent living.”  I. LOST. IT.

Fast forward a year. I am head over heels, madly, deeply in love with my little girl. I can’t even imagine feeling the way I did that terrible day in the hospital. It was all just so overwhelming and she was so sick at the time. Now, I can’t wait to wake up in the morning to see her again. I am in complete control of managing the medical aspects of  her diagnosis. EEGs and feeding tubes are not scary alien things now, but just part of her life story. She has so much personality and so clearly loves us so much. The doctors made it all sound so bleak, but first of all, the IQ they were all discussing us is not a given. RTS kids have IQs all over the scale, higher and lower. And secondly, who the heck cares about IQ? It doesn’t measure the way she blows raspberries when she’s happy, or how much she loves to turn the pages when we read, or how she loves getting splashed in the pool. Her life is not measured by any numbers; IQ, weight, developmental milestones, or reading levels, just as parenting is not about a “perfect” child, but rather building a happy life with the family you love.

Miggy: Please educate us about Rubinstein-Taybi Syndrome–what are some of the hallmarks and traits of people who have this syndrome?  Are there treatments or medication available for Rubinstein-Taybi Syndrome?

 

Katie: Rubinstein-Taybi Syndrome is a rare genetic disorder caused by deletions on the 16thchromosome. It causes a wide variety of difficulties in affected individuals. RTS children are small in stature, with girls only reaching an adult height of about 4’ 10”. It causes facial abnormalities, such as slanted eyes, beaked noses and a small mouth. RTS carries a risk of blindness and deafness and 90% of children have problems with speech, with a large percentage being non-verbal. Children have global developmental delays, most don’t walk until 3-5 years old and potty training frequently doesn’t occur until early elementary school. Many kids have some issues with feeding, either an inability to gain weight or sensory disorders with the textures of food and many require a feeding tube. Some require heart surgery as congenital heart defects are common. RTS children are also at a higher risk of tumors (some benign) and certain cancers, especially brain cancer or leukemia. RTS actually used to be named for the most prominent feature, that of their broad thumbs and big toes. Their hands are broad with shorter fingers and some kids require surgery to straighten thumbs or toes. What’s interesting is how each case seems to vary so much from child to child. Some may be severely affected with all the aforementioned issues, while others may only have a few challenges and the degree to which each difficultly affects each child differs greatly. What all RTS kids have in common is a huge smile, a joyfulness that just makes you feel warm all over and a happy, easy personality. Lily is always laughing or smiling! We are also very blessed that Lily currently seems to have a milder form of RTS and doesn’t face as many issues as some of our other RTS friends do.

As far as treatment goes, it’s focused on treating specific medical issues, such as a feeding tube for failure to thrive or surgery to correct a tethered spinal cord. There is no overall treatment or cure for RTS.  For Lily individually, the biggest component in helping her is our therapy. She receives physical and occupational therapy a couple of times a week and we will add speech therapy in a few months as well.

Miggy: Explain how Lily’s needs affect your day-to-day life?  

      

Katie: When she was first diagnosed, her disorder was all consuming. She was on a feeding tube, she had almost daily weight checks, and a host of doctor appointments each week. Frighteningly, in its most severe form, RTS is only survivable until early childhood. With such a new baby, it took many tests and many weeks to figure out just how severe Lily’s needs were going to be. We had barium swallows, EKGs, EEGs, fluoroscopies, blood work, brain and kidney ultrasounds, x-rays, glaucoma testing, hearing exams, and many, many specialist appointments to figure out just what we were dealing with. I was also in the process of getting her evaluated by Early Intervention and setting up therapy appointments. That took up ridiculous amounts of time and I remember crying more than once because I wanted to be at a story time that morning, not holding Lily down as a tech glued electrodes to her scalp for an EEG.

         

However, as Lily grew and we got test results, we kept getting more and more confirmation that Lily was doing really well. Slowly, specialists started allowing for more time between appointments and some even “dismissed” us, saying we only had to be seen on an as needed basis, not on a regular schedule. So today, we don’t have the drastic requirements as we did in the early days, but RTS is definitely part of our everyday life.

The biggest daily reminder of RTS is her size. Lily is 11 months old, but about the size of a 3 month old. This presents more challenges than you’d realize. She is frequently developmentally ready to do something, but physically, she is just much too small. We spend a lot of the day adjusting her world to her. She sits on stacks of towels to reach the tray in her high chair and I pad the back of her stroller with blankets so she doesn’t slide out. I spend tons of time scouring the internet to find toys she would be interested in playing with, but are small enough to fit in her tiny hands. Her speech is also the biggest area to be affected, so every day we are learning sign language and encouraging sounds and communication. She also still receives Early Intervention services, so we have twice weekly therapy appointments as well as practicing all the exercises they give us to help her sit up, crawl, and attempt walking.

Another way RTS affects us is a way that I’m sure is familiar to any special needs mom. I feel like her disorder makes me hyper sensitive towards her every movement or sound in a way a mom of a typical child might not be. For her, any cough could be the beginning of aspiration related pneumonia requiring a lengthy hospital stay or those cute snuffling noises at night might be a worsening case of sleep apnea that might lead to surgery. It’s hard to not focus too much on what might go wrong and just be present in the moment.                        

                                                     

Miggy: What are the biggest worries you face for Lily?    

Katie: I think what worries me the most for her future is what’s going to happen when she can understand when I have to explain her to strangers. I give a variety of quick answers to questions about her size or her developmental delays. After a particularly long day on in public I thought, “My God! Listen to the words she’s hearing about herself!” Rare, disorder, condition, issues, delays, difficulties, syndrome, etc.  I am always conscious that she’s listening and I want to be the first to teach her just how wonderful she is. I want her to know that she’s the best and greatest baby ever, even if that’s not how others always (mistakenly) see her. I try to say things like “Yep, she’s just small”, Or “No, she was just born that way” and then change the conversation so that every interaction we have is not one that highlights her differences.  I just want the world to see her how I see her; perfect in every way.

Miggy: Now for a lighter question, I’m a big believer in seeing the humor in life and learning to laugh, so have you ever had any funny conversations/moments you never imagined due to your special needs situations?   

   

Katie: Lily has a difficult time with pooping because of RTS related low muscle tone. She can get extremely constipated and when she was first born, for a while she’d only poop once a week or once every 10 ten days, but when she would go, it was EPIC. We were at an audiologist appointment when she was about 3 months old and were sitting in one of the testing booths. It’s completely soundproof with a lot of instruments inside measuring Lily’s responses, ambient noise, etc. I bet you can see where this is going. So there we are, in an almost airtight, soundproof tiny booth with machines measuring every little noise that Lily makes, when my tiny, adorable, little girl suddenly has the loudest, smelliest poop she has ever had in her life. I swear it lasted for at least a minute. The machines went wild, the room filled with a terrible smell, and the audiologist fell off her chair laughing so hard. Every mom claims their kid poops a lot, but we actually have scientific evidence of just how loud and smelly she can be!!!!

Miggy: How can people best approach or respond to Lily?  Is there something you wish other people knew so as to avoid awkward or hurtful situations?  

    

Katie: For me, it is so frustrating to always have to talk to strangers about Lily in public. I know a lot of people say they would rather people just ask questions instead of staring at them or their children, but I find myself wishing that they just wouldn’t do either!  I know that most people are just trying to connect or to share their experiences, but sometimes I would really love to just run into Target without having to hash out her whole medical experience. I think it’s because Lily’s disorder doesn’t have the recognized outward appearance of say, Down Syndrome, that people feel it’s OK to comment on her tiny size or other characteristics that they don’t realize are part of a genetic condition. They don’t realize how hard that can be for a parent to always have their child’s differences pointed out. And I know that sometimes these interactions only last a minute, but sometimes on a run to pick up milk, 20 different people have something to say to us about how Lily looks. 20 extra minutes onto every errand can add up! I love when people just treat Lily like a normal baby and comment on her adorable outfits, or her ever present giant hair bows!

Miggy:  What is the biggest lesson you’ve learned since becoming a special needs mom?

Katie: Since having Lily, I’ve really come to a new understanding of “normal.” I started hating to take Lily anywhere in public (do you see a theme here with me and being in public?)  because of all the questions and comments. “Oh she’s so tiny!” “Is she talking yet?” “Oh just wait until she starts walking!” For these people, their children crawled on time, walked on time and grew at an average rate. Some people don’t have any experience with children who do not follow the same timeline. I used to be so much more judgmental myself, before having Lily. I’d think to myself, “Wow, that little boy is way too big for a stroller!” or “Why is she feeding her a bottle and not nursing?” Now, after our own struggles, hospital stay, and diagnosis, my whole world is open to this previously (for me) unnoticed world of kids that are just doing their own thing!

    

No matter how a child eats, communicates, moves, or breathes, it is what’s normal to them. Just because Lily has a collection of differences that make up an identifiable syndrome, that doesn’t mean there’s anything WRONG with her. The very first doctor who discussed Lily’s differences with us kept using the word WRONG. There isn’t anything WRONG with how she was born, this is all normal to her and how she was meant to be. Different doesn’t make you wrong.

         

I’ve really embraced my new role as a special needs parent. I’ve loved meeting (in real life or online) other parents and their kids.  I’m amazed at how quickly kids can adapt to whatever life hands them and I’m constantly amazed how Lily always rises to meet whatever challenge comes her way. “Special needs” seemed like such a scary and alien phrase a year ago. Now, I can’t imagine my life being any different.  I wouldn’t trade my ragtime loving, loud pooping, happy baby for anything in the world.

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Katie–this was awesome.  Thank you!  First, I’m so, so, SO grateful you shared those brutally honest first thoughts and fears.  Like you, some of my initial thoughts centered around the word “burden.”  It really does feel like your life as you know it is coming to an end.  But I think the key word above is fear.  It is scary at first, and it is normal to be scared… but the love will come.  And that love really does conquer all.  It’s amazing.  I also LOVE your poop story.  Scientific evidence–ha!  Lastly, I get what you mean about sometimes wishing you could just not answer everyones questions.  For the most part I have always said it’s best to just ask, however there is something to be said for time and place. It’s one thing if children ask–I never want a parent to shush their child if they have a question because I feel like it sends the message to their child that something is wrong with my daughter and encourages exclusion.  But adults on their own are a different story… maybe if we’ve struck up a conversation at the park, or I see you regularly around the neighborhood–but otherwise it can be a tough call.  I know in the past people have felt more confused over these answers of what’s best, but I’d say treating everyone else–including children with special needs–with dignity and treating them as you would anyone else is the best bet.  It’s a hard distinction to make!  I’d love to hear anyones thoughts on this question–has it made it easier or harder for you to interact with special needs kiddos?  For the record it was meant to be easier!  🙂  Thanks again Katie.  That was awesome and I adore Lily’s megawatt smile.  

As always if you or someone you know would like to participate in the special needs spotlight please email me or have them email me directly at thislittlemiggy at gmail dot com.

Have a great weekend!