Special Needs

What’s a “Tubie?”

Mathias, SLOS

People ask me questions about Mathias’ feeding issues daily. Mathias’ feeding issues are complex, so I’ll try to answer the most frequently asked questions in this blog post.

What’s a “Tubie?”

A Tubie is anyone who has a feeding tube, no matter what kind!

How does Mathias’ tube work?

This is actually a question that people DON’T often ask me because they are often afraid of asking. I’ll be the first to admit it: I had NO experience with a feeding tube prior to Mathias, and my first exposure to a “permanent” feeding tube was only 1 year before Mathias was born. So many of us are blessed to not ever worry about these kinds of things, so when we’re exposed to them we don’t even know what to think. There are a few different kinds of feeding tubes with various abbreviations, but the purpose of a feeding tube is universal: to deliver nutrition to someone who can’t eat or drink enough on their own. Mathias has a gastrointestinal tube or g-tube, which is a very small device that’s inserted into the stomach through the abdomen and sits above-left of the belly button. It delivers food directly to the stomach. Mathias’ g-tube is a mini-one button and sits pretty flat against his stomach. The g-tube itself is actually a little balloon that inflates with water and drips food into his stomach.  When Mathias needs to be fed he gets connected to a feeding pump (it’s a blue Infinity One pump) and the pump regulates the length + dose of his feed. When Mathias first got the tube we had to run the pump very slowly – I think it was around 2.5 ounces per hour. Livia can drink that much in less than 5 minutes, but Mathias’ reflux was so bad that he projectile vomited if we ran it faster than that. When I started writing this post eight months ago, his feed ran at 215 ML an hour (7 oz) and 165 ML at a time (5.5 oz), and he was connected to the feeding tube for about 45 minutes at a time, 3 times a day plus a longer overnight feed. His overnight feed was about 3 and a half hours long. Nowadays, since we switched from Elecare Jr. (formula) to Nourish (a real food blend) for his “food,” his pump runs at 300 ML an hour and 200 ML at a time – only 30 minutes! Plus, his overnight feed is about an hour and a half long. It’s nice when things change!

Why does Mathias have a feeding tube?

Mathias has had feeding problems from day one, which all stem from his genetic disorder. Most babies born with Smith Lemli Opitz Syndrome do not have a hunger drive and it does not develop until anywhere from 12 months of age to 3 years old. Mathias’ developed around 18 months – nowhere close to the beginning of his life.

People love to say that your baby won’t starve themselves, but in my case this was not true in the slightest. We literally started weigh-ins only days after he was born (when they discharged us from the hospital my nurse told me that feeding issues were “normal” and that he’d “get the hang of it” and until then to pump and bottle feed. He was born on a Tuesday and on that Sunday my mom paid a lactation consultant to come look at Mathias and try to figure out what the issue was with nursing. We syringe fed him for days hoping to not cause any bottle confusion. I tried using a nipple shield to help him latch and slow my let-down, which the consultant said could have been part of the issue. She told us to go to a chiropractor to help fix his wonky head and his neck, which was stuck on one side, saying that often nursing problems go away after those issues were solved. The chiropractor did help his neck, but did nothing to help change my child’s eating patterns, who despite what everyone told me, did not seem to be hungry.

Mathias was born around the fiftieth percentile, at 7 lbs and 13 oz, three days past his due date. By one month of age he had dropped to the fifteenth percentile, and slowly worked his way down the growth curve to the 7th, then 5th, then 2nd percentile. It wasn’t until he hit the 0th percentile at six months old, and had not gained weight in one month, that his gastroenterologist decided to hospitalize him to try to figure out the problem.

When I look back on it, I’m amazed that it took so long to figure it out, despite my pushing. The first gastroenterologist we saw wouldn’t prescribe any reflux medication because he didn’t “think it did much” and told me that the reason Mathias had weight gain issues was because he had a milk protein intolerance. And the latter was true – he did have a milk and soy intolerance, until he hit 24 months – but that wasn’t the reason my child needed to be force fed every two hours for six months, and would only eat eighteen ounces a day, on a good day. I logged every half ounce and ounce he ate. Some days he would literally only drink 12 ounces a day. Upon my insistance, my pediatrician gave me another referral and we switched to a gastroenterologist at Massachusetts General Hospital when Mathias was four months old. Thank God we did because he’s the one who made the connection that Mathias’ head circumference had been at the 1st percentile since birth, and that he should see a neurologist to determine if there was a genetic component to why he wasn’t eating, after we had tried reflux medication, switching from breast milk to formula, different feeding schedules and different bottles.

Unfortunately, when Mathias was hospitalized for the second time at seven months, after our initial plans to get him to gain weight fell through, he was old enough to be traumatized by being force fed. He remembered pain and recognized where it came from. So while the experiment of placing a nasal gastric tube proved that he could gain weight if fed the appropriate amount, it also was the last time that my son drank milk from a bottle.

He has not drank any fluids besides water or very watered down juice since the week of February 28th, 2017.

Long story short: Mathias needed a feeding tube because he didn’t recognize hunger for the first year and a half of his life, and now, recognizing that he is hungry, is too sensory sensitive to consume much food. So many textures bother him and too many tastes offend him, and we can’t force him to eat anything. Contrary to what I believed growing up watching my parents raise six other children, you can’t force feed your children.

Up until July 2018, Mathias refluxed at least three times per week during his overnight feed. And that’s just the times he would throw up at night – that doesn’t include all of the times that his reflux rose up in his throat, burned and made him not want to touch any food.

Up until August 2018, Mathias couldn’t even swallow the solids he wanted to eat, because his tongue wouldn’t move in a circular motion to push food back to his throat.

Presently – Mathias can chew very crunchy, dissolvable solids. He will swallow purees, but only a few flavors. We have made progress with some soft solids (cake textures), but had regression.

How long will he need the feeding tube?

This is the question I am asked on a regular basis, and the question I have no answer to. He may need it for the rest of his life – most people with Smith Lemli Opitz syndrome do. Mathias is on the mild end of the spectrum but that doesn’t really give us a clear answer to anything. The doctors at the National Institute of Health told me they think that he will get off of the feeding tube eventually, but it’s really on Mathias’ terms. I would be happy if he is no longer tube fed by age 5 – we’ll see.

Right now, Mathias probably eats between 150-250 calories by mouth per day, but they’re “empty” calories, meaning they don’t provide nutrition. Applesauce and goldfish may be any toddler’s ideal diet, but until he’s eating something substantial on a regular basis, Mathias’ feeding team won’t let me subtract any calories. Since he’s on a real food blend, he gets less fat in his diet, meaning he really needs all of the calories he puts into his body.

I don’t know how long Mathias will need his tube. Maybe he’ll always have it and only need it sometimes. Maybe it’ll be gone in a few years. I can’t know, and all I can do is keep helping Mathias by offering him food every day and working with his therapists to overcome the obstacles in his way.

Why an Autism Diagnosis is a Good Thing

Mathias, SLOS

There have been a few days in my life that have changed my world.

The day I chose my university.

The day I met Lucas.

The day I got married.

The day I miscarried my first pregnancy.

The day I had Mathias.

The day that I first heard the words “Smith Lemli Opitz Syndrome” and wrote them down on a junk piece of paper, not thinking anything of it because the neurologists told me they had never met any children with it before and the chances that Mathias had it were 1 in 60,000.

The day that Mathias got a g-tube.

The day that these words were uttered: “your son is on the Autism spectrum.”

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I’ve been meaning to write this post for quite some time, but I have a hard time expressing the feelings I had in this moment, which was already 9 months ago.

Our stay at the National Institute of Health was…traumatic. It was hard, for all three of us (Livia was a baby and was blissfully unaware of anything going on), for different reasons. This was the first time Lucas really experienced firsthand what Mathias has to go through. Mathias was subjected to multiple tests, which included a skin graft and a blood draw that took several days because they aren’t used to baby veins, and our stay concluded with his g-tube exploding the ONE time we didn’t have a spare button because our medical supply company had a mix-up and couldn’t get the spare to us until the day after we left for Maryland. It was awful.

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For me, it was difficult because of the ASD (Autism Spectrum Disorder) diagnosis. Honestly. It was just ANOTHER thing that Mathias had to try to overcome, another thing making it more difficult for me to teach him, another thing that made me feel like my son could/would never have a “normal” life. Nothing changed about Mathias – but in the moment he received the diagnosis, my last hopes crumbled. It was another thing that proved just how much his genetic disorder controlled him, another thing that reminded me that even if he is on the “mild” end of the SLOS spectrum, that he does not function the way that I do. I wanted, desperately, for Mathias to be able to be mainstreamed in school. To not need a lot of therapy, to not need too much special ed. I knew that it was unlikely and that the odds were stacked against us, but I still had hope that maybe, maybe he could just be “normal” enough to get by.

As a mother, there are things that make you suffer in a depth that you can’t truly comprehend until you are in that position. I know, from my own experiences in school, that kids are mean. Kids are hurtful. And kids that are atypical – kids that are medically complex, have genetic disorders or are on the autism spectrum – have it harder than anyone else. So not only was I worried about Mathias from an education perspective, but from a social one as well. The thought of someone being mean to my baby, and him not understanding why, broke my heart. I didn’t want – I still don’t want – him to ever feel that he is less than anyone else. And I know that part of his suffering in life is going to be just this. He is not like everyone else. All I can do is try to teach him that that’s okay, and that he is perfect and loved by his family and God just the way he is.

However, the silver lining to an ASD diagnosis is therapy. As terrible as the government and health care systems can be, they understand the word “autism” as “this child needs your full support.” Do you know what Smith Lemli Opitz Syndrome means to them? Nothing. It’s gibberish. No one knows anything about it and that means things take forever to happen. But say the word “autism” and things start moving.

The biggest help for Mathias, they told me at NIH, would be ABA therapy. ABA (Applied Behavior Analysis) therapy is a “learning theory which utilizes a team approach to provide services adapted to meet the specific needs of a child and their family.” What this means is that these therapists meet your child, evaluate their strengths and weaknesses, and make goals to help improve different areas of “function,” i.e communication, social engagement + play skills, self-care skills (such as eating, potty training, dressing themselves) and their interfering behaviors (how they respond inappropriately in a situation, such as whining, face-grabbing or mouthing).

ABA therapists come to your home and work with your child in their home setting, and teach you ways to work on things with your child when the therapists aren’t around. It’s an intensive program – each session consists of a three hour block, and the minimum is usually 12 hours per week. We are starting with 9 hours because our ABA company does not have enough staff until the New Year, and will work our way up to 20 hours. This is in addition to the other therapies Mathias receives on a weekly basis: speech therapy (three hours), feeding therapy (one hour), occupational therapy (two hours) and art therapy (one hour). Currently we are already at sixteen hours of therapy – we will probably get up to twenty five by February. But this is what Mathias needs to be pushed to learn and adapt and communicate, and we wouldn’t receive this without an ASD diagnosis.

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Smith Lemli Opitz Syndrome: An Introduction

Mathias, SLOS

This post is where I’m going to start our story, because our lives changed the moment that we first heard the words “Smith Lemli Opitz Syndrome.”

My oldest son Mathias was born on July 5th, 2016. 3 days past his due date, and 1 day past the day I wanted him to be born. I had a normal pregnancy and normal ultrasounds, and he was born at a healthy, average birth weight of 7 lbs 13 oz. But it became apparent from day one that something wasn’t quite right (I will write a separate post about our journey towards a diagnosis) and we discovered 8 months later that he has Smith Lemli Opitz Syndrome (SLOS).

Smith Lemli Opitz Syndrome is a mutation of the DHCR7 gene. This gene provides information to an enzyme which is the final step in cholesterol production.

Because of this mutation, Mathias doesn’t produce cholesterol properly. Cholesterol is vital to brain + body development. People affected by SLOS have a wide range of physical and developmental issues.

If you google SLOS you will find examples of the extreme ends of the syndrome which are, quite frankly, described horribly and offensively. You’ll read things like “malformations” “deformities” and “retardations” and your general response will be OMFG. Because it is NOT pretty. And you know what you’re going to be freaked out and sad, if you, like me, googled SLOS to find more information if you found out that you’re a carrier of the mutation or if your child was recently diagnosed.  I’m here to tell you that the things that you read on google are not always, and not usually, the case. As with all syndromes, there is a HUGE spectrum between cases. Mathias is on the mild end of the spectrum. Let me explain in layman’s terms as much as I can.

Some syndromes are caused by an extra or missing copy of a gene (this is the case with Downs Syndrome). If this is a case, your cases are extremely similar. If you bake a cake, and you forget an ingredient, or add an extra one, and every time you make it you do the same thing. So if you make a cake, and add cocoa powder, it will always be a chocolate cake. Downs Syndrome kids are all chocolate cake (because let’s be honest, who doesn’t love chocolate cake? If you don’t, I don’t trust you). But syndromes with a mutation are different, because there are different mutations – the cake recipe changes based on the ingredient substitution. Let’s say that I’m making a cake but I’m not using artificial sweeteners, so I substitute sugar with maple syrup. It still sweetens the cake, but in a different way. Baking is chemistry, so even though sugar and syrup are both sweet, the finished product isn’t quite the same. But what happens if I make that cake and instead of grabbing sugar I accidentally substitute salt? That cake isn’t going to taste right. In the case of mutations, one ingredient is substituted for another and that substitution may or may not be the right fit. Even if it’s an “acceptable” substitution, it won’t make the original recipe. This is the case with SLOS, but because there are so many different mutations of the gene, almost as many as there are people with SLOS, the recipe is always a little different.

For a child to be born with SLOS (or most mutations), one mutated gene must be passed from each parent. So both me and Lucas are carriers – we each have one functioning DHCR7 gene, and one mutated one. If you remember the chapter of genetics in your high school Bio class, you’ll recall that every one of us carries 2 copies of each gene, one from each parent. We both passed our mutated copies to Mathias and ta-da! SLOS baby. In Livia’s case, one of us passed a mutated copy and one passed a healthy copy. Livia is a carrier, like Lucas and myself. But since our mutations are both different, Mathias’ combination is pretty specific to him compared to other people with SLOS.

All people with SLOS share some commonalities: distinctive facial features, small head circumference (microcephaly), some intellectual disabilities + learning and behavioral problems. The neurologists at MGH decided to test Mathias based on his microcephaly, his so-called “failure to thrive” (FTT) and his conjoined second and third toes (a seemingly minor trait shared by 97% of people with SLOS!).

Mathias’ lack of hunger drive, inability to latch at birth, + consequent feeding problems stem from SLOS. The geneticists I’ve spoke to told me that most children with SLOS develop a hunger drive between the ages of 1-3.

He is otherwise in great physical condition, with none of the other physical problems or abnormalities that some others with SLOS have.

As far as his development goes, that remains to be seen. He continues to impress his doctors but he has consistently “failed” the developmental tests done by Early Intervention (with the exception of his social skills, which remain high). He doesn’t eat, he doesn’t speak, he struggles with basic communication and has yet to pick up any sign language. He has impressed me since the birth of his sister in showing empathy and understanding but, then again, Mathias always does well in “social” situations. He could be mainstreamed in school, drive a car, work, live on his own; or he could need special ed, be mostly nonverbal, tube fed and dependent on us for the rest of his life. It’s an unknown for us, but I hope that my sharing can shed some light for others in similar situations.

There are not many of us: 1 in 20,000 children in the US is born with SLOS, and even less are mild because some mild cases go undiagnosed. As one mother told me on Instagram – we’ve won the lottery. Maybe I should gamble more.
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