Intro and Question

zonastar23

Hi, everyone. I've been lurking for a little while but after today, I really needed to reach out.

My little guy is about a week shy of five months. He is the sweetest, cuddliest, happiest little boy ever.

He was born with four (minor) birth defects that affect his mouth/jaw (posterior tongue tie, lip tie, micrognathia, and high arched palate), and had a laser surgery at one month to correct the PTT. He also has been very slow to gain weight (actually stopped gaining for two weeks early on), and his doctors were also concerned about his starting to roll over at two months. He would tense one leg and go from back to tummy, then freak out because he was stuck.

Last week two more concerns were raised at his four-month exam - the presence of a newborn rooting reflex that, according to his ped. should be gone by this point, and the way he tenses up and twists his legs inward when you try to help him sit up. There are also concerns that he may have celiac disease like his father, which would possibly account for the slow gaining,

We have an appointment with genetics two weeks from tomorrow. There are some serious concerns based on these issues and the problems we ran into during the pregnancy (very low PAPP-A, and some other issues. We were also intermediate risk for T21 - higher than most women my age, but not high risk), and also the jaundice he had early on (his levels spiked around 19, didnt go below 11 until around a month old)

Due to his slow growth, we have been followed weekly at WIC for weight checks for the last month. He is gaining steadily but has not caught up to the typical growth for babies his age. Today while we were at the office for a weight check, he was nursing when he started shaking violently, arching his back, and his eyes were rolling back. He clamped down and would not release his latch. He turned a little red.

I called the pediatrician and we took him in to see her. While we were there, around his lips turned blue during the exam. Noah is acting fine since the incident at WIC. The doctor and NP want me to watch him and record if he has another episode. I also have a referral to have him seen at Kennedy Krieger with a neurologist, and get an EEG and I am waiting on a call back from their intake department.

I have been so unbelievably worried about my baby boy with everything going on and today totally threw me into panic mode. I just want to know what is going on with him. If any more episodes happen we will be heading straight for the hospital. I have no idea what to expect with this kid...and I am trying to avoid google because that's already gotten me even more worried.

So, as for the question... what should I expect and is there anything I should bring to these appointments with genetics and neurology? I want to be prepared as possible.

algalphys

Wow...that all sounds scary and overwhelming! I hope you get answers soon and your little guy is ok!

ToastieSimons

Both of my sons have micrognathia.  It's mild and they had a fine ability to latch onto a bottle, but they could not nurse.  They also have hypertonia which affects their ability to get their tongue out for nursing.

Does he typically arch back and shudder while eating?  That part makes me think of reflux and sandifer's syndrome which my DS1 suffered from.  

My DS1 was a SLOW gainer.  He was born at 8lb 14oz and didn't double his birth weight until almost a year.  He had severe reflux and was a terrible eater.  I remember doing weigh ins at the GI dr and him gaining 1 oz in 2 weeks.  He was diagnosed as Failure to Thrive (FTT) and put in the hospital.  We finally found thickened formula and prevacid was his magical combo.

He too has never gained "catch up weight" like the pedi's all wanted.  At almost 4 he's only 28 lbs.  

You say your LO's jaundice peaked at 19...Was that tested via blood?  Did they put him under the lights?  That's an awful high number to let him work through on his own.  DS1 was in the NICU his skin tested at 18 and they wanted to put him under the lights.  The dr ordered a blood test and anything over 15 would be under the lights.  He was a 14.7.  

Is your LO on solids?  If he is still only on formula then celiac wouldn't really be a concern.  If he is getting cereals you could cut them out and only use fruits/vegetables and/or make your own GF oatmeal.  

ETA:  I totally forgot you were nursing!!! sorry! I would try cutting gluten/dairy out of your diet if possible and see if it helps him gain weight a bit.

genetics and neuro are a great place to start.  It sounds like your dr's are being proactive which is so awesome, because some dr's seem hesitant to listen to a parent's instincts.

Did the dr check his Oxygen saturation while his lips were blue?  If you're at the dr's and it happens again I would demand them check it.  

I hope you get some answers!!!

zonastar23

They listened to his chest but didn't check his levels. After we left the office my dad's fiance (a nurse) asked if they had checked him with a pulse oximeter and said they should have when they noticed that. We are going on day three after what the doctor believes was a seizure, and he's still acting normal and hasn't had any more episodes like that. I google everything when something new comes up, but the common denominator for all these issues that keeps coming up is cerebral palsy. I don't want to jump straight to that and don't want what I'm finding to influence the doctors treating him - I want to see what they come up with on their own. I am not gluten-free right now until we see the geneticist to see if they want to test for celiac - if you eliminate gluten too early before testing, the results come back inconclusive because there wouldn't be recent exposure. I also don't think he has reflux, but I don't really know what would distinguish reflux from regular spit up. He does spit up a lot, but his doctor has never suggested reflux.

zonastar23

ToastieSimons said:

Does he typically arch back and shudder while eating?  That part makes me think of reflux and sandifer's syndrome which my DS1 suffered from.  

He doesn't really shudder, but he flails around sometimes, like he's afraid he'll fall or something. He likes to grab onto me while he eats. He DOES arch his back, but Im not sure of the reason. When he does it he pulls off the nipple while still sucking which seriously hurts. Sometimes it helps if I switch sides, but not always. Sometimes he will go over an hour, switching sides every minute, because he arches his back, pulls off, and then screams and cries until he goes on. Wait 30 seconds to a minute, and then repeat. Usually, though it's 3-5 times switches sides before he settles in on one side.

My DS1 was a SLOW gainer.  He was born at 8lb 14oz and didn't double his birth weight until almost a year.  He had severe reflux and was a terrible eater.  I remember doing weigh ins at the GI dr and him gaining 1 oz in 2 weeks.  He was diagnosed as Failure to Thrive (FTT) and put in the hospital.  We finally found thickened formula and prevacid was his magical combo.

Noah was born at 8 lb 15 oz. We are nearly to five months and he's finally inched his way up to 13 lb 12 oz. The doctors want him up over 16 lbs by now. At the rate he's gaining, he'll end up taking another 2 months. We do weekly weight checks with WIC, on average he gains 4 oz in a week now, but that's really a recent thing, since we started him on rice cereal a couple weeks ago.

He too has never gained "catch up weight" like the pedi's all wanted.  At almost 4 he's only 28 lbs.  

You say your LO's jaundice peaked at 19...Was that tested via blood?  Did they put him under the lights?  That's an awful high number to let him work through on his own.  DS1 was in the NICU his skin tested at 18 and they wanted to put him under the lights.  The dr ordered a blood test and anything over 15 would be under the lights.  He was a 14.7.  

Yes, the bilirubin levels were via blood tests. At 3 days old, his level was up to 12 and he went under the lights in the nursery. We were released the night of day 4, and his level was a 9 something. At one week old, he had his first pediatrician appointment and they retested. The pediatrician called that evening and had us take him to the ER. His levels were 18.7 that afternoon. We got to the hospital and they were at 19.2. We were admitted for 20 hours under the lights again. When we were released again, they had come to 14. The next day they were around 12.6. The doctor was satisfied with the levels coming down that much, and basically just said keep him in a bright room and push more breastmilk to try to keep flushing the bilirubin out of his system. Two days before he was a month old, he was retested and they were hovering around 11. The checked again two weeks later and they were down to 8 something. They haven't checked him since then, but his color is much better now.

Is your LO on solids?  If he is still only on formula then celiac wouldn't really be a concern.  If he is getting cereals you could cut them out and only use fruits/vegetables and/or make your own GF oatmeal.  

ETA:  I totally forgot you were nursing!!! sorry! I would try cutting gluten/dairy out of your diet if possible and see if it helps him gain weight a bit.

Mentioned this in the first reply, too, but wanted to drop it in here as well. We are holding off on me going GF until he sees the geneticist on the 16th. If they want to run the test, (the LC said they may) if I've gone GF and he hasn't been exposed recently, the results wont be accurate.

genetics and neuro are a great place to start.  It sounds like your dr's are being proactive which is so awesome, because some dr's seem hesitant to listen to a parent's instincts.

Our ped generally listens to my concerns, but getting referrals can be difficult. I still can't get him a neuro appointment. Everywhere is booked through August. Friday I called the office, and they made some calls to find a place who could see him sooner, but the number they ended up giving me was not where it was supposed to be (supposed to be UMD epilepsy and seizure center, but gave me Johns Hopkins, and Hopkins doesn't accept our insurance). And the ped. office staff royally ticked me off Friday when I callled them back to see if they had given me the wrong number or if they had called JH instead of UMD, and they picked up, put me on hold for 10 minutes, and then hung up on me. When I called back a minute later, they had disconnected the phones for the day, even though the office was not supposed to close for another half hour. And of course it was a Friday, so I have no way to get ahold of anyone until tomorrow. I'm so frustrated with them because of that.

Did the dr check his Oxygen saturation while his lips were blue?  If you're at the dr's and it happens again I would demand them check it.  

They did not. They listened to his chest, but that's all. They said he was breathing fine, but now I'm kicking myself that I didn't ask them to check the sat level.

I hope you get some answers!!!

zonastar23

I believe I do need a referral for most things, but not everything, if that makes sense. I may call my insurance provider tomorrow when they open if the ped doesnt get back to me early on.

ToastieSimons

zonastar23 said:

ToastieSimons said:

Does he typically arch back and shudder while eating?  That part makes me think of reflux and sandifer's syndrome which my DS1 suffered from.  

He doesn't really shudder, but he flails around sometimes, like he's afraid he'll fall or something. He likes to grab onto me while he eats. He DOES arch his back, but Im not sure of the reason. When he does it he pulls off the nipple while still sucking which seriously hurts. Sometimes it helps if I switch sides, but not always. Sometimes he will go over an hour, switching sides every minute, because he arches his back, pulls off, and then screams and cries until he goes on. Wait 30 seconds to a minute, and then repeat. Usually, though it's 3-5 times switches sides before he settles in on one side.

This sounds like reflux.  Especially since you mentioned he spits up quite a bit.  The arching is classic reflux because it's painful as it comes back up.  He's associating nursing with discomfort.  You've also probably noticed weight gain since adding rice cereal in because it's helping the breastmilk stay in his stomach.  If he's doing well consuming the rice cereal you could try making it as thick as he'll take it and giving him a few teaspoons before nursing sessions.  This will help mix with the breastmilk in his tummy and weigh it down.  Also try nursing him as upright as possible to use gravity to help keep the liquids in his stomach.  You could also ask your doctors for a prescription for medication Zantac or Prevacid are the go to ones it seems.

My DS1 was a SLOW gainer.  He was born at 8lb 14oz and didn't double his birth weight until almost a year.  He had severe reflux and was a terrible eater.  I remember doing weigh ins at the GI dr and him gaining 1 oz in 2 weeks.  He was diagnosed as Failure to Thrive (FTT) and put in the hospital.  We finally found thickened formula and prevacid was his magical combo.

Noah was born at 8 lb 15 oz. We are nearly to five months and he's finally inched his way up to 13 lb 12 oz. The doctors want him up over 16 lbs by now. At the rate he's gaining, he'll end up taking another 2 months. We do weekly weight checks with WIC, on average he gains 4 oz in a week now, but that's really a recent thing, since we started him on rice cereal a couple weeks ago.

He too has never gained "catch up weight" like the pedi's all wanted.  At almost 4 he's only 28 lbs.  

You say your LO's jaundice peaked at 19...Was that tested via blood?  Did they put him under the lights?  That's an awful high number to let him work through on his own.  DS1 was in the NICU his skin tested at 18 and they wanted to put him under the lights.  The dr ordered a blood test and anything over 15 would be under the lights.  He was a 14.7.  

Yes, the bilirubin levels were via blood tests. At 3 days old, his level was up to 12 and he went under the lights in the nursery. We were released the night of day 4, and his level was a 9 something. At one week old, he had his first pediatrician appointment and they retested. The pediatrician called that evening and had us take him to the ER. His levels were 18.7 that afternoon. We got to the hospital and they were at 19.2. We were admitted for 20 hours under the lights again. When we were released again, they had come to 14. The next day they were around 12.6. The doctor was satisfied with the levels coming down that much, and basically just said keep him in a bright room and push more breastmilk to try to keep flushing the bilirubin out of his system. Two days before he was a month old, he was retested and they were hovering around 11. The checked again two weeks later and they were down to 8 something. They haven't checked him since then, but his color is much better now.

Is your LO on solids?  If he is still only on formula then celiac wouldn't really be a concern.  If he is getting cereals you could cut them out and only use fruits/vegetables and/or make your own GF oatmeal.  

ETA:  I totally forgot you were nursing!!! sorry! I would try cutting gluten/dairy out of your diet if possible and see if it helps him gain weight a bit.

Mentioned this in the first reply, too, but wanted to drop it in here as well. We are holding off on me going GF until he sees the geneticist on the 16th. If they want to run the test, (the LC said they may) if I've gone GF and he hasn't been exposed recently, the results wont be accurate.
A lot of times a nursing infant won't turn a blood celiac panel positive.  A lot of celiacs wont' even turn a blood panel positive because of the way antibodies work.  An endoscopy would be your only sure way of knowing and most doctors wouldn't order that unless there was some major signs.  

genetics and neuro are a great place to start.  It sounds like your dr's are being proactive which is so awesome, because some dr's seem hesitant to listen to a parent's instincts.

Our ped generally listens to my concerns, but getting referrals can be difficult. I still can't get him a neuro appointment. Everywhere is booked through August. Friday I called the office, and they made some calls to find a place who could see him sooner, but the number they ended up giving me was not where it was supposed to be (supposed to be UMD epilepsy and seizure center, but gave me Johns Hopkins, and Hopkins doesn't accept our insurance). And the ped. office staff royally ticked me off Friday when I callled them back to see if they had given me the wrong number or if they had called JH instead of UMD, and they picked up, put me on hold for 10 minutes, and then hung up on me. When I called back a minute later, they had disconnected the phones for the day, even though the office was not supposed to close for another half hour. And of course it was a Friday, so I have no way to get ahold of anyone until tomorrow. I'm so frustrated with them because of that.

A long wait is typical, unfortunately.  We had our appt set up in the NICU and it still took 2.5 months to get.  We switched hospital systems and it took 3.5 months to get a new appointment after they consulted with us when we were inpatient for FTT.

Did the dr check his Oxygen saturation while his lips were blue?  If you're at the dr's and it happens again I would demand them check it.  

They did not. They listened to his chest, but that's all. They said he was breathing fine, but now I'm kicking myself that I didn't ask them to check the sat level.

I hope you get some answers!!!

zonastar23

DC2London said:

Welcome!  I can only imagine how frightening the episode in the WIC office must have been.  You poor mama!  You must be in my neck of the woods if you are going to Kennedy Krieger--we are on the waitlist with them for Autism related services (I'm in DC).  

It was scary. I cried. We are about halfway between DC and Baltimore. I have a friend who goes there for her daughter who has a chromosome duplication and she says they are great.

Also, I noticed your siggy - your oldest and my oldest were born on the same day!