BWS - Other considerations

There are a number of other conditions that can occur as a result of BWS.  I'm not going to attempt to list them all, just some of the ones we have to be most concerned about.

Hypotonia/ developmental delays - Hypotonia (reduced muscle tone) is a symptom of many different genetic syndromes, including BWS.  Many kids have developmental delays as a result of the hypotonia.  We have no idea if Micaelyn had any early developmental delays since we didn't get her until she was 3 1/2.  It's quite possible she had some early delays but had mostly caught up by the time we got her.  Elianna did have some delays but not severe.  She was later to roll over than expected, later to sit up, later to walk, etc., but her delays were not so severe as to cause any great concern.  I knew to expect some delays, so we just gave her a lot of extra help.  All her older siblings have been great at encouraging her, and they provide a lot of motivation for her to keep trying new things because she is so eager to keep up with them.

Hyperactivity/ stubbornness/ aggressiveness/ other difficult behaviors - It's hard to know how much of a young child's difficult behavior is normal immaturity combined with personality versus how much of it is a result of an abnormal disorder.  Nonetheless difficult behaviors are another concern with BWS.  Truthfully neither of our girls with BWS could be considered an "easy" child.  Micaelyn is very sweet and loving but still requires a lot of discipline to keep her in control.  Likewise, Elianna can be rather difficult at times.  She and Hannah are both 2 years old but she is FAR more difficult.  At the last appointment with the geneticist she was asking about Elianna's behaviors, and while Hannah was acting like a normal 2 year old Elianna was proving just how "wild" she could be.  I am sometimes shocked by the aggressiveness both Elianna and Micaelyn show at times.  Elianna can be particularly rough with Hannah, and Micaelyn can be downright awful towards Malachi at times for no reason.  Both girls are extra active, stubborn, very strong-willed, and constantly pushing the limits with their behaviors.

Seizures - Seizures are another risk associated with BWS.  Neither Elianna nor Micaelyn have had a seizure that we know of (we can't know for sure about Micaelyn since she was older at adoption).  However, because I know they are at risk for them I am always extra careful at keeping temperatures under control when they are sick (Elianna has had many episodes of high fever).  One seizure is concerning enough, but I also think about the possibility of a febrile seizure leading to a recurring seizure problem.

Kidney problems - People with BWS are at higher risk for a number of different kidney problems.  Our girls get regular ultrasounds and kidney function tests to screen for kidney problems.  We have had extra concern about Micaelyn since the formula she drank in China was tainted with melamine, but so far she hasn't had any problems.

Cardiac abnormalities - Cardiac abnormalities are another concern with BWS.  So far we haven't had any concerns with Micaelyn.  It was recommended to us by the geneticist she be evaluated at some point by a cardiologist, but since she has no signs or symptoms we have decided to wait until she is old enough to participate in sports and have the cardiologist evaluate her at that time.  Elianna was born with a murmur, probably caused by a "hole in the heart" type defect.  She was referred to a cardiologist before we adopted her, but she never got seen.  By the time we got her the doctor here didn't feel there was a reason for concern, and her murmur is no longer audible so most likely she was born with a heart defect that corrected itself.  Once she is older and participating in sports we will have her evaluated by a cardiologist just to make sure there are no more cardiac abnormalities.  There is always the risk the girls could be fine and then develop abnormalities later such as cardiomegaly (an enlarged heart), so by holding off the cardiac testing until they are older we can catch any issues that arise while they are growing (the risk for heart problems isn't high enough for repeated testing each year).  Obviously if they were to start having any signs or symptoms of cardiac problems we would get them tested immediately.

Teeth problems - Although there are several problems with the teeth related to an enlarged tongue (e.g. underbite, teeth splaying), I've read there can also be a problem with the enamel on the teeth.  At her most recent dental exam the dentist said Micaelyn was starting to develop places on many of her teeth where the enamel was wearing away.  He referred us to another dentist who will help us determine the best course of treatment.

Frequent Illnesses - Kids with genetic disorders typically have weaker immune systems and deal with more illnesses than other kids.  It seems likely this is the case with both Elianna and Micaelyn.  They both get sick more often than the rest of their siblings and take longer to recover from illness.  It seems like Elianna especially deals with an excessive amount of sickness, and although she and Hannah are constantly together and always sharing drinks, pacifiers, spoons, etc. Hannah doesn't deal with near the sickness Elianna does.  Likewise, Micaelyn deals with far more sickness than Malachi and Caleb with whom she goes to the same school, and also despite the fact she frequently shares drinks and food with Malachi.

Here is an image I got from a BWS group that lists some of the features of BWS.  There are certainly many features not listed, and I have no idea what the source of the image is but thought it was quite interesting.

BWS - Other physical features

There are a number of other physical features that are common in kids with BWS.  These include:

Ear creases - Many kids with BWS have ear creases or pits.  In fact, this is so common it's even one of the signs used in diagnosing a patient.  A patient with BWS may also present with low set ears.  Here are some pictures of Micaelyn and Elianna's ears to demonstrate the ear creases and pits.  Note, however, it's not easy to get good pictures to show these features, especially on a 2 year old, so they are a bit difficult to see in the photos.

Creases on the backside of Elianna's ears (some of them are hidden by my thumb, but you can see some to the left of my thumb in the area of her ear lobe)

You can see a crease on Elianna's ear lobe (there is a single hair running over it).  Micaelyn has more noticeable creases in her ear lobe, but her ear piercing hides them pretty well.

Creases on the backside of Micaelyn's ears (look above her earring).

A preauricular ear pit on Micaelyn's ear (look near the center of the photograph for the reddish colored dot, there are a few stray pieces of hair near it with one just barely touching the pit)

Prominent Occiput - The back part of the head is known as the occipital region, so a prominent occiput means the back part of the head is more prominent than it should be.  This is is only mildly noticeable in Elianna but very noticeable in Micaelyn.  It is most noticeable when washing her hair as the back of her head bulges outward much more than normal so it feels different than the shape of my other kids' heads.  The good thing is her long hair obscures the shape of the back of her head so it's doubtful anyone will ever notice it.

Nevus Flammeus - This is a red birthmark, also called a stork bite, that most often occurs between the eyebrows but can also appear on the eyelids or other parts of the face.  It usually fades within the first few years of life.  They also appear regularly on kids without any genetic syndrome (our son Caleb had one on each of his eyelids) so don't worry if your kid had one!

Since we didn't get Micaelyn until she was 3 1/2 years old and these marks usually fade within the first couple of years we really weren't expecting to see one on Micaelyn, especially with her darker skin.  Nonetheless one was still visible between her eyebrows.

An enlarged copy of the same picture.  She was 5 years old in this picture, and even today (at 7 years old) in the right lighting the mark is still visible so obviously hers is one that didn't completely fade within the first few years.

Epicanthal folds - Epicanthal folds of the eyes are sometimes seen in kids with BWS.  They are also seen in kids with Down syndrome, and this combined with the enlarged/protruding tongue and mid-face hypoplasia common with both syndromes (and also the pot-bellied appearance caused by abdominal hernia and/or diastasis recti (abdominal muscle separation) seen with both BWS and Down syndrome) may be the reason why so many babies with BWS are mistaken to have Down syndrome (this is occasionally brought up on the BWS groups).  Both of our daughters with BWS would have epicanthal folds even without BWS due to their ethnicity, but admittedly when we first saw Micaelyn she did remind us of a child with Down syndrome (Today I'm sure she would never be mistaken for a kid with Down syndrome - it's usually just very young kids with BWS that are mistaken to have Down syndrome.).

Our second day with Micaelyn just after we completed her adoption, 3 years old.

Other Orthopedic Issues - In being a part of a worldwide group of families affected by BWS one comes to realize there are many more issues faced by kids with BWS than the ones listed as the common features.  It seems orthopedic issues are more common among these kids than among most kids.  Micaelyn was born with a club foot on her right side, and interestingly enough Elianna's right foot also turns inward.  At this point it's not severe enough for us to correct it, but we will continue to monitor it as she grows.

It's not her whole leg that turns inward, only her foot.

Her foot always turns inward like this, even when standing.  It's noticeable when she walks also.

BWS - Intellectual Effects

When we first reviewed Micaelyn's file and started researching all her individual diagnoses we pretty quickly realized she almost certainly had BWS (and Dr. Beckwith himself, for whom BWS is named, agreed).  In discovering she had BWS we had to be prepared for her to have additional problems related to the syndrome but not recorded in the very limited information we had on her, so we started learning about all the other possible issues we might have to deal with once we got her home.  There were a number of sources that listed "mental retardation" as a symptom (many, including wikipedia, have now removed this wording), and there were others that talked about learning disabilities.  Some sources just listed these things as a feature of BWS, while the better sources described the possibility that any significant intellectual deficiencies were the result of untreated hypoglycemia (hypoglycemia during infancy is another sign of BWS).

We knew that as an orphan in the poorest province in China there was very little chance Micaelyn had been treated for hypoglycemia, so we also knew there was a significant possibility she would have noticeable intellectual deficiencies.  Thus we weren't surprised as we started trying to teach her different things (e.g. colors, letters) that she was having difficulty.  I first started trying to formally teach her a preschool curriculum at 4 years old, but it quickly became obvious she just wasn't ready for the material.  We eventually enrolled her in a really good preschool, and it didn't take long before the teachers suggested to us she had some learning disabilities.  We ended up holding off on sending her to kindergarten, so she didn't start until this school year (she is 7 years old right now).  Thankfully my prayers for her to have a good teacher were answered, and she not only has a wonderful teacher but also has some great tutors as well.  They even enrolled her in an after school enrichment program where she gets further help in her academic material.  Overall she is doing well, and we are very pleased with her progress.  It may involve more work and take her a little longer but we feel confident that with time, extra help, and the right motivation Micaelyn will do fine in school.

At this point Elianna does not appear to have any learning disabilities, though since she just turned 2 it would be nearly impossible to rule them out.  However, because she was born in the US, was diagnosed with BWS as a newborn, and received all the appropriate medical treatment we have no concerns about intellectual deficiencies resulting from untreated hypoglycemia.

Here are a few pictures from last fall (and late summer).  My computer got fried as a result of lightening striking our house so I am just now getting back to blogging and figured I'd include some older pictures.

Last September, a rare glimpse of Elianna with her mouth closed.

 

 

Pirate day at Krispy Kreme (free dozen donuts for everyone dressed as a pirate).

BWS - Hearing Loss

People with BWS are also at risk for hearing loss.  The hearing loss can appear suddenly and be progressive.  Unfortunately Micaelyn failed her most recent hearing test at school, and she also failed further hearing testing.  We really weren't surprised by this as she seems not to hear a lot of what we say and she talks SO LOUD!!!  We will be visiting with the specialists soon to figure out what the next steps are in dealing with the loss she already has and preparing for any future loss.  So far we don't believe Elianna has any hearing loss, but that doesn't mean she never will so she will continue to be monitored and will be tested every year for hearing loss.

Since we are all looking forward to warmer weather here are some random pictures from last summer.

At the hospital for another ultrasound

  

BWS - Hemihypertrophy/Hemihyperplasia

Another common symptom seen in kids with BWS is hemihypertrophy (also called hemihyperplasia).  This is an abnormal asymmetry of the body in which one side or part of the body grows bigger than the other.  It could be an entire side of the body that is bigger than the other, or it could be one part, e.g. one arm that is larger, one leg that is larger, one side of the face that is larger.  Micaelyn has A LOT of the signs of BWS, but this is one she doesn't have (as with any medical issue a patient rarely presents with all of the signs).  Elianna does have some hemihypertrophy (one leg and arm is bigger than the other), but it seems pretty minor so far so we will just continue to monitor it.

BWS - Abdominal Wall Defects

Most kids with BWS have some sort of abdominal wall defects.  Micaelyn was born with an omphalocele which had been surgically corrected by the time she was found as an orphan.  Unfortunately she was from a very poor remote part of China, and the repair that was done was not to the standards that would be expected here in America.  At her most recent visit with the geneticist it was suggested that we see a surgeon for an evaluation of her abdomen and possibly more surgery.  We have always thought her scar seemed odd, and the geneticist felt not only did the scar look bad but also that it looked very likely her abdominal muscles were never correctly joined.  Her exact words were, "It looks they just opened her up and shoved everything back in then closed her."  It is not an emergency situation so we are going to wait until summer to see the doctor since she has already missed a lot of school this year due to frequent sickness, doctor's appointments, ultrasounds, etc.

Elianna was born with only a mild umbilical hernia.  We do not believe it to be an issue as it has pretty much corrected itself, but we are closely monitoring it as she is developing a very noticeable dimple above her belly button.

The best way to get an understanding of what an omphalocele is is to do an image search on google.  Click here to take you there.

In lieu of pictures of my girls abdomens, here are a few random pictures of them.

BWS - Midface Hypoplasia

Another symptom of BWS is mid-face hypoplasia, basically an underdevelopment of the middle part of the face.  In many kids with BWS this isn't very obvious, but it has led to some distinct facial features in Micaelyn (it's not as obvious with Elianna).  There are some procedures that can be done for the mid-face hypoplasia, but at this time we have no plans to put her through more facial surgery.  We think she is beautiful just as she is, but if she ever wants to have corrective surgery we will support her in that decision.

This is one of the few pictures we have of Micaelyn from before we got her.  The creases seen throughout the middle part of her face are caused by the mid-face hypoplasia.  Her enlarged tongue is also evident.

This picture was taken soon after we brought her home.  You can see the differences in the middle part of her face caused by the mid-face hypoplasia by looking under her eyes and over her cheeks.

It's hard to tell from a picture, but the underdevelopment throughout her mid-face is somewhat more visible in this picture taken from the side.

If you look at the bridge of her nose you can see the underdevelopment through there.  Because there isn't as much bone underneath her skin wrinkles more there when she smiles.

Of course we happen to think Micaelyn is not only adorable but also very beautiful just as she is.  However we do understand that as she gets older she may become self-conscious about the creases in her face, especially since the hypoplasia could lead to significant wrinkling at a young age.  We have already had people ask what is wrong with her face so there's always the possibility kids will bother her in school one day.  If it begins to bother her we'll look more closely into options to correct the hypoplasia, which probably wouldn't happen until after she finished growing.

Both my girls with BWS.  As you can see the mid-face hypoplasia isn't near as noticeable in Elianna.

Elianna's tongue

Like Micaelyn, Elianna also has an enlarged tongue as a result of BWS.  She has been evaluated and approved for tongue reduction surgery, but we have decided to hold off on the surgery until we are absolutely sure beyond any doubt that it is necessary.

Although Elianna's mouth is usually open she does close it occasionally.  In contrast Micaelyn almost never closed her mouth before surgery.  Overall Elianna's teeth are far more visible in contrast to the way Micaelyn's teeth were hardly visible due to the enlarged tongue covering them up.  She does seem to be developing an underbite, but at this point it's minor so we'll continue to monitor it, and she doesn't have any tooth splaying.  Her sleep isn't great, but at her age many kids still wake through the night occasionally so we don't want to assume it's her tongue causing problems in sleep (her sleep isn't horrible, just not really good).  She did have A LOT of difficulty learning to eat solid food because her enlarged tongue pushed the food out of her mouth before she could get it swallowed, but now she eats without difficulty.  Her speech is not what it should be, but she is progressing.  Unfortunately she does bite her tongue quite frequently so that is certainly a concern.  She also has a lot of trouble with upper respiratory infections, and this could be related to the fact her mouth is always open due to her enlarged tongue.

However, because the surgery is very difficult, traumatic to the child, and does have some risks we are going to just continue monitoring her until we know for sure Elianna really needs the surgery.  Most people prefer to do the surgery sooner, one reason being so the child is young enough to not remember the surgery.  Since Micaelyn didn't come home until she was 3 1/2, and then we felt it important to give her some time to adjust to the transition and form a good attachment to us, she was 4 1/2 before she had the surgery.  It was admittedly very hard for her, but I would imagine it's pretty hard at any age.  And although she was too old to forget the trauma of the surgery, the benefit to that is that she was old enough to at least somewhat understand what was being done and why.  Before the surgery we would frequently talk about how her tongue was bigger than most people's tongues and how after surgery she would have a "princess tongue."  By comparing pictures of herself from before and after the surgery she could see the difference.  So while we know the generally accepted idea is to have surgery done while the child is a baby in our experience having the surgery at an older age, while perhaps a bit more difficult, was not so horrible that we wouldn't rather wait until we are absolutely certain the benefits of surgery outweigh the risks for Elianna.

I didn't ask her to stick her tongue out for this pictures, she just does this sometimes.  Her tongue is not all the way out in the picture.

More Tongue Reduction Issues...

When you see the before and after images of Micaelyn it would be easy to assume she had the tongue reduction surgery for cosmetic reasons.  However there were actually more significant reasons for her to have the surgery.

Before the surgery Micaelyn had many signs of sleep apnea.  She snored.  She didn't sleep well and was very restless through the night.  She would wake up acting very confused and never seemed well rested.  She would sweat profusely during her sleep.  She would sleep in strange positions.  These are just some of the signs she exhibited that indicated her enlarged tongue was obstructing her airway during sleep, and this was the most critical factor in deciding to have her undergo the surgery.

Before the surgery Micaelyn was also developing a noticeable underbite, a result of her lower jaw growing forward to accommodate her enlarged tongue.  She also had tooth splaying on her upper jaw as a result of the tongue pushing on her teeth.  If she had not received the surgery at a young age she would most likely have needed jaw surgery by the time she was a teen to correct a severe underbite, and she would have needed a lot of additional orthodontic treatment.  She would also have to have the tongue reduction surgery along with the jaw surgery to prevent problems from developing again with her jaws.  We figured having tongue reduction surgery as a preschooler would be far preferable to having both tongue reduction and jaw surgery as a teenager.

Another great benefit of the surgery is that the growing pains she so frequently had almost completely disappeared.  She used to have severe growing pains.  She would wake up screaming from extreme pain most nights.  Almost every evening she was would complain of her legs hurting, sometimes her arms as well.  Often the pain was very intense - she couldn't even walk at times and would literally be crying out in pain.  We always figured perhaps the overgrowth aspect of BWS was the best explanation for such severe growing pains.  That they almost completely disappeared after surgery made us think that while the overgrowth condition may have made her more susceptible to the growing pains the bigger factor may have been oxidation deprivation due to her tongue blocking her airway.

Micaelyn frequently slept in this position before surgery.  Although it's similar to the position babies sleep in, notice her rear is significantly elevated above the rest of her body.  This is a common sleeping position for kids with obstructive sleep apnea.  Micaelyn was 4 1/2 in this picture.  After the surgery her sleep improved dramatically.

Before surgery Micaelyn would almost always wake up completely drenched in sweat.  This picture was taken after she took a nap of less than an hour.  She was wearing a lightweight sleeveless shirt and shorts, and the house was very cool that day (it was early spring) yet she woke up from the short nap totally soaked in sweat, as you can sort of see in her hair.

Before surgery her tongue noticeably filled her mouth.

This picture was taken while she was still in the hospital recovering from the surgery.   It was amazing to see her tongue fit well enough for her to close her mouth.

Sleeping at home soon after surgery.  The difference in sleep was dramatic!

I don't really have a lot of pictures to really show the underbite she was developing (most of the pictures from before the surgery don't even show any teeth since her tongue was so large) but you can get an idea of it in this profile picture, one of the very few times I caught a picture of her with her mouth closed before surgery.

The force of Micaelyn's enlarged tongue was not only pushing her lower jaw forward to create an underbite, it was also causing splaying in her upper teeth due to the force of the tongue pushing against them.