Playing Catch Up

Wow, where have the past 6 months gone?  Let’s rewind a bit.

As we awaited the birth of our son in May, we finished having consults with each of the cleft teams in the area. We decided on a team, INOVA Fairfax. Though all of the teams are wonderful choices, this was the right fit for us and our son.  We had consults with the plastic surgeon as well as the orthodontist on the team and felt really good about both of them. We were told to expect the most contact with these two doctors within the first year. The other doctors on the cleft team would have more involvement later on. We were told that our son would likely be a good candidate to wear the NAM (nasoalveolar molding). As mentioned in my last post, teams may use a presurgical treatment to prepare the baby for complete lip repair. Because we were expecting our son to be born with a bilateral cleft, we knew the NAM could really help us before the time of surgery. INOVA was the only team working with an orthodontist who specializes in the NAM.  We might be looking at an additional surgical procedure if we opted not to go with the NAM.  We were also in contact with the cleft team coordinator and she was incredibly resourceful. We met with her prior to delivery and she answered all of our questions and gave us some sample bottles to try.  Our baby would need to use special bottles in order to feed properly.  This was so reassuring because we were able to test out the bottles ahead of time to figure out how to use them correctly.

As the days passed while we were waiting for our son to arrive, there was so much to worry about.  We tried to be as informed as possible. We researched, spoke to our cleft team, and joined support groups.  Having a support group has been one of the most reassuring parts of this whole journey.  It has given us a glimpse into what lies ahead for us in the next phase of this process.  We have been able to reach out to people who have been in our shoes and fully understand what we are going through.  It gave us so much hope to hear others’ stories about how they have persevered through some of the hardships that we are sure to encounter.

On May 18th, Ethan entered the world and stole our hearts.  All the worry we had melted away when we saw his sweet face for the very first time.  He was beautiful and he was ours.

Cleft Team Consults

It seems like the doctor appointments never end lately, but I guess we better get used to it. Between monthly ultrasounds at the high-risk OB, every other week visits now at my regular practice, and cleft team consults, it has been a very busy time for us.  I don’t know how we would do it all if I was still working full-time.  It would mean taking a lot of time off.  Eric has been wonderful with accompanying me to every ultrasound and all the cleft team consults.  His work has been very understanding - they allow him to put extra time in on nights and weekends to make up for time lost during these appointments.

Baby Boy still has 11 weeks to go before his due date, but we’ve had a lot of opportunity to prepare ourselves for what is ahead.  We feel so fortunate to have an early diagnosis of cleft lip and palate so that we can interview cleft teams in our area and make the best decision for our family.  I think getting over this hurdle will be one way to greatly ease our nerves.

There are three cleft and craniofacial teams located in Maryland, DC, or Virginia and all of them have outstanding reputations.  We have met with all three teams (though we still have one more surgeon to go as there are two located at Children’s).  Each team talks highly about each other.  They have told us that we can't go wrong with any team.

Here is a summary of the differences between each:

Johns Hopkins (Dr Redett)

Hopkins’ typical approach is to do a 2 stage lip repair.  Lip adhesion is done around 3 months of age - this surgery is a somewhat temporary procedure. It is meant to bring the skin closer together and lessen the cleft so that the skin is better prepped for the definitive lip repair.  The second lip surgery would be completed around 6 months.  The palate is then scheduled for repair around 10 months.  

Lip Adhesion and Lip Repair at Johns Hopkins

The Hopkins team is open to us working with an orthodontist in McLean, Dr Maull, who happens to be a former member of their team but is now with the Inova Cleft Team.  The benefit with seeing Dr. Maull is that she is trained to use a special orthodontic pre-surgical device called a NAM (nasoalveolar molding).  She is the only orthodontist in the area who does this technique.  Hopkins doesn’t believe NAM is necessary to achieve great results.  Use of the NAM would require weekly visits to Dr. Maull and daily re-taping of the device which we would do ourselves.

Children's National (Dr. Oh)

Latham Device

Dr. Oh and Dr. Boyajian both are members of the Children’s National team.  We can decide which surgeon to work with if we go with them.  We have met with Dr. Oh thus far, and his method is to first, surgically implant a Latham device in the roof of the mouth at 2 months of age.  We would have to turn a screw in our baby’s mouth daily and see Dr. Oh bi-weekly for adjustments.  The definitive lip and nose repair would then be done at around 3-5 months, and the palate repair between 10-12 months.

Inova Fairfax (Dr. Baker)

NAM Device

Within the first 2-3 weeks of life, we would meet with Dr. Baker and Dr. Maull to determine if our baby is a good candidate for the NAM device.  Bilateral babies typically are, so we would likely go that route if we chose Inova.  Unlike the Latham device which is surgically implanted, the NAM is taped into place daily.  We would visit Dr. Maull for weekly adjustments of the NAM until lip repair around 3 months. Palate repair is done between 6-12 months of age.  Based on recent research, Dr. Baker believes that doing the earlier palate repair is beneficial to speech development.

One obvious and significant difference between these groups is the pre-surgical method each uses.  It is hard to say whether one is better than another.  I have heard from many moms of bilateral babies that the NAM was particularly effective for their child.

Some benefits of NAM:

• helps close the cleft
• decreases the amount of surgeries needed (both Latham and lip adhesion mean 3 total surgeries before age 1)
• decreases need for orthodontic work later on
• can help with feeding
• aligns premaxilla (the skin between the two clefts)
• pushes back protruding premaxilla and gums
• extends the columella (skin between the nostrils) over time - helps surgeon achieve a natural shape at repair
• shapes the nose with stents

It is worth mentioning that there are other surgical procedures down the road that we are looking at - 4-5 years, and 7-9 years, 16-18, and possibly as a young adult.  But it is honestly hard to think about those at the moment.

I’ve been in touch with other families who go to each of these teams and they all rave about each one.  We are lucky to have access to all three of them - it wouldn’t take us longer than an hour to drive to DC, Baltimore, or Virginia (as long as traffic cooperates).  So many other families have to travel hours to visit their cleft team. Our last consult is scheduled for next week.  We hope to make an official decision about a team afterwards.

Thank you for keeping us in your prayers.  This hasn’t been the most traditional route for preparing for a new baby, but what better way to spend our time than to ensure our precious boy will have the best care possible?  We cannot wait to welcome our little guy into the world in the next few months!

Seeing the Cleft for Ourselves and Fetal Echo

We’ve had a lot of appointments the past few weeks so it’s been pretty busy lately. I’m going to break up the appointments/consults into different blog posts - it’s a bit much for one post!

At our 25 week appt with the high-risk ob, they performed the monthly ultrasound plus fetal echocardiogram.  Although during the anatomy scan, they were able to look closely at the heart, this test provides an even more thorough look at the different chambers of the heart, blood flow, etc.

This is a shot of Baby's face. His head is turned to the side in this view.

During the ultrasound I asked the technician to point out our baby’s cleft to us.  Up until this point, we were only able to get profile shots and it is not easy for us to understand where the cleft is from that view.  

At the previous two appointments they had been fairly certain that baby will have a bilateral cleft lip.  Once the ultrasound tech, pointed it out to us, it was very clear to see that it indeed appears to be bilateral.  She even was able to get a view of the baby from the top of his head and could see through to the palate. There are two very obvious dark spaces where there are gaps, so we are expecting an impacted palate too. We also saw the baby on 3D, but their opinion was that it is easier at this point to diagnose the cleft from the 2D actually.

Then, two pediatric cardiologists came in to perform the fetal echocardiogram.  I suppose we are a little more on edge after having the diagnosis, so two doctors coming in was a bit of a red flag. As it turns out, I think one of them was learning from the other how to use this particular model of the ultrasound machine.

Baby stayed still for them to get all their images and his heart checked out wonderfully (as far as they could tell). They want to see him soon after birth. Not all problems can be detected through the fetal echo.  We should request that they check him before leaving the hospital.

Next time, I’ll provide an update about our latest consults with cleft teams in the area.

Understanding Cleft Lip and Palate

When we first heard that our baby might have a cleft lip and palate, we were beyond shocked.  Neither Eric nor I had ever met anyone born with a cleft (to our knowledge).  I thought it was something that occurred only in third world countries.  Commercials for Operation Smile and Smile Train came to mind - how could this be happening to our baby?  Did I do something to cause it?

One of the first things I did when I got home was start researching to better understand our diagnosis.  We needed to be informed.  Perhaps, as I did at first, you know very little about the condition too.  There are a number of wonderful resources out there that are great references.  I’d like to share some of my findings here.

Did you know…?

Cleft lip and/or palate affects 1 in 700 newborns in the US.  It is the most common birth anomaly.

Cleft lip and/or palate is more common in boys than in girls.  Cleft palate alone is more prevalent in girls.  Some ethnic groups, such as Asians and American Indians, have higher occurrences of clefting.  Cleft lip and/or palate occurs in 1 in 1,000 live births of Caucasian babies.

What is a cleft lip or palate?

During the first trimester, the baby’s lip starts to fuse together.  Sometimes the lip does not fuse properly and there is a “gap” left.  The gap can stretch as far as from the lip to the nostril.  A baby can be born with a separation on just one or both sides of the lip (on the left and right).

Diagram from Kidshealth.org

The palate may also be involved. If the child has a cleft palate it can include both the hard palate (the part that contains bone) the and soft palate (in the back of the mouth). A cleft could occur on one or both sides of the palate too.

Most cleft lips occur in combination with a cleft palate, although sometimes only the lip or only the palate is involved.

What causes a cleft lip or palate?

The cause of clefting is not entirely understood.  Family history often plays a role, as well as environmental factors, such as smoking, drinking, and taking certain medications during the pregnancy.  The risk of cleft lip/palate increases if the parent or siblings of a baby are also cleft affected.  Folic acid deficiency may relate to the cleft.  Clefts could be the result of a syndrome.  Many times, there is no clear link to its cause.  

As far as we know, we have no family history on either side and I have been placing importance on staying healthy and being careful throughout the entire pregnancy.  I was taking a prenatal vitamin (with folic acid) before conception and have continued to take it daily.

Why are clefts so unseen in America?

Families in third world countries don’t have access to the medical care and doctors that we have here in the U.S.  We often don’t hear about children with clefts because they are repaired so early in life.  Over time the scars aren’t as noticeable.

Some cleft affected celebrities include Joaquin Phoenix (microform cleft), Peyton Manning (palate only),  and Tom Brokaw.

Does a cleft lip or palate cause a baby pain?

No, clefting does not cause any pain.  The baby doesn’t know any differently.  Crying, smiling, and other facial movements are not painful for them.

At first, it may be difficult to look at pictures of a baby with a cleft, but please know that they are completely unaware and it does not hurt them.

Before and After Photos at Johns Hopkins Cleft and Craniofacial Center

What challenges does a baby with a cleft face?

While many people believe a cleft lip/palate to be an easy repair, there is a lot more involved than just cosmetic appearance.  The most immediate concern for a baby born with a cleft lip and palate is feeding and nutrition.  Babies born with a cleft palate have difficulty creating suction - therefore, breastfeeding a baby with a cleft palate is an unlikely scenario.  Instead, parents learn to use specialized bottles and nipples that allow them to squeeze pumped milk or formula into the baby’s mouth.  Frequent weight checks at the pediatrician are done to ensure baby is gaining weight properly.

Babies born with clefts will need surgery to repair the lip and/or palate.  Our baby may have 3 surgeries within his first year of life.  The first surgery occurs around 2-3 months.  Down the road, as the child continues to develop and grow, other surgeries may be necessary to repair the shape of the nose, revise previous surgeries, and prepare the mouth for permanent teeth to come in.

It is common for babies with cleft palates to have frequent ear infections.  A recurring buildup of fluid in the middle ear could cause hearing loss.  Tubes are often placed during surgery to help drain the ears and improve hearing.  Children with clefts frequently have speech related issues.  It is common for them to need  speech therapy or even additional surgeries to create normal sounding speech. Children who are cleft affected can have a number of dental abnormalities, as both baby and permanent teeth emerge.  Teeth may not come in at the site of the cleft or may come through in unusual places in the mouth.  Orthodontic treatment is necessary.

Due to all of these challenges, doctors often work as a multi-disciplinary team to treat babies who are cleft affected.  The team may include a plastic surgeon, orthodontist, speech and language pathologist, ENT, audiologist, psychologist, pediatrician, social worker, nutritionist, geneticist, and nurse practitioner.

Another adversity we are preparing for is the acceptance of our child.  The advances in medicine and technology are amazing and many times, once the child is older, you can hardly tell that the child ever had a cleft.  However each individual handles scarring differently.  Particularly, during the school age years, children with clefts are more susceptible to teasing and bullying by their peers.

It is likely that our child will deal with many years of treatment related to his cleft.  We are very thankful at how treatable this condition is, but we know it won’t be an easy road.  We hope that our journey will bring more awareness to this condition, and along the way, maybe our blog will reach others who are seeking out information and reassurance after receiving a diagnosis of their own.  Please feel free to ask us any questions as we continue this learning process.

A Seemingly Routine Ultrasound

Around 12 weeks, we went to an appointment for our first trimester screening.   This is an optional test that involves a blood test and a high resolution ultrasound to determine your risk for some chromosomal abnormalities (such as Down syndrome). We had done the screening during our first pregnancy and honestly weren’t too concerned going into the appointment. Instead, we were excited to get to see our baby moving for the first time.

Well, Baby put on quite a show and was bouncing around all over the place! We were told to get ready for a very active baby. (Umm, we already have one of those!)  It did take the ultrasound tech some extra time to complete all of her scans.  Baby was either moving too much or wouldn’t shift for her to get the images she needed.  But the measurements they took to evaluate our risks looked good.  

The pregnancy was starting to feel real.  Up until that point, I wasn’t showing very much and being pregnant with a toddler means you are constantly on-the-go. No time to really slow down and think about how life will change.  Its not quite the same experience as the first time around where there was tons of anticipation and planning for a new baby.

When the ultrasound tech was done with the scans, she then sent in the doctor, as we were used to last time. I figured she’d take a quick look, say everything is fine and we would be on our way. Instead, the doctor tells us, “We aren’t sure, but it looks like your baby may have a cleft lip and palate.” It is hard to put into words how we felt upon hearing this news.  It was something we never anticipated, so we were certainly shocked to hear that this could be true.  The uncertainty of everything was terrifying. Here we are only 12 weeks in finding out that our baby may have a birth defect.  We just wanted our baby to be healthy and well.

We went home overwhelmed with this possibility, knowing that in 4 weeks when the baby had grown more, they could get a clearer picture of the face and have a more definitive answer. So we waited a grueling 4 weeks. In the meantime, I researched a ton - if this was going to be our future, I wanted to know what to expect.

When we returned in 4 weeks, it was confirmed by the ultrasound tech that our baby will have a cleft lip and most likely palate. I felt that I had fully prepared myself to accept this news, but of course we were hoping to hear otherwise.  We then met with the perinatologist, who was incredibly compassionate.  He reassured us that he would help us receive the best care for our baby.  We were also very excited to learn at this appointment that we are expecting another BOY!

So what now? We have been seeing our high-risk specialist every 4 weeks for regular ultrasounds. Last time, we had the anatomy scan during which they thoroughly checked the heart and everything appears to be functioning normally. We will continue to have these appointments until I deliver.  With a cleft lip and palate, there is a chance that it could be a sign of other syndromes, so we have done a bunch of noninvasive blood tests and will continue to have ultrasounds to monitor the baby.  To this point, all indications are that the cleft is isolated and we are trying to stay positive regarding other conditions.

We have been learning about the best cleft repair teams in the area.  Luckily, the DC area is home to several top notch groups: Johns Hopkins, Children’s National, and Inova Fairfax.  We had a consult with a reconstructive surgeon at Johns Hopkins about a week ago.  It was a very positive experience - speaking with him and the program coordinator was very reassuring.  We will be meeting with other teams in the coming weeks and hopefully make a decision soon afterward.

Here's one of the latest sonograms of our little one. We were lucky to catch him mid-yawn!