What’s day-to-day life like with Bohring-Opitz Syndrome?

Hazel BeanMy day-to-day life is very different than I imagined when I was expecting. Because of Hazel’s special needs, I feel like we are stuck in the infant stage for years rather than months. Being stuck in a developmental stage for longer than normal has its similarities and differences from the typical parent’s journey.

Because Hazel doesn’t grow and develop at the normal pace, she has different requirements. Children with BOS tend to have sleep issues, and Hazel sleeps very late. She often doesn’t get up until 9 or 10 o’clock in the morning. While she sleeps, I’m able to work, which is a blessing. But it certainly makes getting out of the house at a decent hour impossible! We have to make sure all of our appointments are in the late morning or early afternoon to accommodate. Hazel needs help holding her bottles and gets spoon-fed all of her meals. We are working on self-feeding, but this is slow going.

Finding adequate childcare for Hazel has been a challenge. I enjoy working part-time from home as a research librarian and have looked for a part-time daycare outside of our home so that Hazel can have a little socialization. However, we don’t feel that typical day care centers can give her the one-on-one attention she needs, and I have yet to find a recommended home daycare that doesn’t have an extensive waitlist!

Hazel has a low immune system and catches colds very easily. Colds are devastating for her, knocking her out for a week or more while her body heals. The risk of shared germs is a huge concern for us, as well. Currently we have a part-time nanny that comes to the home and is great for the intensive assistance and stimulation that Hazel requires. The cost of a nanny is one of our largest expenses and I wish we could afford more hours. There are times when I think we could put Hazel in a daycare center to free up some money, but I haven’t found the solution for this yet.

The nanny feeds Hazel her lunch, takes her for walks, and works on her developmental exercises. Some days Hazel is more engaged than others. Some days she sleeps for hours, as if she’s making up for a night of insomnia. It always seems like she takes these monster naps when we have somewhere to be!

Some afternoons, I take Hazel to physical or occupational therapy. We have recently reduced the amount of sessions she attends, because it was taking a toll on me and we weren’t seeing huge gains by having her attend 5-6 different lessons each week. After life settles down and we get our childcare situation a little more under control, I will concentrate on increasing the therapies that I feel are most beneficial to her.

Hazel is not very mobile, and spends a lot of time on a blanket in the middle of our living room, surrounded by her toys. She’s a little vocal, but not very often. Some days she’s engaged and plays, and other days she is withdrawn and not very attentive. I still do not know if this is seizure activity, or what’s going on in her brain when she’s not very responsive. When I’m around a typically-developing child, I see how exhausting it would be to chase around a toddler!

Hazel spends at least 30 minutes a day in a stander, which supports her in a standing position and allows her muscles and bones to get some weight bearing, which is important for her strength and her bone health. She’s allowed to watch TV at this time, and some days she’s more engaged in Curious George than others!

Like any mother will tell you, running errands is a lot easier when I have a sitter. Taking Hazel into the market involves either wearing her in a baby carrier, or taking her in a stroller if I only need a few items. She cannot sit in a shopping cart by herself, and I have yet to find a solution for a supportive seat in a cart. As she gets heavier, this is going to have to become a priority!

Our evening routine is very similar to a typical family’s. I feed Hazel pureed food and give her a bath. She gets an evening bottle and goes to bed at 9 pm. We read a book and sing a lullaby. Often, it takes Hazel an hour or more to fall asleep, but she’s content to be in her crib by herself.

Many nights she still spits up in bed. Often, we check on her and have to change her pajamas and sheets. She tends to sleep through the night, but there’s also times that we check on her overnight and she’s wide awake, but not complaining! I really have no idea how much quality sleep she’s getting at night. This may be due to her sleep apnea, which we will soon treat with a CPAP.

Our days tend to be very routine and will likely stay this way until Hazel goes to school. She can start public school exceptional education when she turns three, which will alleviate our childcare expense and my search for adequate child care. I’m not sure I’m ready to send her to school, though!

Some days it feels like being stuck in a developmental stage for longer than normal means that life will never change. But I remind myself that Hazel is showing developmental improvements, it’s just at her own pace and in her own time. I get to cuddle with my “baby” for much longer than most parents, which is one of the blessings I try to count every day.

The milestones are different, but we are proud parents!

Proud Hazel and DaddyI am very proud of Hazel’s accomplishments in overcoming her challenges with feeding. We first knew something was seriously wrong with my daughter when she aspirated breast milk on the second day of her life. She was whisked away to the NICU, and we didn’t get to bring her home until she had a g-tube placed. This began a nine-month -long journey into feeding therapy. We were terrified that she would aspirate again, but desperately wanted to believe that our child was completely normal but somehow lacked growth in the womb. We thought that if she could learn to coordinate her suck and swallows, then she’d be fine and lead a normal life forever. Denial is part of our journey. 🙂

We started with a feeding specialist the first week she came home. We powdered rice cereal to thicken her milk, but then it made it impossible for her to suck through the hole of the nipple. (Would you be able to drink a milkshake through a cocktail straw?) I remember talking to Hazel on the drive to her feeding appointments and just saying, “Just drink one milliliter of milk today, that’s our goal.” We would anxiously watch her stats, using a pulse oximeter to make sure her oxygen didn’t dip too low. At first, I was only able to feed her by mouth once a week at therapy appointments. At home, I’d feed her by tube while giving her a pacifier and holding her to still have that important bonding time. Eventually, I was able to try to feed her by myself at home once a day. We didn’t have a pulse ox at home, so this was very scary for me! She did increasingly well, and soon we were practicing drinking at every feeding time.

We monitored how much she drank at every feeding, then had to supplement with the remainder of the prescribed milk dosage with the feeding tube. Eventually, I made the decision to stop thickening the milk, and she didn’t show signs of aspirating. We found the right orthodontic nipple that allowed her to drink with a weak suck, and finally, after many months of training, she was able to drink throughout the day on her own!

The biggest challenge came when we decided to test to see if she could support her caloric needs by drinking by mouth alone. No more overnight feeds to supplement her calories. Would she wake up and let me know she was hungry?

We decided she was ready for a week-long trial when she was just five months old (that seems so long ago!). I remember the date – February 9th. Her father was away for military training for four months and this was my first long-term period as a single mom. I wanted so badly for her to succeed!

That first night, she woke me for a feeding on her own. I was thrilled! She continued to take in enough calories to maintain her slow and steady growth curve. She fed herself by mouth that first week, and we continued to feed her by mouth every day after. Her g-tube was removed in May of that same year.

I learned many parenting lessons during this struggle with feeding. I learned to push my daughter – just enough – to challenge her to reach her limits and go beyond. I learned to experiment and try new things. I learned to question the parameters placed on my child. And I learned to trust myself more as her mother than all of the experts who only see her for a fragment of each week or year.

I’m very proud that we succeeded, after a lot of hard work, in getting Hazel to feed by mouth. It was an amazing accomplishment for her, and I am proud of the dedication that I placed in helping her realize her potential. The lessons we learned about testing her limits will help us continue to be proud of her many future accomplishments.

Does a diagnosis change things?

IMG_5483My daughter was diagnosed with Bohring-Opitz Syndrome (BOS) on May 9, 2015. She was 20 months old at that time. We knew about a week in advance that whole exome sequencing showed a mutation, and the genetic counselor wanted us to come in at the earliest possible time. We had to drive down to Orlando and take the day off work. I was nervous about getting the diagnosis, but I was also excited to finally have an answer. Every test prior had come back “normal”. But my daughter was not displaying normal development. She was severely behind at this point, so we had long ago given up the idea that she just “needed to catch up”.

I wanted a diagnosis so that we had a new path of treatment to take, and I wanted to belong to a community of support other than those who were all grouped together as undiagnosed. At this point, the closest diagnostic group to which I felt we belonged was the Facebook group “Hypotonia Parents Connection”. (We are still very active in this wonderful group.)

We nervously waited in the reception area, and were called back very quickly. The genetic counselor proceeded to tell us that our daughter had a rare genetic condition called BOS. There were only 42 published cases of this syndrome worldwide at that time. Interestingly enough, I had already heard of this syndrome due to the awareness initiatives of another BOS mother.

The genetic counselor did not seem to be knowledgeable about the syndrome. She just read the symptoms from the bohring-opitz.org website. She handed us the printout of the website and recommended that we join the support group on Facebook. She gave us the only paper that had been published on BOS in the US, which had some recommendations on preventative treatments based on studies of previous patients.

We left feeling indifferent at first. During the two hour ride home, we called family and told them the diagnosis. We told them we felt no different – that they could have told us she had “Hazel Syndrome” and it would have felt the same. Our daughter was still our daughter and had the same symptoms regardless of the diagnosis. The visit with the geneticist was a blur, but the two points that really hit home were:

Hazel would never live independently. She would always be dependent on us.

The mutation was a spontaneous one, so we would have an almost zero chance of this happening again with a second child.

However, the days following the diagnosis were very rough. We read the medical literature and the outlook was dim – children born with BOS often didn’t make it past their second birthday. However, our daughter was almost two, and she didn’t seem to have the severity of syndrome that many of those who passed away did. Most children with BOS have frequent respiratory infections, apneas, and bradycardias that keep them in the hospital. Fortunately, our daughter had not been hospitalized since leaving the NICU at one month old.

I cried a lot when I read about the other children and the severity of their issues. I joined the Facebook group and was immediately accepted into this very active, yet tiny, group. I felt fortunate that our daughter seemed to have a mild to moderate occurrence of this syndrome.

It’s been eight months since her diagnosis, and I am still going through the cycle of grieving for the loss of a typical parenting experience. Yet, when I’m depressed or feeling low, I take comfort in the fact that our experience is helping others who may receive this diagnosis in the future. Every day, I try to do something that helps increase the community of knowledge surrounding this syndrome, or something that touches the life of someone dealing with a similar situation.

And every day I am thankful for one more day with my amazing, tough, and sweet little girl.

To learn more about BOS, visit: http://bohring-opitz.org/

To help other children like Hazel, please consider donating to the Bohring-Opitz Syndrome Foundation:

http://bos-foundation.org/get-involved/

Hazel’s Birth Story – Part II – September 1, 2013

At 5:33am on September 1, 2013, Hazel was born. She was 4 lbs 9 oz and was 17 inches long. But while trying to feed her the following day, she turned dusky and was whisked to the NICU. She was silently aspirating. She spent a month in the NICU before leaving with a G-tube.

She immediately began getting occupational therapy for feeding. It was very challenging to find the right nipple that would work for her (she had a weak suck) and the right thickness of milk. After about six months of therapy and finding the Nuk orthodontic nipples, I was able to try to exclusively feed her by mouth. It was scary, as I was terrified she’s start aspirating again. She never showed clinical signs of aspirating, so at 9 months they let us take out the G-tube. Hazel now feeds exclusively by mouth but mainly formula and some purees. She still lacks the maturity for real solid foods, but we practice.

Hazel also goes to physical therapy once a week. She began rolling over after the G-tube came out, and she has head control but can tire easily and prefers to lean her head against support if it’s available. She cannot sit on her own but she’s working on it. She isn’t crawling yet, although she sure can roll across the floor! She is starting to make new sounds, but isn’t verbal. But she can certainly communicate pleasure and displeasure!

During this time we kept searching for a diagnosis. She had a chromosomal microarray and was tested for Prader-Willi Syndrome. She went through two MRIs, an EKG, metabolic panels, and went to many specialists. All tests kept coming back normal, which was both a relief and a puzzle. After two EEGs, she was diagnosed with occipital lobe seizures and takes Trileptal to prevent grand mals. She battles constant constipation and is on Miralax daily. She had severe reflux in the first year of her life, but it has improved as she ages.

In May of 2015, we finally received our diagnosis via whole exome sequencing. She has Bohring-Opitz Syndrome, a very rare genetic syndrome with only a little over 40 diagnoses worldwide. We started a new journey of learning to live with this very severe syndrome.

Hazel loves being outdoors, enjoys playing with her dad, and really responds to lights. She likes textures and feeling soft and rough things. She is known for her masses of curly blond hair and her mint green glasses. She is the sweetest, toughest girl we know!

Hazel’s Birth Story – Part I – August 30, 2013

My pregnancy was a typical one. All of the expectations, anxiety, and joy of bringing a new life into this world. At my 37 week check-up, I was told I was “having the pregnancy that everyone dreams of”. No complications, great health, loving life.

At week 38, I watched the midwife’s eye grow larger with concern when my baby’s vital were low. She also noticed that my fundal height had not increased since the last week. They strapped me to a monitor, which indicated the baby’s heart rate had slowed. They were concerned, and scheduled me for an ultrasound later that day. This was supposed to be my last day of work before leaving for maternity leave and life as a stay-at-home working mother.

I called my husband and shared the news. I remember trying to play down my concern at the time. I thought they were just being very cautious. We returned for the ultrasound, and the technician joked as she probed my belly. She told us to return to the midwife’s office for the results, but then thought again and said she needed to go speak to the midwife herself. At this moment, we realized that something was wrong. She walked us back to the waiting room and went in to see the midwife. We started to become more and more anxious as we waited. What did she see that made her so concerned?

When we saw the midwife, she reported that our baby was very small for her gestational age. They wanted to consult the MD on call and were going to send us to the local university for further diagnostics. However, we couldn’t get into that lab until the following week (because it was Labor Day weekend). The midwife and MD debated on what we should do. After hours of anxiety and debate, they recommended that we induce and welcome Hazel into this world early so that she could receive any care she needed outside the womb.

We decided to follow through with induction and return to the hospital that evening. We rushed home to pack our bags, scan the unfinished nursery, take care of the dog, and call our family. I remember sobbing as I looked at the ultrasound photos from her last healthy scan. What was going on with my little girl?