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January – A Tough Month

Hazel - Bohring-Opitz Syndrome

Looking for a four-leaf clover

Greg and I would like to thank everyone for their support through a very tough month. We’ve been asking for thoughts and prayers on social media, and I wanted to offer a summary of what’s been going on with Hazel.

On January 9th, we went in for a sleep study to see if the tonsillectomy/adenoidectomy reversed Hazel’s severe sleep apnea. However, instead of the apnea improving, it was much worse! Her oxygen was dipping very low, and she was holding her breath while awake and have central apneas while trying to fall asleep. They ended up putting a bi-pap on her during the study because she was desaturating in oxygen so often and so low. She only slept 20% of the time, so it’s hard to say if that’s at all close to a real representation of what she actually does at night.

We started monitoring her oxygen levels at all times. We knew she developed a behavior of breath holding and heavy breathing while awake, and thought it was due to taking her off her anti-epileptic meds back in the fall. We discovered that her oxygen was not only desaturating at night, but through out the day as well. We don’t know if this breath holding is a learned behavior or an involuntary neurological action. So we started her back on her anti-epileptic meds to see if that helped. We also started using a bi-pap at night to help her sleep apneas.

After four very stressful nights on the bi-pap, she started having partial/focal seizures. They’d last about 30 seconds on average. Her left side of her face would scrunch into a grimace, her breathing would stop, and she’d twitch in her arms and legs at times. It was very scary, and was happening between 5-10 times a day. We upped her anti-convulsants and hoped they would control the seizures. After four days of no seizures, she had three more intense seizures on Jan 30. We decided to have an overnight EEG to get a picture of what’s going on in her brain.

"But I ordered tater tots!"

“But I ordered tater tots!”

The extended EEG showed no seizure activity, although her EEGs are always abnormal. Even on anti-convulsants, she has sharps in the left temporal lobe of her brain. She showed runs of rhythmic activity that were potentially building to a seizure, but after 10 seconds they leveled out. We discovered that her apneas are not caused by seizures, but we are still left with questions on why they have become worse.

Our next steps are to see her pulmonologist on Monday. Our main concern is to get her apneas and desaturations under control. We follow up with an epileptologist in a few months. She has not had a seizure (knock on wood) since Jan 30.

Our current plan of care is to keep her on oxygen 24/7. She wears a pulse oximeter that alarms if her oxygen dips below 89%. Her apneas are somewhat manageable at night. She seems to have the apneas while falling asleep at bedtime. When we hear the alarm, we gently awake her to get her to start breathing again. After she finally falls into a deep sleep, she doesn’t have an apnea unless she’s aroused out of deep sleep…and then the cycle starts over again. She has not been back to school since the sleep study. We will probably keep her home for the rest of the semester, and have applied for skilled nursing to help with her care at home.

I am so thankful to have this equipment that helps us monitor her breathing. I’m so thankful that we have good insurance that covers the cost of oxygen, bi-paps, pulse oximeters, etc. And I’m most thankful for the outpouring of love and support that we have received from our friends and family. Thanks so much!

With love,
Carrie, Greg & Hazel

To help kids like Hazel, please consider donating to the BOS Foundation:

http://bos-foundation.org/

We are currently fundraising for awareness initiatives to get more researchers interested in studying BOS. We hope to have a research fund started this summer, to help support the scientists in their search for the best treatments of BOS.

The BOS Support Group’s informational website is a great source of information about BOS:

https://bohring-opitz.org/

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We met mice with BOS!

On Friday, November 18, 2016, our family had the opportunity to meet with two researchers at the University of Miami who are studying the gene that causes Bohring-Opitz Syndrome (BOS). Hazel, Greg, and I visited these scientists to learn more about current BOS research, and to find out how to further motivate and fund research on BOS.

Dr. Juan Young and Dr. Feng-Chun Yang were kind enough to meet with us for the morning so we could tour their labs, introduce them to Hazel, and learn about their research projects.

As many of you know, BOS is caused by a mutation on the ASXL1 gene. This mutation causes BOS at conception, but can also cause some forms of cancer when the ASXL1 gene mutates in adulthood.

First we met with Dr. Yang, who explained that she studies the molecules that cause cancer. She primarily researches mutations in the ASXL1, ASXL2, and ASXL3 genes. Her ultimate goal is to discover therapies to treat cancer.

Dr. Young is a neurobiologist who studies the genetic causes of inherited diseases. He works to create animal models who have genetic diseases. He is known for his work with a genetic disorder called Rett Syndrome. We are very fortunate that both doctors are medical advisors to the Bohring-Opitz Syndrome Foundation!

The doctors spent time giving us tours of their labs, introduced us to their colleagues and doctoral students, and were patient when our eyes glazed over at high-level scientific concepts. They were very interested in meeting Hazel, because neither had met a child with BOS before!

asxl1-mice

Photo credit: https://goo.gl/6nMTeh

After learning about their research, Greg and I were able to reach the pinnacle of our visit — a chance to meet the mice that have BOS! Unfortunately, Hazel was not able to meet the mice (we promised her a trip to the pet store this week) because the animal model area is very sterile. We had to put on a ton of protective clothing, walk through an air bath, and wear masks so that we did not infect the mice with any outside contaminants.

Dr. Young brought us back to the mice room, and pulled out the tank containing the mice with BOS. The mice had just had pups in two of the containers, so we couldn’t disturb them. He pulled out an adult mouse and held it out for us to inspect. He then brought us to the mice testing area, where they have standardized tests and mazes to study things like anxiety, ability to learn, memory, and even empathy! We were amazed. We were able to ask Dr. Young about how the mice with BOS perform in the tests. He explained that the mice with BOS seem to have some learning disabilities and anxiety issues that typical mice do not have.

The purpose of testing the abilities of the mice with BOS is to eventually develop therapies that could help people with this mutation. This could even include gene therapy, which blew my mind. Imagine seeing gene therapy for children with BOS in our lifetime! (Let me make it clear that we are probably very far from this happening soon, but hey, one can hope.)

We then had to relieve Dr. Yang, who was kindly watching Hazel while we toured the animal model area. 🙂

Next, we met Dr. Mustafa Tekin, who is a clinical and molecular geneticist at U of M. He was gracious enough to meet Hazel between seeing patients at clinic, and we will be back to meet with him in clinic so that we can add to the knowledge mix of these researchers at the university.

So where do we go from here?

A BOS patient registry is going to greatly help further their research. One of our other medical advisors, Dr. Bianca Russell, has one in the works, and is currently navigating the red tape involved with setting up a research registry. She hopes to launch it very soon, and it will be extremely important for all people affected by BOS.

Hazel meets BOS researcher Dr. Juan Young!

Hazel meets BOS researcher Dr. Juan Young!

Doctors Young and Yang are connecting us with other researchers and partners to help us spread awareness of BOS and continue to motivate BOS research. Hazel, Greg and I will be attending the ACMG Annual Clinical Genetics Meeting in Phoenix in March of 2017 to continue to network with researchers and spread awareness of BOS. Hazel and I will meet with the doctors at the University of Miami on a regular basis to touch base on research (and to check on the mice!).

We had an amazing day, and are inspired and filled with hope to see the passion and dedication of these researchers.

A huge thank you to Dr. Young and Dr. Yang for spending so much time with us!

To help the BOS Foundation continue our progress in motivating BOS research, please donate today! Your donations will help us attend the ACMG Annual Meeting in Phoenix in March as well as other rare summit events throughout the year.

Donate via PayPal: https://www.paypal.me/bosfoundation
or
Send a check to: Bohring-Opitz Syndrome Foundation, P.O. Box 560475, Orlando, FL 32856

Thanks for your continued support! All November and December donations of $20 or more will receive a BOS holiday ornament. Donate before December 10 to get yours before the holidays!

Help Hazel meet new BOS friends!

Meeting other children with BOS for the first time!

A few weeks ago, Hazel, Greg and I were able to meet with two other families who have children with Bohring-Opitz Syndrome. This was an exciting experience for us, as we were able to meet other children like Hazel for the first time. Since there are less than 60 known cases of BOS in the world, it’s very rare to be able to meet other families living with this condition. We were able to compare treatment notes, try out each other’s equipment, and bond over our shared parenting experience.

In August, the BOS Foundation is hosting the first official BOS meet-up in Philadelphia. This meet-up will give other families the opportunity to have the same experience we had, but on a much larger scale. Families will unite to celebrate our children and to share information on the best ways to care for them and thrive as very unique families. We will also have the chance to meet a few of the medical experts who research BOS. This is a fantastic opportunity to raise awareness of BOS among our medical community, motivate BOS research, and get answers on the best course of treatment for Hazel and children like her.

I have a personal goal of raising at least $500 to help pay for this event.

Could you help me meet this goal? Your funds will help pay for the cost of the venue, food, medical advisory board travel, face painter, and goody bags for the families. Hazel has agreed to send a personalized piece of artwork to every friend and family member who contributes by June 30!

To donate to the BOS Foundation via PayPal or check, please visit:

http://bos-foundation.org/make-a-donation

You may also purchase BOS Awareness T-Shirts through our Booster Fundraiser. The sale ends June 30!

https://www.booster.com/bosmeetup

Thank you so much for your support of Hazel and other kids living with BOS!

Defining independence for Hazel: Inch by inch

Hazel loves things that light up!

Hazel loves things that light up!

Each year, we sit down with our Early Intervention Service Providers and come up with a plan for Hazel’s services. When creating Hazel’s therapy objectives for the year, I decided to focus on helping her become more independent. I thought these goals would help alleviate some of the stress I felt as a parent, while benefitting Hazel’s development. After a lot of thought, I felt we should focus on Hazel’s self-feeding skills, mobility, and communication.

While we are so happy that Hazel now feeds without a tube, she does take a considerable amount of time to feed. She drinks from a bottle and eats pureed food, but she does not feed herself. She is not yet holding her own bottle, and she requires the same assistance when eating purees. Her bottles can take the longest to consume. It takes her anywhere from 10 to 30 minutes to finish a bottle, and she drinks three to five a day. She’s faster with purees, and these only take around 10 to 15 minutes to finish. A more challenging part of feeding is Hazel’s lack of trunk control. Because she requires a really supportive high chair, it is difficult to plan her meals outside of the house. We either have to bring along her adaptive Kid Cart, or feed her in an umbrella stroller or car seat. I am becoming better at being more flexible about feeding her outside of the home, and I feel less restricted by her feeding schedule. However, I do feel like our daily schedule revolves around when she needs to eat next and deciding what we can fit in between bottles and purees.

When she’s not feeding or resting, Hazel is either playing or practicing her therapy exercises. She has been able to roll over since she was nine months old, but she is not yet sitting without support. When she’s on her belly, she can push her bottom in the air, or prop up on her elbows for a short amount of time, but never both at the same time. At times she seems to be trying to crawl, but she’s not coordinated enough to get anywhere. When she’s motivated to do so, she can travel around the room by rolling or wiggling across the floor. Other times she’s content to lay in one place. I want nothing more than to see her army crawl or sit unsupported. While progress is slow in this area, I do get hope from the tiny inchstones she’s making in her physical strength. She kicks and splashes more in the bathtub than ever before, and she will prop sit without complaint for a lot longer than she used to be able to. As Hazel has always shown us, she will make her milestones in her own time. I do hope to see her move purposely towards toys by the end of this year. She will make her momma even more proud!

Besides her physical therapy, Hazel sees a speech therapist, as she is still waiting to verbally communicate with us. She makes many different types of noises, but nothing that seems to be communication. She is very social and will giggle and laugh at times, but we have not yet been able to get her to demonstrate preferences to us. For example, we are working on getting her to choose between two toys or two different foods. We want her to either fix her gaze on the item she wants, or two make a verbalization when the preferred item is in front of her. We are also working with adaptive switch toys to teach her cause and effect, which is an important part of learning to communicate.

Each day, we focus on a few exercises that work on Hazel’s skills in feeding, mobility, and communication. While the definition of independence is different for our child, we celebrate our inchstones in development as any parent would. There are days when I push Hazel and myself a little harder, and there are days when I just want to lie on the floor with her and cuddle. While I have to revisit these goals occasionally to see if we are on track, I also have to remember that Hazel will continue to do things in her own time, and we are here to support her along the way.

If you have ideas on ways to help Hazel feed herself or thoughts about things that may motivate her to mobilize, please send them my way!

How Hazel is helping science: Using Face2Gene

Hazel - Bohring-Opitz Syndrome - Newborn

Hazel – Newborn

After we received our diagnosis of a rare disorder called Bohring-Opitz Syndrome, I wanted to know how we could help others receive an accurate diagnosis faster and more easily than we did. A few months before Hazel’s diagnosis, I learned about a facial recognition app called Face2Gene that identifies facial features from various syndromes and helps lead geneticists towards a suspected diagnosis. At that time, we had already given blood samples for whole exome sequencing, so we did not use the Face2Gene app on Hazel to search for a possible lead on a diagnosis.

But now we have come full circle. The Bohring-Opitz Support Group created a portal that allows families and medical professionals working with children and young adults diagnosed with BOS to upload their photos. These photos will be loaded in the F2G system, and as I understand it, an algorithm will be created that will compare undiagnosed children’s facial features to known syndromes in the database.

Hazel - 1 month old

Hazel – 1 month old

The process was very easy. I used the BOS portal, and uploaded several photos of Hazel at various ages (no glasses on, facing forward). The hardest part was picking the best photos, and then figuring out how old she was at each photo! After uploading the photos, I was asked to include limited demographic information such as race and gender. The process took me a little over an hour and most of that time was looking through the hundreds of photos to select the best ones!

I am very excited that our family can contribute to this project. My hope is that many families with BOS will contribute to the F2G BOS portal and that researchers will soon use the app to help lead an undiagnosed child to an accurate diagnosis.

Additional questions about how F2G works should soon be answered in an upcoming webinar with the F2G team and the creators of the BOS Support Group (Date TBD). Any interested BOS families, please stay tuned to their announcements!

To learn more about the BOS Face2Gene/BOS Support Group project, please visit:

Face2Gene

If you suspect your child may have BOS, please consult your geneticist and then visit the BOS Foundation to learn about how we are helping families affected by BOS:

http://bos-foundation.org/

Here are more of the photos I used in the F2G BOS portal. Isn’t she awesome?

Hazel - 2 months old

Hazel – 2 months old

 

 

 

 

 

 

Hazel - 5 months old

Hazel – 5 months old

 

 

 

 

 

 

 

Hazel - 12 months old

Hazel – 12 months old (1 year)

 

 

 

 

 

 

 

 

 

Hazel - 24 months old

Hazel – 24 months old (2 years)

 

 

 

 

 

 

 

 

 

Hazel - 29 months old

Hazel – 29 months old (2 years, 5 months)

 

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.