Bardet-Biedl Syndrome

In this day in age it seems like we’re all about hopping on social media to announce all our highs and lows. We announce pending births, job losses, weddings, deaths, etc. I have yet to see an announcement etiquette for “my child was diagnosed with a rare condition” beyond banners that are the Facebook equivalent of bumper stickers.

Other parents may be like me—confused and wanting support from people who understand; they might join groups specific to that disease. I am not one to post banners or share memes, so on “rare gene day” (which is February 29^th by the way) I really debated about posting something. It did not feel genuine to who I was though, so I decided not to. Then I had to ask myself, why did I even want to share this? For attention? No, not my style. For awareness? Maybe, her condition is rare and it is nice to spread the word. To be done with it? Bingo! It would be like ripping the band-aid off. I really just want people to know, but actually telling them can be tricky.

I can’t always remember who I have told, and I also do not want the “news” to dominate the precious little time I get to catch up with most of my friends and family.  It is also REALLY draining to hash out the fine print of your child’s syndrome. It makes me think about it all the time—How do I approach the topic? What news do I have for them? Is it going to be uncomfortable for them to react to?

It isn’t that I don’t want to engage with people about this aspect of our lives, it is just that the immediate reveal and subsequent questions can often feel like the first minutes of a blind-date. So, I decided to compile this FAQ list:

General

What is Eloise’s condition/syndrome/disease? Eloise has Bardet-Bield Syndrome (BBS).

What is Bardet-Biedl Syndrome (BBS)? “While there are more than 20 genes associated with BBS, the underlying cause regardless of gene is malfunction of primary cilia, a key component of cellular communication. BBS is thus categorized as a ciliopathy, or a disease of the cilia” more info at BBS Family Association

Why do cilia matter? Look, I’m not a doctor, click the link and they do a nice overview.

What are the common symptoms: According to NORD:  Bardet-Biedl syndrome is a rare, genetic multisystem disorder characterized primarily by:·       

• Deterioration of the cells that receive light stimuli (cone and rod cells),
• Deterioration in the retina of the eyes (progressive cone-rod dystrophy)
• An extra finger near the pinky or an extra toe near the fifth toe (postaxial polydactyly
• A condition in which fat is disproportionately distributed on the abdomen and chest rather than the arms and legs (truncal obesity)
• Kidney (renal) abnormalities
• Learning difficulties

How did Eloise get BBS? She inherited it. This is a recessively-inherited genetic syndrome. Lorenzo and I are both carriers for it. Any child of ours would have a 25% chance of inheriting the disease, a 50% chance of being a carrier of the gene but NOT inheriting the disease, and a 25% chance of not being a carrier at all. We are not sure if Morgan is a carrier (we will let her decide if she wants to be tested when she is older), but she displays no symptoms of the disease. Nobody in our family has ever had BBS as far as we know.

Vision Questions:

Is she really going blind? Yes, but slowly. If you clicked either of the links above, you can get more detailed information, but her night-vision is already diminished, and it will continue to deteriorate as she gets older.

How long will it take? We aren’t sure. Doctors can track her progress, but not determine the rate of deterioration.

Is that why she wears glasses? No, she is also near-sighted and needs glasses for that.

But she can’t really be going blind? Yes, she can and is.

But technology…? Yes, we are hopeful there will be innovations in technology, but as of right now there is no cure for the retinal deterioration caused by her disease.

Is she learning braille? Yes, and she loves it!

Are you sure, she seems fine? Yes!  I know her functional vision is currently good, and it seems hard to imagine.  Please stop asking me if we’re sure though—really it gets upsetting after the 3^rd and 4^th time.

 Do you feel a lot of pressure to make sure she sees everything? Yes.

Other symptoms:

Is the blindness you biggest fear concerning BBS? No, out of everything I feel like that is sad, but not as scary as some of the other symptoms like possible kidney failure and severe weight issues.

Will she need a kidney transplant?  Unlike the retinal degeneration (which is a hallmark trait of BBS), kidney malfunctions only affect a subset of BBS individuals. She might never have kidney problems, or she might need a transplant someday. Right now, her kidneys seem to be functioning great. She sees a pediatric nephrologist for monitoring once a year.

What is truncal obesity? That means that fat deposits disproportionally in the abdomen and chest.

Are there other issues confounding the weight issue? Yes. This is one of the biggest areas of study right now in fact regarding BBS. We all know being overweight, and especially truncal obesity, is not healthy for bodies; it can severely diminish health. In addition to the truncal obesity, studies are finding hormonal differences in BBS individuals. This study found that, “BBS patients lack the negative regulatory mechanisms of appetite-regulating hormones with respect to nutritional status and exhibit resistance to anorexigenic leptin. This results in a shift towards the orexigenic effects of this self-regulating system. These alterations may in part be responsible for the disturbed appetite regulation in BBS patients.”

Can you just feed her healthier foods? The issue is seriously confounded by the fact that Eloise also has sensory issues that make her gag on most fruits and vegetables. It is very difficult to get her to eat healthy foods. This, of everything, is what keeps me up at night. This is the only aspect of her syndrome I can directly impact as a parent, and it is overwhelming and exhausting thinking about what my child is eating every second of the day.

What about exercise? Along with healthier eating, this is something else we are taking on as a family. We talk a lot about “moving our bodies to be healthy”. Lorenzo and I try hard to show both girls that exercise isn’t 30 minutes on a treadmill, but is just a normal part of our daily lives. Eloise has low muscle tone, and gets tired very easily. She does not like to be active. It is a common lament I hear among parents of BBS children. I have Eloise in swimming lessons because I think this could be a great activity she can participate in even with low vision or at a higher body weight. She doesn’t love swimming, but she is coming around to liking it more.

What developmental and learning delays does she have? This is still an area we are navigating. Eloise was behind in many of her milestones, but she seems to reach them eventually. Her speech was delayed, but is progressing well after a year of  speech therapy at her early-intervention preschool program. She also has behavioral delays and often has “melt-downs” or “tantrums” over seemingly small occurrences. These most commonly happen when a task is new, difficult, or challenging for her. Eloise had a wonderful preschool teacher and aids who worked with her on coping mechanisms, and we are hopeful that she will learn to more effectively utilize them as she gets older. As I mentioned earlier, Eloise also has some sensory issues. She doesn’t like to eat things that are sticky, hard, difficult to chew, or that catch in her throat.

Does Eloise have Autism?  Not that we are aware of. Some individuals with BBS are diagnosed with Autism. The symptoms have a lot of overlap, and some people have both BBS and Autism. Since BBS is rare, it also happens that children are misdiagnosed with Autism before the onset of other key BBS symptoms occur.

Miscellaneous

Didn’t Eloise have an extra toe when she was born? Yes. We did not know she had an extra toe until a doctor came in and asked me about 8 hours after she was born, “have you taken a good look at your baby?” I will never forget that moment, or the night that followed. I was a mess. Lorenzo had been back in the US only 24 hours, and he had gone home to take care of Morgan. I told the doctor, “well obviously not if you’re asking me this.” That is when he told me she had an extra toe. I felt like everyone already knew but me—they saw when they took the initial footprints. I imagined them all standing outside my room saying, “how could she have not seen that?” and debating, “no you go tell her”. I was inconsolable.  Everyone told me it was fine. She’d get it removed. It happened all the time. I stayed up all night googling “extra toes and syndromes”. I came across some REALLY scary ones. I cried and cried alone in my hospital room. I kept pushing the pediatrician to tell me what the extra toe meant, and he kept assuring me it was probably nothing, but all we could do was take a “wait and see” approach. I HATED that idea. I wanted answers. Eloise had the toe removed when she was 5 months old, and I rarely thought about it much after that.

How did you find out she had BBS? When Eloise had just turned 3 her tooth fell out one night while brushing. When I took her to the dentist, she told me that all of Eloise’s dental roots were short. I went home and googled “short dental roots and extra toe”. I scrolled through a sea of purple links I’d opened the night she was born, and discovered dental abnormalities were a less common symptom of BBS. After reading through some of the other symptoms, I knew. I contacted a geneticist at the Naval Hospital San Diego, but in my mind, I was already sure. After 6 months of specialists and testing, we finally got back the blood results that concluded she had BBS and Lorenzo and I were both carriers. 

How do you pronounce that? (bahr'dā bē'dĕl). Or in easier terms (in my opinion) Bahr-day Bee-dell.

Are you going to start blogging again? No, this was just the most efficient way I could find  to deliver this content. I left the old posts up about her surgery since it was related. I wrote both of those blog posts before we knew about her BBS. 

Update on Baby E

I think I am going to end up jumping back and forth between past stories and life right now--I guess it just depends on my mood and what I have to say! This has been a pretty crazy weekend, so I will re-cap.

Friday morning I went in to get my wisdom teeth pulled. I have been needing to do this for some time, and it just happened that the only time it worked out was days after baby E's surgery. Things went really well, and I was back home recovering before I knew it. My husband took over all of the kiddo duties, and I was able to get a great nap in.

Little E's foot dressing was able to come off Friday morning, so before we left we for my surgery, Lorenzo re-wrapped it to protect her toe from being hit. Little did we know the chaos that would ensue! Saturday morning we took our gauze off her foot, only to find this:

What the heck? Her removed toe is underneath the pink band-aid, so we were immediately concerned with the red rash that was forming on the other side of her foot. We called the on-call doctor at the hospital, but they never got back to us; off to the Naval Hospital ER we went.

It turns out that E had an allergic reaction to the adhesive in the medical bandage. We were told just to watch the foot for signs of infection. As I emerged from the ER with E, Lorenzo and Morgan were pacing back and forth in the waiting room, "ugh-oh IPad brokened" I heard M say. We tell her the IPad is "broken" when the battery has died, but it turns out it was really broken. In a fury M had thrown the IPad to the ground because "Bunge,Bunge, Bob" would not play on Netflix due to the lack of wi-fi.

On our way home we stopped and got Mexican food; are there any problems some guac can't solve? I was feeling better, and the kids were calming down. As I walked past the bathroom later that evening, the scale caught the corner of my eye. I figured getting oral surgery would be a good way to help me kick the last few pounds of baby weight--wrong again! Not only had I not lost weight, but I had gained about 8 pounds! Well, that was depressing.

I finally got to bed early for the first night in weeks. Then, at 1 am E woke up screaming. My amazing husband stayed up all night rocking her back to sleep over and over again. This morning when I finally got up, I went to change her out of her PJ's and got a peak at her foot:

The poor girl has been miserable. This blister has been harder for her than the surgical wound it seems. I am nervous it may pop and cause an infection, so we have been very careful. To top things off we are struggling with a diaper rash that I can't seem to kick. Her doctor confirmed it wasn't yeast, but I am paranoid about letting any diaper rash get too bad with her.

So, I slathered her bottom in coconut oil, gave her some Tylenol, and gently put a sock and zip up PJ's on little E and got her ready for bed.  Here is one last picture of her actual surgical area--we go in on Tuesday for her post-op appointment:

Here is to hoping your weekend was less eventful & that the 8 pounds I magically gained will slide off as easily as I packed them on!

Baby E's Big Day

Yesterday was a very big day for our youngest daughter, E. Eight hours after she was born, I was shocked to learn from her pediatrician that she had 11 toes. Now, I know that this really is a minor thing, but that day was such an emotional roller-coaster that the news caused me to have an absolute meltdown. A lot of things ran through my head, including thoughts that this was a sign that she could have something majorly wrong with her developmentally. If this had been the case I know we could have coped, but thankfully she seems to be a normally developing baby so far.

The doctor's advised that we should remove her extra pinky toe when E got a bit older because its placement would cause pain which could potentially effect her walking/running when she got older. I struggled with the thought of my 6-month old baby going under general anesthesia, but I also knew that taking care of the extra toe before she learned to walk would be ideal. A month after she was born we had decided to go forward with the surgery and it was scheduled for February 5th. 

As we drove through the dark marsh on the way to the city to get her pediatric orthopedic surgeon, I started second guessing our parenting decision, "Are we really doing the right thing here?" E was not allowed to eat after midnight, and even though it was only 4 AM, I already feared the moment she awoke and I would have to deny her the bottle she so desperately wanted. 

We made great time to the hospital, with a crazy Starbucks stop at Harris Teeter en route, and before I knew it we were wandering around the hospital looking for the right Elevator. I had taken detailed notes the day before when the nurse called to confirm, but in my nervousness I completely lost all sense of what I had transcribed. At 5:50 AM we finally checked-in. 

They called us back to pre-op at 6, and the moment I had feared all along came to fruition; we were forced to wake E up to get her weight and dress her in the hospital gown. To my surprise the first 30 minutes she was all smiles--perhaps excited to wake up to so much attention! That didn't last forever though, and then they lips started quivering; it was heartbreaking. Daddy came to the rescue and swaddled E up in her fuzzy giraffe blanky, and she fell back asleep until 7:30. 

The last half hour before they brought her to the OR was tough. There were also other people in the pre-op area waiting for surgery. A 3-month old baby boy needing heart surgery,a 12-year old girl getting a umbilical hernia repaired, and another 6-month old baby boy who's procedure I could not overhear (I know, I'm super nosey). I couldn't help but feel like the worst parent ever looking around the room at children who absolutely needed these surgeries, and my baby just having a toe removed--purely cosmetic some might argue. 

E did wonderful, and she has already bounced back and acting normal today. I am sure she misses her beloved jumperoo though :) At the end of the day, I am glad we had the surgery to remove her extra toe. I think that this was a relative easy process for her, and as she gets older it would have been a lot harder on her--especially if her foot was already hurting her beforehand. I know not everybody would agree with the decision, but I guess that comes with the turf of being a parent. I know I may not always have the "right answer", but I think I am like any mom who just wants what is best for my kids.