Wednesday, July 28, 2010

Bardet-Biedl Syndrome

Savannah and Xander Love

Bardet-Biedl Syndrome

Savannah was born on the coldest day of the year, in January 2007. While I was pregnant with her, I had many abnormal ultrasounds. Her kidneys were large and bright. They also kept seeing a dark mass where her uterus was supposed to be. When she was born, we were so happy! She was a perfect 7pounds 10 ounces and 18 inches long baby girl. She had strawberry blond hair, and she was beautiful! When they wrapped her up and handed her to me she looked at me with her bright, big, blue eyes, and I fell in love with her with all of my heart. They took her off to the nursery to be cleaned up and my husband got to go with her. When he finally came back, he told me that Savannah had an extra finger and an extra toe on each hand and foot, I did not believe him, I thought he must have been kidding. I do not think I truly believed him until I saw her. When your first baby is born, you expect everything to be perfect, unfortunately, it was not.

Savannah had some ultrasounds done on her, because the doctors thought the mass might be a cyst. On what was supposed to be the last day at the hospital, we had gotten Savannah dressed in her cute little going home outfit. A nurse came in a said that they were going to run one more test and then we could take her home. One hour later my husband went out to the nursery to see what was going on with Savannah, that is when I got a phone call. A doctor was telling me that my little baby was not going to be able to go home, something was wrong with her. They were going to have a life flight ambulance come take her up to Primary Children s Hospital, and have an exploratory surgery on her. I felt dizzy, like I was not really even there. I was not really hearing her. None of this is real. Just as Court walked back into the room, I hung up the phone and started crying. I tried to calm down and tell Court what had happened. They took Savannah to the nursery until the ambulance came. While she was in the nursery, for over an hour we could not go in and see her. When we got to the hospital, they told us that they were going to rush Savannah into surgery. They showed us where the waiting room was and gave us a minute to say good-bye to our beautiful girl. That day was such a blur, but I will never forget when we kissed her before they took her to surgery. I felt like I was saying goodbye. I kept thinking that this might be the last time I would see my sweet little Savannah alive. As soon as the doors closed behind us, I felt like my whole world collapsed around me. I could not hold it in any longer.

After her surgery, the doctor came in and told us, her uterus was not connected to her vagina. Fluid was building up inside her and had it no way of getting out. They had made an incision at her waist for it to drain into her diaper, and when she was old enough to go under anesthesia for a longer period of time they would reconnect everything. They told us at that moment that Savannah had McKusick-Kaufman syndrome. It is a very rare genetic disorder. Savannah had hydrometrocolpos and polydactyly. They also told us that there was a very small chance that she might have a syndrome called Bardet-beidl syndrome, also a rare genetic disorder, which symptoms include retardation, obesity, and blindness, and that was all I heard. That really scared me. It was so hard to hear all of this. I just wanted to hold my daughter. We were able to spend that night there at the hospital. Court's family came and his brother and brother-in-law gave her a blessing. I don't know what I would do if I didn't have my mother-in-law and sister-in-laws there for help. They have been there for us through everything. It was so hard seeing Savannah hooked up to all of those tubes and her veins kept collapsing and they had to put her IV in her head. One of the hardest things in my life was going home, an hour away without my newborn baby. No words can describe how horrible that feels. Only a mother who has been through it can ever know the pain. It did not even feel like she was truly mine.

Savannah recovered very well from her surgery, but she had gotten jihadist. They had to put her under the lights for a couple of days. We were able to bring her home a week after she was born. It was one of the happiest days of my life! I finally felt like a mother. She was so perfect.

Savannah was such a happy baby! She had bright beautiful blue eyes and her hair kept getting darker and darker red. She was the cutest baby and she was always so happy. Everyone loved her. We could not go anywhere without someone stopping us and telling us how cute she was! Sorry, I just have to brag a little.

When she was six months old, she had surgery to remove her extra fingers and toes. It was a same day surgery. She had so many ear infections that winter, she had to get tubes. They helped her so much. On her first birthday, she had her surgery to reconnect her uterus. I stayed the night with her at the hospital. Every surgery was like the first one. It was like saying goodbye even if it was just a small, standard surgery like the one for her tubes. You feel your heart break every time they take her away. Savannah has yearly checkups with radiology and urology ultrasounds for her kidneys and uterus. Children with BBS can have kidney abnormalities and compilations; and sometimes need a kidney transplant later on in life. Savannah might have to have one more surgery on her uterus when she is older.

Savannah was behind on all of her milestones. She did not crawl until she was one and did not walk until she was 18 months old. She had always been in the 97th percent tile or higher for her weight, and when she started eating solids, I always watched portion sizes and we don’t let her eat much sugar. She will have to struggle with her weight the rest of her life. In the back of my mind I was always so worried that she might have BBS, as she got older she wasn't talking and we put her in a program to help her. She did so well. I kept noticing all these little symptoms of BBS, her weight and her learning delay, and obsessive compulsiveness. She was always so shy and a very stubborn little girl. She did not really play with other kids. She loved to organize things and put them in order by colors. When she did not want to do something, she did not do it. Nobody could make her. We always blamed it on her red hair.

Last year we decided to have another child. I got pregnant right away. We were so happy! A couple months later, we went in for Savannah's third year check up and her doctor was worried about her weight. He thought it might be because of her thyroids, so we had her tested. They were fine. Then he had us see an endocrinologist. She thought, just like me that Savannah was showing symptoms of BBS. We had some blood work done. She had us see an eye doctor, a dietitian and genetics. It was as if someone was finally listening to me, that I was not crazy that I thought something was wrong with my daughter.

When I was 18 weeks along with our second child, I went in for an ultrasound. Court and Savannah came with me. The woman told us it was definitely a boy. Court was so excited. Then she saw that he had an extra finger and his kidneys were bright and odd shaped. I cried all the way home. I felt horrible about that I could never have a normal pregnancy, or give birth to a perfectly healthy baby. I also felt like it was my fault that Savannah and this baby inside of me had the syndrome and that they were going to have to go through everything because of me. The syndrome is genetic and we have a 25% chance with every child that they will have the syndrome and a 25% chance that they will be a carrier. I went to a specialist and he found the same things and something else. The baby had a small hole in his heart causing a slightly over righted aorta. The doctor had me go see a cardiologist. Then, at another appointment, they also found a small mass in the right ventricle, which might be a tumor. It seemed like with every ultrasound they found something else. Meanwhile Savannah was having ear infections again. She ended up having her tonsils and adenoids removed and tubes put back in.Then we finally got in to see the genetics. I was eight months pregnant. They also thought that Savannah had BBS, but we had to do an ERG to be sure.

Me and my husband had been working on going to the temple. We love our ward and I love my calling in the young women’s. It is so much fun being with the girls, and I feel very honored to teach them. I hope that I can be a good example to them. They are all very wonderful girls! I have made friends with some of the kindest and caring, genuine people that I have ever met. In January of 2010, we were sealed in the Timpanogas Temple to each other and our children for time and all eternity. I will never forget kneeling at the altar with my husband and my daughter, Savannah, with our family and closest friends surrounding us. That is one of my most precious memories.

On April 24th one of my friends and I were having a baby shower for a very good friend of mine. I was so excited about it. I had been planning it for weeks! The shower was great! Afterwards I went to pick up Savannah at my mother in laws and we decided to go to the women’s expo with my sister-in-law. We walked around the booths and Savannah, being Savannah was tired and kept throwing fits and running away, so I kept picking her up and holding her. When I got home, I unpacked the car and put on a movie for Savannah. The house was a mess and I had to do laundry. I started to make a phone call when my water broke. I was so freaked out. I did not have my hospital and Savannahs bag packed. I was supposed to have one more week until my induction, and I still had not cleaned my house, oh and Court had gone with a friend up to Cabalas. I franticly called court crying. He had just gotten off the freeway. I then called my friend next door. She came over, went down my list for Savannahs and my bags, and packed them, while I was grabbing towel after towel and I even changed my pants. What was I thinking? I soaked my next pair too. I could not think straight. I had not even had time to think about what I was about to do. I could not give birth. That was not going to happen. Nevertheless, it was and there was nothing to stop it from happening. I was barely full term at 37.5 weeks. I was only in labor for five hours! We named him Xander. It happened so fast, they had a NICU team in the room ready to look at him to make sure he was ok. I held him for not very long and then I gave him to my husband. He noticed his feet and hands were purple. He showed the nurse and they took him away. Court went with them. Later that morning I found out that he was not breathing right and he was not getting enough oxygen. His heart was also working harder than they would have liked it to. He was taken to the NICU and was put on Cpap. He had a few echoes done and they found three small masses and a different small hole in his heart. The first hole that they had seen in my ultrasounds had closed. It was like going through Savannah's birth all over again, but easier in some ways and harder in others. We found out that he had pneumonia when he was born. Every day that I had to leave him at the hospital tore me apart more and more. Savannah did not even know she had a baby brother, who she had never seen. It seemed as though I was pregnant and then I was not. I had no baby to hold in my empty arms, no baby to rock to sleep at night. I kept waiting for them to call me in the middle of the night to tell me that he had passed away. Meanwhile I had to breast pump. For the first week, they did not feed him my milk. I got blisters, was bleeding, and had gotten mastitis. The lactation in the NICU told me that it was the worst she had ever seen. It was agony every time I pumped, but I felt like if I did not I would be a horrible mom. When they thought Xander was able to nurse I toughed it out. It was a very long process of going back and forth from the hospital for feedings. When I was with Xander I was worried about Savannah feeling neglected wondering where I was, and when I went home I couldn’t stop worrying about my baby that didn’t have his mother to hold him when he was crying. I could not bear the thought of going to church and seeing all of the mothers with their babies or even pregnant women. It would just be a reminder that I did not have mine with me. It was a long two weeks, but he finally came home. It was mother’s day! He was on oxygen and a heart motor, but we were just so glad to have him home.

A few weeks later Savannah had her ERG, which confirmed that she has Bardet-Biedl Syndrome. In my heart I felt like I always knew, but it was so hard to hear the geneticists tell me, to hear it out loud. It made it more real somehow, but not. As soon as I hung up the phone, I started crying as it all hit me all at once. My mom was there with me when I got the call, she hugged me and cried with me as she told me that everything was going to be ok, and Savannah is very strong and we will get through this. Savannah is my perfect little girl. She has been through so much more than most people go through their entire lives and she is only three. Then, I realized that this was only the beginning of her trials that she will have to face because of her syndrome. She is so brave and strong-minded. I am extremely proud of her. This is just the start to Savannah and Xander’s countless doctors’ visits, and endless worrying about obesity, blindness, kidney problems, learning and emotional issues, and Xander’s heart problems. Children with BBS usually first have night blindness, and then become legally blind between the ages of 9 and 15. They have tunnel vision, and then become fully blind. It's called Retinitis pigmentosa (RP)which causes retinal degeneration.

Savannah is going to a preschool for children with special needs and it has helped her so much! She loves it! We worry that Savannah has been showing signs of being autistic. She does not look at us when we try to talk to her and she has huge temptramtrums or outburst, that are very hard to control and it is hard to take her places. She likes to play by herself. She has a hard time with her emotions. She is very obsessive compulsive, and most of the time doesn’t even acknowledge that Xander is even there. Other people have noticed it also. Autistic like behavior is a symptom of BBS. There are so many parts of the body that BBS affects. Not every child with BBS will have every symptom and the extremity varies for every person. I worry about Savannah and Xander so much and I am afraid of what is to come and there is nothing that I can do to prevent it, but I know that as long as I have them and my wonderful husband we can get through anything. We just have to put our trust in the lord. I know that this trial will make me a stronger person and bring me closer to him. I do not know why Heavenly Father has given us such a hard trial but I feel blessed and honored that he has trusted us to take care of these perfect little children. It has brought us closer together, as we go through the hardest trials that we have ever faced. Court has been there for me through it all and seen me on my worst days. Sometimes I feel like it’s never going to end and then he holds me, and kisses me as I cried into his arms, and asks me what he could to make it better. He is my strength and my best friend. He is there for me at the end of the day. I love him with all of my heart.

Savannah loves playing outside and she likes to watch Barbie and princess movies, and dress up like a princess. She is our little princess! Her favorite color is yellow, and she loves to dance and listen to music. She is a very loving and kind little girl. Xander is growing well and is 11 weeks old. We have just been starting all of his doctor's visits, and he is doing well. He holds his head up and looks around. He is very strong. He coo's and smiles! He is such a cute little boy, with eleven figures and eleven toes.

We love our two children with all of our hearts and we have wonderful family and friends who love and support them and us. We are very blessed. Each time I see my children smile they brighten up my world. Every goodnight kiss and hug Savannah gives me it reminds me how lucky I am to be her mom. I have realized that I love my children even more because they are not perfect. It is what makes them unique and so precious to me. I cannot wait to watch my children grow up and do anything they want to, and not let anything stand in their way. I want them to live happy full lives, and experience love and friendship. I want them to know that they can achieve any goals that they set their minds to and overcome any obstacles they face and we will be right behind them cheering them on! This is far from the end of Savannah and Xander's story, it is just the beginning.


  1. I first have to say that I am impressed with your ability to express your emotions in words. You are a great writer!

    You have told me a lot of what you have written in this post- you haven't said much about the emotions and heartache that you have experienced. What sweet little angels you have the privlage to be the mother of. You are amazing and you are so lucky to have a great husband at your side.

    I am so glad you love YW and it makes me happy that you have found a friend in me and some of the other leaders.

  2. Nicole,
    I'm so glad you posted about your blog on Facebook. I would love to sit down and talk with you. I know I'm not going through the exact same trials you are, but I know what you are feeling and how scary things are. I know Savannah and Xander are special spirits just like our Brayden. You and Courtney have been entrusted with their care. Heavenly Father loves you and will strengthen you through the hard times. PLEASE let us know what we can do for you. Earl loves teaching Primary with Courtney. And I feel so humbled by the service you performed for us with the Beehives. You are an amazing mom and member of our ward. I can't wait to get to know you better.

  3. Nicole, motherhood is really the most blessed calling. I am so happy that you have such beautiful children and a wonderful husband. I've always admired your strength. Remember heavenly father is there for you as well.

  4. You are such an amazing mother! I want you to know that I've always looked up to you throughout YW. I don't know if I've made a bit of difference in your life, but you have in mine. You are an amazing example to me and others. I know I'm only 13, but I'm always here to give smiles and hugs when you need them. :)

  5. I too have Bardet-Beiedl Syndrome though I didn't find out I had it until after I turned 21 even though I showed having syptoms since after I was born and growing up. I can tell you this it's not easy for me every day living with this but the best thing I do is not to let it get me down an just keep on going living my life the best way I know how, and take one day at a time.

  6. You are not alone...I was 7 weeks pregnant with my second child when they finally realized my first child had BBS. At the 12 week u/s I asked them to try and count the toes...ta-da!!! So I know EXACTLY what you are going through!!!

    Please feel free to contact me!


  7. I am 18 weeks pregnant and just found out as well that my baby boy has 12 toes and 12 fingers. I can totally relate to what you are going through. My daughter that is now 13 months has Bardet-Biedl Syndrome and so will my unborn son. I want to thank you for posting your story. I now know I am not alone.

  8. My daughter Isabella was diagnosed with BBS since the age of 3 mos old. We have since had 3 other children who are all symptom free. I am now expecting my 5th child and am going for my 20 week ultrasound in the next week or so. I must say I am very nervous. Isabella and my husband and I have gone through quite alot throughout the past 12 years of our life and I know that it will be quite a long journey. I am doubtful that she will ever be independent. Although our reality has not been easy and will continue to be a challenge, I can not imagine our life without her. Isabella shows signs of Autism/Asperger's however, she is the most loving and innocent little girl(young lady) who would is so happy just to be loved. That is our primary calling.

  9. I love that I found this article because my son was told to have ARPKD but now they believe it was BBS. My son sadly passed at birth because of his genetic disorder but it is nice to become informed on the syndrome because of any further pregnancies I may have. It has only been 5 months since my Jameson has passed but I know he is doing well. You're children are beautiful and you are one strong mommy....I admire your strength. Thank you!

  10. I am the mother of two adult children with BBS and they are both blessings in their own way. Danielle has been on dialysis since she was 16 years old (eleven years now) and graduated from college with assistance for her vision problems (4.0 grade point average).. She uses her limited vision very well and has trouble with OCD and Asperger's syndrome. Her brother, Norman is lower functioning but is extremely happy and very entertaining. He does not have her kidney issues but his autism limits his ability to utilize his remaining vision as effectively. He is able to read (hyperlexic since age two), add, subtract and work anything electronic better than I can. I remember how we felt and what a struggle it was when they were little and we were unsure of how they would adapt to their differences. There was a lot less known about BBS when our kids were born. Their unaffected brother will be a big help to them in the future. I believe that being as strong and loving as you are, your children will be just fine.