Nothing can really prepare you to get a phone call from the geneticist telling you that your child has a really rare syndrome that will change her life, and that of your family’s forever…even if you and your husband already knew it in your hearts.
And as much as we kind of knew it was coming, I do wish the geneticist would have at least told me to sit down, or find a quiet place…I mean, she MUST have been able to hear the chaos going on around me on a Friday afternoon when my house was filled with the whole neighborhood.
I’ll never quite forget standing there folding laundry trying to squelch the tears that were burning to come out amidst my kids and their friends asking intermittently for a snack, help with their roller blades, wanting a drink, etc. I know kids have an automatic button that tells them they need to start talking to an adult the second she gets on the phone and not give up (at least mine do), and usually I can multi-task. But not that Friday. Not while I felt like my whole world was suddenly swimming around me.
Lucy has a syndrome called “Bardet-Biedl.” It’s extremely rare, and we are just coming to grips with the fact that we can’t go in and sit down with the geneticist and get a concrete run-down of all the things that will change in life. It’s different for every child. But most of the children diagnosed have health problems, are overweight all their lives, and the most heartbreaking thing for us is that the majority of these kids lose their vision. Most of them become legally blind by the time they are teenagers, sometimes as early as age eight or nine.
The geneticist has brought up a few different possibilities for various syndromes since we met with her for the first time over a year ago. Each one she mentioned before I mentally checked it off my list right after I heard the symptoms. I knew Lucy didn’t’ have them. But when she mentioned this Bardet-Biedl Syndrome right before Christmas Dave looked it up and started to worry. Symptoms include slower learning, weight issues, and extra digits (Lucy had an extra toe when she was born).
I never looked it up. I felt that the more I pushed it away, the more likely it would be that it would just disappear. I didn’t want to know the symptoms. I didn’t want to start to worry. To me it felt like it just couldn’t happen to Lucy if we didn’t know anything about it.
But Dave knew we definitely needed to test her for it. He had a bad feeling about it right from the start. And as much as I tried to bounce that bad feeling off of me, it gradually seeped in, little by little.
So we took her in for yet another blood test right after Christmas. Just a precaution. Just to quiet our fears. The way I played it out in my mind was that it would come back negative and I could go back to my own diagnosis I had made: Lucy was just a little bit slower than our other kids. She’d catch up eventually as long as we all work with her and keep going with her therapists. All would be well.
But gradually I started to realize this syndrome was a big possibility.
One early morning Dave came back into our room completely ashen-faced after he had checked on Lucy who had been crying. The sun still wasn’t up and it was still pretty dim in Lucy’s room. He claimed she couldn’t see him. (Night vision is the first thing to go with Bardet-Biedl.) I rolled over and told him he was just too worried about the whole thing…he must be reading into things. Lucy is just too stubborn. She just didn’t want to look at him.
But two weeks later on another early morning the same thing happened to me. The exact same thing. And the worry started seeping deeper. By that afternoon, though, I was telling myself the same thing I told Dave. Lucy’s just so stubborn. She just didn’t want to look at me. She must have just been tired. Surely she was just in a funny mood.
The next week we were at Dave’s brother’s house. We were gathering the kids to head home that night and when I came out Dave and Max were talking to Lu in the shadow of our car. When I got closer Max told me Lucy couldn’t see. I smiled and told him sure she could. But I knew he was right as soon as I looked at her. She was looking through us. She looked just like a blind person. She reached to show us where our noses were when we asked but she missed…by a long shot. Her eyes were just as beautiful as ever…but they couldn’t see us. They couldn’t see a thing.
The ride home was slow motion. It was like Dave and I were sitting in a bubble in the front seat. We didn’t talk…just sat with tears in our eyes thinking what this meant. It was like the commotion and noise of all the kids in the back turned swirly and far away…and completely muted as we sat thinking about Lu.
So, Lucy fit into what this syndrome outlined. Now we just had to wait for the geneticist to tell us what we already knew.
Though we don’t know so much of what we will eventually learn about this syndrome, we do know with all our hearts that we adore this child. Each of us in our family could absolutely eat her up. She is so endearing and her smile melts our hearts every time she throws it at us…which is a lot. And we’re so grateful for that. We’re so grateful that although she may learn things a little slowly, she’ll still have her mental capacities. We’re so grateful she can walk and she can breathe easily and she can throw out hugs and kisses like nobody’s business. We are so thankful that only one in five of our kids has to deal with this (apparently each of them had a 30% chance to have this syndrome with us as their parents). Although this has hit us hard, we know it could be something so much worse, and we are so thankful.
I’m writing all this on this blog because so many have asked. I feel like we almost have a little built in “Lucy Fan Club” that melts my heart. It’s taken us a little while to get our heads wrapped around this and to be ready to share it, but Dave and I are convinced that the more people we have rooting for her the better she’ll do. I want to thank everyone who has been so concerned about her and about us…all the prayers and thoughts on our behalf. Someone wrote a little bit ago that they wanted to have their own “I Love Lucy” t-shirt. I can’t stop thinking about how sweet that was.
And I think the more info. we share about such a rare thing the more info. we may be able to gain through anyone out there with any extra information about it.
Dave and I are determined to become experts on Bardet-Biedl and to learn everything we possibly can and to help Lucy progress in every way she can. I have loved watching Dave come home each night and work with her on various things. I have loved watching the kids work with her, hearing them pray for her (their bowed heads sometimes coming up with teary eyes), listening to them talk about her.
One thing’s for sure: we couldn’t be more thankful to have this little girl in our family. We feel like we have been blessed and prepared each step of the way. And we feel like she makes our family whole in so many ways.
Ohhh, Shawni. I have tears streaming down my face. I am a proud member of the Lucy Fan Club and although I'm not a charter member, I have been one since I found your blog over a year ago.
I am praying for you & Dave, for your family, and for sweet, adorable Lucy.
Blogland is here to prop you up and help you along your journey and I am here anytime for anything.
Sending much love & prayers.
I have been wondering if/when you had heard something from your doctors.
I’m so sorry the diagnosis wasn’t what you had hoped. I know things are hard now, I bet as you learn more things will be easier. Sometimes the worst is all the unknown.
A family in DC is praying for you.
My favorite line of the whole post is when you say you’ve been prepared each step of the way. I only know you from your blog, but I think there aren’t many more attentive positive committed amazing mothers anywhere than you, Shawni. I know that Heavenly Father prepares each of us for experiences in our lives, and I know that this time is no different.
Your family will be in my prayers, especially sweet sweet Lucy!
I love you guys. Lucy is so beautiful. I’m so glad to be a member of the LFC too. Hope to see you all again soon.
She really is just the cutest thing ever! She just looks so kissable!
What a painful trial to bear. I can’t help thinking about my babies… what an emotional time for your family.
I pray the Lord will strengthen you and your family.
Although I only “know” you through your blog, I have always been amazed at your spin on motherhood. I can tell you eat it up. Every bit of it.
I love that you cherish every moment with your children… enjoying the good and laughing away the yucky times. You are such an inspiration!
So during these dark days, please know you and your sweet family are being lifted in prayer.
I don’t even know you and this post had me crying. What a beautiful family you have. Even though it will be a challenge, you will also find Lu’s condition such a blessing in the long run. I’ve admired you via your blog for a LONG TIME and think the world of you. xoxo Prayers, kisses and blessings,
Oh, Shawni. I’m sorry.
My first thought as I read this was how lucky Lucy is to have you as her mother. I don’t think she could have a better champion for her. You will figure this out and I bet in the end come out ahead.
She may lose her vision, but she won’t lose her spirit! And I think that takes you a lot farther than a pair of eyes.
You are in my prayers. And little Lu, too.
I have been praying for The Pothier's & sweet, sweet adorable Lucy! I wish I could take the pain, you must feel away. I am so sorry the news is not what you had hoped for.
Lucy is a special girl with an amazing spirit. She will bless your family in so many ways. How lucky she is to have you as her mother – you are amazing & inspire me in so many ways.
How fortunate we are to have the knowledge of the Gospel & to know there is a plan & we agreed to it.
The Simas' will all want "I LOVE LUCY" shirts -(love the idea) We will always be "Lucy" fans
We will keep you in our prayers… we love you Shawni! XOXO
oh sweet love i am so sorry for this bit of heartbreak. i think most of us think, “it could never happen to us”.
this is such a shocking thing and i love that you feel that you have been prepared in a way. i think that as parents we get those whisperings. heavenly father is so wise and kind. lucy was placed with such a special family. your children are the best most loving siblings she could have asked for. i know those kids of yours will be a huge support to you and dave…you are all amazing and you will be in my prayers.
Shawni..I am so sorry, I just cried and cried when I ready your entry. Now you can move on and do all you can at help her and do the best she can.
Whenever I hear discouraging news about the health of my childlren, I am always reassured by a comment that a dear freind said to me years ago “You agreed to this/these trails in heaven before you came down and you wholeheartedly agreed to the Savior by saying “YES! I will do that and I can handle that trail” Your life was laid out in front of you before and you said no problem..yes I will and can do that with His help. When I found out that Ellek and Klein were both going to have major kidney problems, I felt sorry for myself and mad of why did I have to go through this 2 times? Again, I was reassured that it was something I agreed on before hand and I became their champion mom and learned all I could about their kidney problems. Looking back, it has shaped me and made me a better person for going through those trails. You too will grown and become a better person because of this trial.
You are a fighter and Heavenly Father and Jesus knew YOU and Dave would be the very best parents to help Lucy. In my minds, I call her LUCKY LU! What at great family she has to help her through this. Lu will be the Helen Keller of our time! Our prayers and thoughts are with you. Hugs-
Oh Shawni, I am so sorry that news isn’t what you wanted to hear from the genecist. But I am so glad that Lucy has an amazing family to love her and guide her through this life.
We have all fallen in love with her with the beautiful pictures you have taken and the funny stories you write about her.
I have never met her and yet I want to just reach out and snuggle her. But I do know you and the kind of person you are and all the amazing qualities you have. She came to you for a reason. And just like you said you have been prepared along the way.
I will keep you, Lucy and your family in my thoughts and prayers.
Maybe now at least knowing what it is will take away the stress of the unknown.
Thinking of you!
I only know you thru your blog and I took one of your parenting classes that you gave with your Mom. I do know that you will be able to do this. Lucy is lucky to have you as her Mom. You have been training for this all your life. I have read one of your parents books and can tell that the training started early! I was sitting in Sacrament meeting Sunday and saw your kids just loving on Lucy, she is one lucky girl to have such a great team behind her! Your family is in our prayers. (you were visiting our ward for ward conf.)
I only know you through your blog, and several of my cousins follow you. We are from Utah and appreciate members with testimonies like yours. You inspire me! Lucy is blessed and by far more valiant than many. I love your humility, hang in there and don’t let the advesary bring you down. Hard but real. I KNOW YOU and your family can do this!!
So sorry to hear this. My heart is breaking for you. I actually read about this when I was trying to diagnose Tate as he was also born with extra digits and had other issues. He did not end up having this disease but I read several encouraging articles about very successful renal transplants for kids with this disorder. I know you and Dave have also done lots of research but what I have learned is that miracles work when medicine can’t sometimes. It is always in the Lord’s hand. There is always hope. Your family is amazing. She is so lucky to have you all.
Shawni, thank you for bravely sharing Lucy’s diagnosis with us. You are an inspiration to me and Lucy is lucky to have you and Dave and all her amazing sisters and brother. What a special little girl you have – and the way she blesses your family is evident in almost every single blog entry you write. Prayers and hugs for all of you. We have had a few trials in our family and extended family and it is always so hard to understand why the Lord is “blessing” you with a trial but we chose this life, we knew it would be hard, and trials are part of the gig.
What a beautiful girl. What an amazing strong family. I wish you so much good will as you research and pound the pavement learning and sharing and discovering everything you can about Lucy and this condition.
Oh Lucy, you are such a lucky girl to have such an amazing family that cares so much about you!
You are an amazing mother to all of your children and while there are many things in life that are unchangeable, i can’t help but think Lucy’s order of appearance in your family (the caboose)surely will give her the strength she needs to overcome the challenges that life sometimes tosses us. Those older siblings make great cheerleaders!
Oh Lu Lu! Although I am heart-broken for you guys and Lucy, I am certain that if anyone can handle a trial like this it is people like you! You guys are amazing and have always inspired me! Our prayers and hearts are with you guys! LOVE YOU!
Ohh Shawni, hang in there sweetie. That post has left me in tears, but I tell ya…I couldn’t hand pick a better mother to have Lu. It is more than obvious the overwhelming love you and your whole family have for that little girl and I have no doubt that she will be so blessed by all of you and that the Lord will be there for you each day, every step of the way. You are in my thoughts and prayers. Sure love you guys.
Shawni, I am so glad you posted this. I have been worried for Lucy since I read (a long time ago) that you were struggling to find out what was going on with her cute little body.
I couldn't be more happy that you finally have a diagnosis. I couldn't be more happy that it is YOU & DAVE that get to help raise this little one. I couldn't be more happy that you are strong, responsible, Christ following people who will help not only Lucy but the world to understand this Syndrome a bit better. and yet, yes I ache for you.
With Garrett, I feel it's such a blessing for our other children to have him here. To help them to be a little more compassionate, a little more understanding and patient. What a great great blessing this will be for you and your children. May you know that I, and many others obviously, care and are behind Lucy 100%! Take care and, expecially in the tough times, remember to keep Christ in the picture, he knows better than any of us.
God is good, Shawni, and His glory will shine through this. He created this perfect angel and gave her to the most perfect parents. Thank you for sharing this personal story with us so that we may all lift you up in the days ahead.
Love from Oregon.
I think you and Dave are such amazing parents with truly amazing children. ALL of them. Prayers from NC coming your way — Lucy is just yummy. This is not what you thought her life would be like, I am sure, but I know you are the right woman for the job! Thanks for being so willing to share . . .
There are no words, no good attitude, no faith that can stop that initial punch in gut that you feel when you find out that your child has a severe disability or illness. But you, have faith and optimism in large supply in your household. It will carry you through and help you to find the beauty in this situation.
Although my heart is breaking for you…I can’t wait to snuggle up that little thing in a few minutes. I’m so glad she will be here today in my home and I can have a chance to enjoy all that IS LUCY!!!
I love you so much Shawni and you have always been such an example to me. Once again, I am in awe of you and all you do. Your family is blessed. Lucy is a special part of your family and you will be and already are better for it. I love you.
What a beautiful entry. You are so good at putting words to your thoughts and feelings. I now know why you and your family have been in mind so much lately.
The tears were just flowing as I was reading your post. I am so sorry! The prayers will continue to come your way. I will put Lucy’s name in the temple tomorrow when I go.
Remember…you will not be given anything that you can not burden or handle. You are amazing and Lucy is so lucky to have you as a mom. Use your support system when you have those days.
Lucy is a special girl. One of those very treasured spirits. I remember holding her as a newborn. She is precious. Shawni, you are an amazing mom!
Love you Shawni. Love your family. Brandy
My throat is on fire, trying not to cry for you and your darling family. Although I have not met you and your sweet Lucy, I think about you and your trials often. Every time I see Janae, I ask if there is any word on Lucy yet. I’m grateful that you at least have an answer to your questions. Unfortunately, not a great answer. You seem like a wonderful mother, and those kids are so lucky to have you as their mother. Isn’t it so comforting to know that there IS a plan. Not quite OUR plan at times, but you have been very inspiring to me, and make me want to be a better wife, mother, friend. I hope you will find more answers about Lu’s diagnosis. And if someone ever comes out with an “I Love Lucy” shirt, count me in. What a doll face.
Much Love, Leigh
Shawni I must say I love that little one of yours as well. She is so adorably cute! She is so lucky to have such amazing parents and such a great family that will be right behind her every step of the way, as well as everyone else that knows and loves her! (and you of course!!)She’ll be in my prayers. Love you! xoxoxo
What a beautiful post about such a special little lady. Lucy has one of the warmest most enduring face,just precious.. And I couldn’t agree more with what everyone else has already commented on. You are so inspiring, it amazes me. This is why I love comming to your blog, you make me always want to be and do better. You are the one and only mother for her, she is so blessed to have her own personal angel as her mommy. I wish you and your family nothing but the best, and all of our prayers..
Shawni, I had been wondering if you got the results back yet. Lucy and your family have been in my thoughts alot since you posted about the testing you were waiting on. I am so sorry that it was not the results you were wanting. I don’t really know what to say to help give comfort to you, but just remember that you are surrounded by people who would love to help and support you in any way needed, myself included. I have always been so impressed with your family, and I couldn’t think of a better family to help Lucy through the challenges in her life. Sometimes we are given situations that seem impossible to get through, but those same situations can sometimes result in our biggest blessings. Your family will be in our prayers.
My thoughts and prayers are with you guys and little Lucy. What a sweetheart! I know that miracles can happen, even when they are small steady ones. HUGS!
Shawni: I have been checking back waiting to hear. I knew you were right the day I talked to you! I also know the lord has prepared you and your family for this moment. You are such an amazing mother and I am sure she will thrive because of that. I am so glad you entered blogland so I could know you and pray for you! Sometimes knowing can be easier… I would love to hear the physiological process of the eyes when you get a chance.
I always try to keep updated on cute Lucy!! Sometimes I think the hardest answers are those that are unknown so what a blessing to finally have an answer, even if it was one you weren’t quite hoping for.
She truly is a special spirit from above and her smile can light up an entire room. She is like a ball of sunshine! How lucky you both are to have each other.
Thank you for sharing your thoughts with us. You continue to inspire me! Thinking of you!
What a beautiful post about the feelings and worries of a loving mother. You are such an inspiration and I know the Lord will bless all of you through this time of many questions. She is such a sweet little girl with a mission just like all of us. Prayers are with you!
First off, I love your blog, but I think this may only be the second time I’ve posted. You do such a good job summing up all the different sides of parenting.
I know it must have been so hard to suspect about Lucy’s condition, then to hear it confirmed, then to actually write that post. I’m glad you did though. Lucy most certainly deserves a fan club. That face – even when it’s unhappy – could not be any more adorable. Lucy and your family will definitely be in my prayers. She is so blessed to have all of you supporting her.
I know that knowing what it is is scary, but I’m grateful that at least you do know. Know that we’re here for ya, and we love Lucy too!
Oh Shawni- I know it is so great and terrible to finally have an answer. Lucy will stay in our thoughts and prayers. She couldn’t have asked for more dedicated parents or understanding siblings. Love and hugs to you!
We just love little Lu. She couldn’t have a better Mom, or a better family for that matter. We have been thinking and praying for you all.
thank you thank you thank you for letting us be part of your life!
without your opening up, we couldn’t pray for you, your family, and especially lucy! thank you for that!
she is so precious!
Lucy is SO lucky to have YOU for her mom! I love how strong you are and are able to look at the positive – that it could be so much worse. Lucy has a big brother who will always protect and love her, and sisters that will be there to support her. She couldn’t have chosen a better family.
I want an I Love Lucy shirt…seriously.
SHawni…My heart goes out to you and Dave. I sure have grown to LOVE LOVE LOVE Lucy through your blog. We all feel like we know her.
Your family will be in our prayers.I am glad you are sharing this information because all of us can try and help anyway we can with information and more importantly Prayers.
How is it that through blogging you can just love a family so much especially a little Girl name Lucy???
Sending Love…prayers…and maybe an I Love Lucy shirt 🙂
Take Care and know that you have so many friends that are thinking about you and your family.
I’m not sure if I’ve commented before, but I must comment now! (I was introduced to your blog by maryclaire parker and am in chris/sam pothier’s ward).
anyway, I just wanted to say that it’s a priviledge to read your blog. Though I don’t know you, you are a great example to me of a strong, humble, loving woman. I love hearing of your motherhood ups and downs. it’s such a rollercoaster sometimes! it’s easy to see how much your love your lucy. I will be praying for her as well.
I gave this quote to a good friend today who is in the hospital with her two year old.
you may have heard it…
“No pain that we suffer, no trial that we experience is wasted. It ministers to the development of such qualities as patience, faith, fortitude and humility. All that we suffer and all that we endure, especially when we endure it patiently, builds up our characters, purifies our hearts, expands our souls, and makes us more tender and charitable, more worthy to be called the children of God… and it is through sorrow and suffering, toil and tribulation, that we gain the education that we come here to acquire and which will make us more like our Father and Mother in heaven.” -Orson F. Whitney
elizabeth in ca
My heart has been aching for you and sweet little Lucy ever since you told me. I know Lucy was sent to your family for a purpose. She has two amazing parents who love her so incredibly much and will do everything they possibly can for her. I know with your faith and strength you will be guided to deal with this situation and know how to help her. I sure love ya Shawni! I know as hard as it is you will be so blessed for all that you do for her and it will bring your family together. We pray for you daily and are always here if you need a friend in any way!:)
What a precious little girl with an amazing family! Thanks for sharing.
please give her a big hug from me….we are praying that GOd does a miracle and touches her. but even if he doesn’t…she is perfect!! just as He would want her to be, God does not make mistakes… He placed her in a family that has so much love and will help her EVERY step of the way. we will be praying for you as parents and your family.
I’ve never met you but came across your blog a while ago and now I feel like I’m part of your family. I too have tears streaming down my face and can only imagine what you and Dave are going through. I just wanted you to know that my heart, love and prayers go out to you and your amazing family. Heavenly Father knew what he was doing giving her sweet spirit to you and how lucky she is to have such wonderful parents! Thank you for enlightening me on this disease, I look forward to learning along with you and hopefully being able to pass on the knowledge to someone in need someday.
Thanks for being so amazing!
I don’t know what to say but I Love Lucy too. She is such an amazing child so full of sass…how can you not want to eat her up! I am so so sorry Shawni. I don’t know of any two parents in this world better to handle this head on. You guys will move mountains and heck maybe even find a cure or some way to make things better for our Lu. I say this because I have always felt such a connection with her. She really is in my heart. I will help anyway I can. Fundraising, researching…anything. I will even ask my brother (he is a doctor) if he knows anything about it. I am ready to put my shoulder to the wheel and help any way I can. Please let me know.
Ok, is there some place that is researching this condition? Some of my blog friends who read your blog want to kick off an I LOVE LUCY project and the proceeds will got to research or anything that will help with Lu or Bardet-Biedl. Let me know where the need is, us adopt-a-mom bloggers have some great ideas.
I will proudly be the president of the I Love Lucy fan club, because that girl stole my hear the moment I found your blog 8 months ago! She is so blessed to have such an incredibly loving family and wonderful mother. And we are all so blessed that you share all her stories with us, No matter what she is doing in any picture I can’t help but smile when I see her cute face! God bless you all and you will be in my prayers!
You are going to bless her life in countless ways, but probably still not as much as she will bless yours:) As always, you have a beautiful perspective on everything. I bet Heavenly Father was just waiting to send one of his most special spirits down to a mother and father that he knew would be as amazing as you are.
Hi Shawni! I found your blog a while ago, and I have yet to comment…until today. I’m am so sorry to hear this. You have such a sweet family, and I will add little Lucy to my prayers too.
Your little Lucy is so very blessed to have you as her mother. You are a remarkable woman. My prayers are with Lucy, your family, and you.
Shawni, we will definitely keep you in our prayers. I’m so sorry you are having to go through such a difficult trial. The Lord is watching over you – how wonderful that you and your hubby and children are so close to Him, which will bring you peace when you need it.
God bless your family,
Shawni – I can’t handle how hard I cried as I read your sweet and honest feelings about your little one! It just made me think of my own and how we all go through different struggles, but like you said “we signed up for them… happily!”
I have you in our families prayers and I put little Lucy’s name in at the San Diego temple tonight!
This morning through the beauty of your smile I could sense the heaviness of your heart. I had heard about Lucy’s diagnosis and couldn’t begin to comprehend how difficult the news had been for your family. Faced with the challenges of mortal life, Lucy is blessed to have the family she does…and Lucy’s family is blessed to have her. Speaking of blessings…I’m sure blessed to have Grace in my class.
I’ll keep Lucy and your family in my prayers…
You don’t know me but I came across your blog and absolutely love your posts. You are so inspirational. So much so that you inspired me to start my own blog. You are an amazing mom with such wonderful thoughts and ideas. Your photography is beautiful. I feel that I am a better person since I have started reading your blog in that I am slowing down and enjoying life that much more.
I am so sorry to hear about Lucy’s diagnosis. She is such an adorable little girl. It is extremely clear that she is very lucky to have the family she has and you all are to have her. Be her biggest advocate. Follow your feelings with her, as mom always knows best. I will keep Lucy and your family in my prayers.
My daughter (age 8) was diagnosed in kindergarten with an extremely mild form of cerebal palsy. The doctors from age two on told me I was just a worry wort new mom, but my gut was telling me it was more. Finally, we found a MD who would listen and now with PT, OT, speech and a little extra help in school she is at grade level (2nd grade) and amazing us every day. Hang in there.
Thanks for being such an inspiration.
What a heartbreak.
All I can say is Lucy is so lucky to have you and Dave. I think you will discover that she is and will become more of a blessing to your family than you can even imagine.
Best wishes as you navigate this “new normal” for your famiy.
Shawni, I am just a lurker, but I love your blog. My heart goes out to you and your sweet family. Lucy is absolutely beautiful. I am so sorry for your news, but grateful that she has such wonderful parents that care about her and love her so much.
As someone with a son who was diagnosed with a serious genetic condition at age one, I can relate to some of the feelings you expressed. It appears that you have a wonderful circle of supportive family and friends. Don’t hesitate to ask for help on those days that seem too heavy to bear. Your sweet family will be in my prayers. Carey C.
Count the McCanns in the “Lucy Fan Club”. There are no two better parents more equipped to handle this challenge than you and Dave. We love you all. You are in our thoughts and prayers
I can’t stop thinking about you and little Lucy. I don’t know what to say, other than, there sure is a lot of love for you and your family out here in “blog world”. I feel like I’ve known you forever. You continue to inspire me daily.
You are in my prayers.
Your little Lucy is so beautiful, and so blessed to have you and your family to love and support her!I will be praying for you and you sweet Lucy!
sending you prayers. My niece Courtney would be an inspiration for you – she was born with every possible disability….deaf as as well as blind. She wasn’t supposed to live beyond childhood and her parents were told she’d never walk. Today she is a bright 27 year old, working at Starbucks in Seattle, in her own condo (with a caregiver) who not only walks, but has won numerous medals in the Special Olympics – for track! – and was Starbucks employee of the year. That’s a far cry from where you are feeling you are now, but with love, prayers and professional help, anything is possible. God bless you.
That puts such a pain in my hear to hear. I am so sorry. I too have become a fan of Lucy and want you to know she will be in my prayers. She is in a good home for this with all those loving arms to hug her. Keep us posted.
love from Cambridge:)
I am a friend of Melissa and Tom’s. I don’t usually comment on blogs of people I don’t know personally because I just feel what can I say that would have any meaning? Just know that my heart aches for you….I say aches not breaks because I just know that the Lord knows us and that this is part of Lucy’s plan and in the long run will be a blessing. It is so hard to see that now. I will remember you in my prayers.
I read your post last night and fell asleep thinking about your sweet little girl and I don’t even know her. I commented once a while back about your Lucy and how much she reminds me of my 2 year old Kate. Anyway, I too love your blog, but don’t know you personally. I think I got attached to your blog because you and your family seem so perfect, yet so normal and real at the same time. Then again, maybe perfect to me =really good parents and happy kids. There is no mistaking that your little Lucy is happy! You are in our prayers.
I can’t see the screen through my tears right now Shawni!
I can only imagine what your little family is going through…one thing I know is Lucy is one lucky little girl to be soooo loved! She sure is cute and I would love to pick her up and kiss those cheeks!
I am so sorry you have to go through this but already you have opened up so many eyes to something I have never even heard of!
You guys are so in my prayers!!!!!
Thanks so much for sharing such a difficult story. I am a mom in Boston who is a member of the “Lucy fan club”…that is my own daughter’s name, so I am extra-proud to be a member. You have a beautiful family and I love your blog. I’ll be thinking and praying for you. How lucky Lucy is to have a family like yours and how lucky you are to have such a wonderful little girl!
This news breaks my heart. I actually read your post a few days ago, and didn’t comment because I could not figure out exactly what I wanted to say.
Honestly- I’m still not sure. 🙁 But, what I do know is that you inspire me as a mother, as a documenter of my children/life, and a photographer… and I don’t even know you!
So, I imagine if I were Lucy, and had you as my Mother (and Dave as my Dad) I could not pick a better team to help me through this. And your other kids- the icing on the cake. What a wonderful family you are, and support system for one another.
Thinking of you often, and keeping Lucy and your family in our prayers.
Hi it’s Jenny Cannon, Brock Cannon’s wife. Wow! I amazed at how much love and support you and your amazing family have – this says a lot about you guys. I just wanted to say that we love you and are praying for you and little Lucy – she is so adorable and will always be a little angel. Thank you for sharing her story with all of us.
I have tears streaming down my face as well and my heart goes out to your family and the challenges ahead. But, I also feel like nobody is better equipped to see the good in a bad situation and give your heart so fully than you. Thanks for your example. Your in my prayers.
Amazing how geneticists can come-up with syndromes. It’s nice to know they’re all related. I wish you guys the best.
Lucy is a lucky little girl to have a mom like you. I am sorry you’ve had to worry about her so much. I just know Heavenly Father must have known that she needed to be in a family like yours with parents who would do everything they could to help her and make her happy. You are in my prayers!
Thanks for sharing- this is so heartbreaking as a parent, but I am glad that you have the info you need now to progress- She is adorable, and this post makes us all appreciate life a little more.
Hugs from the East coast
Shawni, I am thinking of you and your family as you try and immerse yourselves in any information you can to provide Lucy with the best environment to facilitate her needs. I wanted to reach out to you and let you know that I do have my BA and MA in teaching the blind and visually impaired and rehabilitation for the blind. I have worked with infants through adults. If you have any questions or want to bounce ideas, PLEASE email me. I would be happy to talk anytime! FYI, I bought a necklace from Angie and Isabelle LOVES it. Please take care and you can email me privately if you like: firstname.lastname@example.org
Holy Love from Blogdom!!
It proves what an amazing person you are.
I don't know what to write that hasn't already been written….
but, these things I do know, from going through my own tough times,
is that…. you can handle much more than you ever thought possible…..take things one day at a time…..and I found joy in the fact that the experience & empathy I gained in getting through difficult times would equip me to help others in the future who would go through something similar…..
Hope to see you guys skiing. I'd LOVE to catch up!
Love you guys!!!
I know this is strange, but I have been reading your blog for over a year now, and even though we dont know each other and we live in different states, I’am praying for you and your family. I am also a fan of the “lucy fan club”.
I have not stopped thinking about you and your family since I read your post. I too couldn’t finish reading it very well through the tears. I am sure you will look at life differently from now on, trying to see it from Lucy’s perspective. You are so caring and compassionate, she is so lucky to have you and Dave to lead, guide, and love her in the way that she needs. I know you will be guided, I know you will be lifted up and loved. Your life has inspired so many by your example and by sharing your life with us on your blog. Now it is our turn to lift you and love you. Know that my thought and prayers are with you and your family at this time.
How are you? I haven’t been able to stop thinking about you and how you’re processing all of this.
Love you guys!
DAve and Shawni. This is Aunna Poelman, Jeff Poelmans wife (Keith and linda’s son)! Anyways. I keep tabs on your family through the blog. I am saddened to hear about Lucy’s diagnosis. I want you to know that even though we haven’t talked for years, we are here to support you in thoughts, prayers and fasting and want you to know that we will be fasting for Lucy and your family this coming fast Sunday. Thanks for touching my heart. We send the love across the miles and hope we can see you soon. Love, Jeff, Aunna, Nicole and James Poelman (cousins!)
You don’t know me, and I hope you don’t mind me commenting, but I have come across your blog. You are inspiring and beautiful wife and mother. I waited 7 years to become a mother and reading your stories makes me want to be a better mother and friend.
My thoughts and prayers are with you and your family. I hope in some way all of the love and support you so clearly has is comforting and at some moments you feel peace.
Lucy is beautiful. She and all of your children are lucky to have a mother like you.
I found your blog on Real Angel, Real Life. I hope you don’t mind if I comment. I, too, and raising an “angel” in my home. Not the same diagnosis, but I’m sure it feels very similar. Bless you and your home.
I am one of Kara Kelly’s best friends and I love reading your blog. You are such a sweetheart and so talented. One of my favorite things is to watch for Lucy pictures. I even showed my mom your blog one day and she just adored Lucy and her darling face right away. She is beautiful and she is Heavenly Father’s darling little girl. He will not leave her or you guys – ever. He will help you find a way through this even though right now I’m sure your hearts are breaking and you are anxious. He still has a wonderful plan for Lucy and He will show her the way. Easier said than done but I truly believe that. I have a chromosome disorder but not like Lucy’s. I know how complicated it can be with genetics, DNA, etc… It is crazy! Our bodies are so complex -it truly is a wonder that so many don’t have major problems.
Anyway, I will be thinking about you and praying for cute Lu. She is a doll and her eyes will always be bright and beautiful – and they will still see even if it’s in a different way.
Much love – Ashley Richards
I too have tears streaming dowm my face reading about your sweet Lucy. I had a little flashback of her snuggled against you asleep as a brand new little infant in the front baby carrier at the church Halloween party. My very first glimpse of her…What a sweet little soul!
There is so much I admire about you as a mother and as an individual. She couldn’t have come to better prepared parents to help her rise to the challenges that she faces.
You are in our prayers. Make God bless you with the strength and inspiration to carry on.
TJ and Adelia Brown
That was so beautifully written, as was your latest post, the “thank you note”. Your family and your little Lucy will be in my prayers.
Shawni and Dave,
I’m the father of a 3 year old boy with BBS. Like Dave, my instinct is to learn and fix. So I’ve spent the last 3 years reading everything written on BBS over the last 15 years.
I’d be very happy to share everything I know, as well as our experiences with our son, with you. You can reach me at timothy dot ogden at gmail dot com. I’ll also post this comment on your other entry.
Shawni and Dave-
Lenna told me about little Lu, I knew that she had this but until I read your blog, it hadnt really sunk it! You two are some of the most amazing people I know! I cant imagine how you two survive everyday! I bearly do it with one and you tow do it so gracfully with 5! I cant begin to tell you how much of an example you are to me! I love you and your family so much, and you are in our prayers!
Love, Tony and Nat Carver
I’m a little late reading but want to add my sentiments to everyone else’s. What a cute little girl–and what a special mom you are to her as well.
I sure love your blog.
I wish I would have known on Sunday I would have given little Lucy an even bigger hug in Nursery. She is so precious and I love getting to see her every week and get to know her sweet spirit. You guys truly are an amazing family and the Lord wouldn’t give you something that you won’t be able to handle. I totally understand you wanted to hide from it and not acknowledge that it is true. But know you can stop wondering and move forward with it as best you can. We love you guys, your in our prayers.
I just came across your blog….tears. What a wonderful mom you are, and Lucy is so blessed to have you….and you to have her! prayers for you and your sweet family:)
I love you and your family so much and I’ve never even met you. You are awesome, Shawni. Lucy is the most beautiful, delicious little thing. Reading this gave me tears at 11pm when I should be in bed! I couldn’t stop reading. Good to catch up on things and to hear your perspective on Lucy’s diagnosis. What a trial. But what a beauty she is. Lots of love and support from my family to yours.
Oh my goodness, Shawni!
My heart just aches to hear the news about your dear, sweet Lucy! I write you with tear-stained cheeks and a heavy heart, yet I want you to know that I have such faith in you and your sweet family to triumph over this hurdle that lies before you. Please know that I will keep you all in my prayers.
About 30 years ago, my brother was born with a cataract in his eye. For months my parents were quieted by their pediatrician, who claimed that all babies are virtually blind. But their instincts and the spirit told them differently. One day, my mother couldn’t take it any longer and she drove him over to our friend who is an opthalmologist. Sure enough, her fears were confirmed and in an instant my parents world came crashing down around them when they heard that their baby had a cataract and that he would be blind in one eye for the rest of his life. When they sought for options, everyone–including the specialists at primary children’s in SLC–told them to go home and love that baby. He was blind in one eye and that was that. Looking back, I am so amazed at the courage and tenacity that my two young parents had. Through much fasting, prayer, and effort on the part of my parents, friends, and extended family, an extended family member managed to find a pioneer in the field of pediatric opthalmology that operated on newborns with cataracts. He had been lecturing all over Europe and Canada, and was trying to turn the tide in the USA. My parents eagerly sought after this doctor and scheduled an afternoon conference call with him. When the physician found out that David was almost three months old, the doctor quickly responded, “we have NO time to lose…your son’s brain may have already turned off to receiving signals from that eye. Once the brain turns off to those signals, we will never be able to turn it back on…I need to operate on your son in San Franscisco at 7 am tomorrow morning!!” My parents got off the phone, called the SLC airport to purchase two tickets to San Fransisco, made a few frantic calls to shuffle their other five children to family and friends for a week, and my parents were off to the airport within a couple of hours after getting of the phone with this doctor.
The surgery was a success, my parents had to stay in CA for a week following the surgery, make numerous trips to CA over the years, spent thousands upon thousands of dollars on special lenses and surgeries, devoted thousands of hours to grueling patch therapy, but this guy is a gem who has defied all odds. In fact, David was actually asked to come to CA years later and was interviewed by the press when he participated in a ground breaking ceremony for a new center that was built for pediatric patients.
The reason I chose to share this story with you is that I want to let you know that you, as Lucy’s mother, know Lucy FAR better than any doctor. Never silence your instincts or the spirit. If something is nagging at you, keep pushing and prodding, even if the doctors are giving you a hard time. There may be someone out there that knows something that all the doctors currently do not. Just keep searching for that pioneer who will help you and your family make history in breaking down the barriers to this syndrome. And don’t be afraid to have others help you in this pursuit for help. If extended family and friends had not helped my mom and dad search for medical assistance, my parents would never have found the help that David had needed. Let others help you and serve you in this capacity. You never know who someone ELSE may stumble into.
I want you to know how much I admire you. You are an amazing person and you, your husband, and beautiful family will get through this…I am sure there will be moments when you are up to your eyeballs in the trenches and you will wonder where you will muster the strength to keep carrying on. But you have such a vibrant soul who can see the good in any situation. You will triumph!
Much love to your sweet Lucy. It just doesn’t seem fair that a precious little child should have to endure trials such as this. She is so blessed to have parents who will help her see the silver linings and recognize that these tests, though incredibly difficult, have the capacity to shape her into an incredible person who will ultimately influence many in her life. I know, for one, that she has already influenced me.
Know that you are in my thoughts and prayers!
I was searching BBS 10 and found your blog. I have 2 daughters with BBS – 1 son who passed away from symptoms of BBS, and 3 older “normal” children. I know how you must feel right now – because I was in your shoes 16 years ago. We actually have a very active email group with nearly 200 families all living with BBS. We also have a family conference coming up in 2010. please email me back if you are interested in more information! Our website is: http://www.lmbbsa.com I am Mary – my girls are Ashley and Carly. My son Josiah has a link to his page on the site too. You are not alone!
Hi, My name is Kathleen White. Someone showed us your blog because our son has the same syndrome as Lucy. She is very cute, and it is such a privelege to have her. We were surprised to hear of another child in Utah. Our son Carter is 12 years old. He is tall and handsome with blond hair. The syndrome affected him more than most. He was born visually impaired and is very delayed. We think it's fortunate that Lucy is so advanced and has the advantage of vision early on (that's our understanding). You can send me an email if you would like to chat about our little kids sometime. BTW, have you read Welcome to Holland? It's an essay about having a special needs child. It really helped me after my son was born:
I am visiting your blog, via your parent's website. I got your book, "Mother Book of Secrets" for mother's day this past year right after I had my 2nd baby. I loved reading it and was excited to join values parenting and that you were willing to share your blog with everyone on there, I don't know if I could be that brave. I love hearing about Lucy. You guys will be the best parents that sweet little girl could have! My little sister has a rare chromosome disorder called tetrisomy 9P. We really don't know anything about it except that no one has lived past age 20. I also love your blogs on newborns, aren't they the sweetest things ever!!!
What a gorgeous story, of a gorgeous little girl. She's the cutest thing I've ever seen. Drs thought that my son had downs when he was still in my tummy; it turned out that he didn't. But I sure do remember that scary feeling. It sure didn't change my love for him! It's really made me look at children with disabilities much differently.
I've just started reading your blog a short while ago and I absolutly ADORE the way that you write about your big, beautiful family.
As a mother of five children, three of whom are boys with a rare genetic bleeding disorder, I can relate to a lot of the things you feel and say. Living with any genetic disorder is, well, lonely sometimes. Even with supportive friends and family, unless they are living it, they don't really get it.
Hi shawni! I can so relate to you! My daughter has also been diagnosed with bardot biedl! She is two now and vision is not so good even now as she has lebers congenital ameurious ?not sure if it will deteririote further! Doesn't show signs of night blindness at the moment! We lost another baby to this condition as he also had a severe heart defects ! His anniversary is tomorrow! Would be 4 now! Maya is my lovely gorgeous girl my F.F.R I call her favourite female relative! She's cute and funny , loves music! She also had an extra finger as well as two extra toes like Lucy ! She has an older brother whose 6 ! He's fine and a great brother! It all teaches you patience and unconditional love! Love to you all , Julie (Ireland)
Hi Julie…do you ever go to the BBS conferences in England? We are thinking of going this year. I wish you all the very best with that sweet daughter. Love, shawni
I just found your blog by clicking around form one blog to another and the Lord certainly sent me here and to this page. I needed to read it. I was drawn in by your Elle's beautiful and joyous smile and then I could not stop looking at cutie Lucy. Anyway, my middle son Harry is going for genetic testing in January for a rare and very serious disease. Like you and your husband Dave. My husband (also a Dave) know deep down he has it. As I read about your call from the geneticist…I could picture it all.
Our Harry goes to the opthamologist 1/9 to look for a sign of this disease…this can effect eyes too. I will pray for you and lil Miss Lucy. I would love your prayers for our Harry too.
Somehow this post as me a little better prepared for the months we have ahead. Thank you.
Oh. What a heartbreaking thing to go through.
But. You're right. She's breathing. She's hugging and kissing and loving you all. She's with you.
And clearly, so clearly, she's in exactly the right family for this. <3 A family that will be advocates, cheer squads and love her madly.
My sons have autism. It is nothing like what your family faces. But I tell myself, we're lucky and they're lucky. We're lucky to have two sweet, sensitive, gentle boys who happen to have autism. We're lucky that those 'quirks' form part of what we love most about them.
And they're lucky because we're totally up for this. We wouldn't trade it. (Again, I know this isn't nearly as serious as a medical, congenital, degenerative condition, and I'm not making light of Lucy's situation. Merely saying I'm glad she got you).
God bless you all…what an amazing beautiful family you are…I'm touched by your girl and story…You have wonderful strength and importantly Insight…very important for the path the you all shall imbrace with odvious optimisum.
My, now 12yr old was sexualy abused for years & with amazing courage, she put him in jail…Not a disablity I know, but was left wanting to die…an 8yr old shouldn't want to die…with much CBT theripy and inspiration that the police man that started proceedings was a servivor himself…she lead our little family of 4 on a path of optimisum and strenght, and will start high school monday sooo excited about her future…I worry about the effects this will have on her as she enters relationships and needs to learn that what was tubo as a child is natural as an adult…I pray her road doesn't find drugs and her nightmares don't torment her to self distruction.I have learnt many lessons from her that has guided me in dealing with the sick gross feeling I live with every day…For me seeing her coping with life anables me to let go. I had a blind girl visit my home. Her mum has her wrapped up at 27, and she longs to live a productive life but is held back because of what her parents want. I grow stronger with my girl when I give her space to grow. I myself have succecfully lived with a mental illness most of my life…There came a point when I realized that with anything that is disabling, WE are NOT our DISABILATY…WE are the person week BELIEVE we are…I said this to a theripist and she was inlighten at this way of thinking!!!so was I, hehe…but it's so true. Lucy is not the syndrome, yes it's an obstical but obsticals are ALWAY tempry. I bougth my girl the Dr Suess Book "oh the places you'll go" !!! It's my favorit book…please share it with lucy…it's a wonderful metiphor for life…for any age! God bless your path.
Hi Shawni, a friend told me about your site and I was truly hoping I would be able to meet you at the Sydney Power of Mom/Mums retreat, but I understand it wasn't to be. I am a special needs educator here in Sydney Australia and i am truly in love with my job. I get to see beautiful children everyday who sometimes struggle to be part of a world that doesn't understand them. Your little Lu is truly precious and just looking at her photo makes me want to hug her and squeeze her cute little cheeks.
One of my students has Battens Disease and her hearing went when she was 8. She arrived at our school last year with reasonable vision but she is now blind. It breaks my heart to see these changes but the comfort comes from her laughs, her hugs, and the fact that it doesn't seem phase her, she just keeps going! All the best to your family and your lovely Lucy:)
I'm so happy to meet you and Lucy. Thanks for sharing all of this. I am eager to read a more recent post now. God bless you all. Blessings, Amy
Hi, My friend Sharea led me to your blog for photo tips because I am a budding photographer. I read a little about the tips and was drawn in by Lucy's story. Although I can not afford financially to donate, I have created a post about it on my blog http://ablendedfam.blogspot.com/ title The I love lucy project. I also put her button on my page and I will be sharing on my facebook page. I will pray for you and your family.
Just heard about your blog through a radio show your parents were doing, and I had to check it out. Somehow, this was the first post I stumbled on, and I am touched, inspired and humbled by your little one…and your reaction. I am looking forward to becoming a regular here and reading more of your blog.
First of all, I'd just like to thank you for your blog and your sincerity and "real life" feeling that comes through.
I am pregnant with my second and have been told that he may have some medical problems. I've loved reading your posts and gaining strength from your moments of strength and feeling comforted in your moments of ___enter EVERY other emotion possible.
I'm wondering if Lucy is aware of the challenges that might be coming. Do you talk to her about them or do you hope for the best and try not to worry about what may or may not come? My mind is going a million times a minute with wondering how I might handle this situation with my own son.
Once again, I appreciate your blog so much and want you to know that many prayers are coming your way. We all have to strengthen each other through this life journey.
I'm a young mother (expecting my second) and just found out that he may have some medical/physical problems.
I'm wondering how you talk to Lucy about what challenges might be coming. Is she aware of things that may happen or do you hope for the best and focus on the positive?
Hi, I stumbled upon your blog through my search for "baptism ideas" you had a post on your daughters baptism, which was darling. I was curious, so I read your "about" of your blog. I think the tears fell when you mentioned the family praying for Lucy and that your children often come up from prayer with tear filled eyes. It's very touching. Even through this terrible trial, LOVE prevails, and teaches, and lifts the soul. I hope your family is doing well. Allyson Toone
Hello, your story of sweet Lucy touches my heart so much. As you said your other children had a 30% chance of having it as well, I wondered if they are a carrier of the gene that causes it? Will they have the same chance of having a child born with BBS? I'm a carrier of the gene that gives you a higher chance of Breast and Ovarian cancer and wondered if your family was facing a similar situation. Thank you!
Love you Lu! Just prayed for you and your family. May G-d bless you all!
Thank you for sharing your story! I just emailed you and hope to hear from you soon!