Oh friends! Thank you for thinking of us as we met with the craniofacial team at UCLA last week. I was so nervous about the appointment. I knew it would be long and exhausting–and I was worried we might get some bad news. I especially worry about surgery–ugh. That’s the ‘S’ word around our house!
We arrived at UCLA at 10:30am and David and I headed up to the crania-facial clinic while Steve and Matthias hung out nearby. I wanted Steve close in case anything unexpected came up–but there is no way Matthias can handle 7 hours in a doctor’s office. They found candy in the cafeteria and a nearby Target–so Matthias was a happy camper!
The sun was shining outside on the rooftop playground so David and I played as long as we could. He kept trying to go back outside during the appointments. It’s so nice they have that play space for kiddos!
We saw 10 different specialist including a limb deformity specialist, a plastic surgeon, a dentist, an audiologist and the list goes on. After 5 specialists, David crashed out. I was ready for a nap, too!
All of the doctors were so incredibly kind and patient with David. And he LOVED the attention. He held hands with them and sat on their laps. It’s easy to fall in love with David.
They took a blood sample and did a spinal X-ray. We uncovered two BIG pieces of information during the day. The first is that David is missing some adult teeth. This isn’t a huge problem, but it may require dentures in the future. The second discovery is that David’s 2nd and 3rd vertebrae in his spin {very high up in neck} are fused together. It’s been this way since birth but we didn’t know. It’s not life threatening and doesn’t require surgery–but it means his neck is more fragile. So we’ll continue to use a very sturdy car seat and we’ll avoid rough play.
At the end of the day, we met up with Steve and Matthias. I went to grab a coffee from the cafeteria for an evening boost. As I went to pay for my coffee, I accidentally spilled it down the front of me. The cashier was so kind and patient. And I burst into tears. I think it was a combination of worry and relief and exhaustion. I was one very tired mama!
We are planning follow-up visits with many of the specialist–particularly with the dentist and audiologist. Can I tell you from the bottom of my heart how grateful I am for your thoughts and prayers? Your FB comments, tweets and emails helped me to get through a long, hard day. YOU are an encouragement to me–and I am so thankful for you!
Our grandson, Luckey, is not almost 16 years old, but all your posts take me right back to the day he was born. He was born with a heart defect, his head was fused at the suture line, hypospadias, and several other obvious anomalies. Those first few days were so hard on my daughter and son-in-law. They didn’t have a geneticist that was as smart or kind as yours. She bluntly told them that he would never feed or dress himself, and most likely had deletion of the 9th chromosome. She said there were only 24 cases in the world and the outlook was bleak. WHOA…was she wrong. He has had several major surgeries on his head, and many more, not quite so major surgeries, but he has thrived. They have faced those all day, for two straight days, of appointment after appointment. He has hearing difficulties and wears hearing aides, but is proud of them. His chromosomes are normal, and we have only been able to deduce that he developed these things because of the seizure medicine that she took when she was pregnant with him. That was a bitter pill for my daughter to swallow, but they did just what you guys did…they just loved him and cherished every milestone. He walked when he was 19 months, he feeds himself, he dresses himself, and makes his own lunch everyday for school. He went to the 8th grade prom with a beautiful girl, and even paid the check. He is special to everyone he comes in contact with. We live in a small town, and everyone knows Luckey. He will always have disabilities, but they do not hold him back. We love this kid. As one of their friends put onto a picture frame “he is Luckey, but we are Blessed”.
Hi Lisa,
I’m new to your blog. Found you thru Meg’s blog. I happen to live in Newton and went to preschool in the Craft House way back when. It’s neat to see how her family has worked so hard to make it a home and now her Craft House. Also, funny to drive down the street and notice a driveway full of vehicles. . . know it’s CW just from that! Anyway, I really wanted to write about what you’ve discovered in your dear son’s neck. I haven’t read enough to know what you’ve shared in the past about David’s diagnoses and how his doctors may think it relates. So I apologize if this is of no use to you! But we have 4 children, including one of sons who was born with Klippel-Feil Syndrome. KFS is a congenital spinal disorder characterized by a fusion in the cervical spine. Specifically, everyone who has KFS has the fusion at C-2/C-3, but they may also more fusions (and since it’s a syndrome then, of course, other organ may be affected).
Sorry so long but maybe looking into KFS could help with answers. Answers are good but resting in Him is best – answers or not!
Blessings to you and yours!
Thank you Amy! David has Cornelia de Lange Syndrome. How have the fused vertebrae affected your son–do you take any precautions? Hugs to you!! xo
Well, our Dylan has several fusions/malformations at the cervical level. The main precautions given to him are no contact sports or major rough housing. The latter being the tricky part since his is a 3 yr old lil boy. Enough said! 🙂 As with any fusion David will probably have a loss of range of motion in his neck. And depending on the severity of the fusion there could be some type of interference with the spinal cord. In Dylan’s case we are to look for any signs of motor weaknesses or numbness in his limbs, etc. More than likely it would not present until he’s older. I’m guessing they’ll want to follow David at least yearly with an xray. Ortho Surgeon is who you want following him for that obviously! Hope you have found a good one!
Lisa, my sister has a step-son with cornelia de Lange. He just turned 30 years old. Cannot walk but crawls on his knees to get around.
She lives in Elizabeth, Pa. Zachery has been thru a lot. He has a trach now and is only on liquids due to an infection he got from swallowing food getting caught in his lungs. He gets round the clock care from my sister. I would love to put you in touch with her so you could meet.
Sounds like a long and stressful day, but I’m glad you all got through it, and got some answers! That last picture of David sleeping is so precious!
I am so happy to hear about David’s good appointment. I’m sure it was a long, exhausting day for both of you. Praying for David daily 🙂
Dearest Lisa,
You are one amazing mother!! You and your family are in my thoughts and prayers!! I also want to thank you for the wonderful jewerly you design and sell. I purchased a pieace for myself and my my mother for Mother’s Day!! She loved it!!
Jessica Roth
I will definitely be praying as well as thanking God for good reports. It is so hard after an exhausting day to not get emotional, and to lose coffee probably didn’t help:) Praying for strength as you meet with doctors about David.
I agree! Thanks Emily!
Praise God for good reports! Hoping you get a lot of rest. Hugs!
Thank you Kate!
They are long days Lisa 🙂 I have a kiddo with CdLS and when we do “specialist” days I leave my other five kiddos with my hubby and travel interstate. Last monday was our last surgery for a while (she has already had 2 open hearts and a fundo/PEG tummy surgery, last Monday was cleft palate and grommets). The people who operate my favourite café at the children’s hospital know me by sight. I hope to avoid going back for a year now which will be a wonderful relief – even if we do have plenty of therapy days here at home therapists rarely give scary and life-changing news. I hope you can avoid the “S” word for a while longer.
Wow! You’re an amazing Momma! Thank you for your sweet encouragement! xoxo
Lisa, I can relate to the exhausted Mama after a day of docs and tests. My son has autism and in the course of months of tests at 2 years of age, one was a barium GI series. He had extreme tactile sensitivities, especially what went in his mouth. 5 men and I held down this little peanut on an xray table while a nurse put an ng tube in and forced the barium. We had to go through a pedestrian above the street walkway to get to the car. I don’t know who was crying harder him or me. The looks we got! But not one person said a word.
Lots of love, Janet
Wow! That’s one of the hardest things to see as a Mom! Thank you for sharing your story! xo
So glad there was no “s” word!!!! And so glad that day is done for you. Happy Mother’s Day to a truly inspirational and real mama. xoxo
Thank you Kelli! xoxo
New here, but I’m happy to be joining along with prayers and good wishes! Happy Mom’s Day weekend!! I am trying to decide what sweetness I want from your shop – so hard to choose!!! I love your newsletter, thanks tons : )
Welcome Kerry! So glad you’re here. xo
I just received my family crest bracelet and I am so happy, I love it!!!!!! Happy moms day to me.
That’s a fave of mine!! xo
Oh goodness…I guess that spilled coffee was your breaking point. Get’s lots of rest and cuddles this weekend. Happy Mother’s Day…almost.
Cuddles and rest sounds perfect! xx
Happy Mothers Day, Enjoy your beautiful boys.
Thank you Colleen!
Thanks for sharing David’s update. I’m sure relief doesn’t cover what your family was feeling after learing surgery wasn’t required. AND thankful for pediatric specialists that love and care for our kids-special people, for sure. Praises!
Feeling so thankful! Hugs to ou Camille!
Thanks for the update! So glad overall the visit was good, and you are so lucky that the docs make it a good experience for David. I love to show his pics to my little girl Taryn who has mild CDLS, and when she sees them on the computer screen she says “there’s my friend!” Hugs to all of you!!
Oh my goodness that makes my heart happy! I would love to see a picture of your daughter and hear your story. If both our kids have Cdls that makes us practically family!!
I would love to share 🙂 Yes we are part of a very special family!! I’ll send an e-mail.
Lisa, so happy to hear things went well. That was a lot of people and information to take in I’m so glad that everyone was so kind and patient with all of you. God bless you all and give David a big hug for being a big trooper!
Thank goodness for kind and patient doctors!!
Oh sweetheart, I can only imagine by the end of the day…spilling coffee would have sent anyone over the edge. I am sorry you had to go through that. I pray for your sweet family. May God give you His peace.
Thank you Melody! I was definitely hanging on by a thread! Some days are like that. xx
Thanks SO much for the update Lisa, it’s a joy to pray for David and the rest of the family. . .will continue to do so!
Thank you sweet, Arijaan! xoxo
David is so blessed to have you! God knew just what he needed when he gave David to you;)
I’m so glad he gave us David. I would’t change it. xo
Love you and your sweet family Lisa. Hang in there.
We love you too, sweet friend!
I love how surrounded by love your boys are, you and Steve are the best. Praying for decisions for the future for you, and again thanks for sharing your sweet family with us. 🙂
Thank you Karen!
we need to all take a lesson from Matthias when we have days like spilled coffee and doctor’s visits: candy and Target!!!!! Always a soother!
Yes–candy and target are good things!
Oh Lisa! I am so very familiar with the CrainioFacial Clinic and the feelings you experienced that day. I was absolutely terrified at our first clinic! I am so glad everything turned out ok for your sweet David. Thank you for sharing your journey so honestly.
Thank you Melissa!
You are such a warrior momma. I love that you took the time to take a picture with your sweet boy and show a smile. You are such an example to me…. You always are put together and you take the time to share your story with all of us. My six year old has spina bifida and I am terrible at keeping up on my appearance except for date night an church. Big hugs.
Here’s to date nights and feeling pretty!!
Hang in there Lisa. David and Matthias are blessed with you and your husband. Absolute angels you are. Remember to keep your strength and nurture yourself. I’m so sorry you are going through this. My daughter has been diabetic for several years now and me watching her deal has been difficult. I’m empathetic to you as you lift your son during this. You are an angel and keep doing what you are doing. Hugs to you!
Thank you Samantha. We want every good thing for our kiddos, don’t we?!
What a long and emotional day for you all. So glad you found great information and are blessed by patient doctors. I will say that my oldest (now 13) with autism was missing adult teeth too. They grew much later for him and at one xray weren’t there and the next they were. I found out that it happens more often than we think. Total surprise for me. Continued prayer and Happy Mother’s Day!
What a surprise–sounds like a miracle! I love to hear that. xo
Sounds like a super busy day with your sweet boy. Hope your mother’s day weekend is a wonderful one!
Thanks Claudia! I’m hoping for a relaxing mother’s day!
I so admire your positive attitude. As the mother of a son with several developmental delays, I applaud your courage and devotion. So relieved the appointments went well. David is an amazing young man. Happy Mothers’ Day to you and love to your family.
Thank you Tina!!
I am so happy you shared a David update. What a sweet little boy. I am so glad you avoided the “S” word this time. Yay! You are a very admirable woman and mother. Happy Mother’s Day!
Thank you Paige! And yay for no surgery. xo
That is a relief!
Such a relief!
Oh Lisa,
You are a brave woman. This reminds me of when we go to Bella’s cleft clinics (although certainly not as intense). Such an emotionally exhausting time. I most certainly would have cried if I spilled coffee down me. 🙂 We love your family and you too… Thanks for sharing your life.
We love you guys too! It is more emotionally exhausting than anything else. xx
I’m so happy you had a productive day with all those appointments. You always amaze me, Lisa. You are the epitome of a loving, strong, sensitive mom. David and Matthias are so blessed. When I read that you spilled your coffee and cried I wanted to give you a big hug. I can’t so I’m sending cyber hugs your way instead.
Thanks for the cyber hug!! xx
I love reading updates about your sweet family. I am praying for these doctor visits! So thankful for you openness and honesty. You may have cried, but at least you weren’t crying over spilled milk! 😉 Spilled coffee is definitely something worth crying over!
Love & blessings.
Spilled coffee is definitely worse than spilled milk!! xo
For some reason I couldn’t sleep so I clicked on your blog which I love to read!… It’s very inspiring thank you for sharing your life and your sweet family. I will be praying for your sweet David knowing the Lord has a perfect plan for Him and what a gift he and his brother are to you!. From one mama to another I know we have moments when all we can do is cry, then we laugh:) and when we look at our sweet kiddos find JOY!. God bless!
I was up in the middle of the night–we should have hung out! 😉