Life at home since Kaylee's tongue reduction has been wonderful! Kaylee has just blossomed since coming off the oxygen and being able to eat and breathe easier. When we left St. Louis, they told us Kaylee didn't need oxygen, but we should have our pediatrician confirm that when we get home.
Kaylee had an at-home-pulse-ox monitoring her heartbeat and oxygen saturation for 10 nights shortly after coming home. When we met with the pediatrician to go over the results of her test, he asked, "Now, just to be sure, she wasn't on oxygen when she had the monitor on, right?" When we confirmed that, he replied, "well, her sats (saturation) were awesome!" So we haven't been on oxygen since October... but go for our (hopefully final) sleep study on February 7th for a super in depth look at Kaylee's breathing.
I feel like she's breathing well... I mean, we haven't seen any of the low oxygen indicators they told us to watch for. Though I am still slightly nervous about the upcoming sleep study. I just don't want to hear otherwise. The tongue reduction seems to have made a huge difference, but there are a lot of other BWS parents who talk about doing tongue reduction and later removing the tonsils in order to fix the sleep apnea. So I suppose there is still a change that she has some apnea and that we'd have one more surgery.
While I'd like to say she is sleeping better, she isn't... which also makes me nervous. Is she waking up from a breath holding episode, or is she waking from something else? While they say that she isn't going to remember her traumatic chain of events in St. Louis (and I know she won't), I believe the trip had a short term affect on her. She was so cuddly when we got home. She didn't want to be out of my arms and was waking every 45 minutes throughout the night... mind you, she was practically sleeping though the night before the surgery. It was a rough few months. Anyway, her sleeping routine has gotten better, now only waking 3-4 times a night. I'm telling myself that she just got in the habit of wanting to cuddle, but I know there is a chance it could be apnea related.
But she is the happiest baby. Her big broad smile will light up a room! She has a little giggle... no "real" laugh yet, but little chuckles so much of the time. :) She eats like a champ! Still nurses on demand and supplements that with solids at mealtime. She LOVES scrambled eggs, bananas, oranges, applesauce, mashed potatoes, and her newest favorite, sushi (with cooked crab... no raw fish)! She sits on her own and is starting to scoot around and brings herself to her hands and knees... no crawling yet. She's pulled herself up a couple of times. She loves standing at her activity table, in her walker, and jumping in her Johnny Jump Up. Her hair is starting to thicken up... really showing off those orange locks! :) Her periodic cancer screenings continue to look good. She had a check up with her heart specialist, her murmur is still there, but sounds good. We see him in a year to see how it's doing. He still expects it to close itself, but even if he had to do surgery to place a shunt, it won't be until she is 4+. I can't believe we will be recognizing her 9 month "birthday" in just a couple weeks... where has the time gone?!
It's recently been brought to my attention that there is still some misunderstanding about Kaylee's condition. I heard someone attribute Kaylee's "problems" to her exposure to our dog (who lives inside and sleeps in our bedroom). So, rather than getting upset about this, I figured it was a perfect time to educate everyone about Beckwith Wiedemann Syndrome. I feel like it's our responsibility, as parents of a child with a "syndrome" to educate others about it. Hopefully this will help those wanting to make assumptions, to make educated assumptions... about Kaylee or any other child with a "syndrome." And what a perfect time to do so with Omphalocele (one of Kaylee's hurdles) Awareness Day coming up on January 31st (Omphalocele Awareness colors are cow spots... if anyone is interested in sporting them!)
Beckwith Wiedemann Syndrome is a genetic mutation, not much different than a mutation that would cause a 6th toe or cleft palette. Sometimes it is inherited, but in Kaylee's case, it's just a fluke. There is nothing environmental that correlates with the development of BWS... nothing I did or didn't do in pregnancy, nothing in our lifestyle, nothing in her treatment in utero or after birth... it is just a fluke. 1 in 15,000 kids will have BWS. There IS an increased chance for BWS in babies born from fertility treatments (Kaylee was naturally conceived)... but they aren't sure yet why. It was first noticed and researched by Dr. Bruce Beckwith and Dr. Hans Wiedemann in 1963-1964... so it is relatively "new." There is still a lot of research being done on the syndrome.
BWS is an overgrowth disorder... manifesting itself in the overgrowth of internal organs and/or external overgrowth. Basically, the gene that regulates growth is wacky, creating an overgrowth problem up until the point the individual stops growing. There are many different markers for BWS: Omphalocele (abdominal wall defect where the abdominal wall doesn't close properly, trapping organs outside of the body), macroglossia (large tongue), hypoglycemia (low blood sugar at birth), high birth weight, long birth length, ear pits and creases, Port wine staining (stork bites on the forehead, nose and/or eyelids), and hemihypertrophy (where one side of the body grows faster than the other side).
Kaylee's omphalocele was spotted in a routine ultrasound at 20 weeks. So we were well aware of the risk of BWS, though they didn't see any markers until she was born. Then it was obvious. She was born 4 weeks premature, just shy of 7 pounds and 20 inches... big for a premie. She had low blood sugar (but that was very quickly resolved in Kaylee's case), very prominent stork bites, ear creases, and a large tongue. We were blessed to have been able to give birth at a wonderful hospital in Denver, who had seen this before. We were able to get a blood sample and later a clinical diagnosis of BWS.
Honestly, in the spectrum of birth defects, her's is very minor!
She required surgery at 14 hours old to replace her intestines and close her abdominal wall. We spent one month in the NICU at Presbyterian St. Lukes in Denver, while she learned to eat and her body learned to tolerate feedings.
Her large tongue required her to be on supplemental oxygen as a precautionary measure to make sure she was getting enough oxygen past her big tongue. And we just had a tongue reduction performed with the hopes of rectifying the breathing problems. We made sure to go to one of the world's BWS experts... based out of St. Louis. After Kaylee's surgery he was hopping on a plane to go speak at a BWS conference in Australia. Guess the guy knows what he's doing! :)
Her blood sugar sorted itself out by the next morning.
There are no cognitive problems associated with BWS. Any problems she may experience will be physical problems, but by the time she is an adult, or late teen even, the differences will no longer be visible. Her stork bites are fading. If one side of the body grows a faster than the other (which we haven't seen evidence of yet) or if she continues to be a large kid, growing faster than her peers, her body will catch up with itself, or her growth will slow down and her peers will catch up and she'll be average size... she just has the potential to reach mature size earlier than most kids.
BWS kids are at a higher risk of liver and kidney cancers. So we have blood tests (to test AFP levels from the kidneys) every 6 weeks, until she is 4, and abdominal ultrasounds every 3 months until she is 8. These both watch for tumors. As long as the fast growing cancer is caught early, it can be taken care of without any problems. Although these kids are at higher risk of cancer, it's still not extremely higher than the average kid... it just poses a high enough extra risk that they recommend the screenings.
Overall these are healthy babies... They may just look slightly different than the average kid... but what's that look like anyway?! :) A lot of parents in the online support group we follow claim their BWS kids hit developmental milestones faster than their "normal" kids (in some cases a set of twins, where one has BWS)... creating an unofficial belief that if there is anything cognitively different in these kids, they may be smarter... but we already knew that... Kaylee is the smartest (not to mention cutest) baby in the world, of course! :)
Here are a couple of great resources for more information if you are interested in reading any more: www.beckwith-wiedemannsydrome.org & www.bwcanz.org. They have a conference every couple of years... This summer it will be in Orlando. I don't think we'll make this years, but would like to keep up on them in the future. They release any new news and kinda keep track of the BWS kiddos for long term data gathering.
With seemingly all of Kaylee's procedures behind us, we are beginning to feel like we finally get to be a normal family. Beckwith Wiedemann Syndrome is just part of who she is, no different than her red hair, blue eyes, beautiful smile or strong muscles. But as long as it continues to be a talking point for others, we will continue to rehash exactly what it means. As this is becoming just a small part of Kaylee's past, I'm hoping others will learn to see her as a normal baby too. No kid should have to live with a title of a syndrome, because that's not who they are. She has a unique personality, unrelated to her physical traits. She is the biggest blessing we could ever ask for. We never expected to feel love as strong as we feel love for her. We've learned a whole new level of patience and understanding. We've come together with friends and family and received support we've felt unworthy of, showing us how lucky we are to have such wonderful people in our lives. And we've been amazed and laughed more than ever along with our beautiful little red headed angel. While the last 9 months have been a whirlwind, we are honored to have her along on our journey! :)