First a little update, then a big one.
To start, the little lady packed on the pounds over night, and is now officially a 7 pounder. Her overnight weight was 3,230g (7.12lbs) which is just about 2 lbs up from her birth weight. She’s still way, way low on the growth chart, but any growth is good growth for us.
For the big update: earlier this week MNG Labs completed the Next-Generation sequencing that we ordered in May. We met with Olivia’s core team, along with the pediatric neuromuscular specialists on Tuesday to discuss the results.
Unfortunately, despite sequencing nearly 200 genes that are most commonly associated with known neuromuscular disorders, the panel came back “indeterminate”. In other words: the test did not provide us with an official diagnosis, and we are still unable to associate a name… a specific disorder… something well known and understood… to Olivia’s condition.
The panel did however identify mutations on two of the analyzed genes.
- One mutation is being disregarded as benign, as it’s on a gene that isn’t responsible for anything that fits within Olivia’s clinical picture.
- The other mutation is of much more interest to us and her team, because this specific gene is understood to be closely related to an important part of muscle function (Olivia’s primary issue).
This mutation is incredibly rare, in fact never seen before, so it is considered a “variant of unknown significance”. But… based on: the gene’s role in muscle function, the type of mutation (“likely pathogenic”), and Olivia’s clinical picture… it’s seemingly significant.
In order to more confidently confirm that Olivia’s myopothy is in fact a result of this gene mutation, she’ll undergo a muscle biopsy. A muscle biopsy is a relatively small procedure in the realm of pediatric surgeries, but it is still a surgery. Under a microscope, muscles affected by various myopathies have fairly distinct appearances, and depending on whether something atypical is observed in her muscle sample, Olivia’s team may be able to officially connect the dots between this mutation and how it’s impacting her muscles.
If they are able to connect the dots, Dr. C (the pediatric neuromuscular specialist we’ve been working with here at University of Rochester) will have the data points she needs to begin consulting with other specialists in the field with more of an expertise on this particular gene. One doctor in particular works out of NIH, and has dedicated his career to studying this one, specific gene!
Over the next couple of weeks as Olivia’s biopsy takes place and we learn more about what these test results mean for her, we’ll keep you all up to date. In the meantime, here’s today’s installment of: a snoozy, sprawled out baby.
Optimistic that this doctor and the network of specialists will be able to find something, but in the meantime, her little fingers and her little toesies are awfully cute! And so is her little green outfit!
Great update as far as details etc. will have to read and read again to digest, understand all. Thanks for the details. Love you all. See you soon. Love, Nana 💞
Love seeing snoozy-Q.
Thank you whitney and Luke for a very detailed update. I’m sure it was very hard to put all of this into words and absorb it all as parents. She is in good hands with Her medical team. We are praying for sweet Olivia and you both. She is precious. Love her outfit!
My goodness, you did a great job explaining things. Glad there are people working to figure this out. Hopefully they can apply findings to Sweet Olivia! Nice weight gain. So adorable in her outfits. We’ll keep positive thoughts and prayers coming. Love to all❤️❤️❤️
Thank you for sharing all of the day to day updates, activities and pictures. I feel as if I’m in Room 15 getting to know Olivia up close and personal! Sending “smothers” across the miles to Miss Olivia and her mom and dad. Love, Susu
Such an important update! Yay that she’s growing, 7lbs is terrific!
As for the genetic tests, it’s a step in the direction of knowledge which is also great. Surgery is heart breaking, but sounds like a necessary evil in this case and I hope it will provide even more answers. Also great news about the specialist dr being in house!
Continued thoughts and prayers! 🙏🏻😘
7 lb beauty ❤️ Keep up the good work sweet girl xo
I think Olivia has exhausted all her energy from the day before excitement She is adorable as she sleeps. Thank you for putting her findings into laymans terms, it is difficult to follow. She is outgrowing her clothes, Yea! Grandma can shop for new ones 😊❤️
Information is good — and it will lead to other information, and a great process is started! Olivia looks great, and I love her in that aqua color!
So sweet Olivia, holding that ring and her cute little feet. we love her and you guys so much xo
We love you kids, keeping the faith at this end. Tell here Aunt Thelma and Uncle Norton love her, Just listening to JJ’s new album and the son “The Well.”