In June, we flew to Maryland to spend some time with Jenn, Meghan's IR4 runner, and her family. We stayed with Jenn's in-laws, who graciously opened their home to our family. We spent our first full day in Maryland running the Maryland Special Olympics Torch Run, which was such an honor to be a part of and was incredibly moving. There was a program after the run where the Special Olympians were honored and they even involved Meghan! Jenn lined all of this up to have Meghan included in the run and we will forever remember that day! They even talked about how Jenn and Meghan were matched through I Run 4. The remainder of our time in MD was spent by eating some (a lot!) of crab, had snowballs, saw some of the beautiful Maryland scenery and celebrated a birthday party for Meghan on the last day with Jenn's extended family. It was great to get away and spend some more time with the Saulsbury's as they are such a blessing to our family!
Meghan had a routine abdominal ultra sound in July to check on her dilated kidneys. Once again, there was more fluid and a new finding of urine blockage, so that puts her Hydronephrosis at Grade 2. She will have another ultra sound this Friday. If more dilation is seen, we will need to consult her Urologist, which we were discharged from a year ago. Her AFP level remains normal, so that's great! AFP is a tumor marker blood test.
Meghan started her second year of preschool in September. This year she is in an inclusive class which consists of 10 typical kids and 6 special needs kids in the same class. The staff consists of 2 teachers (1 of the teachers focuses on special needs kids) and 2 paras. Meghan has a more one on one Para with her this year due to her size and being in a larger, faster paced class. Even though shes little, she doesn't let that stop her and she makes her way through the crowd and let's her presence be known! So proud of her! She is doing well in school. We had conferences a month ago and got a great report! She knows all of her shapes, colors, and numbers 1-10 and she can count to 18, so that's wonderful! A few areas that are tougher for her are the alphabet, writing, using writing utensils and maneuvering a scissor. She only recognizes 6 letters and is unable to write any letters or numbers. But, while these are proving to be more difficult for her, we know that it will all come to her in Meghans time. She is doing well in speech and is being pushed very hard! Speech continues to be an area she has to work extra hard at. We have discovered that her right side of her tongue is thicker then the left side and she's rolling her right side up when she talks. This will just take time for her to figure out how to get words out by talking this way. There is nothing we can do to correct it, as it is how she is genetically made. We are all working with her on speaking slower. When she talks, she doesn't necessarily talk fast, but in order for her to get her words out in an understandable way, she must talk slow. Otherwise, her words all run together and gets hard to understand; especially if she's telling a story. OT/PT is pushing her hard as well. She uses a treadmill at school so she can work on making larger strides and walking further distances without tiring. She is up to walking for 4 minutes on the treadmill. Balancing on one leg, hopping/jumping, throwing are a couple things we are working on. She also uses a small trampoline at school to help her learn to repeatedly jump. We will hold her back another year to start Kindergarten, so she will do preschool one more year after this school year.
We saw the Endocrinologist a couple months ago. Meghan gained 9 ounces (if I remember right) from the previous appointment. She decided to give Meghan until January and will decide at that time if we will continue growth hormone shots, or take her off of the shots for a year and then retry. She had blood work done at this appointment, which showed low IGF levels, so the GH dosage was increased again. We discussed Meghan's stomach issues and agreed that the best plan for Meghan is to have strict set meal times, portion sizes and keep food out of sight. This is NOT to be mean to Meghan at all, but rather keep her mind focused off of food when it isn't time to eat. While we understand that people want to "help her out" by giving her food/treats, this is opposite of what should be done. It takes a lot of patience and effort on us as her parents to work with Meghan on when it's time to eat and when it's not time to eat and to keep her mind focused off of food when it isn't a meal time. For Meghan, it's best to keep food out of her sight...simply because if it's out of sight, it's out of mind. This is hard for us as parents to do, as parents should never have to hide food from a child, but with her obsession and inability to stop herself from eating, this is what we need to do. Our ultimate goal is to help Meghan by teaching her about how our stomach feels when we eat too much. The biggest misconception is that she is little because she is under fed. Reality is, she is little because her body produces very little growth hormone, and is medically considered growth hormone deficient. We give her shots to give her body the correct amount to growth hormone it needs to help her and her organs grow. We monitor her food intake so she doesn't over eat; as she literally does not know when to stop herself from eating (her inability to feel full is most likely linked to her undiagnosed genetic condition). Over eating can cause your stomach to burst, which can be deadly. Meghans stomach is super small (roughly the size of an 18 month old) so it doesn't take much. Trust me, we have seen her over-distended belly when she over eats and it isn't pretty and it sure isn't comfortable at all for her. All we can do is to keep working with her on this!
She recently had her yearly MRI. She did great! The older she gets, the harder these appointments are. She knows whats going on. She hates being poked and prodded. But, she tolerates it all very well. She LOVES helping the nurses and doctors out while they are doing her vitals. And I love that they all let her help! She just might be a nurse or doctor some day! There isn't much change from last year's MRI. The size of her ventricles are where they should be and her shunt is working well! Her shunt drains CSF from her ventricles about every 4-5 seconds. Her Chiari is stable at this point. The space posteriorly to her brain stem is becoming crowded. CSF flow is adequate for now, but could pose to be an issue down the road if the crowding continues. We will continue to watch that. One thing we have noticed in the last couple months is the chocking/gagging is back when Meghan eats or drinks. This went away after the decompression surgery, but has recently returned. For now, we will be keeping an eye on it and if it becomes worse, we will be talking to her Neuro. The cysts on her spine have not increased in size which is good news considering last year there was mention of placing a shunt in her spine to attempt to drain the cysts. Since the cysts didn't increase in size, this is not needed at this point which is great news!!! She is being closely monitored for scoliosis. We have known for a couple of years that the liklihood of Meghan developing scoliosis at some point is high, but for now she is in the clear. The odds are stacked against her due to her leg length difference, the cysts on her spine and the fact that her hips sit uneven. All of this puts a lot of pressure on her spine. We love, love, love, Meghan's Neuro! He listens to us and asks for our input. Not every doctor/specialist does that, so when you have one that does, you appreciate it. He is looking into a genetic condition called Macrocephaly Capillary Malformation, M-CM for short. He hasn't had any patients with this condition, so he wants to do his research and talk to Meghan's Geneticist about it. MCM is a genetic condition which includes every single condition that Meghan has. Every. Single. One. If this is the genetic condition that Meghan has, it gives us our answer. It doesn't change anything for her. This is a sporadic mutation that happens during development in the womb. This condition can not be passed down, or inherited. It is not a progressive, nor is it a regressive condition (meaning those with MCM do not worsen through time and they do not lose skills they have already acquired), so that is good news. People with MCM have Macrocephaly and can also have Hydrocephalus, Chiari and some can develop Syringomyelia. Meghan has all of those. Other conditions that those with MCM have are: fused toes, hypotonia, hemihypertrophy, limb length difference, seizures, some have growth issues and food obsession. The only thing that Meghan doesn't have are vascular anomalies. But, her mysterious pustular rash could fall into that category. I feel like this is our answer and I pray that this is the answer that we've been searching for. We will not give up, as Meghan deserves our best fight for her. We are proud and honored to do that for her.
Overall, Meghan is doing excellent and is having fun doing 4 year old things. She keeps us in line and she thinks she's a Princess. She loves to sing and dance. She still loves Dora and Mickey Mouse. She's a little sweetheart who steals the hearts of everyone she meets!
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