I really need to start doing a better job at updating this blog!!  No news means good news though!

Summer is upon us and school has been out for a month already!  Meghan misses her teachers and friends at school...as well as her bus driver.  We have had a busy summer so far and much of our time is spent at the ball fields for Lukes games and tournaments. 

Meghan's speech therapist called me a few months ago and talked to me about her noticing Meghan being tongue tied and suggested that I contact her PCP to have it snipped.  This is something we brought up to her doctor since she was a newborn, but it always got dismissed.  I spoke with Meghan's PCP and he referred Meghan to see an ENT.  After meeting with him, he agreed it needed to be snipped, so we scheduled the surgery, which was done mid April.  You wouldn't believe how much her speech has improved since having this procedure!!  Absolutely amazing!  Her speech therapist called the first day Meghan had therapy since the procedure and said she noticed the improvement right away!  Meghan's words aren't 100% crystal clear, but improvement is definitely there!  Now the next step is to have Meghan seen by the dentist.  This is a very dreaded appointment and I have a feeling she will need to have dental work done under sedation as I do not think she will tolerate a dentist at all doing work in her tiny, crowded mouth.

Getting ready to go back to OR for tongue tie release

After Meghan's couple of bad falls this winter, I spoke to her OT.  She suggested that I talk to Meghan's orthopedic doctor about SMO's.  We have been asking about these for a couple of years with her Ortho, but a referral for PM&R was never made.  So, I was prepared to be turned down again.  However, to my surprise, after talking with the Ortho on the phone, he agreed to refer Meghan to have an assessment for orthotics.  The assessment lasted about 20 minutes.  It was tough at times to watch the assessment as they had to see how bendy Meghan's joints are.  Let me tell you......they are VERY bendy.  She took Meghan's pinky and bent her pinky all the way back to her arm.  Meghan didn't flinch at all.  The evaluator looked at me and said she is not supposed to be able to do this.  EEK!  Her toes can also bend to her legs.  The PM&R evaluator agreed that Meghan should start with SMO's to help with ankle stability.  Her ankles are very weak due to her hypotonia.  Her ankles also roll out, which was causing her ankles to give out and that's why Meghan was falling.  After the assessment, Meghan was fitted for her new braces and she picked out her own design!  We picked up her braces a couple weeks later and within the first 10 minutes of Meghan wearing her braces, she said they make her feet feel so much better.  She mainly has to wear them to school and when she's outside to help when she is more active.  I am so happy for Meghan that they are helping her!

Meghan's SMO's

Meghan's PCP is moving from clinic care to hospital care, so Meghan will start seeing a new doctor in July.  We have chosen a new PCP and I am very excited to have him on board with us.  He has seen Meghan a few times in the past and is very thorough, so I feel this will benefit Meghan's care greatly.  We said our good byes to Meghan's PCP today, as she had her 5 year well child check up.  She had 2 shots, but he gave her a sucker after her shots.  Meghan of course was thrilled about that!  Meghan weighed in at 24.6 pounds and is just shy of 35" tall!  The only concern is that it appears Meghan has a slight curve to her spine and he told us to talk to Meghan's ortho at the appointment in September.  Otherwise, a clean bill of health!!

Upcoming appointments are ultra sound, Endocrinology, Genetics, orthopedics (as well as a check up with PM&R to check braces), and neurosurgery.

Tomorrow, February 29, is Rare Disease Day!

Rare Disease Day is celebrated on the rarest day of the year, which is the last day in February.  It is an internationally recognized day designated to raise awareness for the over 7,000 rare diseases that affect the lives of millions. In the US, a condition is considered rare if there are fewer than 200,000 people diagnosed with the condition. 

Tomorrow, we will celebrate Meghan and her 9 different rare conditions.  We will use it as an opportunity to raise awareness about her conditions!  You can raise awareness by wearing jeans tomorrow for Meghan, or for those you know who are living with rare conditions.  People wear jeans on rare disease day since 80% of rare conditions are genetic (genes = jeans).  If you are on facebook, hopefully you will see lots of info on Rare Disease day!  Governor Dayton has proclaimed tomorrow as Rare Disease Day in Minnesota and we are excited about that!

We recently met with Meghan's care team at school for an IEP meeting.  We have these meetings atleast once a year and included in the meetings are Meghan's speech, OT, PT therapists, Meghan's preschool teacher and special ed teacher, and a couple of representatives from the school district as well as Jeff and myself.  The meeting went very well, as expected.  Meghan is definitely making great progress as the school year continues.  She continues to struggle with the alphabet and writing skills, but is progressing at Meghan's pace.  She recognizes letters in her name, but not too many other letters of the alphabet.  Writing letters or numbers are TOUGH work for her.  Her OT is continuing to work with her on using the treadmill for endurance and leg strides.  She is still at 4 continuous minutes on the treadmill.  This has helped with her endurance tremendously!  Jumping on a mini trampoline is being worked on as well to help her learn to jump.  At fall conferences we discussed the possibility of holding Meghan back a year to start Kindergarten.  At the recent IEP meeting, we officially decided as a team that it would be in Meghan's best interest to be held back.  Right now, her ambition for school is amazing.  She is always excited to go to school and we don't want her to lose that excitement.  Kindergarten is a huge change from preschool and one that she's just not ready for, academically or physically.  Academically, she doesn't have the basic concepts yet that are needed for Kindergarten.  Physically, her stamina isn't built up enough for her to handle 7 hours of school.  We felt that if we place her in Kindergarten without her having the basic skills and not being able to tolerate a long school day, she would quickly get discouraged and lose her excitement for school because she wouldn't be able to keep up and she would start not wanting to go to school.  One more year of preschool should really help her out.  Starting this month, she is getting more 1:1 para minutes during the day as well.  Due to her size and a few things she needs extra help with, the school felt it is best to have a para with her more.  With speech, we are really working with her on talking slower.  She has very little room in her mouth and that doesn't help with her being able to get words out clearly.  So, the slower she talks, the clearer the words are pronounced.  Not only that but when she is really excited about something and tries to tell a story, 5-6 words into the story, her words get lost in translation and they are hard to understand to those who are not very familiar with Meghanese language :)   While we get used to her way of talking, others aren't.  She has really become a social butterfly.  Her teachers informed us that all of the kids in her class are very gentle with and around Meghan...even the most rambunctious of kids are gentle with her.  I have seen this first hand and it warms my heart when I see that.

Meghan is doing her second year of Special Olympic young athletes program.  There are 4-5 kids enrolled this year, which is a much smaller group than last year.  All of the kids in the program this year are in her preschool class and its awesome to see the kids interact together.  While the kids are playing, it gives us Mommies some time to chat, too!  One big addition to our town will be a new park that will be designed for special needs kids.  It will be an inclusive park, so that all kids can play together and interact, but there will be special equipment for special kids.  It is set to open this summer!  One of the Moms that has a child in the young athletes program initiated the park idea, and she said she kept Meghan in mind on some of the new equipment, so that was great to hear!

We met with Meghans Endocrinologist about a month ago.  At this visit, she decided to discontinue giving Meghan growth hormone shots.  Her body was resistant to the shots.  She asked if we would be okay if she presented Meghans case to her co-workers at a meeting.  Of course, extra insight is always appreciated, so we agreed to her request.  A week later, she called and said that she presented Meghans case and they came to an agreement that the next course of action is to have Meghan be treated for low IGF-1 levels.  When Meghan had her stim test, which determined Meghans body was producing very low growth hormone, they also found that her liver was not producing a lot of IGF-1.  So, the first plan was to treat with growth hormone shots.  Since Meghan's body didn't respond, the next plan is to treat the low IGF-1, since that has consistently been low over the years.  The downside to this treatment, is that we have to give Meghan 2 shots a day and we need to watch her blood sugar levels, because a side effect of the drug is hypoglycemia.  She also needs to eat within 15-20 minutes of being given the shots.  We will not start this treatment until this summer.  The drug that will be used is for children that are growth hormone deficient, but their bodies are resistant to growth hormone.  So, we will give this a try to see if it will help with her growth.  Also at this visit, Meghan had an x-ray of her hand for a bone age study.  The bone age study showed that her bone age is 2 years, 6 months.  She was 4 years 7 months at the time of the x-ray.  What that says, is that her bones have more growth potential than a typical 4 year old, as long as it has the right "working machinery."  She still says that she, as well as her colleagues and geneticist, believe that a large factor in her growth is her unknown genetic condition.  She said without knowing what her genetic condition is, it's trial and error in finding the right therapy to help her body grow.  Meghan is enrolled in a growth study, which follows Meghan and her treatment plans.  Although the information will never help Meghan, we hope that someday, it will help some other little child that is going through the same things Meghan is going through now.

Next Monday, February 29th, is Rare Disease Day!!  We have some big plans for that day, so check back in the next few days for some special stuff that is in the works! 

Wow!  It has been quite a while since we posted an update.  I really fell behind, but will update as much as I can.  Sorry for the long post!

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! 

 

Meghan had a couple appointments yesterday.  First we met with her Geneticist.  Meghan's regular Geneticist moved out of state, so this was the first time we met with her new Geneticist.  We were pretty impressed with him and I loved that he got to her level and joked with her throughout the appointment.  It made her feel at ease.  To sum up the appointment, he is putting Meghan in the category of having an undiagnosed genetic condition.  He feels very strongly that she has a genetic condition that can tie most, or all, of her conditions together.  However, it could take years to find our answer.  She's had some genetic testing done already, which has come back with no answers so far.  But, there are other tests we can do to see if we can find our answer.  She's been tested already for Beckwith Wiedeman syndrome, which came back 80% negative.  He said there are a handful of people whose test comes back as 80% negative, but end up having BWS.  So, our first step is to completely rule out BWS, which will be done with a blood test once insurance approves the testing.  If that comes back okay, our next step is to have a fibroblast cell test done, which will be done using the cells from the skin biopsy she had done in November.  The lab that did the test on her skin biopsy froze some cells, and if we end up needing to do the fibroblast, the lab will grow new cells from the biopsy and the test will be done on the new cells.  If, after we don't have answers from that, we will have genome sequencing done.  There are 22,000 genes in our bodies and this test looks at every single gene.  However, this test is extremely expensive, so it could require the Geneticist to write a letter on behalf of Meghan as to why the test is needed, which he is on board to do.  If all of this comes back without answers, we will re-submit all of the bloodwork/cells in 5-10 years.  Science is always evolving and even if we don't get answers in the next year or two, 10 years down the road there could be a test available which could give us our answer.  He also feels that Meghan's lack of growth is probably due to her undiagnosed genetic condition, especially since growth hormone shots aren't helping her grow adequately.

Then we saw the Endocrinologist.  She agrees with the Geneticist that her lack of growth is most likely due to her unknown condition.  We just don't know how to treat her growth because we don't know what the cause is from.  She would've expected to see much more growth by now.  3 months ago Meghan was at -3.79 on the growth chart.  At yesterday's appointment, she was -4.07% behind.  She increased the GH dosage and we are going to give it another 4 months.  If in another 4 months, there still isn't adqueate growth or catch up growth, we will discontinue GH shots.  We can always try again at a later date.  We all agreed that if it isn't working, there is no need to continue giving her the shots.  She did enroll Meghan in a study that will watch her growth and will follow her on what works and what doesn't work on her.  We discussed a problem that we are running into with Meghan lately.  We have been trying the "eat what you want" approach with her.  However, this has not been a good thing at all.  Meg will over eat and will be up all night long with bad stomach pains/nausea.  Meghan just doesn't have the ability to stop eating when she is full, and over eating could cause her stomach to burst open, which would be extremely devastating.  So, we are to limit her portions so she doesn't over eat, as well as have strict set meal times, which we already have.  We are learning as we go with her food.

She was due for blood draws yesterday, which resulted in 3 failed attempts.  The nurse tried taking blood from each arm and was unsuccessful in getting any blood at all.  Her veins kept rolling.  So, we need to let her arms rest for a few days and try again to get the blood.  We need to check her AFP tumor marker.

Meghan is almost finished with her first year of preschool!  I think she will really miss going to school and it's been great to see her develop great social skills!

Three years ago yesterday, Meghan's life was literally saved when she had her brain MRI.  Finally, after almost 10 months of searching for answers, we got answers!!!  While the news was a huge relief and the biggest scare of my life at the same time, I knew she would now be okay.  I am so so so proud of Meghan's accomplishments and her will to fight each and every day.  Three years ago today, her shunt was placed and our baby got a second chance at life.  It is amazing how much happier she became after her shunt was placed.  We are very blessed!!

Holding Meghan in pre op room. 

After surgery

This is the picture that I think of when I think of Meghan's first smile.  This is the first picture of her smiling that I don't see pain in her eyes.  Thank you God for leading us to the right doctors!!



Happy Spring!  Now that winter is officially behind us, we look forward to spending a lot of time outside!

Meghan started participating in a program called Special Olympics Young Athletes.  The program meets for 1 hour every Monday night for 7 weeks.  There are 6 or 7 other kids in the program - some she knows from school.  Since she is unable to participate in contact sports, this is a wonderful program for Meghan to be involved in.  Last Monday was the first get together and Meghan had a blast!  She is excited to go back next week!

Jeff and I met with Meghan's school a couple days ago for an IEP meeting.  The meeting went great and everyone adores Meghan (who doesn't?!?!)  Gross motor and speech continue to be her biggest struggles, but she continues to progress at her own speed and there has been absolutely no regression in any area!  Cognitively, she is doing super!  She is able to count to 6 consistently and recognizes numbers 1-9.  She knows the major colors and shapes and can label them.  She knows her first and last name.  The alphabet is a little tougher for her.  She recognizes the letter M and is trying really hard to write that letter.  This school year, Meghan was in the Special Ed classroom which consisted of 6 special needs kids in the class.  For next year, we all agreed that it will be best to place Meghan in the preschool class that has 10 typical kids and up to 8 special needs kids in the same class.  She is ready for this transition cognitively.  There will be a few modifications needed for Meghan and due to Meghans size, she will have a more one-on-one para with her at school, mainly for her safety.  It is a faster paced class, so that concerns me a bit, but she will be allowed extra time to do her work. 

An issue that has come up within the last couple of months is sound sensitivity.  Meghan has always been sensitive to louder noises, but it has gotten noticeably worse recently.  It seems to be the higher pitched sounds that will bring her to instant tears, as well as sounds she has heard all her life that never bothered her before, but they do now.  Other than having her avoid hearing sounds that are sensitive to her, there isn't anything we can really do.  I do not think it is shunt related at this point.

This is still in the works, but when we will be in Maryland visiting Meghan's runner and her family, the Special Olympics torch run will be going through their city.  Meghan's runner has been in contact with an organizer for this event, and it's a big possibility that Meghan, her runner and her family, as well as Jeff, Luke and myself, will all be able to participate in the torch run!!  We are super excited about the possibility of this becoming a reality and are truly, truly blessed to have some pretty amazing supporters in our life! 

Growth hormone shots are going well for the most part.  There are still some days where she cries, but overall, it's going well!  Next doctor appointments will be in May and then I believe we will have the summer off from appointments...YAY!!!