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!