Update / Fundraising

First off, thank you, each of you, for the overwhelming support.  While financial support is so appreciated, the prayers, well-wishes and even the questions, have shown everyone's caring heart toward our family and our special Mila.  Everyone seems to ask the same thing... How is Mila today?  This is a great question and one I should have answered in the first email blast.  So...

Mila is AMAZING!!!!  She is 22 months old, almost 20 pounds and she is walking, babbling and curiously smiling through this world.  It was a funny joke in our family that we were going to raise "Jockey's,"  both a tribute to our home state(Kentucky) and a jab at Michelle and I's towering stature.  While our other kiddo's are small, all children with Myhre syndrome have short stature, so she will always lag in growth.  

Speech wise- She can say things like Momma and Dada, Papa, and a few other words but is having difficulty with coordinating her tongue and lips for certain sounds.  She goes to speech therapy 2 times per week to help.  She has laryngomalacia which has led to inspiratory stridor. We are hopeful she will outgrow this and are seeing pulmonology and her ENT regularly to keep an eye on it. Worst case it is due to tracheal stenosis (narrowing of the windpipe). Her ENT is planning on being there to check her airway when she is sedated in the spring for an MRI (to monitor her chiari malformation).  Mila is so funny,  she can speak 20 word sentences, on repeat, but only Mila knows what it means.  You can picture her walking through the house talking in her special language, pointing so we can comprehend.

She is in PT 2 times per week to help with her mobility. She is overall stiff in her movements. While she does walk very well (even an uncoordinated run when we chase her), her hip joints are very tight and need some manipulation so we are using therapy bands to hopefully avoid something like braces.

She is very smart, very observant and oh so gentle.  She loves to just be present, watching the constant movement in the world around her.  She loves to be included and part of why she is always found on mommies hip or crawling up my leg to be held.  How can we say no...

If you read something like this it would seem that she is just delayed.  That is the case today which we praise the Lord for. We can say with hearts of gratitude that Mila has no major medical issues today! Our job moving forward is to consistently see ALL THE SPECIALISTS and monitor how Myhre may be affecting her. Sadly, Myhre is progressive in nature and affects multiple organ systems.  Michelle and I still hold our breaths and silently pray when she sleeps in or she has a bad cough because we do not know what that could mean.

There is a wonderful facebook support group for families living with Myhre from all over the world that 2 moms started. The consistent cry that we hear from these families is the overwhelming nature of this disease. These parents (us included) are scared, they have no uniformity of help, such little information, and every case is different. We are hopeful and feel that it is part of our calling that this group will go from a support group to an established foundation. 

The National Organization of Rare Diseases (NORD, www.rarediseases.org) summarizes Myhre syndrome as an extremely rare connective tissue disorder characterized by short stature, characteristic facial features, mild to moderate intellectual disability and various bone (skeletal) abnormalities. Characteristic facial features may include abnormally narrow skin folds (palpebral fissures) between the upper and lower eyelids (blepharophimosis), underdevelopment of the upper jaw bone (maxillary hypoplasia), and an unusually prominent jaw (prognathism). Other findings include hearing impairment, short fingers and toes (brachydactyly), heart defects, muscles that appear abnormally large (muscular pseudohypertrophy), joint stiffness, and narrowing (stenosis) of the voice box (larynx) and windpipe (trachea). Myhre syndrome is caused by mutations in the SMAD4 gene. All molecularly proven cases have been due to a de novo mutation (a new mutation that arises around the time of conception, not carried by the parents). A person with Myhre syndrome would have a 50-50 chance of transmitting this to each child (there are no reported cases of a person with Myhre having children).

That is a rundown of where we are today and how we learn.  The scariest part is the unknown and when other families living with Myhre only have questions and experiences, that makes comprehension difficult. In April, we are going to Boston where there is a clinic that specializes in Myhre syndrome. Mila will be seen by Cardiology, Pulmonolgy, ENT, neurosurgery, PT, neuropsychology and the geneticist who is the lead researcher (think that will be a whip of a week?) We are eagerly awaiting to meet all of these doctors who have seen others kiddos with this syndrome.  

To be honest, we do not know what to do but the cries of these families are crippling.  Mila will be taken care of.  We trust she is cradled in the loving arms of our Lord.  We know the prayers of the righteous are many and constant.  We trust that God will reveal His will and Glorify His name BUT How do we answer the cries of our family and this community?  One answer is funding. This is the biggest need stated by the researchers/doctors. While we know this is a huge need we also know bringing the hope that is promised in Christ alone, not in funding, research, etc is our main job. We love you all and are so grateful for you. 

Justin and Michelle