Boston, MGH Myhre Clinic

Boston is now behind us, but in front of us is a lot of uncertainty.  I need to spend a second praising my Bride. She is gracious, patient and loving with every breadth and she is so in sync with Mila’s care that all the Physicians were impressed.  She impresses me more and more each day with the tenderness of her heart in how she loves others and cares for our family.  No mother, no wife, can handle this situation with such grace, knowledge and enthusiasm, that I am convinced.    Mila was also remarkable.  When we left Dallas she was sick with a cold and fever.  This did not subside when we started our appointments, but in more cases than not, she was on display showing the youthful joy in her demeanor.  There were times that she showcased the “terrible 2’s,” but in most cases she was exceptional.  We spent our idle time walking around Boston, and while I pushed an empty stroller, Michelle held Mila, who would not leave her side, never letting her put her down. Who needs Camp Gladiator?  My wife is amazingly strong, physically and emotionally.  As hard as this trip was there were moments, with my bride and baby that were so sweet,  will cherish forever.

If you have not been following our story you may wonder why we went to Boston.  Myhre Syndrome is so rare that very few people in the medical field even know about it, those that do are likely dealing with 1 case, sporadically, but the specialty needs limit practitioners from understanding the scope of the challenges these kids face.  Massachusetts General Hospital (MGH) compiled a collection of professionals from every specialty in pediatrics who are seeing Myhre patients and are quickly becoming the world experts in this field.  They have now seen 6-18 cases, depending on the specialty, of various ages and complexities with Myhre.  Led by Dr. Angela Lin (Genetics), they are learning the complications of this syndrome, from gestational age into adulthood.  They were all informative, patient and remarkably hands on with Mila.  In most cases their bed-side manner rivals any I have seen, a feat for physicians with such impressive backgrounds. 

If you were unaware, we (Michelle and I with a few other Myhre parents) are forming a foundation to support this clinic and the families abroad.  I could bore readers with the wealth of knowledge we left Boston with around fundraising, Monogenics, Orphan Drugs and even Clinical Research Organizations (CRO’s) but I will leave it with this… A major goal of  this foundation will be therapeutic treatment to help and support of Genetic targeting, to impact the rare disease community.  Dr Lin and Dr Mark Lindsay (Cardiologist) met with us for breakfast to share their goals to both support the clinic to best care for Myhre cases but also what it would take to be moving toward treatment and even cure’s… Yes. they said cure’s.  We have a lot to learn and a long way to go, but are truly inspired to do as much as we can.  How can we not!  When I look at Mila and my heart is overwhelmed with joy the phrase I repeat to myself is “WHATEVER IT TAKES.”

Back to Mila.  One thing we had to know was the status of her Chiari 1 Malformation.  To remind everyone, this is where the cerebellum of Mila’s brain is extended down the spinal column which limits the flow of cerebral spinal fluid and can cause a host of problems.  We found this upon Mila’s first MRI of the brain and before the Myhre diagnosis.  One of the problems that arises with Myhre syndrome is a tendency for the body to develop fibrosis of tissue with trauma, surgery or often with unknown origin. The less is more, watch and wait approach has become well known in the Myhre community.  We have found ourselves in a tension of waiting until absolutely necessary to perform the brain decompression surgery while also making sure we don’t wait too long and there be lasting damage from cysts that can form on her spine.  We needed a neurosurgeon who was familiar with Myhre syndrome to weigh in. This was Mila’s first appointment.  The feelings of care were overwhelming from the start when this Pediatric Neuro Surgeon, understanding Myhre, did not want Mila under sedation, so after the appointment asked for a rapid sequence non sedated MRI and they worked with insurance for the preauthorization and eventual scheduling while in Boston. 

I am going to move quickly through the appointment updates so we can include everyone on the next steps, appealing to both the detailed and “powerpoint” readers out there.  The next appointment was with a pulmonologist.  We were apprehensive of this one, because to date, this is the only specialist who has yet to weigh in on Mila’s current condition.  A team of professionals met with us, examined her and labeled her currently “a boring case”, we like boring and were given a clean bill of health today from a pulmonary standpoint.   From Pulmonary we went to ENT.  The ENT and his assistant also had trouble peering into Mila’s ear canal.  A smaller canal is common with Myhre cases.  Through deafening screams he cleared enough wax to be able to see and Mila was again cleared of anything serious.  Hearing loss has happened in every Myhre patient to date, so we are consistently testing her hearing (she has been unable to pass due to her age/attention span) and will eventually need a test done when she is sedated again in the future. Next, on to a Pediatric Neuro Psychologist, because of the high percentage of Myhre patients that fall on the spectrum for Autism.  This is a strength for us. Mila is constantly running after 3 older siblings, is incredibly bright and social and my wife is an OT. While there will likely be learning issues that arise, today we are thankful for how far she has come.  

At the end of each day we are all exhausted.  Being with a toddler who has appointments instead of naps, we had her in bed, lights off by 6:30 every night.  This served her well since she is leaving Boston with the similar symptoms of illness we came with… what a brave little girl.

Yesterday was the hardest day. Probably second to the day we heard the word “Myhre “for the first time.  Not because it wasn’t helpful, not because of Boston or Dr. Lin’s team but because of the grim future that awaits us.  At 8 am we met with Dr. Lin and heard from her experience (the most in the world) what can happen in these little bodies.  We saw pictures of familiar faces and heard stories of Cancer diagnosis to early puberty (as young as 7) to heart transplants and death.   We were informed of what can happen comparing what they see in Mila to other kids who have now lived through these warnings.   Dr Lin, as gracious as she could, showed us this journey.  A Pilgrim’s progress path await.

After Dr. Lin, Mila had an EKG and ultrasound to get current images of her heart.  This is where the most severe and numerous complications arise in people with Myhre.  Dr. Lindsay, the Cardiologist, was quick to point out that Mila has a smaller than normal Aorta, the main artery that pumps blood from the heart.  This is not concerning today but may create problems as Mila grows.  Her blood pressure was slightly high so they are wanting her to get a renal ultrasound to rule out renal arterial stenosis.  Her heart and it’s function were cleared but Dr. Lindsay had to inform us of 4 major complications common with Myhre cases.  The 2 most drastic and life threatening are Heart Failure (need for transplant) and Pericardial Infusion (fluid around the heart) these are life threatening and can happen out of nowhere.  Let’s focus on the silver lining.  Mila’s heart is strong today.  If there is a complication, the earliest recorded is age 8 (except for the kids born with congenital heart problems) and was the pericardial infusion.  We left Dr. Lindsay’s office with some things to look out for and a promise to remain vigilant.

Our last scheduled appointment was with PT.  Mila Girl was so excited to be back in a gym and showing off her skills.  She was excitingly playing on familiar therapy toys, climbing stairs and showing off for her therapists.  She shines here and they said so in their assessment.  Her labored breathing and smaller rib cage were the biggest concerns.  I mentioned earlier the Neuro Surgeons request for a rapid MRI, well this was authorized and scheduled as our final task.  Most MRI’s require the patient to remain still while the heavy and loud machine takes internal images of your body.  For a toddler this requires sedation as it did for Mila in the past.  A scary 1 hour process we are unwilling to risk given Myhre if there is a way around it.  With a rapid MRI the subject cannot move for upwards of 5 minutes, For Mila, this seemed like an impossible scenario.  Lay completely still for 5 minutes.  We had little hope.  What we did not know is that they would strap her down and to ease Mila’s anxieties, Michelle got to be in the machine with her.  So imagine, Mila strapped to a big, loud, scary machine, not being held by her mommy, which this week caused a few melt downs, and her mom crammed into a device on top of her.  Mila was not happy and cried hysterically for the duration.  Supermom remained in a plank position so as not to crush her wailing child.  They made it through and got the images needed.  Good job girls! The follow-up came with “no significant changes,” from the last MRI.  Repeat in 6-9 months!

So the particulars laid out now for our thoughts and feelings about the entire week.

Michelle and I both hoped that one look at our precious Mila and Doctors would say, she is a mild case.  The hard truth is there is no mild case.  The complications are many and so severe that no one (in their limited sample set) has proven escapable.  This is a hard pill to swallow.  The things we learned and the images we saw were tough and the future is not bright for these individuals.  We reassure ourselves with thoughts of genetic breakthroughs and hopes of clinic trials or cures but as of today none of that exists.  WHATEVER IT TAKES.   We fly home today with a healthy 2-year-old.  A 2-year-old who we know God knitted in mommies’ womb.  A 2-year-old who was designed before this world began to be the loving daughter of me and Michelle.  A 2-year-old who for some reason has a genetic disorder called Myhre.  A 2-year-old who was born at this time both in the history of the illness but also during such advances in modern medicine.  A 2-year-old who was blessed enough to get the diagnosis early and is one of the youngest recorded cases.  There are many things we think about and find comfort in; especially, when we trust that God has a plan for Mila’s life and for our family through this disease.  The question is what we must do to be faithful… WHATEVER IT TAKES.

After we calmed down from the episodes of our week Michelle needed some time so went out for some solitude.  For me, I spent about 1 hour in worship with my little Angel.  She is a gift I never deserved and if a complication arises today, I consider myself the luckiest dad in the world for Mila.  For all our kids.  I cannot look at Mila without smiling.  The love I feel for her is so immense that I feel God’s Spirit overwhelm my soul when I am in her presence.  During that hour we laughed, danced, and I held her tight, not because it is a last or because her days may be shorter, but because she is a gift I choose to celebrate and, in that moment, overcome by emotions, I wept with joy.  To my surprise I was not angry or scared, but thankful for her.  Mila brings me joy and in some supra-natural way this Syndrome has brought a broken man to his knees to find joy in the worst of situations.  James 1:2 says “to consider it all joy, to encounter trials of various kinds.”  This is a trial of a lifetime and Mila will bring greater joy to me, and this family.  She already has.  She has and will strengthen our faith.  She has and will grow the love we have for each other.  She has and will bring communities together.  She has and will make this world a better place.  For me, Mila makes me want to hold her brothers and sisters tighter and to be the best dad I can to my kids who desire nothing less.  Mila makes me want to be the greatest husband that my incredible wife deserves. She makes me want to fight for the marginalized, the ones who are overlooked, undervalued, the ones who make people feel uncomfortable because of their differences. This small rare disease and special needs community. Mila makes me want to send a Holy Roar to God every second as my Spirit longs for him to be praised.  So… For Mila she makes me want to do WHATEVER IT TAKES to give her the greatest life possible.  WHATEVER IT TAKES.  To God be all the Glory!