Happy RARE DISEASE Day 2012!!!

Today Bruce is 9 months, 9 days old and we are 9 months, 6 days into the journey and maze of doctors and diagnoses and appointments and medications and all the excitement that comes with! I never thought I would participate in celebrating Rare Disease Day because I never thought a rare disease would be such a  part of our lives. But, it is and to know our son, Bruce, you would never know he has Pompe Disease, a rare inherited neuromuscular disorder that causes progressive muscle weakness in people of all ages. He is blessed with an early diagnosis and available enzyme replacement treatment (ERT) that he will receive for the rest of his life. Not all people celebrating Rare Disease Day are able to say that they have treatment, let alone a name to the disorders that affect them or their families.

Bruce met with his cardiologist yesterday and keeps getting great news....NORMAL. To think that when he was only 3 days old with the diagnosis of hypertrophic cardiomyopathy (HCM) and we were desperately trying to find out what caused it and if he was a candidate for a heart transplant that today we can say he has a normal heart! That's a miracle if I have ever seen one! He will continue to stay on his heart meds for now but only because he has a history of fast heart rate episodes (SVT) -- not because he needs it for anything else. 

To have answers to all the questions we were faced with in the beginning of our journey is simply amazing. We have learned that Pompe disease caused the HCM and regular ERT treatment would help correct it. The genetics team never said that it would actually correct it altogether and we would see results so quickly...but when Bruce was two months old we had the first NORMAL heart results and ever since, he hasn't looked back but kept on keeping on. The cardiologists were reluctant at first to say it was the treatment but I think after the last 7 months, they are slowly becoming believers :) We sure are!! 

Bruce's second medical dilemma was the CNS brain abscess from bacterial meningitis when he was 2 months old...just as we were getting used to the idea of Pompe disease and all the treatment! The abscess was hard on the little guy but he was a trooper and has healed great. Our last appointment with neurosurgery was before Christmas and had great news that the abscess was nearly disintegrated. His VP shunt for the hydrocephalus is working great and we were clear for 6 months with out another checkup. We go back in May and hope it's just a routine visit!

Last month we met with neurology for the Infantile Seizures that the abscess caused and she kept him on his seizure meds. We have not seen an episode since Thanksgiving and go back for yet another hopeful routine visit in April. It's too early to tell what damage has been caused in the right front lobe when the abscess was but time will tell and if I have heard it once, I have heard it a thousand times -- babies have so much plasticity and he should be just fine!

Things we watch out for for signs of damage are his controls and functions. Eating has still been a challenge but thanks to the gastronomy tube and momma's good (mixing formula) cooking, he's putting on weight just fine. During the day when we aren't on the road for appointments, he get free choice at bottles (all that leftover breastmilk I worked so hard on pumping when he was in the NICU!) and during the night he gets hooked up to his pump. Otherwise if you see us rolling in the stroller at Children's Mercy we look like a food cart -- Bruce on his pump and momma's cup holders full of diet coke and coffee! 

Physically wise, he looks like a 2 year old he's getting so big! He's nearly 30 inches and just shy of 20 pounds. Long and lean like his daddy! He wears anywhere from 18-24 mos clothes even though he just turned 9 mos old. They vary so much anyways. Developmentally, he's in the 6-7 months range. Rolling over is SOOO CLOSE and he can sit briefly without support. He loves to mimic tongue movements which I am sure will come in handy one day when he learns to pick on siblings (no, not even close to that yet :). And he is a great little helper when it comes to medicine time and feeding time -- he thinks he can grab all the syringes and tubes himself......yesterday he was insistent on helping with the EKG and echocardiogram and the little old nurses thought it was too cute...Geesh, he's already winning them over with his charms. 

And that's where we stand on our first ever Rare Disease Day! I am blessed to be momma of this little boy and we will continue to be the best advocates we can be as his parents! So many people are affected by rare diseases and do not have the treatments they need and yet they are even more positive than we are....those are my true heroes in all of this. I have changed so much personally in the last 9 months; rather than seeing a sick child and saying a quiet prayer and walking on the far side of the hallway, I want to stop and talk to them and their parents and get to know their stories. I am not intimidated anymore of the 'taboo' Children's Mercy Hospital filled with illness and sadness yet cheerful and hopeful for all of the patients and their doctors who work so hard. God has a plan for all of us, that I know. He shows me mine everyday! 

Thank you to everyone who has supported us in our journey and continued keeping us in your prayers! Bruce hasn't been fortunate enough to meet most of you but I hope that will change soon!