Don't go breaking my heart…

I feel like I have so much to write about our road with this disease and I guess part of me just has to continue to surrender to this all. I'm starting with this post. I feel utterly lost and so uncertain at times when it comes to Mac's diagnosis. I worry about his future. I'm sad because my son will be limited. I don't want him to be limited. HE doesn't want to be limited. It sucks! Yes, I know it could be worse. Please don't be confused by my honesty about my feelings on this (and future) posts, I am very aware and thankful for all of the blessings we have been given.

I have joined several "parents of rare disease" and "parents of kids with neurological disease" and "PMC" type groups on Facebook in hopes of finding support and information. The "parents of…" groups leave me not wanting to share and feeling guilty for my emotions about our diagnosis. They are amazing warrior parents, but some of those parents (and kids) are living a hell far worse than mine and I think what do I have to complain about compared to that! The "PMC" groups are filled with very nice people who are happy to share their experience and knowledge of this rare beast. They have had this their whole lives and tell me over and over how debilitating it can be and when I ask questions related to Mac's worst symptoms that they are "normal" for the disease. I get sympathy because they obviously sense the level of anxiety I'm conveying with my questions… and he's so young to be having such severe symptoms already… and I'm warned that things could get much worse. Please don't get worse!

His good days are great. He's a typical 3 year old boy with very few symptoms that probably only his Daddy and I would pick up on. We LOVE those days! His bad days are terrible. He has ridiculous muscle cramps that cause him obvious pain. They tend to come in clusters so we know when he's had one that another is probably not far behind. The weakness follows. Sometimes it lasts for a few hours and sometimes for days. When is does too much when already weak he cramps easily. 

Today he woke up well after some major cramps last night before bed in his full torso and neck. He had his MyGym class scheduled and said he felt like going. I was guarded, but remembered the neurologist telling us not to limit him… so we went. It started out fine and ended terribly. He had obvious trouble by less than halfway through and sat himself out when he physically couldn't even function any more. I carried him because his legs were weak and his hand kept contorting in cramps. His eyes kept wandering because even those muscles were weak. When we got home he didn't have the power to walk up the 3 steps into the door and fell. He tripped walking into the kitchen because his legs were dragging. He asked to go to bed and I carried him up the big flight of stairs because he asked me to. He didn't nap, but played quietly in his bed. Nap time was an easy excuse to lay still and be quiet which is what he needed and we both knew that. I listened over the baby monitor the whole time in case he needed me. This is the reality of our "bad days". On these days I'm thankful that he is still light enough for me to carry easily. What will I do when he isn't? He had been so thrilled to have his own "gym class" to do. Today when we left he said, "I don't want to go back". I'm counting on him changing his mind by next week, but worry that someday he won't change his mind. I worry that someday he will just quit something that he loves because his body has failed him. Again. Please don't ever quit!

When he cramps badly he cries out and I do my best to comfort him and help "rub out" the cramp. When the cramp ends he stops crying and when he isn't looking the tears keep coming, but from my own eyes. My chest and throat gets tight and I feel pain too. My "Monny" heart breaks on these days.

When he has a "bad day" I do too. Today is just one of those days. I'm hopeful for tomorrow.

*****

Sidenote: I contacted the MDA today (in tears) in a desperate attempt to find a local support group of some sort. It turns out that Mac and our family will be eligible for so many things that they offer that I never knew about because they support all neuromuscular diseases. They were shocked that we weren't put in touch with them as soon as we got the diagnosis. This is a kid who turned blue on a nearly daily basis as an infant and we just rolled with it and mentioned it at the next doctor's appointment. The doctors have (mostly) praised our laid back attitude and just said over and over to reach out if we need help. I guess I need to start reaching out more often. I have clearly only seen the tip of the iceberg of navigating the world of having a child with a rare, somedays fully debilitating, disease. 

Diagnosis, Paramyotonia

Today we went to Cincinnati Children's Hospital for a follow-up meeting with Mac's neurologist. Joining us this time were the attending neurologist and a geneticist. The topic of discussion was the findings of Mac's recent genetic test that showed a mutation of his SCN4A genes. His particular mutation is even more rare than the usual mutations found in this rare disease. We've been told that his specific mutation has not been studied or documented. He's one in a million, as we've always known. ;) The geneticist believes, based on Mac's current symptoms, that a diagnosis of Paramyotonia Congenita (PMC) is a fair thing, but has warned that not knowing how his mutation progresses he could very well have symptoms that go along with other aspects of Periodic Paralysis (PP) in the future. We just don't know. We know we have the right diagnostic "family" though.

So, let's start with what we do know:

*This is a VERY rare disease and his particular mutation is even rarer.

*It is a lifelong disease.

*There is no cure currently.

*There is no treatment currently. (Although there are drugs that can be used "off label" to treat symptoms in some people.)

*There are multiple possible triggers that can vary from person to person. (We already know that stress, pain, adrenaline, lack of sleep, sickness, hunger, exercise, getting too hot, and cold are triggers for Mac.)

*There are often nutritional triggers related to Potassium. These vary by person. It could be levels getting too high, low, or even just minute swings within normal that trigger an attack.

*There are no cognitive delays or intellectual impairment associated with this disease. 

*It puts him at high risk for anesthesia (malignant hyperthermia). 

*He could have adverse reactions to other drugs as well.

*It is not a terminal condition.

*It is not considered to be a progressive condition although it may change over time. (Many forums with real life "patients" disagree with this claim and say it can be progressive so I guess time will tell.)

So where do we go from here? Well, we take it day by day. We (his Daddy and I) decided that we do not want to start him on any medications because frankly they are scary! We are not ones to jump to Rx drugs unless there is a clear need and benefit. At 2 years old we don't feel that the potential benefits outweigh the known long term risks of these drugs (Diamox and Tegratrol).  His doctors would have been willing to give him medications, but were in 100% agreement with our current decision. I am starting a detailed journal for his symptoms with the hope to pinpoint more specific triggers. We will do lots more research on our own. We will talk to and contact as many experts on this disease as we can find. We will follow up with the fine docs at Cincinnati Children's Hospital in about 6 months unless something major changes between now and then. And other than that we will continue to do what we've been doing all along: encouraging him to be the awesome self that his always is, navigating the typical toddler/preschooler transition, not limiting his physical activity until he does, trying to keep him safe in spite of being a 2 year old boy who's body sometimes doesn't work int he way he expects or wants it to, and just LOVE our amazing MIGHTY MAC!

Thanks for checking in!

~Mac's "Monny"

(Note: Mac's symptoms, history, and how we got to the point of genetic tests will be a future post. Many people with this disease go decades if not lifetimes without their diagnosis so we feel very fortunate. It was partly my doing that we managed a relatively quick diagnosis and the neurologist even wants us to write up how we got to diagnosis so that is can be published in a neurology medical journal to hopefully help other neurologists easier recognize and diagnose this disease. That is a story for another day though.)  

Want to learn more? Some excellent links: 

http://hkpp.org/physicians/pmc

http://hkpp.org/patients/pmc-faq

http://livingwithperiodicparalysis.blogspot.com/2014/05/paramyotonia-congenita-another-form-of.html

http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/907/viewFullReport

Also a great amount of information HERE