Home. Home at last. These past couple of months have been mind-numbingly busy. Both in good ways and bad.
In November we had Thanksgiving with extended family in central Wisconsin, I got nearly all of my Christmas shopping done and I got the first half of the kid’s insanely overbooked appointments scheduled. The goal was to get all the lab tests, necessary procedures and post-surgery follow-ups done before January when our deductible started over.
December was, and has yet to be, much busier. A lot of the November appointments got pushed back to December and I found myself scribbling furiously over our marker board calendar trying to organize appointments together. Even with all of my planning ahead I still ended up at Children’s more than once a week with all three kids. I was on the phone more often than not, all but begging the receptionists to do everything in their power to help me get the appointments scheduled before the end of the year. One nice thing about going to Children’s regularly with three adorable and well-behaved children is that they’re remembered. They open doors for me that should otherwise be closed. When I mention I’m the mom with the twin girls and big brother they saw last week it suddenly sparks a friendly conversation and the receptionists will, by some miracle, find an opening by any means necessary.
This past week was my “healthcare hell week”. I got pretty much every remaining appointment scheduled for this week. I had each of the girl’s well baby appointments with their regular pediatrician (Peanut and Bear), their Genetics follow-up appointment (peanut and Bear), overnight brace fitting at Hanger (peanut), physical therapy (peanut), an EMG (peanut) with neurology which if the results come back bad would lead to a muscle biopsy. The muscle biopsy would require Peanut to be sedated and intubated. Basically, another surgery.
I had all of that between Monday and Thursday this week, with the possible surgery pending for right before Christmas.
We had the well baby appointment. Everything went over well and we ended up visiting with four of the five pediatricians in that clinic. Because of Peanut’s extensive healthcare history we ended up in the clinic fairly often and got to get to know all but one of the pediatricians pretty well. The great thing about that is that they all confer with one another on bigger issues before referring Peanut to a specialist. My pediatrician is more of a cautious “better safe than sorry” type of person, another one is a more casual “I trust that you’re capable, so I’ll give you the necessary tools to take home”, another one is fluent in any and all rashes, birthmarks, infections and so on, and the last one is fluent in any and all illnesses and is incredibly thorough in his evaluations and makes sure the parents understand everything about a pressing issue.
It really worked out well because Peanut ended up getting roseola immediately after her immunization. She woke up the next day with this widespread rash over her whole body. I was scared it was a reaction to her immunization and called and talked to the phone nurses. They talked to my pediatrician and she suggested I come in to see her. When that didn’t work out I ended up seeing the “rash specialist”. She took one look and immediately knew it was roseola and said there was nothing to worry about. *whew!*
We had a follow-up genetics appointment this day. I didn’t know really what to expect besides a retest of their MMA levels.
It turns out that the girl’s geneticist is doing a study on mitochondrial DNA (mtDNA) depletion and how it affects a few specific disorders. From what I understood from our conversation, while there are 9 genes known to affect mtDNA depletion, only 20% of those specific disorders have been connected to those genes. This leads him to believe there are yet more undiscovered genes that could be affecting mtDNA depletion.
In simpler terms, he’s attempting to discover new genes.
He asked me if I would be willing to let him use some of the skin from the girl’s skin biopsy as a part of his study. While it’s a stretch that the girls could benefit him in his study, he may yet be able to get a lead on why the girls have a b12 deficiency. So the girls are now officially part of a breakthrough study. Sweet.
Then he went on to tell me that while he’s doing research on their skin cells, he has gotten in contact with a world renown Geneticist in Maryland that is currently researching Methylmalonic Acid (MMA). They apparently talked for over an hour last week about the girls and this geneticist is very interested in the girls. He is doing study on people between 2 and 70 on their unbalanced MMA levels. Once the girls turn 2, he wants to fly the girls and I out there to talk to me about inserting them into his study as well.
Obviously I’m aware of the adverse affects of testing directly on people when there is no history. I won’t allow the doctors to test directly on the girls, but I’m happy to let them draw blood or use skin samples on occasion if it means benefiting them and thousands of other people in the long run. I don’t expect to be asked for anything serious, but if I am, I will most likely refuse. I will wait until the girls are old enough (18 most likely) so they can make that decision on their own. They will still be well within the age range and more capable of tolerating testing.
During all of this talking, Buddy was starting to get very bored and started trying to play with the doctors and students in the room with us. Finally one of the counselors asked me if I was okay with him taking Buddy “Christmas shopping for a toy.” I laughed and said sure. About ten minutes later they came back in the room with a brand new set of ‘Cars’ themed bowling pins and balls, freshly wrapped and ready to go home with us. I gaped at the counselor and asked him if that was seriously a gift for Buddy. He laughed and said yes. Apparently they give every family one gift to go home with around Christmas. Buddy was standing proudly in the midst of all the nice doctors showing off his enormous new gift.
How awesome was that?!
This day I knew would be difficult no matter how I looked at it. Peanut had to get both a surface and intramuscular EMG (electromyography). They said it wasn’t going to be pleasant for Peanut from the start and we exhausted every single other resource before we resorted to this. She had gotten an EMG a few weeks after birth as a premature infant still in the NICU. The results came back abnormal for her legs, and slightly abnormal for her arms as well. What worried us all was that she would possibly have a degenerative disease if her arms were also moderately weak.
As much as we hated the idea of putting her through another EMG, we needed answers. We needed to know she didn’t have a degenerative disease. We needed to know if she would ever walk again. We needed to know if there was any muscular activity anywhere in her legs. When we couldn’t get answers by any other means, we decided to have another EMG done on her now that she was older. Our hope was that the abnormal reading in her arm was just because she was premature and not fully developed yet.
We arrived and got set up. They were going to do both her left arm and left leg. From the very start my heart was broken and my wits were at an end. From the very first shock she was crying and inconsolable. She looked between me and the doctor that was performing the EMG, her eyes begging us to stop the hurt. She was so scared and confused. It was honestly one of the hardest things I’ve ever had to witness. It took a lot for me to try to stay strong for her and console her. Even in my strongest moments I was crying. After awhile she wasn’t crying anymore, but screaming and shaking. They only had to touch her arm and she redoubled her crying before the shock even came.
The shocks came in a series of about 3 or 4 shocks every 20 seconds or so. That went on for about an hour and a half with a couple of breaks in between at my request. At one point, she stopped crying and just laid there silently while she was getting shocked. She would periodically flinch, but besides that, she laid there quietly and calmly as if she knew fighting it couldn’t make it stop. She just looked at the doctor with wide, sad eyes. She was being so strong. To quote something I said to my friends, “No nine month old baby should have to be this strong. No mother should have to watch something like that. It was horrible.”
Then came the intramuscular shocks. They had a needle connected to the machine that they inserted approximately half an inch into her arm and leg and recorded the shock from deeper within. The needle wasn’t as big as a blood drawing needle, but it wasn’t nearly as small as I was hoping either. They had to stab her with the needle four different times on both her arm and leg.
When we finished I scooped her up in my arms and she grabbed on to me and stopped crying immediately. She pulled herself into me as much as she could and buried her face in my arm. Her grip on me was as strong as steel. She wasn’t letting me put her back down for anything. I was so sad. All I could do was sit there and hold her and comfort her. My poor little girl.
Thankfully I got the result right away. Her arms were normal. In fact they were responding amazingly well. Her legs, as I’m sure you already assumed, were still abnormal. The sad thing is that her paralysis is so complete that they found almost no reaction to the shocks at all. Her legs are almost all fat. There are only a few muscle fibers to go off of. Because of the absolute lack of any muscular response, they’re positive that she will be in a wheelchair the rest of her life. This result didn’t surprise me, but it was still hard to hear.
Because they’re sure that her arms are so strong, they decided not to do the muscle biopsy. That means no surgery right before Christmas!
They’re also unsure whether or not she will be able to control her bowels or bladder because of limited muscular response in the area. This is something we will have to wait on until she’s older and can tell us herself how well she can manage it.
The good in all of this is that we are now positive that she doesn’t have a degenerative disease. The fact alone that her arms have improved is a very strong reassurance. Besides that, everything above her hips is functioning perfectly. She is progressing amazingly well cognitively. This means she will still be able to be independent one day. She can still go on to college if she wants.
I asked them if they had an official diagnosis for her, if there was a name for what she has. After a lot of thought they admitted there wasn’t really a name for it. What they came up with was ‘Fetal Neuromuscular Aplasia’. It’s not really a specific disorder. It’s what happened to her in utero. Her nerves and muscles, for some unknown reason, stopped developing in the womb. It could be because she’s an identical twin (which we don’t know for sure) and when the cell split something ‘goofed up’ in the genes, it could be because of crowding in the uterus between her and Bear, it cold be a number of different reasons.
I also found out that it’s most likely not connected to the B12 deficiency, and it’s incredibly unlikely that anything similar will affect any future children if we choose to have more. I can’t begin to express my relief on hearing that. I felt like we had taken such a huge risk in getting pregnant twice and possibly doing something to Buddy or Bear as well. Now I can have peace of mind. They were always safe, it wasn’t our fault. What happened to Peanut was, in all likelihood, not our fault. It just happened.
Now, I’m just happy that I finally know something. I’m happy that I finally have something to call it. I’m happy that I don’t have to worry about her life expectancy. I’m happy that I feel like the scariest stuff is coming to an end. I’m happy that we’re finally getting somewhere.
We were supposed to have Physical Therapy. I called and cancelled saying that Buddy is still sick and frankly I’m just over my head right now. Peanut’s PT is awesome. She laughed and said that’s fine and she’ll see me next week so long as I promise to keep up with her stretching routine. Done.
As of Wednesday, we’re done with surgeries, procedures and appointments for the year. Our next appointment is next March! From there on it should just be annual appointments with each of our clinics. I’m sure we will still be there more often for accidents or random things, but it still feels so incredibly good knowing we’ve got the bulk of the legwork out of the way now.
Yet to come:
The nice thing is that after all of this pandemonium, we only have dinners, play dates and Christmas celebrations left. All of the fear and negativity is now behind us! One of our extended family Christmases is this Saturday. The only downside is that it’s a two-hour drive to get there. It will be nice to end the healthcare hell week with a family celebration.
That Christmas is one of four different days of Christmas Husband and I will be celebrating. The first being our “Chicago family”, then we’re having some more immediate family over on Christmas Eve for church, dinner and a gift exchange at our house. Then Christmas day is our personal Christmas, then the day after Christmas is Husband’s extended family Christmas at his parent’s house back home.
I think normal people would balk at the amount of Christmas celebrations and driving. I know Husband does. But I love Christmas. I have always loved winter and snow. I think I love it this year more than ever. I need an excuse to celebrate and be with family and friends. Now more than ever.
I should quickly note that I’m seriously disappointed that we haven’t had a single recordable snow in our yard yet this year. Frustrating…
Well then, there you have it. That’s what I’ve been up to these past couple of months. I wish I could have had more time to post blogs, but obviously my family, and moreover my sanity, comes first.
I hope you all have a wonderful, safe and happy holidays! Cheers to a happy ending to a rough year.