New Waters

Tecpr2 and Kif1a.

6 months ago I would have looked at these strange symbols and had no idea what gibberish this was. Today though, those 11 characters form the mold of a very different shaping of my life.

I have sat on this for some time. Partly because it has taken awhile to start to gather my thoughts. Also because some part of me must have been hoping for something different.

For years we have been treating two of my beautiful little ones for weakness and tight muscles in their lower bodies. For one of them we attributed it to his premature birth, and the other we figured was just growing faster than her muscles, as she stretched lean into her preteen years. We had literally the best therapy team on the planet; their skill and knowledge just off the charts, combined with the loving compassion that has allowed them to become dear friends well beyond just therapists. When we moved out of Colorado though, we had to start over. It was a very lengthy process of finding a new primary doctor and trying to get the kids set back up in therapy.

It was the very first time our 12 year old girl had been seen by her new pediatrician. Honestly, I was expecting to walk in, explain we had been doing physical therapy for tight muscles and frequent ankle sprains, and be quickly ushered out with a prescription in hand to continue our weekly routine. This doctor took pause though. As she evaluated my girl’s tight muscles, and noted her brisk reflexes, she suspected something more. She did give us the referral for physical therapy, but she also sent us with a referral to be seen by a pediatric neurologist. I really hardly gave it a second thought. It was not uncommon for us to be sent to a specialist here or there, and after what we went through with our youngest daughter, I never minded an extra appointment just to give us some peace of mind.

We pulled her out of school early one afternoon to have our first trip to the Children’s Hospital to meet the neurologist. I was still limping along on crutches after hip reconstruction, my littlest guy was tagging along as usual, and I expected we would be in and out. After answering a slew of questions, the kind doctor with an accent I struggled to understand began examining my girl. He tested her reflexes again and again; reflexes I didn’t even know existed (did you know there’s one on your chin??). Back and forth he went, stretching and re-stretching the muscles of her legs that refused to soften. The room was mostly quiet aside from the occasional question, and the sound of my little guy playing with a toy dump truck on a nearby shelf. Then with a reassuring smile, the doctor said he needed to ask a fellow doctor a question, and he left the room. The minutes started to drag, and the dump truck had been abandoned for clingy questions of when we were leaving by the time the doctor came back in. He had with him a confident and no-nonsense woman who introduced herself as the chief of pediatric neurology. She proceeded to repeat some of the stretches and tapped reflexes again with the funny rubber wand. “Do you see what I mean?” our doctor asked, and immediately my back tightened and I was acutely aware of the thickness of the air I was trying to breathe. The chief doctor agreed with him, and our doctor motioned to my young son now curled up on my lap, and said, “he has the same thing.” At that point, even though it wasn’t even his appointment, the chief asked if she could look at our boy also, and she lifted him up on the table to engage his muscles and reflexes as well. And then she asked if she could check mine. My mind was whirling at this point, with a hundred different questions.

When the examination concluded, the youngest went back to perusing the shelf of toys and books, and the Chief of Pediatric Neurology turned to address us. She said, “in all my years here, I have only seen one other patient with these symptoms, and he had HSP.” She went on to explain that she would request a geneticist to come talk with us, then she bustled out of the room. I sat there wide-eyed, my heart pounding with a sense of dread. Our kind doctor went on to explain that Hereditary Spastic Paraplegia (HSP) is an extremely rare, inherited condition that causes progressive weakness and spasticity, most often of the lower extremities. He said that they would have to do a brain and spine MRI and some genetic testing to confirm, but clinically he was already giving the diagnoses of HSP based on his exam. He said we would need to be seen in the physical rehab department for Botox and AFO’s (ankle braces), and that we needed to increase the number of days in a week we were receiving physical therapy. He was so kind and gentle, and after so many harsh and busy doctors, it was such a gift to my heart that this doctor showed intense caring and compassion as he delivered the news that was about to change the landscape of our future. A woman from genetic counseling came up and asked me about a million more questions, and then we walked back out into the brisk gray to go on about our lives.

The approval for the genetic testing took for-ever, and once the blood was taken, it took even longer to get the results back. In the meantime we set about getting the MRI. The first time around my girl walked in brave, but when the icky contrast was pushed through her veins toward the second half of the scan, she got uncomfortable and wiggly and eventually they had to discontinue the scan. The second time we scheduled it, I requested she be sedated so she would be more comfortable for the two hours laying flat on her back in this noisy tube. If you have read my take on the MRI experience (click here), you will know it’s not my favorite thing, and I was feeling very protective of my little treasure, and a little sad they hadn’t sedated her to begin with so we wouldn’t have to go through this again. The second time we showed up for her brain and spine to be scanned, we got through the fear of another IV, and then she drifted off into a silly, giggly sleep while the great machine rumbled and clicked. After that it was a lot of weeks of waiting, and not only did the thoughts leave the forefront of my mind, but I truly started to convince myself that the results were going to come back fine and we were going to move forward grateful that this wasn’t going to be part of our story. I mean really, there has been more time than one that a doctor has gotten me all worked up that my kid has something serious wrong, and it’s turned out to be nothing. We’re good.

I’m sure by now you have figured out that we did not get that “nothing” report that I hoped for. We came back in to go over test results and for an official exam of the baby boy of the house, and received the confirmation that both of them have mutations of the genes Tecpr2 and Kif1a. My sweet babes, 0.5 in 100,000 people with this neurodegenerative disease.

Later I will share with you what we have learned so far and what the immediate future looks like for us. There has been grieving, but also hope and determination as we figure out how to best roll with this new challenge.

Determination is strong, joy reigns, hope is *always* here.