Maya was about 5 1/2 months old (June 2008) when I was playing with her on the couch and noticed that she wasn't bearing weight on her legs anymore (standing/jumping on my lap). I was telling Charlie and we were both concerned, but not like headed to the hospital, you know? We decided that her 6 month visit was coming up in 2 weeks and we could ask Dr. Bhakta then. Besides, she was learning how to sit unsupported at this time. 2 weeks later when we visited the pediatrician and asked about Maya not bearing any weight on her legs, he just said that she was probably just being lazy and likely going through a phase. He said that since she was sitting now, she probably enjoyed that more and just didn't want to stand anymore! So, Charlie and I walked out of there like it was no big deal.
I can't remember now what we thought about Maya's not bearing weight over the next couple of months. I mean, did I notice that she also stopped kicking her legs - probably not when I should have. I blame myself alot for not noticing everything, but she is in fact our first child and how were we to know what to look for, right? The main concern from mid-June to late-August was her (sorry to say) constipation. We literally fed her prunes everyday for like 2 months. It didn't help her at all. We were giving her juice, but only the recommended 4 oz per day. We felt so bad for her because we could see her straining. I was afraid she was going to pass out some days because I saw how red her face was getting. I decided enough was enough and called Dr. Bhakta for some constipation support the last week ofAugust. He called me back to discuss and told me to give her 8 oz of juice per day. Anyway, at this time I also mentioned to him that Maya was not bearing weight still on her legs. He was very surprised and immediately concerned. He told me to get in touch with Early Childhood Intervention (ECI). I think this was a Tuesday.
The next day, Wednesday, I was at work and a colleague of ours was visiting with her newborn baby. She was changing her diaper in our office and told us to come and check out her daughter's anal dimple (which was superficial). She was telling us about how this dimple could potentially be really bad if not checked out. My initial thought - Maya has a dimple there, too! I told her about it and she told me to see the pediatrician. That night when I was putting Maya to sleep, I turned her over and sure enough, she had this sacral dimple. I immediately got on the internet as any mom would do. I found a few articles that suggested a correlation between the sacral dimple, constipation, and weakness in the legs. It could be a tethered cord. I was so scared and stayed up late that night wondering about what my Maya was going through. First thing the next morning I called the doctor's office. I told the nurse I was very concerned and she agreed that we should come in. I literally was in their office within the next 2 hours (didn't want to wake my baby up from her nap!). Dr. Bhakta wasn't there that day, so Dr. Irani checked Maya. She was convinced it was "superficial" and said Maya was just fine. I had a huge sigh of relief.
Meanwhile, next week (1st week of Sept 2008) ECI made their first visit to see us and do the Intake. I remember my brother calling and I was joking with him about how I freaked out about the dimple and it was nothing. He was like, no, the pediatrician shouldn't have said nothing was wrong. She should have ordered an x-ray or at least some testing. That immediately got me concerned again. That is when we decided to get things done using the backdoor. My brother called Kalpesh, who is his closest friend working at Texas Children's Hospital. Kalpesh tried ordering an ultrasound just to find out that an US could not detect what we needed and an MRI was needed. Stupid me was like, ok, so let's get an MRI. Afterall, I've had two of them! My brother informed me that Maya would have to be put under (sedated) for an MRI. Not cool. We needed to get Bhakta on board. I called Bhakta and explained our concerns to him. He asked me to set up a consultation after hours with him to evaluate Maya's condition. This was Sept 22, 2008. After the consultation, Bhakta was convinced Maya should have an MRI. He put in the orders, but we were told 6-8 weeks waiting list. He was persistent about calling back and they apparently moved Maya to the head of the waiting list because we were able to get in Monday, Sept 29th for her MRI. I have to make a note that whilst this was going on, Charlie was in the thick of tax season and shortly after, headed to New Delhi for a tax manager conference. Luckily, he was back in town for Maya's MRI.
Here the timeline starts:
9.29.08
Maya had her first MRI of her spine to test for tethered cord. She was deeply sedated, using propofal. She had an IV in her and was monitored by a doctor/anesthegiologist the entire time. She was not given any pain medication for the IV and we were very upset because Maya did not do well during the IV stick. She recovered very well from the anesthesia with no side effects.
The MRI came out fine and her spine looks good, except they incidentally found a mass in her liver and recommended getting an ultrasound of her abdomen. We were so relieved about the spine, but now we were onto new worries. We still needed to meet with a neurologist though to find out why Maya is still not bearing weight on her legs.
10.3.08
Maya's ultrasound of the liver confirmed there is in fact a mass. The US technician recommended we get another MRI/CT to identify what this mass is. They said it is basically a tumor. Our hearts dropped. I couldn't believe what we were hearing. On one hand we were happy that nothing was wrong with her spine, but now this. We couldn't help think this was the reason she was to have that MRI and any day now she would start standing, crawling!
Dr Bhakta put us in touch with a liver specialist, but this is when my brother got his friend, Kalpesh, involved. Kalpesh is a GI doctor and practices with Dr. Krishna, a pretty well-known GI doctor in Houston. We set an appointment for Oct 13th.
10.10.08
Appointment with Dr. Zeller, chief neurologist at Texas Children's. Zeller says Maya passed all this "tests" except the weight bearing. He rules out cerebral palsy and muscular dystrophy. He tells us to continue with ECI and he will see Maya back in 4-5 months. He ordered a CPK blood test, which is a test that can determine if muscles are deteriorating.
I remember how relieved Charlie and I were leaving his office. We were smiling ear to ear thinking our little baby just had a developmental delay. True, we had other concerns now with the liver, but it was clear to us from Zeller that we didn't have any life threatening issues to deal with here.
Maya continues physical therapy with ECI, however, the therapist continues to raise concerns as to when Zeller will see Maya again (i.e. why is he waiting so long). She seemed very concerned that Maya was not doing well and although she didn't tell me, I knew she was thinking we needed to go back to the doctor.
10.13.09
Visit with Dr Krishna regarding Maya's liver mass. Before this visit, we were lead to believe that the mass was likely harmless and nothing to worry about. After the visit, I was basically in tears. Dr Krishna knew I wanted all the possibilities and looking back on it, I should have told him to keep it to himself until we needed to worry. He had ordered some bloodwork prior to the visit and all but one came back negative. The last, alpha feta protein (AFP) was not back yet, but this was the main one we were waiting on. He said depending on that bloodwork, we may or may not need to have additional imaging. He went on to say that there could be various things going on: 1) it could be benign and we would do nothing with it, 2) it could be benign or malignant and would need to remove it and/or treat it if malignant. These were words we were not prepared to hear. I mean seriously, cancer?? It just couldn't be.
He shared the results of the CPK test and said they were negative. Another sign of relief that nothing was wrong with her muscles!!
10.27.08
AFP test results were FINALLY back after 2 very long and anxious weeks. Everyday was an eternity.
Maya's AFP level was abnormal. The nurse indicated that it was not so abnormal that indicated malignancy, but it was not within range either. Now Dr Krishna definitely wants to move to the next step, which was another MRI and possibly a biopsy. The will try to move up the MRI appt.
Dr. Bhakta called us back today and I discussed the results with him. He will contact Dr Krishna to discuss what all this means. Bhakta also suggested that we get the biopsy done via ultrasound or CT – suggesting that MRI not necessary for the biopsy. He will get back to us on that tomorrow.
11.03.08
Maya had her MRI of the abdomen to getting a better look at her liver.
During the wait I went up to talk to Maya's neurologist, Dr. Zeller. We asked why he didn't order a muscle biospy. He said that he didn’t think one was necessary at this point, he usually doesn’t order one until kids are 2-3 years old and he feels Maya needs to keep all the muscle she can. Then, we asked if he thought she could have SMA & he said no. I asked him to make certain and he said he was 1000% certain she didn’t have SMA. He did mentione that Maya could still have a myopathy and that it is too early to diagnose that. Even if we were to diagnose, he said there is no treatment. The thought of her having a myophathy was too much to handle. Looking back we didn't know that we would have been lucky it she had a myophathy.
11.04.08
Kalpesh called re: the MRI. We found out the MRI was pretty much no good yesterday and did not clarify any information for us. The images were not good enough to determine if the mass was “vascular” which meant filled with blood vessels or something like that. Determining that was going to give us the next action – biopsy, surgery, or some other means of testing and/or getting rid of it. The risk of doing a biopsy or surgery without the MRI is bleeding so that is why this scan was necessary. He said the next step would be a CT. This was incredibly frustrating. I can’t believe we had to put Maya through all that pain and anxiety yesterday and for nothing. I know this wasn’t done on purpose and we need to move on, but Charlie and I (and all the grandparents) are all still pretty upset because they didn’t have to hear her cry and scream yesterday.
11.07.08
Maya had her blood test for AFP again today. This was tested again to determine which way her AFP level is going (up or down).
11.17.08
Maya’s AFP (alphafeta protein) level has fallen. This was the same test that came back abnormal a few weeks ago that had us all very concerned about her liver. The levels are still abnormal for her age, but they are going down, not up, and that is a great thing. Next up, CT scan.
11.21.08
CT was scheduled for today, but after waiting over 2 hours we found out that the sedation was not ordered correctly. So, we starved Maya for hours & hours to not have anything done! We had to re-schedule the procedure for after Thanksgiving since they only do sedations on Thursdays.
11.26.08
Maya's ECI social worker called to say they were concerned with Maya's muscle weakness. They supported the idea of getting a second opinion from a neurologist. It was hard to hear that because in the back of my mind, I had a feeling something was wrong.
12.03.08
Sapna's aunt's friend is a neurologist at the Mayo Clinic, Dr. Kotagal. He reads Maya's neurology report & would like to see, however, he wants the liver issue resolved first.
12.04.08
Maya got a CT scan today. While she was under they took another blood test to get her AFP levels again since it had been almost a month since the last test.
12.08.08
The CT scan showed that the mass was benign. They refer to it as a hemangioma that will go away with time. They will continue to monitor it in the future. AFP levels went down again as well. Finally, the doctors were satisfied with the results and said the next step would be come in for a check-up in 6 months. Great news, but now it was time to focus on the muscles & getting an answer on that issue.
We called Dr. Zeller to tell him about the results of the liver tests & to tell him that we were still concerned about her muscle weakness. We asked if we should come in to see him & he said "no, I will see you in March" (which is when our next appt with him was). Obviously, we were not happy with his response & we decided then that we had to go to the Mayo Clinic. We couldn't wait another 3 months. We knew that after a week at the Mayo that we would have an answer. Knowing 3 months earlier may not make a difference in the diagnosis or the prognosis, but at least we would know what was wrong.
12.10.08 thru 01.04.09:
Corresponding with Mayo Clinic to setup visit for Maya.
1.10.09 - 1.17.09:
Trip to Mayo Clinic
1.12.09: Consultation with Dr. Nancy Kuntz, pediatric neurologist who specializes in neuromuscular disease. We did not see Dr Kotagal since Dr Kuntz is really the neuromuscular specialist. Kuntz did not mention what her thoughts were regarding Maya's potentional diagnosis. She confirmed the EMG and genetic test we would be doing on Wednesday. We had mentioned to her about Dr Zeller's comment about him being 1000% sure Maya did not have SMA. She didn't make any comments and looking back, maybe she did and I will still not seeing it. Afterall, the other neuro said she didn't have SMA.Later that night, I peeked into the testing envelope Dr Kuntz had sent us home with. I was curious to see what genetic test she ordered. I was shocked to see "SMN gene". Charlie was still positive and said she probably just wanted to test it just to rule it out. I wish that were the case.
1.13.09: Consultation with Dr. Tung, pediatric GI. Although we were satsfied with the results of Maya's CT and AFP levels, the Mayo Clinic likes to do their own tests and see their own doctors. Dr Tung reviewed Maya's images (which I had brought from TCH's records) and agreed with the Houston doctors. We discussed symptoms and she mentioned SMA. I asked her why she spoke of SMA and she said that was what Dr Kuntz was thinking Maya had.
1.14.09: Maya had her EMG this morning. She was put under sedation for the test. After the EMG, she had an ultrasound (for the liver again) and the bloodwork, AFP and genetic. Maya did well and recovered well.
We had already set an appointment earlier with Dr Kuntz to get the results of Maya's EMG, so we were ready to talk that evening. We heard the words we never wanted to hear. Maya has Spinal Muscular Atrophy.
...the remainder of our visit at the Mayo Clinic is a bit blurry now, but on Thursday, January 14th, we consulted with the PM&R doctor, Driskoll, to familiarize ourselves with the SMA standard of care (breathing, feeding, therapy, equipment, etc). It was a very hard visit and I cried through most of it. That Friday, we visited Dr. Kuntz again for Q&A and a farewell back to Houston....
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