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Cormac ‘Mac’ Michael Murray was born at St. Joseph’s Hospital on September 10, 2004 weighing in at 6 pounds 13 ounces. Mac checked out perfectly and we actually left the hospital in 24 hours…we were anxious to get home and begin our new life as parents!
Mac was a good baby – took to the bottle fine and was a good sleeper. He hit all his infant milestones and some of them even early…he started eating solids, sitting up, crawling. Mac did crawl commando style at first – then went to hands and knees – but this was common with infants we were told – and not once during his ‘infant’ time were there concerns of any sort. He and another little girl (Avery) used to push around the chairs in the infant room and his teacher at his little school (Mrs. Setsuko) called them her ‘geriatric infants’ since it looked like they were pushing walkers around – they were so cute when they did this. We were so excited to see him take his first ’attempts’ at walking!
As time went on the next few months…the first thing we noticed was the manner in which Mac really began to walk. We didn’t understand why he kept his knees in hyperextension all the time…and therefore he kept falling on his behind. Mac’s knees were always locked ‘back’ and he never got that toddler gait where a kid just ‘gets it’ and takes off. He had no balance. All of his little buddies were really moving fast – you never want to compare your children to anyone else’s – but there was something really odd to Mac’s gait and he clearly was not comfortable walking – he preferred to be carried and would only walk a bit – whereas the other toddlers in his class wanted only to walk and run everywhere – Mac would take about 6 or 7 wobbly steps and then fall on his behind and reach up to be picked up.
At Mac’s 18 month doctor’s appointment, we asked our pediatrician to watch Mac walk. This is something the pediatrician typically wants to do anyway at this appt – but some kids are later walkers and even if Mac was not walking at this point it would have made more sense than the manner in which Mac did walk. Right away, Dr. Crawford said yes – there is something up and he ordered x-rays of Mac’s hips and knees and referred us to an orthopedic doctor in Mt. Airy. We got in right away to see this doctor and basically the doctor mentioned something called ‘back knee’ (?) but truly wanted to wait until Mac was 2 to do anything further – the x-rays were fine and he thought still this just might be an awkward phase, etc. We asked him what, at 2, he would do different – and he said that if at 2 years old he is still falling a lot the next referral would be to a neurologist.
We left this office and made it about 2 weeks – then decided we live in a state where one of the best hospitals in the country is located – and we called the pediatric neurologist at Hopkins to schedule his appt. We also scheduled an appointment with another orthopedic doctor at Hopkins for a 2nd opinion. We could not bear to think there was something we could be doing at this point – we could not wait 6 more months to act. Mac was not really able to keep up at school and we wanted him to have wins when he walked – not falls.
At this point, we had little concern for his speech – we were again told it’s an individual thing and he was saying quite a few words just not babbling as some of his little buddies had begun to do. The walking was our main concern at this point still.
We got the appointment with the neurologist set...and in the meantime Brian and I started doing some more digging into why exactly he would need to see a neurologist – this still sounded strange to us – he was fine cognitively – just falling a lot. In our readings, we discovered a form of muscular dystrophy that we thought sounded exactly like Mac. We panicked. We called back and his (the neurologist’s) secretary could tell in Brian’s voice this was urgent – we did not eat or sleep for 3 days until we saw the neurologist – he fit us in last minute one afternoon – Brian was travelling unfortunately – but we still took the appt. of course to try and get some answers.
The neurologist at Hopkins sat with Mac and I for almost 2 hours…he did some physical examinations and some cognitive examinations…and the long and short of it is this is where he said ‘Make college plans – Mac has mild cerebral palsy and might walk a little funny the rest of his life – but he’s going to be fine – he does not have muscular dystrophy’ (there’s even a blood test you can do for the type of MD we thought Mac had but he assured us this test was not necessary). I called Brian on his cell since he was travelling and the doctor actually got on the phone to tell Brian the good news – it was not muscular dystrophy – it was still something (cerebral palsy) – but nothing degenerative. Mac passed all of the doctor’s 2 year old cognitive tests even though he was not even 2 yet. He did not seem concerned with Mac’s speech since he did have some words. As for the walking, this doctor told us Mac would ‘get better at doing it badly’ - and with the Doctor’s blessing we left his office with hopes of Mac’s walking improving at least to the point where he could walk more than 10 steps without falling. We left thinking he was on the cusp of ‘getting it’ – or at least as he said getting better at it! I should also mention that at this appointment the doctor said Mac’s heel cords were tight, a sign of Cerebral Palsy, and to work on stretching them - Mac did NOT like this one bit – we slacked off on stretching them once home since he cried and cried when we did it and we could not bear this. At the end of this appointment the doctor ordered MRI’s of Mac’s brain and spine – both of which came back fine according to this doctor.
The orthopedic doctor at Hopkins basically said the same thing as the orthopedic doctor in Mt. Airy – let’s wait and see another 6 months and then reevaluate – orthopedically he was ‘sound’ – the x-rays showed nothing and he was walking a bit – it was still a wait and see how his walking ‘shakes out’ type of thing as far as the orthopedic world was concerned.
At age 22 months, we had Mac evaluated by Infants and Toddlers – this is a free service that your county provides in order to get children the physical or occupational or speech therapy they need in order to enter school on time or find the school to fit their needs. Again, at 22 months (almost 2) Mac did well at this evaluation – we were so pleased! He used a lot of words, did some fine motor things even though his hands had begun to ‘shake’ at this point, and even ‘walked’ up a set of stairs with help from the handles. The recommendation of the county at this time was physical therapy once a week and occupational and speech once a month. The therapists would go to Mac’s school to do this. This made me nervous because Mac had a hard time with people he did not know – typical of a toddler I think – but it was bad – anyone he did not trust he did NOT like touching him. He actually did warm up to his 1st physical therapist Linda, who visited him at school weekly…but she was never really able to do true physical therapy – he did not allow you to manipulate his legs or anything – not even me or Brian nonetheless a new face. Linda brought in a nice new chair for Mac to use at school since he was not sitting up very well anymore on the ground and needed some extra support – and also loaned Mac ‘walk’ – his 1st and only walker which Mac loved and used for quite a while further down the road.
As you can imagine, dropping Mac off at his school started to get incredibly difficult for me around this time since I felt as though he was not able to do some of the things the other kids were doing. (Not that it was ever easy – I always longed to be home with the boys as any mom would). We were so blessed to find a school that took our family in with open arms from day one – it was a little Montessori school in Columbia called Love of Learning – we knew our boys were in good hands every day and were learning in a unique setting – no battery operated toys in a Montessori School and a lot of Spanish being spoken! So cool!
Mac’s new toddler room teacher was Ms. Rosa – she was patient, kind and nurturing – just like his infant room teacher Ms. Setsuko. Ms. Rosa did everything she could to help Mac and make every day a fun and successful one. I knew she was carrying him around all the time in the end even though she had 5 other toddlers running around and demanding her attention. All of the other wonderful children would get Mac a ‘work’ and bring it to him since he could not get out of the chair to get it himself – all of the other children were potty training but since Mac could not sit on the potty or walk to the potty or even tell you he had to go potty he was not able to participate – but we still got the ‘potty training’ hand out in our mailbox so we did not miss out on this exciting time for a toddler as we still believed at this point we are going to make this better. If he was too tired to go out to the playground for the afternoon time slot, Rosa or Mary would stay with him in the classroom where he was most comfortable. Mary was Rosa’s assistant at the time who Mac learned to love and trust as much as Rosa. Not one time did they say Mac was not able to participate or stay with his peers or anything – his school and the staff there were cheerleaders for Mac and hoped and prayed right along with us that somehow this was all just going to get better somehow – that he would be able to keep up with his peers physically and have his speech come on so we could all get through this. At this point the mild CP diagnosis was not making any sense, he seemed to be getting worse and we were getting frustrated – and sad.
I had been venting to my friend Elizabeth that it seemed like his walking was getting worse, still no speech really, lots and lots of meltdowns for no ‘apparent’ reason – she spoke to a doctor she works with, Dr. Marilee Allen, and she gave her the name of a doctor at Kennedy Krieger Institute who specialized in Cerebral Palsy – Dr. Alec Hoon. She said maybe he could get us some more answers or help or anything. We called to make the appointment.
Before this appointment with Dr. Hoon we had another appointment with the neurologist at Hopkins – it was a ‘follow up’ to the 1st appointment we had with him. At this appointment, he was still sticking by his initial dx of mild CP – and said we had 2 options to help Mac with his walking – a walker or AFO’s (ankle foot orthotics). At this appointment the doctor stretched Mac’s heel cords so far back that Mac never recovered the rest of the appointment and I almost threw up watching him stretch him – then when he tried to put him down on the ground after this to see if his walking was ‘better’ since he stretched him – Mac would not even stand up – he then said ‘he CAN walk he just doesn’t want to’. Yeah, right. Mac was wailing – I was crying - he was clearly in pain - but not knowing anything other than ‘doctor at Hopkins’ – we listened to his advice and continued to stretch Mac at home every night for 3 months even though he WAILED in pain – we thought if the expert is telling us to do it – it must be right – this must be helping him somehow. (At this point I was also eavesdropping in a support group for parents of kids with CP – and it seemed all of the kids with cerebral palsy liked being stretched, it felt good on their tight little muscles – PT was not like it was for our boy who could not stand to have his heel cords touched nonetheless stretched – we didn’t understand).
At the initial appointment with Dr. Hoon at KKI – he called in Dr. Naidu to observe Mac. It seemed to us that they were concerned about his gait mostly – studying it intently along with everything else – but could make no real ‘diagnosis’ based off of this – and scheduled a follow up appointment in a few months. We were sad, we were looking for answers at this appointment but we were so pleased at the attention shown to us that we were encouraged that these were the folks who were going to help Mac get better. We began to see Jennifer Swain for PT at KKI, she said from day one that if Mac did indeed have cerebral palsy it was unlike any case she had ever seen – and she has been at KKI for over 10 years. In ‘PT talk’ – she said “Mac does not present like a typical kid with CP” – she was not sure what was going on but did not agree necessarily with that initial diagnosis just based off of his muscle tone. She was so determined to get our boy walking…we were so happy we went to KKI.
At this point, we are home with our AFO’s (braces) – Mac will NOT even stand in them – he hates them – we got him to sleep in them for a few weeks…realized it was not doing any good then discontinued trying to put them on him. We are still stretching him at night even though he continues to wail. He is using his walker at this point and doing well with it – his ‘personal best’ was outside our driveway, then almost halfway around the circle in our neighborhood - a very proud moment for us – it was the furthest he had ever walked! Mac had also developed some serious tremors at this point…his hands shook so bad when trying to concentrate on something or do anything fine motor.
Our 3rd appointment with the neurologist at Hopkins was right around the follow up at KKI with Dr. Hoon. At our 3rd appointment with the neurologist, he still stuck by his dx of mild cerebral palsy but said we had nothing to lose by trying this drug called “L-Dopa” – it’s for a disorder or disease called Dopa Responsive Dystonia – I believe it is also used to treat Parkinsons. He said if Mac did indeed have this, after a week on the L-Dopa he would be walking. This was like dangling a T-Bone steak in front of a dog – are you kidding me???? GET US THE STUFF NOW!! The doctor said he could not recall how to get the dosage down to a children’s level – and since we were going to see Dr. Hoon at KKI the following week he could write the prescription since he remembered he was the doctor who did it in the past for him. At this point we guess this doctor at Hopkins was opening his mind to it being something other than ‘mild CP’ – but if he truly thought that then he was not aggressive in the LEAST at trying to help us get it resolved.
Our second appointment with Dr. Hoon at KKI was hard…he said that it was never a good sign for a child to lose milestones – Mac’s walking had significantly declined since our 1st visit at KKI. This was the first time we really got scared – the look on his face, it said so much more than what was coming out of his mouth. If, after this trial of L-Dopa Mac was still not walking, he wanted to have Mac come inpatient to KKI for diagnostic testing – get all the tests over with in 1 week and then move on from there trying to get to the root of the problem. We said OK.
Well, as you know, the L-Dopa did nothing, and as time progressed, Mac worsened on all levels. The speech never came on - the walking / balance got worse, he no longer liked to use his walker, he was having a harder time sitting up independently, and crying a lot. This was about when I told Brian I was done with work and could no longer leave my son knowing full well he was not happy and able to keep up with his peers. He was still hanging in there, and the days I peeked in on him he was smiling so big and playing and laughing! NOT ONE TIME did his school mention he had needs even though it was obvious his teacher was carrying him around everywhere. At this point, I had to quit work – my place was with my son. We had ‘planned financially’ as best we could for me to quit in the Fall of that year – but I moved it up 6 months one morning after a drop off when I KNEW something was not right. Brian said ‘OK’ not knowing what the future held for us – but also knowing in his heart I needed to be with Mac and that something was not right as well.
Once home, we were desperately trying to get the appt set up with KKI for the inpatient study – turns out our insurance denied us the appointment but Doctor Hoon said as long as we get his 2nd MRI done ASAP then between that and an eye exam we should know more. We scheduled the MRI and the eye exam – this was the beginning of our nightmare.
3 hours after we got home from Mac’s MRI appointment our phone rang – it was Dr. Hoon – there was a change in the white matter in Mac’s brain – it appeared he has some sort of white matter disorder and we need to do a lot more testing before we know what exactly is going on – it will be at least a month before we know anything for certain. Dr. Hoon said, knowing this day and age, that we can look on the internet for ONE DAY and then turn it off until we know more for certain – but look up ‘leukodystrophy’ and then turn the computer off. We were devastated. Not only were all 34 of the leukodystrophies equally as awful, we just could not believe the nightmare that was playing out before us and for our baby.
They needed to have blood drawn and urine samples in order to learn exactly what type was afflicting Mac – as soon as we got this done it would be sent out to the doctor who needed to test it and we would know then what we were dealing with – or what kind of leukodystrophy to be exact. Roughly 4 weeks later, we got a call from Dr. Hoon that they had ruled out all of the leukodystrophies except MLD – they needed more urine to be sure. If it was not MLD, Mac would fall into the group of ‘unclassified’ leukodystrophies…kind of like saying you have cancer but I can’t tell you which kind. We took his urine that night, it was a Friday – and it was shipped off on Monday. The following Friday, August 3, 2007 Mac was diagnosed with Metachromatic Leukodystrophy and this nightmare began.
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