What the Hell…

Luke Segars

Luke is a gorgeous little boy, in fact he is not really ‘little’- he is really quite big for his age as many people think he is three. I guess this is quite a good thing as many children with his condition are small for their age. Anyway let’s write about how we came to understand his diagnosis and the journey we have been on…

December 2008

On December 4th 2008, my Mum had been visiting from Perth and had her bags packed and ready at the door for her trip back to Perth. We had had a wonderful time doing lots of Christmas shopping, sight seeing and spending quality time together. Then a call came from Luke’s neurologist, a doctor called Dawn Duane at Stanford hospital, I was really surprised to hear her voice as, Luke has had some blood taken for some genetic testing, a week or so before and as it was coming up to Christmas, the results were not going to be available till December 25th! All I heard was ‘I am sorry to tell you Luke has a rare genetic disorder……’ I honestly cannot remember much else of what she was saying – I was hysterical. My poor Mum, she was practially hysterical as well, but was trying to calm me down. I had to call Simon (my rock) and get him to call her back and talk to her about it. It felt as if someone had literally pulled a rug from under my feet. This was not in my ‘plan’.

I had felt that Luke was just a little delayed in reaching milestones and that really everything would be OK in the long run, that he was absolutely normal, and I was not sure what I was doing all these therapies with him as it would all be OK. Perhaps it was the ‘Aussie’, “She’ll be Right mate’ attitude that works well in most situations! I look back and wonder – did I have my head buried in the sand? Was I missing some major issue with him because of our trans-atlantic move?

I can honestly say it was the worst Christmas I have ever had. I did not know how to handle putting on a happy face in the day and being grief stricken at night. One night I cried so much I had bruises on my eyelids the next day – how weird! Everything goes on as ‘normal’ but now you really don’t know what the future holds and being in control of all aspects of my families life was very important to me. Now it was out of my control. An uninvited guest was sitting at my table and following me about.  Luke was 17 months old.

Before Luke was 17 months old…

So how did we get here? Well, I was chatting with my lovely friend Karen, who had lived and worked for the same Health Club as I  in Cambridge, UK,  (and co-indidentally now lives 5 minutes away from me – how great!) She also had a little girl who is 3 months older than Luke. I was asking her how babies in their first year are taken care of the in US, as I really had no concerns, but in the UK, I would have been able to take him to a  weeky baby clinic to have him weighed and checked and been able to chat to the health nurse about any concerns I may have had. Karen mentioned that babies are expected to have a check up every 3 months in their firth twelve months, so as Luke was six months old and we had settled into the house – I decided to get him checked.

Whilst he was not sitting at 6 months, I was not overly concerned, as Nathan didn’t sit till 7 months. He was not rolling about either – but he was such a pumpkin – it was no surprise. Anyway, the doctors appointment was a disaster! When she pulled him to sitting from a lying position his head had no strength and lagged. When she asked if he did this all the time – I had no idea, I just scooped him up from lying! She was concerned about his tone and his overall developmental delays, and then decided he should be checked by a neurologist. I just figuered it was US medical paranoia!

We then had an appointment with neurologist Dawn Duane, and she was great, but the appointment was difficult in that for some crazy reason we had Nathan and Rebecca with us. Dr Duane’s associate was really nice and seemd so positive about him. Then Dr Duane was called in to make the final assessment. We were all very upbeat, but in her final comment, she did not look very happy and said ‘well he doesn’t look very ill.’  It was a rather sobering moment in my mind. Then I really started looking and watching my Luke.

I noticed lots of little things. He did not move in bed at night. I would put him in his crib and he was practially in the same position in the morning. He would lie on his playmat and look and play with his toys and rarely cry or look at anyone running about.  He would not roll or move from side to side to reach for things. He cried when he was placed on his tummy. He did not seem interested or motivated by his environment. Dr Duane recommended physical therapy, an early intervention program was mentioned – but it was unclear who was responsible for coordinating the services. So in March 2008, we started PT with Lucile Packard Children’s Hospital, Luke was 9 months old.

At about this time – Luke started do a funny little thing with his feet – foot writhing (circling them). He did it all the time, usually when he was lying and playing happily. Off we went to the doctor for his 9 month check up and low and behold – she was not happy about his foot writhing, but instead of telling me she was concerned about seizure activity, she just said that we need to be seen by neurology and have an EEG and MRI done on him asap and the word ‘brain tumor’ was mentioned. I was freaking out by this comment. But everything happened so quickly. The following week we went in for an EEG – normal, and then 3 days later – he had an MRI and we saw Dr Duane a week or so later.  We actually took video footage of his foot writhing, just in case on the day he decided to stop doing it on the day of the appointment. Needless to say she was not too concerned about the foot writhing! Funnily enough it just stopped one day, never to return again!

Back to Dr Duane to review on May 16th, 2008. The MRI did show up some anomalies like extra fluid in the Sylvian fissures and frontal lobe of the brain, but nothing specific enough to require any further investigation. If course I was googling these things and was really no better off understanding what they meant, as was neurology! It was all really a wait and see kind of game. So were were scheduled to go back in six months. (November 2008.)

Well physical therapy went on, and we started at an Early Intervention program in July 2008, we visited a non-profit organization called Abilities United. It looked like it was a nice program, with 6-8 small special needs children. There was circle time, then the children would be swung in a blanket and then there were various stations set up for activities that promoted a particular skill set, for example, climbing on stairs for promoting gross motor skills. There was also parent time, so that parents got to meet separately and discuss any issues of concern and have coffee while a team of staff came out and looked after the babies! It was nice, but conversation did not flow very well at times, and me being me, felt the need to fill in the gaps!

Luke is One

Well July 23, Lukey was one and we celebrated by having a birthday party for him, with a BBQ and bouncy castle. I remember being so worried about him that particular day. Perhaps because it it such a milestone and he was just not able to do much, He could sit, for the most part, but could easily slide down. He didn’t seem to be really aware of any one around him. He loved playing in his play-gym, and didn’t seem to see or hear children screaming and running about him having fun.  I just felt overwhelmed. But when I look at some photos of him with Rebecca putting cake all over him, he is smiling and looking pretty happy and responsive. The next big think was walking. Would he walk?  It never occurred to me that he wouldn’t. Nathan didn’t walk till he was 15 months. From my reading on the IDEAS site many families mentioned that their children did not walk till they were 2. So crawling was the next thing to work on.

Our 12 month check up with the pediatrician went fine as really we were getting all the services we needed. The doctor did mention that we should have a blood test to check for any genetic or metabolic disorders because of his delay, but I chose to wait and discuss it with the therapists we were seeing.

We  started officially at Abilities United in September 2008, Luke was 14 months and we had an assessment in September 2008, the goals were set for Luke to achieve! Physical Therapy, Speech therapy and OT were all to be offered and paid for by the State, In reality, when I walked into that room I could not believe we were there. Most children had very special needs and a large percentage had Down Syndrome. I felt a little embarrassed that my child looked ‘completely normal’. I often wondered why we were there! I would leave that group often feeling relieved that my child did not have anything seriously wrong with him and that he was probably normal and going to be fine! When parents in the group asked what was wrong with him – I would just have to say ‘developmental delays’. I felt sad for those parents whose children and faced so many problems and many of them were not going to be going a away any time soon.

So back for our 6 month review at Neurology with Dr Duane. It was nice to have my mum come with me and be involved with the examination. It was a good session, but due to his ‘significant development delays’, he was standing on his own, but not yet cruising, and had only recently started crawling. He is not gesturing, or making significant eye contact. I knew that she was going to recommend blood tests, and I had decided that it was not going to hurt to have a look at the results – because of course there was nothing too be concerned about!  You know the rest…

Rx