Friday, March 23, 2012

Our Miracle

*This will be a long post. But hang in there... you will become very educated as well*

The past 36 hours have been a huge whirlwind of emotions, stress, anxiety, you name it. Josh had two BIG appointments down at Primary Children's Medical Center. Not only is a Neurology and Dysphasia (Feeding) Clinic the two more stressful appts, but I knew this time would be different. I was going to need to ask the hard questions. I was going to ask about the things I have been afraid to ask. And I had a lot of Faith (along with a lot of prayers) that this would be a huge turning point for us with Josh.

And guess what?

Our Sweet Josh is a 'Pure Miracle'. The Neurologist said that word for word.

How could you not see that with this sweet face?

 So with that being said... here is the best news of all. WE HAVE AN OFFICIAL DIAGNOSIS!!!!!

We can now say with 100% accuracy that ALL of Josh's problems are caused by one thing. Microcephaly. Dr. Filloux has wanted to wait for Josh to get older and have had more MRI's and CT scans done, genetic testing done to rule out anything else before he gave me the official diagnosis. For those of you who don't know what Microcephaly is.... it means small head and brain. We have known Josh's head is small for years, but what we haven't been able to determine is how small his brain is inside. Basically he has some extra fluid space... meaning his brain isn't even as big inside his skull as it could be. It is still following some sort of a growth curve... so that is good. Dr. Filloux told me that he has treated children with bigger heads/brain size with more severe problems that Josh. He told me he thinks Josh is a miracle to be doing as well as he is considering how small his brain is. When he looked me in the eye and told me that.. I got all teary eyed and had goose bumps. I needed someone to tell me that.

So since this is so huge to have the official reason behind every.single.diagnosis/disorder that Josh has, I thought I would share with you word for word what Dr. Filloux said about Josh for me to take home and to the school district. (Bear with me.... )

Joshua has significant NEUROLOGICAL problems and conditions that is summarized below with the following recommendations:

1. Microcephaly: this means Joshua has a small brain size and this affects all neurological functions including behavioral regulation, social skills, language and communication, motor skills and coordination as well as appetite regulation, eating ect.. This is likely a genetic (Congenital Basis) and is NOT going to disappear. He will unfortunately require intervention throughout childhood into adulthood.

2. He has a congenital syndrome as yet unidentified. This congenital syndrome is associated with his microcephaly and other features most of which are neurological and derive from his smaller brain size and processing problems that result.

3. He has a language and communication disorder.

4. He has an autistic spectrum disorder.

5. He absolutely should receive intensive speech, language and communication therapy on a regular basis and should use assistive communication devices  and programs until native speech and language improve a great deal.

6. He needs ongoing Occupational Therapy for feeding and swallowing issues as well as coordination of both gross motor and fine motor skills, using pencil, drawing, and writing ect.

7. He needs intensive behavioral  therapy to help at school but also to guide parents with his behavioral interventions at home.

8. Physical Therapy for guidance on an occasional basis may be helpful as well.

9. These problems are not going to be resolved in a few years and he will require ongoing interventions in school, likely thoughout his entire childhood, but since he will be learning and developing he will require regular re-evaluation for educational and therapy needs. The above specifics however will be needed for at least the next three years.

So that is word for word what his Neurologist said. He also went on to explain to me this. Josh's brain is anatomically good. Meaning that he is not missing parts of his brain, or have any major malformations. He said that the 'electicity' in Josh's brain is messed up, and the connectors that make everything work in his brain and tell his body what to do... are missing. He said we know that they are missing because of his problems. Normal MRI's won't show that which is why he can't say for sure how bad it is. He said his opinion is that it's significant because all aspects of Josh's system are affected. We aren't going to pursue any further MRI testing at this time. We also are not going to pursue any genetic testing for a few years. His Microcephaly is Congenital... meaning he was born with it. We don't know why he has Micro... but we do know that is has caused every diagnosis he has.

We then had to talk about what I would have to say is the hardest thing to discuss. Prognosis for the future. This is what he had to say about that.

He foresees that by the time Josh is late teenager/early adult age, he will no longer have a feeding tube and will be able to maintain nutrition orally. He will be able to communicate (whether that be all verbal... or some communication device) completely independently. He said he is most concerned about Josh's ability to think, process and function independently. He thinks he will always need to live at home, or in some sort of a facility that will support him. He also thinks there is always a possibility that Josh will surpass everything we expect and do amazing. I vote for the latter:)

The only other thing we discussed about future was his opinion about potty training. He told me that he does not see Josh even remotely being ready to potty train for some time. He told me to talk to his GI doctor and Feeding clinic Team about their opinion.

So I did..........

This is the summary of that appointment....... Josh is stable now and they are happy with the progress he has made. His last appt 4 months ago Josh has lost two pounds and had not grown even a millimeter. They were very concerned. I had pretty much taken Josh off his formula and was letting him get all his calories orally. I wanted to challenge him and give him a good chance to do it on his own. We had given him 7 months. He dropped significantly on his growth curve and I was in hot water for it. So between that appt and 6 weeks ago... I still was trying to give him some time to do this on his own. But I realized after a ped. appt that he was sliding downhill and I had to step in and start the formula again. So we did. He seemed to start to maintain weight, but was having other issues. Josh has never done well with bolus feeds. (this means doing a large amount at one time). He has reflux issues and of course the severe constipation and NO motility through his system. So I made the hard decision a few weeks ago to put him back on 24/7 feeds. And I will be honest. It is not easy. But worth it. This time around though... I sent him with his feeding pump to school, something I had been able to avoid until now. In the last 3 weeks he has done so much better that I can't believe I have drug my feet for so long about this. Nothing is worth putting his health in jeopardy. I don't know why I did it. GI doesn't give me these options...they disagree. But with not knowing what was really wrong with Josh... I just would get in denial sometimes. So now that he has grown 1.4 cm and put 3 pounds on... he is stable. And they are happy. He is in the 18th% for weight ... and the 21st% for height.

And once again we had the future prognosis discussion. Dr. O'Gorman told me that I am NOT allowed to take Josh off his 24/7 feeding schedule until next summer. Not the summer of 2012.... the summer of 2013. And I do get it. Now that I know what is going on with Josh... and knowing it could take years for things to slowly improve... I do get it now. So I will follow her recommendations to a T from now on and not try to undermine what she tells me... just to 'see' what Josh would do. We also talked about her opinion of potty training.....or lack of. She told me that not only does Josh have significant neurological problems that are going to make it really hard for him to potty train, but he has significant GI problems as well. She said point blank, "he has a LOT stacked up against him in this area". Even if he had NO Neurological problems... the GI problems alone would make it really hard for him to potty train. She told me to not even entertain the idea for a year and maybe we can talk about it again next spring. But she admitted she thought that was being extremely optomistic. And honestly... it was like a load was taken off my shoulders. I have thought many times... what if I am just being lazy and if I put a whole lot of effort... maybe he could get it... maybe? Maybe? Although I have no idea how someone who doesn't really seem to know body sensations would 'get it'. But now I can just put it out of mind and keep chuggin along on what we can do for him. And I did get some good news as well. Seeing that Josh wears a size 6 diaper (he will be 5 in 3 months afterall) and most brands don't fit well... and those that do leak bad anyway (that is what happens when you have a total of 1530ml of fluid a day going through you) we are getting set up to have diapers from Home Health Care from now on. I am so relieved to get this going. I was wondering what the heck we were going to do as I was sitting there realizing that we could be using diapers for a long time still....and we are at the biggest size. Now I know:)

So as I have processed everything I learned yesterday, I have realized what I miracle boy we have. Already he has overcome huge milestones and I know he will continue to do so for the rest of his life. All the therapy appts, doctor visits, hospital stays, surgeries/procedures and dealing with this blasted feeding pump 24/7 again is worth it when I look at my sweet miracle boy. How could you not love this face?

And on a side note: I got some more good news today. I met with the school to do Josh's transition meeting. Meaning we decided where Josh was going to go to school next year. I was worried that I would have to fight the school since I have been doing that all year. But it was a great experience. I went in thinking I would have to fight for him to go to alternative Kindergarten.... where Trevor went. It's slower paced classroom with smaller class sizes. But Josh is actually going to a self-contained classroom instead. It means that he will have his own curriculum and not a set one. He will work at his own pace and on what he specifically needs. He will have a nurse around more to help with meds and feeding pump issues. A PT and OT will be in the classroom most days.. as well as speech. And the self contained class goes clear through high school. He will move around a bit classroom/school wise, but this option will get him through his entire school life. I had no idea that this was an option. The district liaison that I have known since Trevor was 3, is amazing. I am soooo happy to get to deal with her again. She does amazing things for these kiddos that need more help. She told me that Josh is quite a bit more severe is his disabilities which is why he needs this and since Trevor has done better with all his intervention... he didn't qualify for this option. So I feel 100% comfortable with the decision and that Josh will FINALLY get what he needs. FINALLY. He deserves it.

We sure love our miracle boy!!!!!


Desiree said...

Wow...what a miracle. So glad you have a diagnosis. Can I remind you of what an amazing mom you are? Seriously.

Tanya said...

Wow. So many good things! I'm so glad you had all these appointments and that the school thing went well!!! I'm also glad that the neurologist was able to give you so much information! I'm so happy you have a diagnosis, I know you have wanted to know, for a long time.
I can't believe Josh is nearly 5....!!

Brittany said...

Glad you have some answers. He's such a cutie

jennohara said...

Holy mackerel! What a handsome little man you have there! My Hanna has microcephaly, so I have a soft spot for special littles! Sounds like you got a lot of good news, and I know how amazing that feels. Nice to "meet" you guys!