A long and painful process

So after the disappointment in the ER at Cincinnati Childrens the anticipation of the neurologist appointment was weighing on all of us. After the first few minutes I knew that it was going to be different than every other experience we had ever had. We had a real conversation with a doctor who listened. The first step for the neurologist in trying to determine what was going on was to get an MRI and run some chromosomal tests. The blood work was taken right in the office at that time. I was both shocked and angry that this test required nothing special at all, it could have been done years ago. The MRI needed to be scheduled for another day as Joey would require sedation, a fact I knew would be needed but still worried me. We scheduled the tests and I continued to be amazed at the staff. The RN at the MRI facility actually asked me how I was doing with everything. The day of the appointment a child life specialist was there to help Joseph with the process and even bought him a football for being so brave. He did well with the whole procedure it was probably more difficult on me than him.

The long wait. It seemed like months but in all reality was only a few days before we heard from the neurologist. I of course was at work and unable to speak over the phone when the doctor personally called me, again something unheard of for us. He sent a initial email that stated

Hi Mrs. Dicola,

I tried calling you but there you were not in. I left a message. I hope email is OK. The MRI did not point toward a specific diagnosis. I do think there is some atrophy – some unexpected “smallness” of the thinking part of the brain. This was what the CT showed. Our neuroradiologist, who is very experienced at looking for rare diseases, did not think that the pattern was a typical result for conditions causing the brain to deteriorate or degenerate. I agree it is not typical and certainly it did not show us any of a number of classic findings for rare diseases that cause severe behavioral disturbances, tremors, etc. Even if we had an MRI from when he was 2-3 years old for comparison and if that prior MRI were completely normal with no suggestion of shrinkage, we would not have a specific diagnosis at this point. There just aren’t any changes that are specific for a particular diagnosis and, fortunately or unfortunately, the MRI does not help guide us toward any other types of blood tests or spinal fluid tests. I do not recall if your son has seen a pediatric ophthalmologist (who dilates the pupils with drops and looks at the retina). Could you let me know? Sometimes this can provide important diagnostic clues about the brain and if this has not been done I can send in a referral. That might guide us toward other blood tests.

My first reaction was not good to say the least. All I could think was great now we have more high definition pretty pictures of Joeys brain that told us what we already know. I had questions. So with all the composure I could muster I sent a reply. 

I am sorry I didn't get to your call I am at work. Joseph has not seen a ophthalmologist. If the MRI really didn't point to anything specific why is he getting worse? Did his blood work come back normal? I am at work till 7 pm tonight you can reach me on my phone here at 000-000-0000 or I will make sure to have my cell on me. I'm just wondering what the next move is.

I would like to take this time to thank the people at my home away from home who were supportive that evening while I had a little mini meltdown. 

After a night of sleep and still more anticipation and anxiety I received a response. 

Dear Mrs. Dicola,

That’s no problem – I can be difficult to reach as well.

 Joseph has not seen a ophthalmologist.

 The back of the eye is the window to the brain and sometimes shows problems that are a clue to diagnosis. He needs to see an experienced pediatric ophthalmologist though and not an optometrist specializing in glasses. Would you like me to refer you to one here? If they find something it could be very helpful, but to be honest the chances are not that high. My view is that this is a good idea anyway.

 If the MRI really didn't point to anything specific why is he getting worse? 

MRI shows many things, but not all things. The findings on his MRI don’t show us what kind of disease might be causing him to get worse or what happened back when he was little and he started having problems.

 Did his blood work come back normal?

Yes the tests I sent did – there are hundreds of rare diseases that cause severe behavior and learning/thinking problems and that can be progressive. Some we know tests and genes for, others we do not.If the ophthalmologist identifies particular findings that would guide us towards blood tests related to those findings. If not, there are still some other blood tests we can send but at this point the chance that any of them would give us a diagnosis is low. 

This can be a very long and painful process. I (and all neurologists) have undiagnosed patients with serious problems. Sometimes, new findings become apparent over time and a diagnosis is made – for example I follow twins that had psychiatric problems for a number of years and then at age 17 some findings emerged which allowed us to figure out the diagnosis.

So there it is folks. It is going to be a long process and it might be years if ever that we truly know what is going on with Joey. At least it appears that we have a doctor willing to continue to search for for answers with us. The hardest part is not knowing, not knowing the prognosis or course this will all take. I guess all we can do is just continue to forge forward and do the best we can. In the meantime I just continue to be grateful and blessed by my family and friends and there unending support. Without all of you I would never be able to do this. 

25 hours.....

I can't take it anymore. I am so sick and tired of pass the buck. Let me tell you the latest in the long list of disregard for my son. On Saturday Joseph started reporting hallucinations both auditory and visual. He was not dangerous but he was scared. Asking me "Mom when will all of this stop?" I called the group home because he was on a home visit and they told me to take him for evaluation so I did. I went to my ER where I trust everyone. The care we had there was amazing and I thought finally we will get somewhere when the attending seeing him didn't just blow it off as a psych issue and said lets get him down to Cincinnati Children's where they can evaluate him for medical reasons and admit him to get some answers. I was elated. So transport comes to take him and I follow. After we arrive and our put in a room we see a medical student for about 10 minutes and some blood work is ordered. After several hours a different medical student comes in and says "everything looks OK and if you are comfortable we will discharge him since he has a neuro appointment so close the neuro fellows believe he can just be seen than, we want to call out to psych and see what they think." Needless to say I was not happy. I told the medical student No psych does not need to be called, he is followed very closely by psych already and is in a treatment facility. He left the room and than the attending finally came in. She went through the same speech and when she was finished I told her, "if all you were going to do was blood work and send us home there was no need to have us transferred here in the middle of the night, the hospital we were at could've done that, you couldve called neuro before hand and seen if they had any idea about admitting him and saved us the trip, the expense and the stress for Joey." So after 25 hours awake we were no better than before we went.

Not only am I exhausted but I am upset. I feel all alone on this. I know my friends and family are supportive of everything but the weight of all of this is crushing me. I feel that I should do this on my own. Someone said some interesting things to me through this ordeal that this can be an inconvenience to everyone. I feel if that is the case I am better off doing it alone. It might be difficult for me to do but better to do than burden others. I plan to move forward and pick myself up. I will continue to fight for Joseph and I will not give up till someone can give me some answers. I love my children with all my heart and I have discovered that their well being is front and center in my life and will always be that way. Maybe I just don't have room for anyone else because when things get tough so far all I have ended up with is more hurt knowing that those who should be there feel its an inconvenience.

Joey has his appointment in one week and at that point I hope and beg that this doctor will listen and say I won't stop till I have an answer, but my faith in that is teasted....