Gastroenterology Update

We had our visit with the GI doctor on Tuesday morning. Rylan had a blast in the waiting room playing with the toys but disliked the exam room mucho. He was not a very cooperative little boy, we will leave it at that.

The doctor had some blood work done to look at how his liver functions and to test him for celiac disease. We just got the results back now. The liver blood work all came back normal; things are working as they should. The celiac testing is a panel of a few different tests, one of the tests called IgA, it showed Rylan was deficient. IgA is an antibody, so it actually helps to understand why he is sick all the time with colds and what not, he can’t fight things off. So anyway when this result comes back as deficient it basically alters the rest of the results so they are no longer accurate.  That means they can’t tell us anything about the results on the rest of the celiac panel because they might not be accurate.  This means…are you ready for it……Rylan has to have his intestine biopsied. So back to Children’s we go and he will be put under, scoped and the doctor will take a little piece of his intestine out to tell us whether he has celiac disease or not. IgA deficiency is linked to celiac disease but only around 4%, however the other factors of his size, family history, health history brings the percentage up.

This is not yet scheduled but we are excited because the other doctor has been wanting an MRI of his pituitary gland from his low growth hormones. I told her the other day it will not happen until December, per the neurosurgeon unless she thinks it is really necessary. She came back and said that is fine….BUT she needs a growth hormone stimulation test done on him soon. I just scheduled it and I would rather poke my eyes out then experience 4-6 hours of drawing blood every 30 minutes on a little boy who has not eaten or drank for 24 hours. Now I get to tell her she can have her MRI and we can cancel the stimulation test.  WOOT WOOT

HAPPY FRIDAY HAPPY WEEKEND

This was him laughing before things got rocky in the exam room.

T

Happy Mother’s Day

We had our appointment with the neurosurgeon this morning, another fabulous doctor from Gillette’s. It was on the books for 6 months so it was a long time coming. Our neurologist wanted us to meet with her to discuss the MRI he had back in December. They wanted to provide us a better understanding of the images and discuss the unique areas in detail. If you recall from the MRI there are two areas of concern, one is referred to as heterotopias (gray matter in an area that shouldn’t have gray matter) and the other being a chiari malformation (crowded area I have talked about in the past)

1.      Heterotopias – there is nothing that can be done here, it is something that has been discovered from the scan. It is a reason for seizures/epilepsy. We have not had any additional seizures or unusual behaviors, but should more seizure activity present itself we will talk about getting Rylan on an anti seizure medication. The Neurologist thinks there is a good chance we will see more, but there is also a good chance we won’t see more. No active plans regarding this finding, just knowledge for us to be prepared for.

2.      Chiari Malformation – this is the most concerning area in Rylan’s brain. It consists of a downward displacement of the cerebellar tonsils through the opening at the base of the skull. This displacement  (crowding) can cause obstruction of fluid. If obstructed it can cause headaches, fatigue, muscle weakness in the head and face, difficulty swallowing, dizziness, nausea, impaired coordination, and, in severe cases, paralysis. Rylan’s chiari is very mild; it could improve over time or worsen. As of today the surgeon would not operate on him as it is not causing any problems. Should it get worse Rylan could begin to experience the above side effects and we would need to have surgery to open the area up. Previously we were told we would have another MRI in 6 months but today it was decided that we will wait a full 12 months to rescan and compare the two images. Being put under at his age could cause other issues so since there is no urgency from the surgeon we will have the 2^nd scan in December, unless something happens before then.

Good appointment, good news, much to be grateful for today and every day. This is such a lovely follow up to Mother’s Day.

Tomorrow we see an old doctor friend of ours, one Rylan met when he was just a few months old. One that I consider a favorite because he helped control his reflux when he was a baby. We are headed back to the GI for some testing and discussion on the liver, growth hormones and who knows what else….just crossing our fingers for no more referrals.

Rylan is doing fantastic in big boy school.

1st day jitters

Knock em dead big boy!

Results Recap

I received a phone call from the doctor we saw at the U of M. She received the blood work back and has provided us with the following information.

·         Rylan has low vitamin D, she recommended starting a multi-vitamin for him.

·         Rylan has low growth hormones, this can link to fatty liver (reason we went in the first place). It is of concern so she wants more testing done.

·         She wants Rylan tested for celiac disease.

·         She would like the thyroid test repeated; it was showing as lower than normal.

·         She would like an MRI done to evaluate his pituitary gland.  

·         She wants us to meet with a pediatric GI to review the above then go back to see her.

So we are going to get to work on that list now. In the meantime Rylan will be starting daycare at his best friends (Cece) school next week.  It is a bittersweet, we are all looking forward to that change in routine, especially Cece!

Totally tubular check up

Today was Rylan’s 18 month check up (really 20 ½ month) it is hard to believe we have not seen his pediatrician for 8 months. At our last well visit exam Rylan had officially failed every milestone since birth which resulted in our referral to Gillette’s to get evaluated. We have been hard at it since that appointment and it has made a world of difference. She was so impressed with his progress (DUH!)

Today when she ran through the typical questions to gauge his development I answered yes to almost all the questions.

1.      Does he know what to do with a crayon….YES

2.      Does he feed a baby….YES

3.      Does he know what to do with a brush….YES

4.      Does he brush his teeth….YES

5.      Does he eat with a spoon….YES

You get the point….

The doctor will be following up in regards to the appointment at the U of M last week. We are hoping to have a different strategy plan and a second opinion on the liver ultrasound.

We will be getting out the bubbly (apple juice) tonight.

Below is a video of the latest source of entertainment for the big boy. Sorry about the pan clattering in the background, it was dinner time.

The wild goose chase for answers continues

Can you tell the frustration in the title of this post? It was a long painful morning for the three of us with little answers and more invites to meet new doctors. For some reason we were anticipating this appointment to provide us with answers and solutions to assist Rylan, no such luck.

We were referred to the U of M metabolic clinic by the Geneticist at Children’s after recognizing an abnormal liver from Rylan’s ultrasound. She said it looked to have a fatty texture; this can be a result of a metabolic disorder. We assumed we would be discussing this during the appointment but we didn’t spend much time on it and in fact the doctor didn’t mention it until I brought it up. Instead we spent a couple hours talking about his past (while Rylan got crabby) then an exam from the consultant in training. We met the doctor and she said she wanted some screening done today for a large number of disorders. She referred us to Ophthalmology at the U of M to review his eyes closely. We will head back to see today’s doctor after we are seen by Ophthalmology and have another ultrasound done on his liver. Rylan had more blood drawn today. The nurse in training had a hard time finding a good vein so after three attempts, Rylan was not happy. She eventually got what she needed and we should get the results back in a few weeks.

I am going to follow up with the Geneticist on the liver as the abnormal liver conversation must have been lost in translation. Our pediatrician urgently wanted us to be seen because of it and then today it was not really addressed. Maybe it means one less thing to worry about; we will get to the bottom of that soon.

Rylan waiting patiently (before he lost his patience) for his exam 





Graduation

We need to start planning for a big graduation party because Rylan is graduating from physical therapy at Gillette’s. He has one more session and we are done, he has ACHIEVED all goals.  They were pleased to see this man can walk and stand up in the middle of a room unassisted. See how proud he is of his accomplishments. Almost as proud as us.