Cincinnati Appointments: Part 1

Yesterday Jake and I traveled to Cincinnati Children's Hospital Medical Center. We had a ton of appointments and it was a very long exhausting two days. I have decided to break this into two blog posts because there is so much to cover.

We dropped Aidan off at school Tuesday morning around 7:30am then hit the road. 3 and a half hours later we were at the Children's Hospital but we had no idea just how long of a day we were in for. We went right up to Cardiology for Jacob's heart echo. He was not a happy camper and the ultrasound tech, child life specialist and myself worked tirelessly to get him to stay still so they could get what they needed. About an hour later they got all of the pictures (As good as they were going to get without sedation). We went straight to another room for the Neurodevelopmental clinic. We were going to participate in the clinic they offer at CHOP but found out that a cardiologist from CHOP recently went to Cincinnati Children's and started a clinic there. Since it is much closer to home I decided to bring Jacob there.

The Neurodevelopmental clinic is one of only a few programs in the country which provides individualized care to offer children with complex heart problems early intervention. Research shows that children with complex heart conditions are at greater risk for developmental delays. Jake is significantly delayed in speech so I want to be able to give him as many resources that I can to help him. Jacob saw a team of specialists that included a Cardiologist, a Cardiovascular Geneticist, a Developmental-Behavioral Pediatrician, A Pediatric Neurologist, an Occupational Therapist, a Nutrition, Social workers, and a Child Life Specialist. Each specialist came in one at a time, back to back and spent quite a bit of time going over his history, how he is developing and what we can do to help him. Then they all met as a team and went over their findings and came up with a plan to help him reach his full potential.

NeuroDevelopmental Cardiologist:Dr. Marino was the cardiologist who brought the program to Cincinnati and I really enjoyed meeting with him. He explained that kids with HLHS are considered very high risk for developmental delays compared to children without a congenital heart defect. That being said as far as HLHS kids go Jacob is actually at the low risk range because he has never had a stroke, seizure, been on ECMO or had other major issues which may put him in the high risk category. He told me that Jacob's echo looked great! This was music to my ears because I have been concerned lately that he has been more "Blue" and had lower sats. He said his heart function was great and everything looked beautiful. YAY!

Cardiovascular Geneticist:The geneticist went over our family history. We talked a lot about how two of my first cousins have children with heart defects and my uncle has a heart issue. The specific defects that my second cousins have do not seem to be related to Jake having HLHS. She does want Andy and Aidan to have cardiac echo's because they have found that there is a strong genetic link to Bicuspid aortic valve issues. This issues wouldn't show up until we are around 50 years old however it can cause serious complications then so we need to make sure we are not at risk. I have already had a heart echo and there was no issues with the Bicuspid Valve. I have been wanting to have Aidan have a heart echo anyway just to be safe and she was very persuasive that we need to have this done because of the strong link. So I am going to talk to Jacobs local cardiologist and see when we can get Aidan checked out.

Developmental-Behavioral Pediatrician:
We spent a lot of time with the developmental therapist discussing Jacob's speech issues. I talked to her about my concerns with him speaking in "Tones" and asked her if she thought it could be speech Apraxia. Apraxia of speech is a motor speech disorder. Children with this speech disorder have problems saying sounds, syllables and words. It is not because of muscle weakness or paralysis. The brain has problems planning to move the body parts (e.g., lips, jaw, tongue) needed for speech. The child knows what they want to say but their brain has difficulty coordinating the muscle movements necessary to say those words. Jake meets many of the criteria such as not babbling as an infant, not speaking until late, words made up of mostly vowel sounds, problems combining the sounds and having long pauses between them along with simplifying the words.

Jake talks in tones. Instead of the word "Thank you" he says "ahhh ooooou". "Outside" is "aaaa iiiide". He kind of has his own language which I have gotten used to and can understand. He has made so much progress since his airway surgery. Prior to his surgery his signing was more like babbling with signs. He didn't attempt any words. Because of his speech delays he is more like a 18 month old right now instead of a 2 and a half year old. This is based on how many words he can say. That being said there are so many factors involved so it is hard to know if the delay is Apraxia ( I went over this more with Neurology), or if it is because for the first 2 years of life he had to focus on breathing and couldn't focus on talking. Plus he couldn't hear due to the breathing so the "Sounds" that we were making sounded different to him. He also was not able to eat by mouth. The fact is he has really had about 5 months of hearing and being able to try and talk. In that time he has gained 7 months as far as "words". So he is making progress and should be able to talk but he needs aggressive speech therapy.

I discussed therapy treatment with her and she is going to help me find local resources as well. She wants Jacob to have a repeat hearing screen to make sure that he can hear words correctly. His last hearing screen was prior to his airway surgery so we need to know what sounds are going in to make sure that the "Tonal" speaking is not just because that is the sound he hears. We are also going to meet with a speech pathologist who specializes in apraxia. They can evaluate him and help us find resources. I have been talking to his local speech therapist about initiating a picture exchange system. PECs is a system that is used to help non-verbal children communicate.  I will create boards with pictures of objects that Jacob eats, uses or wants on them. We will teach Jacob to use these boards by picking what he wants and bringing it to me when he wants it. I will then give him that item. This will give him a more universal way of communicating. Once he masters this then we can teach him to use the iPad apps to be able to communicate with us and tell us what he wants or needs. We will continue to teach him sign language however most people do not know sign language. People are moving toward this way of teaching especially for when he goes to school. Not all teachers know sign language, most do not. So if a child would use sign language they would need an interpreter. Ipads have opened up a whole world of possibilities for children with communication delays. There are now programs where the child can type a sentence using pictures, hit a button and it will speak the sentence. Now kids can communicate with others despite the communication barrier and not need an interpreter. So we are going to continue signing and add the Picture exchange system along with finding more resources for aggressive speech therapy to teach him to talk.

We also talked about getting a vision screen because Jake has been squinting a lot and going really close to the ipad and TV (I mean nose against screen close). So we need to make sure that is ok as well.

Pediatric Neurologist:
The Neurologist and I discussed Jake's speech issues a lot as well. He really wanted to have Jacob have the hearing test as well just to rule that out as a cause. He said it is really hard to pinpoint at this time because of everything Jake has been through. It is hard to say if he was born with the heart defect and the Apraxia or if the heart defect caused the apraxia or if it is because he has hearing issues etc. Basically like the developmental therapist he wants to start at the most basic level and get the hearing test. He also said it is good that CHOP is doing a MRI prior to his fontan surgery (3rd open heart). This will show us if he ever suffered a stroke that we were not aware of during his surgeries or recoveries. He said it is possible for this to happen and us not know about it unless a scan like the MRI is preformed. They don't want to do one to check because he will have one pre-Fontan and honestly if he did then the damage is done and the treatment plan is the same... aggressive speech therapy. He did say that he was not convinced Jake has Apraxia because his motor skills are so good. Usually if there is Apraxia of Speech the kids show developmental delays in other area's as well and Jake is age appropriate in those areas. He did not have any other concerns as far as Jacob's neuro development. He did say Jake had a little bit of a big head for his height lol but so does Aidan. My boys have short legs but big brains!

Occupational Therapist:
I really enjoyed this session. Jake got to play! I was really impressed because he sat down and did her puzzle with no problems. At home he tends to play with the pieces but he grabbed her shapes and put them right where they belonged. She would draw a line on a piece of paper and say zoom and Jake did the same line and made the same sounds. The only things he didn't do was string round circles onto a string and use scissors but we have never worked on those things at home so we think it is from lack of exposure. I didn't realize kids that young should be using scissors lol but it is good for their hand strength. So now we know what to work on but it was great to hear that his motor skills are great and age appropriate!

Nutritionist:
Jake has always loved to eat so the Nutritionist was very happy with his weight gain and height. She said to keep doing what we are doing! We did talk about his continued problem with thin liquids. We agreed he needs to have a repeat swallow study so we can come up with a long term plan. His airway is healed so at this point if he were going to be able to do liquids he should by now. So we need to come up with a long term plan. I am going to try and get him to use the thickener and drink thickened liquids but if he refuses then we need to figure something out. Right now he drinks his milk through a 60ml syringe because he can only get small amounts out and he doesn't choke on them. This is not ideal though especially when he goes to school.

Social Workers and Child Life:
The social workers and child life specialist just helped us entertain Jake and discuss traveling and resources available to help us.

Once we met with everyone the specialists met and discussed their evaluations and came up with a Global Plan for Jake.

Global Impression: The doctors findings
1. Speech delay, and we need to rule out apraxia
2. Jake is age appropriate in fine motor, visual motor and gross motor skills
3. Jake eats a wide variety of foods and is growing well. He still struggles with fluid intake and takes everything by syringe.
4. No concerning dysmorphic features (Genetics)

Global Plan: The plan they came up with for Jake1. Hearing Test
2. Speech/Language evaluation by speech pathologist specialized in apraxia
3. Initiation of PECS (Picture Exchange Communication System), with the goal of using an augmentative communication device.
4. No formal occupational therapy recommended at this time however recommend follow through with home program recommended by occupational therapist in clinic.
6. Repeat swallow study and follow up with speech/ot to work on getting off the syringe and onto a sippy cup. Work on increasing fluid intake. Recommend additional milk to daily regimen.
7. Obtain genetic testing records from CHOP, Father and Brother to get echocardiogram to rule out bicuspid aortic valve.
8. General follow-up in the Clinic in 1 year

We didn't get out of the hospital until 6pm Tuesday night, it was a very long but productive day. We will be going back to Cincinnati Children's for a swallow study, hearing test and to meet with the speech pathologists to discuss resources and treatment.

To learn more about the Neurodevelopment Clinic visit www.cincinnatichildrens.org/hi-ndc


I will write all about Wednesday's visits in Part Two which I hope to post tomorrow night. Stay tuned...