It has been a crazy busy couple of months.
We have taken huge strides with Aine and her health!
We started by traveling to Mayo and discussing her nutrition. Aine had not grown in the last 5ish years and was starting to lose the muscle mass she worked so hard to get during karate, horseback riding, and dance. She started to sit during classes and then not want to take classes; which was a red flag in our books. When she stopped flipping her bo staff and chucks and didn’t want to touch her sword I knew that we had to do something.
An appointment was scheduled and we started our new adventure. During the first month of our transition Aine was switched to a different food and started to gain weight and get her energy back. Within two months Aine gained 6 pounds - yes SIX Pounds!! More than she gained in 5 years total!!
We traveled back about a month after the food change and got good reviews from all of her Dr’s as well as got referred to a bunch more Drs. She was asked to join an aerodigestive clinic to help with her incontinence; swallowing; and respiratory issues.
I’m happy to announce that she has passed her VERY first swallow study. She has been working hard for 8 years to be able to pass this test and has finally succeeded!!! Tomorrow; she will go to the surgical suite to verify that there are no issues that need to be addressed prior to allowing her to start with a feeding schedule - whether that be in a feeding clinic or at home.
Her vocal cords seem to be intact and working as they should; but that will also be verified tomorrow.
She is down to one hearing aid and will have further hearing tests once her ears are checked tomorrow. I’m guessing that they will clean her ears out and if they don’t find ear tubes; possibly put another set in. Once this is done tomorrow - we will schedule another test to verify the initial hearing test results and do any adjustments to the actual hearing aids at that time.
One side of her nose is inflamed; but no reason “why” has been discussed as they will look at all of this tomorrow.
Pulmonology will also be in the surgical suite tomorrow and they will be looking at her lungs as well as an abnormality that was seen on a previous scope. They will be looking to see if she has any damage or inflammation from illnesses or structural issues which would cause her to get sick or sound sick (croup type cough and prolonged illnesses). Our end goal is to keep her healthy and hopefully start going out without her mask!! They will also be helping us set up a new chart to follow should she get ill.
During this time they will also be checking to make sure she isn’t dealing with ulcers and may take biopsies while they are there due to some of the other things Aine is dealing with.
We will not have the results of all the tests for a few weeks as they need to be put together with her previous results which will include the results from the tests that are scheduled to be done in a few weeks. Which will start with a brain and spine MRI; this test possibly holds the answers to many of the questions that we had or have arisen during these last few months.
Moving on from those 3 systems:
Aine’s bone age came back as a 6 year old; so that means that she still has the ability to grow! She has grown a titch since the food change and she has been ecstatic about picking out new clothes. She is definitely my daughter when it comes to clothes and shoe shopping!!!
Her right leg is shorter than her left; so she now has a lift in that orthotic. It absolutely makes a difference as her hips are now level.
She is running and jumping; riding her bike and swinging faster than ever! She loves to go to the park and throwing toys for her dogs. She just had a dance recital and is ready to start going to karate classes again. We have her all signed up to start riding her horse again and she wants to take tap class.
The problem we have been running into though is that her knee hurts. We were able to talk to the Dr’s about it and they did some testing and discovered she has osteopenia.
Definition: Osteopenia is when your bones are weaker than normal but not so far gone that they break easily, which is the hallmark of osteoporosis
During the state fair - Aine broke her leg…. There has not been an official link between the two and we don’t know what the next steps will be; but in August we will be seeing a specialist to discuss the condition further.
It hurts my heart to know her knee hurts so bad; but at least I can explain it to Liam now that is the positive at this time.
There have not been any signs of scoliosis; so that is good, but since she has DiGeorge Syndrome they will continue to monitor her as she gets older (22q11.2 puts kids at risk)
Her shoulders were reviewed and we will be discussing them in more detail after she has her testing tomorrow and the end of June. This is limiting her mobility and exercise. It is not known at this time if they are higher than they should be or if there is extra stuff in there as there is a possible calcification by her neck as well as by the opposite shoulder. I’m curious to see what the rest of the tests show about this. She has a webbed neck which limits her mobility some; but we are not planning on addressing the webbing at this time.
She will be checked for Chiari Malformation as well as a tethered cord. If she presents with either of these; we may have our incontinence reason. She will also be checked for brain stem damage as well as pituitary growths. These results will help the Drs determine which path to take to help Aine continue to make leaps forward.
She looks out the side of her eye (turns her head to the right to watch TV) so she will be having a full eye exam to see what is going on there.
During a future visit a sleep study will also be done to check on her sleep apnea and make sure her Bi-pap settings are correct.
Aine saw the cardiac surgeon and he has ordered some additional testing to see when she will need another heart cath which will help us determine when she will need to have another open heart surgery. An OHS is absolutely in her future (and sooner in life now that she is growing) but we need to make sure that it happens at the correct time for Aine. Not too early but not on an emergency basis. All the future testing will assist in giving us a timeline.
There are definitely more positives than negatives and more answers than questions.
Aine Loves the hospital and all the staff that have worked with her. She asks all the time when we are going back and we have to count on her calendar the days as they go.
She is stronger than ever and ready to fight the fight she started over 8 years ago.
She is determined to kick the boys butts (Karate tournaments) and going to grow big like her friend Jessie. She’s going to be a horse mommy and have her bestie train her baby. She has a shoe family right now that is learning to tap and LOVES her new food. For now Chase (paw patrol stuffed animal) is her baby and he loves to flip and do the long jump.
She can’t wait until she is ready to test for her black belt and has been practicing her spin jump wheel kick. Did I mention she LOVES her new food??
Thank you for all your prayers and good thoughts! They mean the world to us.
As always - if you have any questions; please feel free to ask. Post a question publicly or send us a message.. If you have a question, chances are someone else has the same one.
