Many of you have heard our story of 22Q but many don’t. We want to share with you about our journey with Hala and 22Q and what the future looks like for her and our family.
Hala was born January 9, 1999, right on her due date. We were between our Junior and Senior semesters at NTBI in Jackson, MI, so we came home to Ontario for her birth. I had a very normal pregnancy with Hala. Her pregnancy was the only one that I didn’t have morning sickness with. My labour and delivery was much easier than my first. To this day I would say she was the easiest. On January 20th we returned to Michigan to finish our last semester of Bible school. In the 4 months we were at NTBI, Hala developed normally with no concerns. Around the time she was 1 yr old, our family doctor was concerned about her size. She was below the first percentile in weight so he sent us to a paediatrician and did some blood work to make sure everything was ok. Her blood work was good but the paediatrician said that it had to be my breast milk that was not sufficient for her. (I had breast fed Eli, her older brother for 13 months, and he was a monster! How could my milk not be enough???) She was in the process of being weaned anyway, so we just left it alone. Everything remained ok with Hala over the next year until just before her 2nd birthday. She then developed pneumonia and was hospitalized for dehydration. She was a very stubborn little girl! When Hala was 2 1/2 yrs old we saw that same paediatician, and I mentioned my concern for her lack of speech. Her older brother started talking at 1 yr and was talking very clearly at 2 1/2 yrs but Hala could say only a couple of words, Mama, Nana, Ahe for Daddy. The doctor told us that it was because her older brother talked for her so she would develop speech over time.
We then moved on to Missouri to attend Language Institute in preparation for going to the Philippines as missionaries. One of the classes we took taught us how we made speech sounds by moving our tongue and lips along with what sounds came out our nose. During that class I started to think about the sounds Hala could make. They were all nasal sounds, M, N & NG. Something didn’t seem right. We were then able to get her into a speech therapist in Missouri for an assessment. At 2 yrs 10 months, Hala was less than 1% intelligible. An average 3 yr old is to be 75-85% intelligible. Something was wrong. While looking in her mouth we could see that she had a slight bifid uvula (the waddle in the back of your throat!) During our Christmas break we were thankful to get in to see an ENT in Ontario. He sent us for X-rays to check for a palate problem but it was completely formed. He recommended that she receive speech therapy for the next 5 months when we were back in Missouri to see if that would help.
Over the next 5 months we attended speech therapy twice a week and saw no change in Hala’s speech. She also had many upper respiratory infections. Because she was in a childcare setting and her previous case of pneumonia we didn’t think it was of any major concern.
In June 2002 we returned to the ENT and immediately he decided there wasn’t any change and wanted her to see an ENT at the Hospital for Sick Children in Toronto.
In July of 2002 we made our first trip to Sickkids with Hala to see the ENT. After a very thorough history the doctor said that she had hyper nasal speech. All the air was coming out her nose instead of through her mouth, like it should. He told us that he would like her to have speech therapy to see if that would help. If surgery was needed, they didn’t usually do it until they were 7-8 yrs old. Hala was just 3 1/2 yrs old. Our plans were to leave for the Philippines in just over a year. How could this all work out? We had so many questions.
Before we left the ENT, he said that he would like for us to have Hala tested for a genetic syndrome just to rule it out as he didn’t think she had it but he just wanted to be sure to cover everything. Normally the procedure is to be referred to Genetics, which takes several months to get an appointment. Then Genetics tells you what they will test your child for. Then they take a blood sample and you wait several months for the results. The ENT we saw realized that we had to drive 2 1/2 hrs to get to Sickkids so he called Genetics to see if they would approve the test before the consultation. They agreed. So we did the blood test that day in July.
On September 5, 2002 we returned to Sickkids for Hala to have impacted wax removed from her ears. She has very narrow ear canals and the wax just kept building up. He wasn’t able to remove it in his office, so wanted to sedate her and clean them out and be prepared to put tubes in if there was a fluid build up. All went smoothly, the wax was removed and no tubes were needed. While in the waiting room the doctor came to tell us it was all done and she was in recovery. I remember clearly watching him get up and head to the door. He stopped, turned around and came back to us. He told us that he just remembered that Hala’s genetic test had just come back in. Hala did have the syndrome he didn’t think she had. He told us Hala had 22Q. At the time it was referred to as Digeorge Syndrome or VCFS.
As you can imagine it sent our minds spinning. I was 1 week to my due date with Charlotte. We knew nothing of 22Q. Would it affect this new baby as it did Hala? We knew we were having a girl. Did it affect girls more than boys? Our boys seemed ok. What other health issues would she have? How would this affect our time for departing for the Philippines? There were so many questions. I understand why they do genetics counselling before testing you or your child! Of course we started looking up info online when we got home but still had so many questions.
In October 2002 we met with our genetics team for the first time. They gave us lots of information but didn’t overwhelm us. I tend to be one that wants to know everything now but they were not wanting to overwhelm us with information and talked a lot about what we needed to be concerned with now and not 10 years from now or beyond. Over the years I have thought about this. It frustrated me at the time but I now know that it was for my own sanity that I learned a little at a time.
So what is 22Q?
What is 22q11.2 Deletion Syndrome (22q11.2DS)?
22q11.2DS used to be called velo-cardio-facial syndrome or DiGeorge syndrome.
An individual with 22q11.2 Deletion Syndrome (22q11.2DS) is missing a piece of chromosome 22.
• Are found in about 1 in every 2000 newborns
• Are often not tested for
• Are usually new (instead of inherited) genetic changes, not found in either parent
• Are found in a parent about 1 in every 10 people
• Are not caused by anything the parents did or did not do before or during the pregnancy
22q11.2DS is a genetic condition that has many possible health issues. These can include:
• Intellectual and developmental disabilities (ranging from very mild to severe)
• Learning difficulties
• Problems with how the palate works, that can cause nasal sounding speech
• Congenital heart defects (birth defects of the heart)
• Multiple infections as a child
• Treatable psychiatric illnesses
• Low calcium levels
• Curvations of the spine
• …plus many others
No one person has all the possible features. Everyone with 22q11.2DS is different, even within a family.
There are treatments available for nearly all of the features.
For the next year we spent a lot of time seeing doctors and getting tests done. Some were scary to wait for answers on. The scariest was when we went for an echocardiogram. They say 85% of people with 22Q have a significant heart defect. As I sat with Hala as they looked at her heart, I was amazed at how awesome our God is to create our bodies to work the way they do. And I was amazed at how God gave people the ability to create machines that could look inside the heart to see what is going on. At one point the doctor left the room and brought in another doctor. The two of them kept going over her heart and talking to each other. I was starting to panic. They finally realized what they were doing to this poor girls mother and explained! I don’t even remember the details but it has something to do with an artery that goes a different way than normal causing no problems but if it had gone another way, it would have been very serious. I was so thankful.
Tests later revealed that Hala had one functioning kidney with the other kidney smaller than a newborn kidney with multiple cysts on it that was not functioning. They would need to monitor them to make sure the none functioning kidney was dissolved by the body and that the working kidney was working well.
We also learned that she had low iron and calcium levels. We later learned that her parathyroid wasn’t working correctly.
What does the parathyroid gland do?
They measure the amount of calcium in the blood every minute of every day… and if the calcium levels go down a little bit, the parathyroid glands recognize it and make parathyroid hormone (PTH) which goes to the bones and takes some calcium out (makes a withdrawal from the calcium vault) and puts it into the blood. When the calcium in the blood is high enough, then the parathyroids shut down and stop making PTH. http://www.parathyroid.com/parathyroid.htm Hala’s parathyroid wasn’t producing enough PTH to access the stored calcium in her bones when it needed it. If your calcium levels get too low you can have seizures.
Hala’s immune system was improving by this point in her life but 22Q explained why she had been so much sicker than her brothers. Kids with 22Q often take longer to recover from illnesses too. When her brothers would get over a cold in 7 days, it would take her 10 days.
We started regularly seeing an endocrinologist for Hala’s hypoparathyroidism and a nephrologist to monitor her kidneys. We also saw ENT to evaluate her progress with speech therapy and keep her ears free from wax.
In early 2003, after several months of speech therapy, we returned to her ENT for a video fluoroscopy. This is where they put a liquid chalk up her nose and did a video X-ray to see how things are moving in the back of the throat as she tried to talk. It was really a cool thing to watch. It was determined that day that no amount of speech therapy would strengthen the muscles in the back of her throat to stop air from going out her nose. She would need surgery to repair this.
If you remember back to early 2003 it was when the world was dealing with SARS. This affected many appointments and surgeries that were happening at hospitals, including Sickkids. Hala needed a CT scan prior to surgery so they would know where her carotid arteries were. People with 22Q sometimes have their carotid arteries more mid-line compared to being more to the outside. This can be a problem when doing surgery in the throat. Anyway, it was thought that the CT scan would be canceled but when they looked in the system it was found that she had an appointment with the ENT the same day. So because she had 2 things scheduled, they allowed it to stand. The funny thing was that the ENT appointment was only to talk about the results of the CT scan. They were connected to each other. All went well and there was no concern with her carotid arteries.
We were told though that her surgery, pharyngal flap surgery, was considered elective so they would likely cancel and reschedule her surgery until after SARS. She was scheduled for early April 2003. We were thankful though that the surgeon decided that Hala needed the surgery so much that he kept it on the schedule.
On April 7th Hala and I went to Sickkids. Because of SARS, only one parent was allowed in the hospital. We also had to wear face masks the whole time. Hala came through surgery fine but there was a concern of sleep apnea when she was coming out of sedation. After more than 4 yrs of always breathing through your nose, it would be a difficult thing to change. So they couldn’t give her morphine for the pain. It was just tylenol, which she wouldn’t take orally. Then she wouldn’t swallow, so mucus built up causing her to gag. Finally the nurses we allowed to suction the mucus out and she started to swallow. By day 5, when Daddy came for a visit she was starting to eat freezies and keep them down. The next day we were able to go home.
Over the next 2 years Hala spent at least one day a week doing speech therapy with a speech therapist. Because of her age and switching from the preschool program to the elementary program along with some private lessons plus a summer of driving every week to Sickkids, Hala was able to have continuous speech therapy. We know the Lord had His hand in it as usually you do 3 months with speech therapy and then 3 months without because so many kids are needing help. Just 2 years after her surgery her speech pathologist said she was speaking at her age level. They were truly amazed. Many days we would show up to speech therapy and she would be using a sound she hadn’t before, that she wasn’t taught. I remember a little after this time talking to a friend on the phone and having to tell Hala to be quiet! We got a good laugh out of it.
By the time we were ready to head to the Philippines we finally had her medicine for her hypoparathyroidism at a good level. But just 10 days before leaving for the Philippines after a routine ultrasound, her doctor became concerned that her none functioning kidney had grown. If it had it was not a good thing. They managed to squeeze us in for a CT scan just 5 days before our departure. The doctor called me right away after the results were in to let me know that the kidney was fine!
Through Hala’s years in the Philippines all her annual blood work continued to stay at good levels until puberty when it needed to be adjusted a little. But since she has stopped growing it has levelled out again with no problems. And her none functioning kidney was dissolved by the body by 2008.
A very common issue with people with 22Q is how they learn. Generally they learn by rote. They memorize the answers and the outcome of things. This makes it challenging when something new comes up in life and she hasn’t learned what to do. Most people as they grow and get more life experience have the ability to figure out what to do. This is challenging for Hala sometimes. Math concepts can be hard, especially when you get into abstract things. Think algebra for a minute! It confuses the best of us but can be very challenging for those with 22Q. Dealing with money is hard for her but add the fact that she is always working with 3 currencies; Canadian, American and Philippine Peso. We continue to work with Hala in building her vocabulary so she can know more words and what they mean. She loves to read which has helped her a lot. Some things in life are just more challenging for her.
We don’t know the future for Hala but we do know that we want to be here for her. We want to help her to become as independent as possible. But we do know that it will take longer for her than the average kid.
I have noticed how Hala has become more and more intuitive over the last year. If she notices something needs to be done she will often just do it. If I ask someone to put the dishes away, she is usually the first up to do it while the others hide their faces and ignore me. Hala has become Beatrice’s second mom. If we need to be gone overnight we try to make sure that Hala is wherever Bea is. Hala can comfort her just as well as her parents. Hala is learning to do more in the kitchen and is eager to learn to make new things. She loves to read about Greek Mythology. She loves anything art related. She draws and paints. She makes bracelets with thread and makes hats on a knitting loom. She’s my go to gal for washing and folding laundry.
We have been blessed by such a wonderful daughter. We thank the Lord for giving her to us.
Now you might be wondering about Hala’s name. It is pronounced like the beginning of ‘hallelujah’. Before I became pregnant with her we started looking at names for our next child. This is when I came across her name. The book I had said the meaning was ‘unexpected gift’. To this day I haven’t been able to find it with this meaning. If you look it up you will find ‘halo around the moon’. We had wanted to have 6 kids and always joked that we would end up like Chuck’s parents and have 5 boys and then finally number 6 would be a girl. So we figured that if we had a girl anytime before baby #6 she would be an unexpected gift. And then God blessed us with #2 being a girl. (And to think we only have 2 boys and 5 girls!!!) Hala’s name has so much more meaning now than it ever did when we picked it. Hala is a gift from God especially because of 22Q. We have learned to trust God in the hard times, in the unknowns of each day. We have learned that He is faithful to us through it all. We would never choose to change things and not have Hala in our lives.
As we have prayed about what the future holds for Hala we have felt a peace about our needing to be with Hala for an extended period of time in Canada to help her get settled into life there. We believe that she will need to live at home for quite some time into her adult life. But we will look for opportunities to allow her to become independent and move out on her own. We really don’t know all the details but we know that we will need leave the Philippines for an indefinite amount of time by mid 2019. We don’t know if we will be able to return.
Please continue to pray for Hala as she grows and develops into a wonderful young lady. Pray that we can teach her all that she needs to know for her future. Pray for direction for us as a family as we seek the Lord for our future.