Our Story
Our story began in December 2016 just days before our family was supposed to arrive for Christmas. Mike and I found out I was pregnant. We were ecstatic about what our future held and were making plans immediately. Fast forward 9 months to August 21, 2017. Looking back on the pregnancy, it was perfect with no issues. Ultrasounds were always unremarkable and I was able to stay active right up until I went into labor. We went into the Regina General Hospital at about 8:30 am and by 4:29 that day, we were happy to announce the birth of Carlin James Foley. The delivery went just like my entire pregnancy. Perfect. I was able to have a natural birth with no complications. Family and friends came to visit us in the hospital and we were home when Carlin was just 26 hours old. Friends of mine warned me that sometimes the first night home can be a wild one. They said that often times, the baby is still adjusting and doesn't like to sleep. I was well prepared thanks to others. Our first night home was again, unremarkable. I woke up before Carlin did and I went to try and feed him, but he was too sleepy and not interested. I didn't push the issue. I applied the old saying "Don't wake a sleeping baby". Our next day began wonderfully and we were so happy with how everything was turning out. We were all happy and healthy and we were excited to show off our new baby. Fast forward to Carlin's 4th day of life. The public health nurse came to check on us and again, unremarkable. She commended us on how well we were doing and Carlin looked perfect. Then the phone started ringing...
Our family doctor called and said she needed to see us urgently. Neither the health nurse nor I could figure out why. Maybe my hemoglobin was low? Maybe Carlin was slightly jaundice? Then the phone rang again. It was our paediatric endocrinologist from Saskatoon, a specialist we didn't know we had. He was calling to tell us about some test results from Carlin's "heel poke" that babies get done prior to discharge. Carlin needed additional blood work done because his results indicated he may have a rare genetic condition called "Congenital Adrenal Hyperplasia". I'm not sure it really hit me at this point. I was hoping that we would get test results back and it was all be false. If we waited too long, Carlin could have what is called an "adrenal crisis", a life threatening medical emergency which can often happen at 5 days of age due to lack of a hormone called "cortisol". I remember scratching all the information down on a piece of paper so I could tell Mike everything when I got off the phone. The doctor said that we may have to be admitted to the paediatric ward depending on his results. I was obviously in denial because we went in without anything to stay the night. We went to the hospital, hormonal, scared but still in denial. The paediatrician was amazing. She reassured us that this does not change Carlin's future..."He can do anything he wants to....president or anything". Well I would hope so...Donald Trump IS!
We went to my brother and sister in laws to await test results and tell them what was going on. It wasn't long before we got the phone call. His blood sugar was low so we would need to be admitted for observation. Still in denial.
The next day on the paediatric ward, more blood tests were to happen....20mls of blood were needed from this dehydrated newborn baby. After 7 pokes and many of Mama's tears, they were able to obtain 6 mls of blood. The Nicu nurses called it quits. No more for today. It wasn't long before doctors came in and confirmed that yes, Carlin does have Congenital Adrenal Hyperplasia and we were begin treatment immediately to prevent a crisis. Carlin was a champ from the very beginning. He took his meds and within 2 days we were sent home. We got all our discharge instructions and prescriptions to get his meds. A last minute blood test indicated that Carlin's sodium levels were now dropping indicating he had what is called "Salt Wasting CAH". Oh good...the worst type.We would have to give him a sodium solution. No big deal. I can do it. I am a registered nurse after all.....
Fast forward to Carlin's first dose of sodium. I remember trying to give it to him. It was one of the worst experiences of all this. He started choking and sputtering. Thankfully my parents were around to give a helping hand and dry my tears. We knew we had to think of a better way to get this sodium into him, but in the mean time, I needed a moment and Grandma Case took over. After a long bubbly bath, we decided we would put the salt in formula to try and dilute the taste. It worked. Phew!
The next couple of weeks went ok. Lots of appointments, blood work and attempts to get Carlin's potassium down. All while trying to continue with farming locally and in Coronach. A few dosage changes to meds, we were able to get things to stabilize and life was good.
Hospitalization #2
We were down in Coronach harvesting. Carlin was 3 weeks old and he woke up puking and refusing to eat. Long story short, we had to rush him up to Regina to the General hospital for observation for 24 hours. Did you know Grandpa's truck governs out at about 160km/h...?
Hospitalization #3
Christmas was wonderful but Carlin just wasn't feeling great. We were excited to spend our first big holiday as a new little family. December 28th was just like any other day until he couldn't keep his medication down and had a fever of over 39 degrees. Back to the ER we go. After much convincing of the physician, we were admitted to the paediatric ward again. After 8 nights in the hospital, we had 3 new diagnoses...Influenza A, high blood pressure and reflux of the kidney. We left there with a prescription for high blood pressure, an appoint for an echocardiogram and an appointment for a CT scan of his kidneys.
Hospitalization #4
We decided it was time for a little getaway. We went with Grandpa and Grandma Case to Saskatoon to watch cousin Keelan play basketball. Our second night there, Carlin woke up vomiting. We needed to stress dose but he couldn't keep the medication down. I had to give the injection for the first time and head to the ER. We were admitted to the paediatric ward again and transferred back to Regina. Between IV medications, with a saline lock in place in his head, we hit the road to Regina. After a few nights of IV meds, Carlin was over his stomach flu and we got to come home again.
August 8, 2017
Since March, things have been going great. We have been told that the first year is the hardest and this is absolutely the truth. We now have blood work every 3 months as well as appointments with two specialists every 3 months (paediatric endocrinologist in Saskatoon and paediatric nephrologist in Regina).
When Mike and I found out about Carlin's CAH diagnosis, I wanted to speak with others who have experience with CAH but was unable to find anyone locally. My intention is to be a person of support for future families who go through a similar experience.
If I have learned anything about my entire experience to date, I know that children are the most resilient little fellas out there. Carlin is one of the happiest babies around. He spends the majority of his days smiling and giggling...perfect for those days when mama and dad begin to worry about him for one reason or another. He is the light of our lives and makes everyday perfect. The day Carlin was diagnosed, our thoughts regarding adding to our family with future children became a daily discussion. CAH is considered a recessive gene. Prior to Carlin's diagnosis, as far as we were aware, our chances of having a child with CAH was about 1 in 18,000... Carlin's diagnosis day changed that reality to 1 in 4. Ninety-nine percent of the time, both parents must be carriers of the gene to pass the condition onto their child... one percent of the time the condition is spontaneous, meaning we would be back in the running for 1 in 18000 babies. Mike and I will undergo genetic testing within the week to determine our odds. Chances are looking like 1 in 4 but that doesn't scare me at all. Many children are unfortunately diagnosed with much worse conditions that are not manageable like Carlin's. I thank my lucky stars every day that we are able to manage his condition and monitor him well, in hopes of preventing an adrenal crisis. I am not scared to have more children with CAH. We now have the basic knowledge and understanding and we were chosen to be his parents because we can deal with it. I truly believe that everything happens for a reason.
Carlin is on three medications that he receives throughout the day. Between medications, we are constantly monitoring him for signs of illness. In cases of illness or injury, we provide him extra medication to replace what the body would normally produce.
The Fun Run in June 2017 was an excellent opportunity to meet other families with CAH children and raise money for Teddy Bears Anonymous. With huge support and donations, we were able to raise awareness for CAH as well as $23,000 for Teddy Bears Anonymous. Our next walk will take place on June 24, 2018 in Regina, SK. I hope you can join us!
September 2017
We have had a great summer with lots of family, friends and health! Mike, Carlin and I took a road trip to Vancouver, BC. I was worried about how well Carlin would travel but he did so good! We made sure to stop at many playgrounds and spray parks along the way. Carlin had his first plane ride on a 20 minute float plane to get a better look at Vancouver. On our way home, we stopped in at Old, AB so Carlin could meet his Great Aunt and Uncle Lowe for the first time.
Mike and I both had our blood work done to for the geneticist to determine carrier status of CAH. We are still awaiting those results. Carlin almost had to hold his Dad's hand.
It had been 3 months since Carlin's last blood work so it was time to get everything checked again. We were lucky enough to have an excellent lab tech who was able to hit a vein with the first try. This was worth celebrating! When the blood work came back, we found out that medication changes were required since his renin level was off and his potassium was up again. This was bringing back too many memories of the potassium battle exactly 1 year ago. We were to increase his Florinef dose but this made me nervous because his blood pressure usually increases when Florinef increases....thankfully, we had an apt booked with Carlin's paediatric nephrologist within the week. At that appointment, he found that his blood pressure was slightly increased so we were to increase his blood pressure medication slowly over the next 2 weeks. There were no other concerns from this doctor but we are to expect an appointment for a repeat echocardiogram to monitor the aortic dilation that was found at a previous echocardiogram when Carlin was 6 months old.The next week we travelled to Saskatoon to see Carlin's paediatric endocrinologist. He was very happy with everything, but since Carlin has grown, it was time to increase his hydrocortisone dose. This is something I fully expected since he has been on the same dose for quite a long time.
On August 20, one day before Carlin's 1st birthday, we had a small family gathering to celebrate this special little fella's 1st birthday!!! We had a John Deere theme and Carlin got so spoiled. I have a hard time putting into words what the last year has been like for us. It has been the most amazing, scary and emotional time becoming first time parents. Any of the medical struggles we have had, have only brought us all closer and I couldn't imagine my life any other way. This little man has brought so much love and laughter into our lives and I would never choose to have it any different. I am thankful that I can be a stay at home mom to this little man. Nursing as a career for me is on the back burner for now, but the knowledge I have as a Registered Nurse has been a benefit many times. Everything happens for a reason and I am willing to embrace it all.
October 30, 2017
We have had a great healthy summer and have almost got through harvest. Carlin is growing and changing so fast. He started walking when he was 13 months old and is now to a full on run and so am I! Just before Thanksgiving, Carlin got a chest infection and we battled some nasty antibiotics and two weeks of nebulizers four times a day and extra steroids. Thank goodness Carlin is such a good kid and doesn't fight us too much with all this medical garbage.
This past week, we noticed Carlin was falling ALOT more than normal. He couldn't seem to keep his balance so we figured it could either be related to his blood pressure or maybe an ear infection. Mike and I took his blood pressure at home, and saw that it was elevated slightly but rest assured, we had an appointment booked at the paediatric out-patient department in two days for a blood pressure check and blood work. At the appointment, poor Carlin seems to be getting old enough that he is scared of anyone medical at all so it wasn't so much fun. His blood pressure results were the same as ours so his blood pressure medication was increased again. Blood work showed that his potassium and sodium are at acceptable levels but the rest of the results take a few weeks to come back so we patiently await them. The following day, Carlin's health seemed to be deteriorating so on a Friday at 2:00, I decided I didn't want to wait this one out over the weekend, so we got into see Carlin's paediatrician. He looked at him and saw that Carlin had an ear infection and throat infection. We are currently on 10 days of antibiotic and stress dosing one of his steroids. A stress dose is more than double his normal dosage of hydrocortisone. Hydrocortisone is the medication that replaces the hormone cortisol. When we get sick, cortisol increases to protect the body and help maintain hydration, blood pressure, electrolytes and blood sugar levels. When Carlin get sick, his body doesn't make any cortisol at all, so we must decide when he needs extra steroids. Its a bit of a guessing game and at this point, we aren't sure when he will be able to go back to his normal maintenance dose.
Fingers crossed, Carlin is healthy and happy to go trick or treating tomorrow!
November 2017
How long do we live under a rock.... a little longer!
On our honeymoon, mike and I went on a road trip and ended up in Rapid City, South Dakota. We stayed at a hotel that was connected to South Dakota’s largest indoor water park. We had so much fun just the two of us, that we knew we wanted to bring our future children back. Fast forward to November 2017. Carlin was now 15 months old and doesn’t love anything more than water. We were caught up with fall jobs on the farm and decided it was time for a small getaway. We packed the Suburban full with Grandpa and Grandma Case in tow. We drove to Bismarck the first night and went to Mike’s all time favourite restaurant “Cracker Barrel”. After a supper and breakfast there, we carried on to Rapid City and hit the water park. Carlin was in his glory. We swam, we shopped and we ate. All was good until our third night into the trip and Carlin woke up vomiting. This is a scary thing for anyone with CAH because they require more medication, that often times isn’t tolerated orally. I gave him his injection and we had to make a game plan. After speaking with his specialist in Saskatoon, we decided to hit the road home and continue to re-inject along the way. We were prepared to go to the hospital in Rapid City if we needed to... but Carlin didn’t have any insurance to cover the costs. Now you will probably be thinking... why in the world, would we go out of country without insurance. My answer is... we discussed it many times before we left. Carlin didn’t qualify for travel insurance because he has had medication dosage changes in recent months. We discussed what we would do if he got sick and we were prepared to pay dearly, if Carlin needed the health care. We want to provide Carlin with a normal life and do not want him to think he is any different than anyone else. We want to provide him the memories we had as children and sometimes risks are involved.
We made it home from our trip and Carlin was fine. After the one injection, he was able to tolerate his oral medication and slept the majority of the way home.
So our question continues... how long do we live under a rock....a little bit longer! Grandpa suggested maybe we try the water park in Edmonton.... with Canadian health care.
December 2017
Merry Christmas??
Carlin has decided to go on a hunger strike. This is out of his normal character since anyone who knows Carlin, knows that his day revolves around food. He loves to eat. On day 5 of minimal food and fluid intake, we decided it was time to take him to his pediatrician for a quick once over. Christmas is coming and we want Carlin happy and healthy. After blood work and a urine sample, nothing was found and we went home trying to push fluids. Carlin had a rough night with flu like symptoms and was unable to keep his meds down again. It was time for emergency to get some answers. Before going to the hospital, I gave him his medication he needed by injection. After many hours in emerg, 4 sets of nurses and 11 iv attempts, an anesthesiologist was finally able to get Carlin’s iv started. He was given his steroid via intravenous and some fluids to combat his dehydration. Off to the pediatric unit we went where we only had to stay for 24 hours and Carlin was getting back to his crazy self. We were all so happy to get home and rest up.
Merry Christmas and a Happy New Year
January 2018
After Carlin's hospitalization just before Christmas, his paediatrician wanted to see him for a quick check up. He was very happy with how Carlin was doing. It was a good opportunity for us to talk to him about our concerns regarding how difficult it is to get an IV access. Rather than being proactive with his potential for dehydration, we seem to be waiting too long and end up with a battle on our hands. After seeing the happy Carlin that we see every day, his doctor decided that we will have a very low tolerance for admitting Carlin when it is needed, in hopes of beating the dehydration before it happens. We were very happy with this decision.
February 2018
We are happy to announce that we have had a healthy 2018 so far (knock on wood!!!). When we found out about Carlin's high blood pressure when he was 4 months old, hid doctor wanted to check up on his heart to make sure his high pressure levels didn't cause any damage. This was done by doing an echocardiogram. It was done at the Regina General Hospital in February of 2017. Results were sent to a paediatric cardiologist in Saskatoon. The results showed a dilation of his aorta. As an RN who worked cardiology in the past, this concerned me but both Carlin's specialists reassured me that as he grows, he will grow into the increased size and all will be fine, but to be sure, a repeat echocardiogram would be done in one year and that time has come. I was super worried about Carlin being able to lay still for long enough because the test takes about 30-40 minutes. I'm so happy to say that Carlin was so patient, he laid on the bed with his dad and together they watched Backyardigans. Step one was a success and now we await the results.
It was time for Carlin's quarterly bloodwork. Again, I was worried about this because he's so strong and in the past, has fought getting any poke (for obvious reasons). If you haven't already, you'll soon figure out that I worry about everything when it comes to Carlin but it's time I learn that Carlin is out to prove me wrong. We go to the paediatric out patient department at the general hospital where the nurses help me advocate for him and his difficult veins. The nurses wrapped him in a nice warm blanket and the lab tech drew his blood without any issues. What a relieve. First poke and Carlin tolerated it so well. We made our way to Robin's Donuts for a celebratory bagel. I try to always do something fun with Carlin after his appointments. We will find out the results of this blood work at our next endocrinology appointment in Saskatoon.
March 2018
We had a successful 18 month check-up with our paediatrician in Regina. He was happy with everything regarding our little man. His blood pressure was in the acceptable range so we discussed the possibility of trying to grow out of his dose of blood pressure medications. In all honestly, as much as I would love for Carlin to be on one less medication per day, he doesn't seem to experience any side effects from it, and it was such a battle to get his blood pressure within an acceptable range, I have to admit that I am comfortable with continuing the medication. Weaning off the blood pressure medication will take a lot of blood pressure monitoring at the hospital as well as at home.
This appointment was FINALLY the day we would get results from Carlin's echocardiogram which was done to determine that status of his dilated aorta. The good news is....everything with the echocardiogram was good! The bad news is.... the technician who performed the echocardiogram did not check the aorta for the dilation.... so we are still without answers at this point. This frustrates me, but I need to take the doctor's word for it that everything is ok. That being said, I will be VERY happy when we are able to repeat the echocardiogram again and get the answers we are looking for.
We are finally up to date on all immunizations. Carlin was approved by the medical health officer to receive extra immunizations so we have been spending the last few months getting caught up on everything he needs. I LOVE the fact that he has extra protection against illnesses that could really take him down.
In other good news, Carlin's nurse called and said that his most recent blood work came back perfect and there was really no need to see him until June, unless we had any concerns. Things are going well!
At the end of March, Carlin and I were asked by Teddy Bears Anonymous to join them on the CTV morning show to help promote their charity. Of course we jumped on it and Carlin stole the hearts of many. To view the video, click the button below.
Hunger Strike Strikes Again!
April 20, 2018
The last few months, we have really been struggling to get Carlin to eat. If anyone know Carlin, knows that this is out of his norm and is usually a sign that something is off. With everything we stay in tune with, I tell myself that he is still a kid and maybe thinks he is too busy to eat and this could just be another stage. We weren't super concerned until we found out from the public health nurse that Carlin has gone from the 90th percentile, to the 60th percentile in a few short months. We were trying to encourage him to eat with whatever we could but it was a steady decline. I called his endocrinology nurse in Saskatoon to keep her updated. The next week, Carlin was refusing to take anything by mouth, including water. These CAH kiddos dehydrate very quickly and water is super important. We decided to get out of the house and go for drive with Mike to White City. On the way there, I decided it was time to try and get him an appointment with his paediatrician in Regina just for a quick check up, in hopes he would give us the thumbs up and say he is just a busy toddler. Unfortunately, his doctor was on some much deserved holidays. We debated if we should try and get him in elsewhere, or sit it out and keep doing what we were doing. That debate lasted about 2 minutes until Carlin vomited and Mike and I both said, enough is enough, lets head to Emerg and try to get this figured out. After a few hours into our Emerg visit, Carlin was feeling better with extra steroids on board and some anti-nauseant and was acting his wild self. I was second guessing myself ALOT while I was watching him run around the room, but knew deep down that he still wasn't peeing, indicating he was getting dehydrated. We were admitted to the paediatric unit, 4 IV attempts later, we had fluids and steroids running. No more vomiting and we were in the clear to head home. We decided to try a medication to protect his stomach from the medications he takes daily, in an attempt to combat these random vomiting episodes. We all happily packed up and came home. Carlin was loving live and back to himself! He was eating, giggling and back to being a wild boy. Celebrate!
Celebrate!...But Not for long...
May 1, 2018
With spring finally arriving, we have been outside doing a lot of yard work. When Carlin naps, I grab his baby monitor and run outside like a mad woman, trying to get as much done as I can while he is asleep. This was good, until the monitor fell out of my pocket and the screen quit working on me. I ordered another one online, but while we waited for it to arrive, we would be without. I really didn't feel like it was a huge deal until one afternoon, Carlin went to sleep for a nap around 1:00 and by 5:00 he still wasn't up. I didn't second guess a long nap because all the fresh air he has been getting can really tucker a kid out. I decided it was time to go check on him, and one of my worst fears came true. He had vomited in his sleep and didn't cry out, so I didn't know. Vomiting for those with CAH can be a sign of an adrenal crisis, meaning he was low on cortisol. I felt horrible. Carlin was white as a ghost, extremely weak and lethargic and needed his medicine NOW. I think he had been sick a few times in his crib, but was too lethargic to cry out. I called Mike into the house because I was going to need another set of hands. I tried to give him an anti-nauseant before his stress dose, but nothing was staying down. It was time to give the emergency injection and head back into the emergency department. It appeared we had more things to figure out. Carlin was beginning to perk up a little bit by the time we go to the hospital, but kept wanting to fall asleep on me while driving there. Whether he was just tired, or very sick, I'll never know, but I do know that it is very scary and I'm always glad once we get to the hospital. We got into a room right away and doctors and nurses were helping us out immediately. We were all scratching our heads trying to figure out why these random vomiting episodes keep happening but one thing is for sure, we all agreed that he was low on cortisol. Another night on the paediatric ward and we were discharged home, awaiting a call from his specialist in Saskatoon. We discussed different dosing options and things we could try in the future, but for right now, we decided to increase his dose of hydrocortisone and cross our fingers!
July 30, 2018
I am happy to announce that we have had a fairly uneventful summer! Summer is definitely Carlin's time to shine! He loves the outdoors and seems to feel great. In the past few months, we have had a checkup with his endocrinologist in Saskatoon, his nephrologist in Regina with a few changes to medications. Both doctors agreed that things are going great with Carlin and theres no reason for concern at this point. The nephrologist has been happy with his blood pressures and suggested we try weaning him off his blood pressure medication, which we have started to do today. Fingers crossed he tolerates it and we can continue and he can eventually be off it completely. A repeat echocardiogram has been scheduled for September to check up on the dilated aorta that was found when he was just 5 months old. This is always something that has been in the back of my mind so I will be happy to hear the results.
Once July hit, Carlin was feeling good, but was not himself and was acting very angry...I would call it "Roid Raging". He was very angry and getting violent around others. This is can not be tolerated, but we knew this was not his character. After communicating with others with CAH and doing more research on potential dosing changes, we chose to change his dosing to what is called "circadian dosing". Circadian dosing mimics what the normal body would produce for cortisol and prevents cortisol peaks and lows. We now give his hydrocortisone 4 times per day and we aren't done giving medication until 11:30 pm...yawn... Its been a struggle for me to adjust to, but I'll do whatever I have to do. After about a month of this dosing, I can say that his attitude has calmed down and he his back to his happy self. It was another successful change and with any luck, it may prevent future adrenal crises for unknown reasons.
Last Sunday, Carlin took a tumble out of Grandma and Grandpa's camper so we have been doctoring a little bit to ensure everything is ok there. This morning he had a x-ray of his hips. I'm sure nothing is wrong and his limp is a result of stiffness.
I just love our summers together and this little man brings so much joy to our lives, I can't believe I am now starting to think about planning his 2nd birthday!!
Thanks for all the love and support from everyone. I can assure you, it doesn't go unnoticed.
Happy 2nd Birthday!!!
August 21, 2018
Carlin was lucky enough to get two birthday parties. We had a few of his little friends over to play outside, swim, eat hot dogs and have birthday cake. It was so much fun and we are so thankful for all his friends. The following weekend, we all got together as family and spoiled Carlin more than he is on a daily basis. Thank you to everyone who joined us.
October 17, 2018
Since changing Carlin's hydrocortisone medication to 4 times a day, his entire attitude and temper has improved and he is back to himself. He is still a 2 year old boy but thats something we don't want to change. His blood pressure began to improve since making this dosage change, which I had heard from other CAH mothers could potentially happen. We had an appointment with Carlin's paediatric nephrologist who suggested we try weaning him off his blood pressure medication. I was hesitant but we would do it with lots of monitoring and trips into the pediatric outpatient department for blood pressure checks. We got his blood pressure checked each Friday and if his systolic number was 100 or below, we had the thumbs up to decrease his dose by 0.5mg. Week by week, we continued to decrease his dose and it wasn't long before he was off completely and his blood pressure was good without any medication at all. One less medication per day is such a celebration. We still monitor his blood pressure at home and at doctor appointments, but that is a good compromise for no blood pressure medication.
Carlin's last echocardiogram was in February and it was time to repeat it, to keep an eye on the aortic dilation. Mike was busy combining so Gramma and Pop Pop Case came with Carlin and I to the General Hospital for his 3rd echocardiogram. I was well prepared with a fully charged phone for youtube tractor videos, blue whales and popcorn twists. This test can take up to 30-40 minutes of laying still to get good pictures of the heart and it's function so we needed to entertain Carlin as much as possible. As he gets older, he is getting more nervous of anything medical and has even begun saying "I don't like" as soon as we drive into the hospital parking lot. Pop Pop Case promised him a new CASE tractor after the test was over, so with much discussion about the new tractor, the test was over and we were on our way over to Youngs to pick out his new piece of equipment.
Many months ago, I applied to an organization out of California that provides teddy bears to children with rare diseases. Volunteers quilt each bear so that each one is unique and personalized to each child who receives it. I had forgotten about doing this, but much to our surprise, Carlin received his in the mail in September. We are so thankful for so many wonderful organizations out there to support children like Carlin.
Thanksgiving was spent with both sides of the family this year. It was nice to get a chance to visit with everyone. Carlin started to feel unwell on Thanksgiving Sunday and spiked a fever while we were in Coronach. We stress dosed him, gave him Tylenol and Advil to try and get his fever down but it was a stubborn one. Once the stress dose kicked in, he started to feel a little bit better but this was the beginning of a 4-5 day fever battle. We had an appointment with the paediatrician that week so he checked him over and was unable to find a reason for the fever. We got a urine sample and did blood work to make sure it was neither but in the end, nothing was found and Carlin ended up improving on his own. It truly does get easier as they get older!
As for Carlin's echocardiogram results, he still has the aortic dilation so he is being referred to paediatric cardiologist on a non-urgent basis to follow up, so we will await a call in a few months time.
Merry Christmas and Happy Holidays
December 15, 2018
Carlin has had a very healthy few months and we hope it continues for the Christmas season. We all have our flu shot and we do our best to practice proper hand hygiene and we try to avoid areas that could be potentially germy. A couple weeks ago, it was time to get Carlin's blood work done again so while we were there, we also took his blood pressure, which showed to be a bit high. We decided to wait a week and return to the paediatric outpatient department for another blood pressure check. The following Friday we went back, but we were unable to get a blood pressure on the machine. Poor Carlin couldn't sit still long enough and he was petrified. Tears streamed down his face and I called it quits. I don't want to scare him any more than he already is, he has a long medical journey ahead of him and we need to be conscious of that. I was able to get his blood pressure with a new manual paediatric cuff at home. I involved Carlin in the process and he happily let me get the blood pressure. The good news ends there. The pressure was quite high and it made me nervous. I took it again in his sleep and it was still high so we monitored it for the weekend to make sure it didn't get any higher. Luckily, Carlin's regular appointment with his endocrinologist was the next Monday. For the first time, Carlin had an x-ray of his hand done to determine bone age. Carlin's doctor was very happy with the x-ray so this indicates that we have been treating Carlin properly since he was diagnosed. We were all super happy to hear this. The doctor was also happy about his blood work, so there weren't any required dosage changes there, but his blood pressure continued to be too high in the clinic so the doctor decided to restart the blood pressure medication that we successfully weaned off in August. We will continue to monitor his blood pressure and will follow-up with Carlin's paediatrician in Regina soon after Christmas.
A Sick But Successful Christmas
January 23, 2019
The tree was up and the presents were wrapped. Carlin had shook each ones and he was ready to "open it, open it" every day. A few days before Christmas, Carlin came down with his traditional Christmas Fever. He was coughing but he wasn't showing any other obvious signs on sickness or infection so we were managing at home with stress dosing and Tylenol. Since restarting Carlin on his blood pressure medication, we have been closely monitoring his blood pressure but on the evening on the 22nd his blood pressure was too high for comfort. I gave a quick call to the paediatric endocrinologist on call and he agreed that the blood pressure was too high and that we should get into the ER to be seen by the paediatrician. As luck would have it, a friend of mine was working in emergency that night who tracked down our paediatrician who just happened to be on call and he was ready and waiting for us at the door. Service doesn't get much better than that! He checked Carlin out and didn't see any obvious reason for his fever so we decided we would cross our fingers and hope he would get over things himself. His blood pressure was still measuring high in the hospital so the paediatrician increased his blood pressure medication and we would continue to monitor it. We were home within the hour. So thankful for friends who work in the hospital!
Christmas Eve came, and Carlin was still battling hard and he was still getting sicker. His fever was 39 degrees with both Tylenol and Advil on board. I asked him if he was ok and he said, "No, doctor." A quick message to the doctor and we were heading into the pharmacy to pick up many prescriptions to get him feeling better quickly. On Christmas Eve night, we were debating postponing Christmas morning until Carlin was feeling up to it and would enjoy Christmas, but as I have always said, he gets very sick fast, but luckily, improves just as fast. He was finally able to get some sleep and was ready to open presents Christmas morning. Santa came and brought him a tractor to fix and tools to do the work. We were able to spend Christmas with both families and had lots of fun.
Spring Has Sprung
March 25, 2019
I can't sit here and say that things have been easy lately, I wish I could. We are celebrating the beautiful weather and hoping it helps Carlin get back to his normal self. Everyone in the house has been battling colds that seem to want to linger and not leave. The same goes for Carlin. Some days he has a fever which requires a stress dose and some days he seems fine. The yo-yo effect of the steroids is hard on his and affects his attitude as well as the way he deals with things. He gets short tempered and his emotions go from high to low in a quick minute. We have been noticing lately that he has been downright sad...it is so hard to watch and not really know what to do to help him. His cold finally came to a head on Saturday as he wouldn't go sleep in his own bed on Friday night because he said he was "really really sick mommy". How heartbreaking is that?? He ended up sleeping with us (which is a rarity in itself) and it was a good thing he did. He woke up lots choking while coughing as well as with a scary fever in the morning. We were debating going to the ER or the doctor, but we were able to get into our normal clinic who was unable to find a specific source of the infection but was willing to treat anyways. I am so thankful for the medical teams who listen to the parents voice when we just know something isn't right. Within 24 hours, Carlin was returning to normal as the antibiotics had begun to work in a hurry. We cross our fingers that things continue to progress in the right way because a sick kid is difficult but a sick kid with added complexities is really tough on a mom and dad.
Life is Tough, But I Am Tougher
April 9, 2019
If you were to ask how things are going lately, I would be happy to say that Carlin is finally over his cold and back to healthy. Emotionally, he is a mess. When I talk about this with others, I often get, well he IS two years old. I often reply with a hesitant ya... you are right, and leave it at that. It is more than that. He is a two year old boy who relies on steroids to keep him alive from hour to hour. If anyone is familiar with steroids, you know that they are hard on emotions, anger flies and they make it very difficult to sleep. All of this is going on and compounding upon themselves. Carlin has troubles falling asleep, often times laying in bed with his eyes wide open until 10:30 or 11:00. I am heartbroken for him but I’m at a loss of what to do anymore. He stays awake late and sleeps good once he is finally asleep, but he’s not getting enough sleep in the night for a two year old with as much energy as he expels.
I have heard from adults with CAH that their emotions can fly high, they get angry easily and even break down into tears at the slightest decision they need to make. I need to remember this when working with Carlin but where is the balance between discipline and the condition. I don’t know and I’m not sure I will ever know. I feel horrible that he has had to endure everything he has in his two short years and I’ll be the first to admit that I spoil him. I don’t talk about it, but of course I have a fear that sometime I won’t pick up on the first signs of an adrenal crisis and it would be the last time I could spoil him... but it is reality, just not one I’m about to face.
Dealing with a rare condition means that not everyone has the answers. I have spoke with our doctor who is wonderful and always willing to help but I can’t expect him to have all the answers for me when little research has been done for increasing the quality of life for those with CAH. It takes a lot of experimenting, self research and speaking with others who also have CAH. I am thankful I am (was) a nurse and have the a basic understanding of our crazy bodies.
Now I have gone on a rant, but if you read and remember nothing else... Please, if you see a child “being bad” or misbehaving and the parents are struggling... Please no judgement. We don’t know each others stories. Everyone needs to know they are supported. Everyone has their own battles.
Has it really been almost 3 years since my last update??
January 7, 2023
Wow! I was just skimming over the last few updates I made...which seems like a lifetime ago. So much has changes, but so much has stayed the same. I'll try to give you the Reader's Digest version of the last few years but bear with me! So let's start out with two new additions to our family... The date of my last post is significant. It is the day I found out I was pregnant. Adding to our family, knowing that we had a 25% chance (1 in 4) of all our future children having CAH was a decision that was extremely difficult. What seemed like a daily discussion, we finally decided that yes, we would like a bigger family. We knew we would do what we could to be a prepared as possible. At 9 weeks pregnant, I began taking a steroid in an attempt to prevent the need for future surgeries in babies with CAH. At a certain point in the pregnancy I could have an amniocentesis to find out CAH status of the baby....but in our case....it was BABIES. Yep, not one, two babies. I was fully prepared to have two more kids with CAH, and any other news was going to be a bonus. I now not only had to have one amniocentesis, but two...one for each babies. Samples were sent off to be tested genetically and within a few weeks, we found out that both babies were free of CAH and weren't even carriers. So much excitement! I was able to wean off the steroids and continue with the pregnancy as long as the babies would keep cooking!
A Pandemic??
So now we enter into a pandemic... with a medically complex 3 year old and 4 month old twins. To say it was overwhelming, is an understatement, but we made it out! Hand sanitizer and avoidance of germs was nothing new to us as we had already been avoiding large indoor gatherings and anyone with illnesses. I often say that the rest of the world was now welcomed into ours and we didn't feel so alone. Waiting for the vaccine to be approved seemed like a lifetime. When thing began to open up, and life began to progress to more normal, we were excited by hesitant. Carlin was always great with wearing a mask, but the twins were too young to keep it on for it to be effective. Carlin's first home hockey tournament was an event we mulled over a lot. Do we all go, support Carlin, and chance getting covid? Do we divide and conquer? Or do we throw caution to the wind, and go as a family and enjoy the day. So that's what we decided to do. We all went to watch Carlin play hockey. We cheered hard, ate rink burgers, ate candy bags and had a blast! Fast forward a couple days and we were swabbing Jimmy and saw an instant positive line. Jimmy had Covid. I remember shaking, crying and being SO worried about Carlin. I called the pharmacy and stocked up on all his medications because it was only a matter of time before he was positive as well. Within a few days, we were all positive, but doing surprisingly well! I was worried about not being able to look after Carlin and the twins well enough if I was too sick, but everyone did so good. Everyone had a day long fever, a few sniffles and a quarantine family time! All in all, I could have saved the tears but the unknown associated with the pandemic, was a huge stressor. Looking back, the pandemic was actually Carlin's healthiest time of his life. The hand washing, sanitizing, extra cleaning and masking was a huge help.
Travel to Saskatoon for medical appointments was halted by the pandemic and everything was done by phone. This was fine for regular appointments, but proved to be a challenge when looking for emergent appointments.
Carlin has done well the last few years but has also endured many challenges. Physically, he has been quite well. There have been minimal hospital stays but much research into the mental health side of CAH. Since Carlin was 2 years old, we have had problems with emotions. I have continued to fight for Carlin so he can be the best version of himself he can be. His potential is huge and he deserves to feel his very best. For many years, I have researched a test that can be done to help determine how much medication is needed, and specifically when it is needed. I pushed and pushed for it to be done locally. Our medical team was hesitant so I reached out to a CAH specific doctor in the UK via email. I told him what was going on with Carlin and what we would suggest. He did recommend the same test I had been researching and also mentioned being willing to walk our doctor through it and help him understand the results. What a huge help! In March of 2022, we were prepared to travel to the UK for the test but I got a surprise call and our local doctor was ready and willing to replicate the test. I was SO excited. It wasn't easy on Carlin, as there were some bumps in the road, but we stuck it out, with lots of presents, lego and bribes, and got some great results. We now know more approximate times that Carlin's body requires the medication and that guessing game has come to and end. I was so happy to get those answers, as we could now proceed with Carlin's mental health, knowing his medication dosing is as good as it will get.
The summer of 2022, Carlin was sad. Eighty percent of his day was spent crying, being sad or hanging his head. We couldn't "snap him out of it". He needed help. We tried everything we could to help him. He had been going to therapy, which was very helpful, but he still needed more. Seeing him like this was absolutely heart breaking. Seeing a 5 year old going through big emotions, that he was too young to understand, was absolutely heartbreaking. I booked an appointment with his doctor and we had a new diagnosis....depression...in my 5 year old. I feel terrible. Is it something we did? How is he so young with depression? As any parent would, I will never stop second guessing my parenting and wondering if there's somewhere we went wrong.
By October of 2022, we were able to see our specialist in Saskatoon in person. It was a great appointment. Carlin has been growing perfectly, he's physically well and HE IS HAPPY!! We spoke with his specialist regarding his new diagnosis and unfortunately, he wasn't surprised. He discussed how CAH and mental health troubles can go hand in hand. Other discussions that occurred during this appointment was one I didn't expect. We learned new information about how high levels of testosterone affect an infant's brain in the prenatal period. The prenatal testosterone causes parts of the brain to advance at unnatural speeds. I came home and researched, researched and researched. My goal has been to learn as much about CAH as I can, so I can help Carlin in the best way possible. He deserves the best care and I am determined to do what I can to help him, as well as others with CAH.
So now, we are planning our first large Fun Run since 2019 when covid cancelled those for a few years. Carlin is beyond excited and so are we. Our next fun run, Carlin and Friends 7th Annual Fun Run for CAH will be on Sunday, June 11, 2023 at 2:30 at the Rick Hansen Optimist Park in Regina. We look forward to seeing you all there!
A sick month followed by an exciting week
March 6, 2023
We have had an eventful time since new years! January, February and March were filled with trips to the ER, stays in the hospital and a week in the tropics on a family trip!
With the massive amount of germs floating around, Carlin has had a rough time. He seems to get sick quite easy and when he does, the safest place for him to be is hooked up to an IV in the hospital. We have got the process down to a fine art and so do the medical staff! He gets sick and goes downhill extremely fast, but recovers just as fast!
His last time hooked up to an IV in the hospital was just 10 days prior to an exciting family trip we had planned. Timing could have been better, but luckily his recovery time was minimal as usual and we were able to surprise him and the twins with a trip that I never imagined we would ever be able to do. The kids all got to get on a plane for the first time, head to Florida to stay on a beach resort then carry onto a 4 night cruise in the Bahamas. The entire trip was perfect and was so nice to see the beaming happiness on all the kids faces. Thinking back on it, I still get tears in my eyes. When Carlin was diagnosed, we were uncertain about what and where we could go. We have quite honestly just rolled with it since the day he was born. I never imagined we would be able to get him travel health insurance and head to the beach in the dead of Saskatchewan winters. With much preparation, a letter from the specialist, a lifetime of extra meds and emergency injections, we were on the plane and lifting off! First stop onto the cruise ship was lunch, the pool and then the medical centre that I am so happy to say we did not have to visit. The week went by way too fast and quite honestly, I hope we get a chance to do it again sometime. We had lots of laughs, fun and new experiences as a family with Grandpa and Grandma in tow.
The tear filled thank you and hug from Carlin when we got home made all the preparations worth it.
Specialist Appointment in Saskatoon
May 3, 2023
It was specialist day in Saskatoon today with only good news to report!
One of the aspects of CAH that gets monitored in kids is height and bone age. We keep a close eye on his height with a growth chart. Bone age, we watch by getting x-rays done of his hand and someone seems to have the magic powers to determine chronologic age by assessing the bones and joints in his hands. It is ideal to have the same bone age, or less as the years old you are. This tells us if hydrocortisone dosing has been correct in the past or if improvements needs to be made. If it is determined that the bone age of the child is too old, their growth plates will begin to fuse too early, growth will stop and puberty will begin… this is definitely something we don’t want to occur too early.
Last fall Carlin’s bone age was perfect and his growth chart was excellent today as well. His specialist said that often times around his age is when we might start to see the height falling off the charts but he was quite happy to see it was still right where he wanted it.
With 6 years of trial and error with medication dosing, we know that when his blood work finally shows he needs a dosage increase, it’s far too late and we are struggling far more than we should be. Today blood work was fine, but with a weight increase since his last appointment, we decided a proactive dosage increase would be the best and avoid what seems like a lifetime of struggles.
Hurray to starting to figure things out and hurray to a great day! It’s always a relief to have these appointments behind us and now we get to carry on with summer!
Summer 2023
It was finally summer and we were happy to have Carlin home every day to enjoy the beautiful weather and go on some adventures. Plans had to change quickly when a lack of schedule proved to be extremely difficult for Carlin to adapt to. There have been many struggles in the past that we have not been quiet about. Many doctor appointments, trials of medications and therapy appointments, it was brought to our attention that a lot of our struggles sounded a lot like ADHD. I have often wondered about this being a possibility but never quite understood the very large umbrella of symptoms that fall under an ADHD diagnosis. Thanks to Carlin's therapist, we left with some hope and more research to do. An urgent paediatrician appointment, emails back and forth to his specialist in Saskatoon, everyone was agreeable that a trial of ADHD medications would be beneficial. We continue to be so lucky with our medical team on our side. They are always willing to hear about what's going on and help us in any way possible. Fast forward to the end of summer, after trialing a few different medications, we now believed we could attempt to wean him off his anti-depressant which was started a year ago. Watching a child wean off such medication is so difficult but we knew we could support him along the way and are happy to report that we believe we are heading in the correct direction with a child who says his mind feels so much better with much more self control. It is too bad that our summer plans had to change a bit, but we are thankful we had to the time to really get things figured out. Kids don't deserve any of this, but we will continue to fight!
Random fact: Almost 20% of boys with congenital adrenal hyperplasia also have ADHD!