My head hurts. This is a pretty common phrase that is heard if you have children. But, this time it was different. This wasn't just a "headache". One morning in late February of 2021, Brooke (almost 13yrs old) woke up and upon standing, she got a sudden, sharp, and severe pain in her head. She felt lightheaded and dizzy. I had her lay back down... and the headache went away. It was super weird and out of nowhere. These episodes started out very randomly and over time they increased in frequency and severity. I initially thought maybe she had just stood up too quickly causing her blood pressure to drop, but even getting up slowly didn't help. At first, this would only happen upon waking in the morning. If she wasn't able to lay back down, the headaches would eventually fade away after some time, but it was pretty miserable while they lasted. I was able to get her in with a neurologist in June of 2021 and she was diagnosed with migraine and we began trialing some medications. By trialing medications, I mean failing medications. Literally ALL of them. Over the years she has tried SO many preventative and rescue meds and not a single one of them helped reduce the headache. All she got from meds was the side effects- both neurological and gastrointestinal. Her headaches persisted.
In December of 2021 she was super sick and we couldn't figure out what it was. Eventually a blood test was done later showing she had recently had Mono, so we think this is when it was. She finally felt better for about a week and then she got COVID (January 2022) for the second time (the first time was in Nov of 2020). That February we were back at the pediatrician's office for continued malaise, headache, and stomach pain. Labs showed High IgG and high Nuclear Antigen, but said that was likely from the EbV infection in December. In April, I took Brooke to the ER on the 6th day of a migraine that was unrelenting and she just couldn't handle it anymore. They administered the "migraine cocktail" of IV Benadryl, Toradol, and Zofran in the ER and it reduced the pain, but only for a very short time. The migraine rebounded and she ended up admitted for 3 days and 2 nights for DHE (Dihydroergotamine) migraine infusions and IV magnesium. This was ROUGH! After three days she did feel better, but headache wasn't completely gone. It was better enough for her to be able to handle it though, so we went home. That July Brooke got COVID for the third time. Interestingly, no one else in the house got it that time.
One month later, at the end of August, Brooke hit her left temple on a table retrieving a ball that had rolled underneath of it. I brought her to the ER two days later because of a migraine that wouldn't go away. She was given intranasal Ketamine to break the migraine instead of the "migraine cocktail" and it helped. However the doctor said if the headache rebounded when she returned to normal activities, then she'd need to follow up with her Pediatrician for a concussion evaluation, because it was hard to know if this was migraine, concussion, or a little of both. Of note as well, her pupils were dilated and unequal. She saw the Pediatrician the next day and it was determined that she did have a concussion. Brooke was referred to a concussion specialist who then referred her to weekly vestibular physical therapy and eye therapy since she had a lot of dysfunction with both systems. Her concussion specialist ordered an MRI because of no improvement in concussion symptoms and ordered labs due to persistent nausea and stomach pain. The MRI and labs were unremarkable.
At this same time, her neurologist ordered Botox to try for her migraines since she had failed all of the medications and interventions she had tried previously. At this neurology appointment (Sept 2022), I mentioned her decreased appetite and abdominal pain. All along we had thought these were related to medication side effects, but now as I look back, maybe this was all related to the underlying conditions that we weren't aware of (and are just now figuring out). On Sept 27th she was back in the ER for another multi-day migraine and was given the intranasal ketamine again to break it. Her first migraine Botox appointment was in early October 2022. The thing about Botox for migraines is that you can only have it done every 90 days and unfortunately, it isn't designed to work immediately. So, we were excited to get it started, but knew not to expect much relief, if any, after the first round or two of injections. It has a cumulative effect, so it works better after having it done again and again. It also takes some time for it to "kick in" once you get it. For Brooke, we have noticed that it tends to wear off a couple weeks before she is due for her next round. Once she gets the injections, it typically takes about a week for the migraines to calm down and go away. That said, she has not been to the ER or hospitalized for migraine since we started, so we call that a win! She's been close, but has been able to tough it out at home. No OTC or prescription meds touch them still. At the beginning, I felt that her options for migraine meds were somewhat limited due to her age and being too young to be able to take the newer CGRP inhibitor meds that were all indicated for 18+. However, after seeing a headache specialist, he was able to give her some off label to try and she had no success with them either.
Also in October of 2022, I took Brooke in to the pediatrician for extreme stomach pains and nausea that she was having right after eating. It was odd because she would have severe pain almost immediately- before the food or liquid even had time to reach the stomach. She was diagnosed with gastritis and given meds (Sucralfate) that did help.
In November of 2022 she was referred to an ENT by her concussion specialist to see if there was anything else going on that could be causing the headaches or prolonging recovery. She wanted her sinuses and ears to be looked at just in case. The exam and hearing test were normal and the doctor ordered a CT of her sinuses. Brooke has had sinus issues and infections since she was very young, but all looked good besides having a deviated septum.
In December of 2022, we were back at the pediatrician for abdominal pain, nausea, and severe constipation. She was prescribed Lactulose. A couple days later she was in the ER for continued GI issues and RLQ pain. The workup scans and labs looked good, but she was referred to GI. We were able to see GI soon after. They ordered more lab work and suggested the possibility of IBS or abdominal migraine. Abdominal migraine had been brought up when she was younger too and having persistent stomach pains.
Even though we had been seeing a neurologist for Brooke's headaches, a friend of mine had been encouraging me to take Brooke to see a headache specialist to get another set of eyes on her. I was hesitant as we were pretty "doctored out", but we got to a point where we were desperate for help since nothing was helping the positional headaches. He agreed to review her history and said that he would only take her on as a patient if he felt like he could help her. After reading her history and symptoms, he said he wanted to see her in January of 2023, and he immediately presented the idea of a Cerebral Spinal Fluid (CSF) leak causing an orthostatic headache called Spontaneous Orthostatic Hypotension (SIH). He said that there was a few doctors in the country who specialize in CSF leaks and that he personally knew one of them, Dr. Callen in Colorado. He said he would reach out to him and let us know what he thought. At this point, Brooke had many MRIs done and all had been read as "normal". We have learned though, that "normal" is subject to interpretation. A specialist can see things that a general radiologist may not be aware of or even know to look for. Brooke's imaging was sent to Colorado and he saw enough evidence of a leak coupled with her symptoms, that he agreed to take her on as a patient. At this point, I dove in and started learning all I could about CSF leaks and SIH. It was validating to finally see some publications and talks by specialists about this condition that made sense and aligned with her symptoms. Brooke's headaches had progressed and began happening with any positional change- like sitting to standing, going up stairs or an elevator. They went from once a week to many times a week to daily to many times a day and eventually after being left untreated for so long, she ended up with a constant headache that nothing helped. She also began to be able to differentiate between her two headache types- SIH and migraine.
In February of 2023 her headaches ramped up and still nothing helped. In March she was sick, had back pain (saying lower left back was worse), nausea, ear pain, and had a rash that started on her chest and neck and ended up spreading to her torso, back, arms, and legs.
Her GI did an upper and lower endoscopy with biopsies in April of 2023 to see if he could find a cause of her pain, nausea, and unintentional weight loss. All was unremarkable.
At the end of May in 2023, Brooke and I flew out to Aurora, Colorado to meet with Dr. Callen for an evaluation. He wanted to be conservative with treatment and try to avoid exposing her to radiation if possible, so he decided to do a blind blood patch. This is a procedure where they take blood from your arm and then inject it into the epidural space in your spine, at various levels. The idea is to inject this blood and then lay flat after for 72hrs. This will give the blood time to move along your spine and it can travel up and down a little ways. The blood should be able to seep into any tiny holes you might have along the spine where the CSF could be leaking out of. Essentially, the blood would form a scab and then block that hole- stopping the leak. Using CT guidance, he was able to inject 20mL of blood divided between two levels (T12-L1 and L3-L4). He chose those levels, because most spontaneous leaks occur in or around that area from his experience. After her three days of laying flat, she had restrictions on bending, lifting, and twisting for another 6 weeks. She was very careful, as she didn't want to "blow the patch". She did get some relief, albeit was short lived. Her headaches improved some, but never completely went away. Some of the other symptoms that had developed improved like the tinnitus, brain fog, and clumsiness. Over time though, all of the symptoms and constant headache returned. With spontaneous leaks, this is extremely common. In fact, it is more uncommon for blood patches to work the first time with this condition. I will do another post sometime talking more about CSF leaks!
When Brooke would stand up, ever since the very first time she had a positional headache back in early 2021, she would get lightheaded and dizzy, have vision issues and often feeling like she might pass out. This is called pre-syncope. In July of 2023, she actually had a full syncope episode and passed out. She was outside on a couch on our covered porch and got up to come inside. I walked out and found her laying on the ground. The cup she had in her hand was broken and she had hit her knee and elbow. Luckily she was ok, but it was scary. As the month progressed, she had continued weight loss, continued stomach pain, nausea, abdominal pain and tenderness and said that she always felt bloated/ uncomfortable, and felt very full after eating only a few bites of food.
The end of August through the first week of September, Brooke was hospitalized for stomach pain, nausea, and malnutrition. They placed a Nasojejunal (NJ) feeding tube and kept her to make sure she didn't develop refeeding syndrome. A NJ tube goes through the nose and ends in the jejunum, part of the small intestine. Feeds are given through the tube and they bypass the stomach, ending up in the small intestines. This is helpful for patients who can't tolerate food in the stomach. Even though Brooke had lost a significant amount of weight over the last few years, her labs were very stable and she tolerated the feeds well. She was put on a special formula that is lactose-free as she couldn't tolerate lactose now. This is the one thing the first scope discovered- that she had zero lactase enzyme. Cutting out dairy definitely contributed some to her weight loss, as did cutting out anything fried because it hurt her stomach so badly. Even though she had a NJ tube, she was able to eat by mouth, although it was scary for her because everything still hurt her stomach badly. Pain management tried to help with her pain and she tried it all- bio feedback, yoga (more of the meditating aspect, not posing as she wasn't able to due to pain), accupuncture, accupressure, massage, and medicine for nerve pain. When she was finally discharged, she still had stomach pain. We came out on so many new medications as well and I truly hated that. Brooke has never been one that tolerates meds well, and tends to get a lot of side effects, but we had to try them to see if they could help.
Due to the tube placement, Brooke began to restore some weight slowly and steadily. In October 2023, she began having fevers, chills, mouth/jaw pain, swelling, headache, and nausea. PCP gave antibiotics in case was a sinus infection. She also had a follow up with her Pain doctor and she did accupuncture again, but there was no reduction in pain, and epigastric abdominal tenderness was noted. This same month she had a GI followup as well and we talked about her continuing stomach pain and nausea. He ordered an xray to check tube placement, but it was not displaced. At the end of October, Brooke was again hospitalized for severe epigastric pain and nausea. They started her on Protonix in the hospital and Omeprazole upon discharge. She never complained of acid reflux before she was put on these meds, but developed it terrible afterwards. This was super frustrating as it seemed like the meds to "help" caused something else, and she was already dealing with SO much! She was discharged with no answers and feeling no better than when she was admitted. They scheduled an upper GI scope for a few weeks later (in November 2023) since she had no improvement from being on the Omeprazole and Sucralfate. The scope showed gastritis, but nothing else was noted. Her GI doctor alluded to thinking that some of this was "in her head". It was these words and in this moment that my faith and trust in this physician took a hit, and has continued to dwindle. I cried. I explained that he does not know my child like I do, or like anyone else who knows her does, and that this is, with 100% certainty a very real issue that is causing her severe pain. Just because he has run out of tools in his toolbox, doesn't mean that there isn't something going on.
We flew back out to Colorado in December of 2023 for further testing to see if they could locate the location of Brooke's spinal CSF leak. She had a full spinal MRI done there following a CSF protocol that Dr Callen uses. Then she had a CT Myelogram done. A CT Myelogram is helpful in identifying a fast CSF leak, but not able to pick up on slow leaks as the contrast that they use dissipates quickly. Slow leaks are easier to identify on an MRI. Of note, it is very possible, and common, for people to have CSF leaks, even if nothing shows up on imaging. Dr Callen has developed a special table that he uses during the CT Myelogram procedure. Article linked here. We went back to the hotel after the Myelogram and she had to lay flat for 14hrs. I got a notification on the patient portal that the CTM didn't find a leak. I was devastated and questioned everything. Having access to the patient portal and seeing when results populate, before talking to the actual doctor, can really send me in a downward spiral! LOL! Two days after her CTM, Brooke was scheduled for the blood patch. That morning, when the doctor came to talk to us, we were anxious. Dr Callen performed the CT Myleogram, but one of the other physicians on Callen's CSF Leak team would be performing the blood patch, Dr. Petrucci. Like Dr Callen and his NP Nadya, Dr. Petrucci was just amazing. She explained that the myelogram didn't identify a leak, but that they had reviewed the MRI Brooke had done the morning of her CT Myelogram, and that they did identify fluid collection on her spine! She explained that they saw a collection of fluid down the length of her spine in the thoracic level. This is somewhat unusual, especially in someone who had never had a lumbar puncture or any needles in her spine (until the CTM, which was done after this MRI). This fluid collection is called a "dinosaur tail" pattern. The physician assisting Petrucci joked with Brooke, telling her that she's "basically a stegosaurus"! So, the plan was now to do another blind blood patch, but this time the blood would be injected into the thoracic spine in three levels. They weren't able to identify the leak site, since it wasn't shown on the CTM, but at least they knew where the fluid was collecting. The idea this time was to space out the injections along the thoracic area knowing the blood can move up and down along the spine there. Finding the leak in the thoracic area also helped make sense of the last blood patch only being minimally successful and short lived. As I am writing this (in April of 2024), I can report that she has seen a great improvement in her orthostatic headaches. She still has headaches, but says they are different than the SIH ones and they do improve at times. After her blood patch procedure she again had to lay flat for 72 hours. A couple days into this, she had a full syncope episode one night before bed. She was only getting up to use the bathroom and brush her teeth. On the second night she stood up from the toilet and was white as a sheet. She said she felt super nauseous and lightheaded. I was right there with her and put my arms around her to help her to the bed. But, her body went limp and she passed out. Thank God I was with her and was able to help get her to the ground safely. I was panicking and unable to get ahold of anyone I tried calling. So, I called the front desk and they sent an ambulance. They took her across the street to the children's hospital to get checked out. All was ok except that she was very tachycardic, especially when sitting or standing. After following up with her CSF Nurse practitioner, she suggested having Brooke looked at to see if she has Postural Orthostatic Tachycardia Syndrome (POTS) and also to see if she has a connective tissue disorder like Ehlers Danlos Syndrome (EDS). Most of the patients they see with spontaneous leaks have a connective tissue disorder. This would help things make sense for sure. Many doctors up to this point have asked the typical screening questions for EDS like: are you super flexible or bendy, are you double jointed, do you have tall, thin people in your family, can you touch your thumb to the inside of your arm, do your arms hyperflex at the elbow. The answer for these was always no, not really. But, after talking with the NP, she said not all people with connective tissue disorders are hypermobile. More on this later.
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Back at home in Texas, we had an appointment in January 2024 with a cardiologist through the children's hospital system. We didn't specifically ask for this doctor, she was just who was selected. WOW, this appointment was a huge disappointment, a massive waste of time and money (we had to pay out of pocket since it was a new year and a new deductible). Brooke was sent to her for a POTS evaluation. She had so many POTS symptoms and they seemed to be worsening. I will list her symptoms at the end of this post, but the graphic below outlines what many people deal with. This appointment was 45 minutes away and was long. They took her back for vitals when we got there and then they did an echocardiogram. After that we waited a while before seeing the doctor. When she came in, she leaned back onto the cabinet, crossed her arms, and said things like, "I see 4-5 girls like you every day", "I don't even know why we see this issue, it's not a cardiac issue. I've talked to the neurologists and asked why they can't deal with these POTS kids", "You probably have POTS, but maybe not. I've never had a patient like you with a CSF leak, so I don't know if that is what is causing your symptoms". She said that Brooke's issues could be caused by meds she's on, even though I told her she had the symptoms long before she was on the meds she was referring to. She said that since Brooke sometimes would get tingling/numbness in her fingers and toes that she was hyperventilating (like WHAT?!). The doctor mentioned a couple of medications that she gives some kids with POTS, but she didn't want to really prescribe them because she didn't know if they would interfere with her CSF issue. She suggested that I could talk to her other doctors and see what they thought. It was crazy. But, the craziest thing of all, is that this doctor did NOT do orthostatic vitals! Some doctors will do a tilt table test to diagnose, but most will just do a series of vitals (heart rate and blood pressure) laying, sitting, and then standing. She did not do that. I was shocked and angry when we left.
Later in January, we had our appointment with Rheumatology. Brooke was referred there due to a positive ANA and some ANA titers/patterns that showed up on some lab work. I knew going in to this appointment, that a positive ANA can mean something, but it can also mean nothing. I had done a lot of research on things and came armed with Brooke's history all printed out in a bulleted list (a condensed version of this post, really), her symptom list, some photographs of reactions, as well as survey results from a very informal survey I had conducted in a group of people with CSF leaks. I was particularly interested in finding out how many with leaks also had other comorbidities and what they were. It was very eye opening! Out of the 75 respondents (I know, very small and very informal study, but it was interesting), 51% had a connective tissue disorder, 50% had POTS, 41% had migraines, 39% had autoimmune disease, 31% had MCAS, 12% had a vascular compression, 12% had gastroparesis. I shared this with her and she also found it interesting! After her exam and the appointment, she ordered a TON of other labwork. She didn't think that Brooke's face flushing and rashes were Lupus, but more likely a mast cell reaction. Although Brooke did have positive ANA and titers (that showed up again the same in the repeat labs), she ultimately doesn't think Brooke has Lupus. She definitely said there is an autoimmune issue and autonomic dysfunction and encouraged me to get Brooke to a Dysautonomia doctor, to have someone look further into possible connective tissue disorder, and to see an allergist or immunologist about Mast Cell Activation Syndrome (MCAS). She also recommended we see another GI as well.
Brooke's symptoms/reactions:
Constant epigastric pain- stabbing with movement, activity
Constant severe nausea
dizziness upon standing (has improved slightly since patch)
feeling like passing out when standing (has passed out twice), but also has improved some since patch
intermittent red, rashy cheeks (she's getting these more and more frequently- every day now)
feeling cold, but sweating (when it's not cold)
feeling hot (when it's not)
tremors in hands, legs, feet- sometimes twitching in face
she's had random lip swelling
feet/ankle swelling upon standing
mouth and lip sores
blood pooling in legs when standing
Reynauds looking in hands, feet, ankles (purplish looking but yellow/white on tips and when you push on it)
Skin mottling after standing/ worse after showering
random fevers
HAIR LOSS! she's lost so much hair
bloody noses
Skin itchiness
Fatigue- always tired, takes 2-3hr nap daily
chest pains
Itchy legs/feet when hot or standing
air hunger (like hard to get a good breath sometimes) hard to get good breath in and out
vision issues (hard to focus eyes), dry eyes
Pupils are almost always dilated
joint pain- knees, hips, hands, feet (shoulders sore too)
Joint instability- can pop hips in and out, can move kneecaps side to side, can pretzel legs
numbness in extremities (she explains it like if she's laying on one side for a period it goes numb- if she crosses her legs, they go numb
sometimes tingling in face, cheeks, hands, and feet
Neck feels heavy/ painful where head meets body, sore neck, coat-hanger pain, feels like head too heavy for neck to hold up
Brain fog/ stuttering/ lose track of words
Clumsiness
Tinnitus (worse when head hurts)
Migraines (gets Botox every 90 days)
Constipation
Photophobia, sound, and smell sensitivity
In February of 2024 I finally decided to contact a doctor I had seen recommended in some dysautonomia groups in Texas. Contacting him is the absolute best decision I have ever made and I can't imagine where we would be without him. Talk about validation. This amazing physician listened. He truly understood it all. He made sense of everything. When we were talking to him and telling her history, so many time he said, "let me guess..." and he guessed right. He knew what we had been dealing with, he knew what was going on, and he had ideas to help. Dr Burkholder is board certified in Pediatric and Adult cardiology, he is a board certified General Pediatrician, and he is also a Dysautonomia and Complex Case specialist. We were lucky enough to know someone who had met with him and told him about Brooke. Although he wasn't taking new patients, he said he would take on Brooke's case and we are forever grateful. Brooke has now been diagnosed with Dysautonomia- EDS, and POTS. She also saw our allergy doctor and he ran a lot of other bloodwork and diagnosed her with MCAS, which Dr. B also thought she likely had based on her symptoms and reactions. He ordered a central line to be placed so that Brooke could receive IV saline to help with the POTS by increasing her blood volume, fluid intake, and salt. She also is receiving some daily IV meds to help with the MCAS and nausea. Initially she was also having vitamins added to her Saline bags, but she ended up being allergic to them and each time her reaction increased in severity- it was scary!! We stopped those, so now it's just the Normal Saline and they do seem to help perk her up. We were told that it took a long time to get this sick, and that it will take a long time to get better, especially as we are still figuring things out. Even with these new diagnoses, Brooke's severe epigastric pain and nausea remain. We are looking into having consults with specialists for vascular compressions out of state. Her symptoms align so much with them, but up to this point, doctors we have brought this up with have been very dismissive. I could do an entire post about doctors being dismissive and how absolutely terrible it can be.
Her whole journey these past few years has been a puzzle. Things we thought were one thing that ended up not being what we thought. Other things we didn't think were possible, she ended up being diagnosed with. I am a person that dives in and does research and joins groups and learns all that I can. I can go back to posts I made in CSF groups more than two years ago when people suggested she had all of these things she's now diagnosed with, and when they suggested them back then, I thought there was no way. It's also very possible that the "side effects" we thought were from medications all along, were actually not at all, but could have just been her Dysautonomia. It's also very much a chicken and egg thing. It is hard to know what came first. It's very possible that COVID or Mono caused all of this dysautonomia to flare up and things just snowballed. Brooke's poor body is just so angry. It is like it is fighting itself. In the meantime, I am also fighting. I am fighting for her and I will not give up. I will not stop until we find answers and she gets the help that she needs. No one should have to endure what she has endured and continues to endure. Thankfully she hasn't given up and has found comfort and friendship with some other girls who have been down this terrible path. They have helped her so much and it has been so good for her. She has now also been able to help others who have CSF leaks and has shared her experience with the blood patch procedures and CT Myleograms. Sharing her journey and ups and downs on TikTok has also been good therapy for her.
So, that's the long history. This has been our life for over three years now. At the beginning when we thought it was bad, we could have never dreamed that it would get so much worse. We remain hopeful and prayerful that better things are coming.
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