Hi Dr. Holick,
I wanted to share our story with you for support. It was nice seeing you at the TCAPP movie premiere of Complicated. Because of the diagnosis treatment and support Emma has been receiving since we first saw you many years ago she has continued to remain stable, despite living with Ehlers-Danlos and other comorbid conditions.
This is our story. When Emma was 11, she sprained her ankle and it never got better. The condition progressed and she developed complex regional pain syndrome. She has since become disabled from this condition and uses a wheelchair and has been diagnosed with many other comorbid conditions including EDS, Cyclic vomiting. MCAD , and POTS.
So at age 11 in 2014 Emma sprained her ankle. Her ankle never got better and was not consistent with a minor sprained ankle injury. The pain increased, it became sensitive to touch, sound and vibration. Her ankle became stiff. She was seen at Tufts Floating Hospital in Boston for a second opinion as she was treated for the ankle sprain initially at Dartmouth Hitchcock in Lebanon orthopedics first.
We got a second opinion as it just never got better. At that point, Dartmouth had suggested her going to genetics and referred her to genetics at Dartmouth. They had treated her since she was 2 with various sprains breaks and injuries throughout her lifetime.
After the ankle sprain and angel 11, they finally said that there could be a genetic cause to all of her injuries. They referred her to genetics for further testing. It was February and 2014 and we were waiting until around May to have her appointment at genetics at Dartmouth Hitchcock Lebanon. I had suspected EDS for a long time at that point but no doctor had ever mentioned it.
It was then her ankle didn’t get better continued to get worse, and we got a second opinion for the ankle injury while awaiting our genetics appointment. We went to Tufts Floating and they did an MRI. Everything looked fine and her condition worsened and she was diagnosed with complex regional pain syndrome. At this time, the orthopedist at Tufts, he also suggested there’s an underlying genetic cause to all of her injuries. They had also treated her for scoliosis as well. They also suggested a referral to genetics. We told them we already had the appointment in New Hampshire and they said it was appropriate to wait for that and go to her scheduled genetics appointment in New Hampshire.
Fast-forward to May, we went to the appointment and she was diagnosed with Ehlers-Danlos hypermobility type. She was diagnosed by Maryanne Dinloulas a geneticist at Dartmouth Hitchcock Lebanon.
We finally had an answer to what had been causing continuous, sprains strains subluxations and multiple bone breaks to Emma her whole life. It also explained a lot concerning her G.I. system and other symptoms as well. Unfortunately, she was still suffering from intense pain from the CRPS, and genetics could not help her with that. However, at that time they did refer us to some specialists for the comorbid conditions that can affect patients with EDS. It was at that time. She then saw a gastroenterologist at Tufts floating hospital for children. She was diagnosed with cyclic vomiting. She also had been doing physical therapy throughout her lifetime for injuries, but now was referred to more physical therapy for the EDS specifically, as well as the CRPS. At some point during all of this, we had been referred to Boston Children’s Hospital for the children’s pain clinic to treat the CRPS.
So now we had a lot of diagnosis which were overwhelming, but really not a lot of support or treatment. Boston Children’s Hospital when we told them she was diagnosed with EDS basically brushed it off and said it’s just a name for something she’s always had and won’t affect her.
At this point, she was having a lot of trouble in school, many missed days, and two different schools she had attended the school. Nurses were unable to be supportive of her diagnosis of EDS. She had attended one school previously, her local public school and been bullied by other students for many reasons but one of them was because of her constant injuries she would come to school and different braces, crutches, different injuries, etc. and she was accused of faking her injuries. They even had to put an aide in her classroom to protect her from the other students who were so mean to her. His aide backfired and ended up being dismissive of her injuries as well and not understanding her medical conditions. She spent days at the nurses office with stomach pain, injuries, etc., and school became a real problem for her. She was unable to keep up with her peers. She has learning disabilities as well, which we think our associated with EDS as many other patients with this condition have learning disabilities. At that time we switched schools and sent her to a charter school.
Her principal at her previous school was so dismissive that she actually required Emma to come to her office anytime she had a new injury. She would then take the group of girls who were mean to Emma aside and explain to them what this injury was. They wanted her to disclose everything at all times and couldn’t just treat her with kindness and empathy when she came to school with a brace on her wrist or a cast on her leg or her arm or her foot. She had suffered from so many injuries over the years. She was constantly in some sort of brace or pain. However, this was dismissed by her principal teacher, vice, principal, school, nurse, and aid as well as the other students.
So we sent her to a new school. It was at the new school in fifth grade when Emma sprained her ankle in February 2014, however, for years at her elementary school previously she had been bullied and all of her injuries over the years were dismissed, and she was treated as if she was making them up.
We thought the new school would be better. Academically it was as they helped her with her learning disabilities. However, then she sprained her ankle and developed Crps. It was that spring of 2014 when we finally saw the geneticist and she was diagnosed with Ehlers-Danlos. Everything started making sense to us as parents and as a mom. I always knew something was wrong and we finally had names for everything. I was hopeful we would get some answers and some help.
However, it was quite the opposite. Her school nurse was horrible. Emma would be continuously there for pain in her knees wrists, other part of her body, constant stomach aches, and illnesses due to EDS. However, her school nurse told Emma without my knowledge that it was not a big deal that her nephew suffered from it and was a marathon runner and never never affected his life and it would not affect hers. At this point, I started arguing with the school nurse saying that was not appropriate. Actually it is serious showed her all the information from Dartmouth Medical Center about the genetics and comorbidities of EDS. The school nurse refused to believe me and refused to treat Emma appropriately. She was not appropriate in her treatment of her CRPS or EDS or cyclic vomiting. She was dismissive, rude, unkind. So was the principal, and the school secretary. They all treated Emma again, just like the first school had like nothing was wrong and she was making it up. As her CRPS began to worsen her school experience became horrible and so stressful every day.
Boston Children’s Hospital sent letters to the school explaining her medical conditions and how they could support her in school for these. Truthfully Boston Children’s Hospital has not been supportive of patients with CRPS or Emma and we refused to put Emma into the pediatric pain and rehab rehabilitation center, however even Even they couldn’t believe the treatment of the school nurse to Emma and how dismissive she was. That should tell you how horrible her treatment of Emma was if even Boston Children’s Hospital was trying to help. Even Dartmouth Hitchcock genetics the genetic counselor there would contact the school. She would send information about pain in EDS, she tried to help so much, but the nurse was unwilling to believe any of it. Dartmouth Hitchcock genetics actually suggested we get an advocate because Emma was being treated so unfairly there.
It became a daily battle for me with a school nurse, and the principal, and everyone involved in her IEP team as well. Emma was not given the accommodation she needed. She was not believed and she was treated like she was making it up. No one believed her pain from EDS or her symptoms. She was constantly sick and missing school and even with doctors notes was punished for her absences. Looking back I can’t believe I let her suffer through that experience. It was during this time as a parent that I began researching and I found an organization that supported EDS and the man in charge was Eugene Wilson.
I was looking for support for this nurse and how she treated my daughter as they had resources for helping your child with EDS in school. I had gone online and found their website and contacted them directly. Eugene wanted to push for me to have this nurse fired as she was so inappropriate. Here are some things she said to Emma and myself “I was a pediatric oncology nurse and I know the sign of pain and Emma does not show any of the worldwide signs of pain” we know with EDS patients are in chronic pain continuously so they may not look like they’re in pain but they are. Some other things she said “how does Boston Children’s Hospital even though she needs pain medication why do they even prescribe it” she wouldn’t even believe doctors doctors notes, doctors letters she would not give administration of medicine as ordered by multiple doctors. I could go on and on and so much happened there. It was unbelievable how they treated my daughter so Eugene suggested I fight to have this nurse removed. I thought that was too much and it was also stressful that I didn’t want to do that but I needed help for Emma in school. He gave me some suggestions and his organization gave us some support and how to address the accommodations that Emma would need in school as a student with EDS. I’ve sent letters to the school board, but it was a small charter school and everyone just supported the nurse. The department of education tried everything I could had meetings with the IEP team, etc. but nothing helped.
Here’s where Dr. Holick comes in. Eugene Wilson said that many patients with EDS have low vitamin D. He asked if we had had that checked by anyone. I said definitely not. He suggested I go to a doctor named Dr Michael Holick at Boston Medical Center. He said tell him Eugene sent you and get her vitamin D checked. So we did. We travel to Boston from New Hampshire and Dr. Holick did blood test no one else had before. At this point, her vitamin D level was a four he put her on 50,000 IU of vitamin D daily. He had us follow up multiple times to repeat bloodwork until her levels were in the normal range as such a low vitamin D level is so dangerous and could’ve cost a lifetime health problems for her and probably already had at that point as no one had ever tested it. Dr. Holick also did a bone scan and she was in the beginning stages of osteopenia so we started more treatments for her CRPS to get her pain under control so she could start PT again. She has since followed up with bone scans and Dr. Holick is the one who had suggested them and had done them at Boston Medical Center. She also still follows up on her vitamin D level and is now taking a daily amount of 5000 thankfully to Dr. Holick for discovering all of this or she could’ve ended up with many illnesses related to vitamin D deficiency as well as losing bone mass.
At her first evaluation with Dr. Holick, he discovered many things such as that she had blue sclera, he diagnosed her with postural orthostatic tachycardia syndrome, as well as mass cell activation, which no one had before. Emma had been suffering from pot for years and no one else diagnosed it before. We greatly affected the quality of life and she would become unable to function due to it. He started her on medication’s to help her pots. He was the only Doctor Who had been empathetic and compassionate and understanding of these conditions in their comorbidities. He did bloodwork on her no doctor had ever done before. He was so helpful in getting her diagnosed and starting treatment treatments that improved her quality of life.
It was during all of this that Emma’s CRPS was worsening and she required more treatments out of state and needed to get ketamine infusions for her CRPS and went to various children’s hospitals. She went to DC Children’s, Pittsburgh Children’s and eventually ended up going to different providers who treat CRPS with ketamine infusions for the pain. All of this was so important as we had found out in the bone scan that she had the beginnings of osteopenia at 12 years old. By treating her pain for the CRPS, she was able to be weight-bearing more and stop the progression of bone loss in her leg.
So all of this is happening and Emma is still trying to attend fifth, sixth and seventh grade. We have now added a Dr. Holick as an amazing provider to her team. She was treating the vitamin D. The level went up to a normal level and she was starting to get support for her other diagnosis and things to Dr. Holick’s help who was able to get to the specialist she needed to treat her POTS. This was life-changing as it affected every day and her ability to function. She was also getting more support for her EDS. Her vitamin D level is now stabilized. At this time her school nurse became worse and worse in her treatment of Emma and filed a complaint with New Hampshire DCF against me for Munchhausen by proxy.
This was in response for us requesting more accommodations at an IEP meeting and requesting a tutor for Emma as she would be hospitalized at Pittsburgh Children’s Hospital multiple times over the course of the fall of seventh grade for treatment of her CRPS to get the pain in her leg down. At this point she couldn’t walk and the pain was so severe she couldn’t weight bear at all and as Dr. Holick’s test show, she was losing bone mass.
I got a call on a Friday morning about a week after the IEP meeting where we had just requested a tutor that’s all. We knew our child would be hospitalized. We requested a tutor as any good parent would so she could keep up with her studies while she was in the hospital and not fall behind in seventh grade. The workload was becoming a lot at that point and dealing with her chronic medical conditions and balancing school all along with learning disabilities was becoming quite challenging. She really needed a tutor. Instead of adding a tutor to her accommodations, they turned us into DCYF the principal of the school as well as the nurse. They also actually had given us a letter which stated that if Emma is going to remain sick and continue to have these medical conditions that she should stop attending their school this was completely illegal and we filed a complaint with the office of civil rights. They did open a complaint against the charter school. They said they had retaliated against us for asking for accommodations. We did follow through with the office of civil rights complaint as well, but first had to deal with this Munchhausen by proxy investigation.
The principal of the school was just as horrible as the nurse. In fact, she had at that point prevented us from even meeting with the school nurse she forbid it. At one point she had the nurse contacting all of Emma’s doctors without our knowledge and refused to provide us any summaries of what was said. We had to rescind authorization for her to talk to Emma’s doctors as she was trying to convince them that I was making Emma sick I had to go to school every day and drive 30 minutes each way just to give her different medications that were prescribed by Boston Children’s Hospital. They put her on Lyrica, gabapentin, nortriptyline, amitriptyline, and other medications and they would be titrated different amounts weekly and the school. Nurse refused to administer this medication. She also refused to administer her medication for POTS, which was midodrine when we finally did get a pot specialist so all of this was continuing to go on and then I got the phone call.
On a Friday morning, fall of 2015, DCYF contacted me and said there’d been a complaint when they described what it was I knew exactly who it was. They asked to come see us and I said please come to my house. I know who made that complaint and it’s not true. They said I was accused of taking her to multiple doctors and that the child was fine but the parent insisted on taking her all over to different doctors insisting she was in pain, but she was not.They said I was making it up and that Emma was fine.
The DCF worker came to my house. Emma had been home that day and was trying to go to school, but she had a lidocaine patch on her foot for pain was very nauseous and was trying to be able to leave the house and attend school that day. She wasn’t even able to attend school because she was instead questioned by the DCYF worker. A 12-year-old child in pain and suffering nauseous couldn’t eat couldn’t walk and instead of support was questioned by this caseworker as to if her conditions were even real, and if I was abusing her. It was horrible. It was in our own home and it was the worst experience I’ve ever been through as a parent.
Then met with me separately, and I was able to provide her many different files of different doctors, including files of Dr. Holick, files from DC Children’s Hospital, as well as many other doctors. Emma had been treated at that time at DC Children’s Hospital with low-dose outpatient ketamine to try and control the pain for CRPS. It kept worsening and didn’t get better and then we were referred to Pittsburgh Children’s Hospital for inpatient ketamine infusions. It was at that point when we requested the tutor before she was hospitalized and this complaint was filed.
So at that time which I didn’t even realize then I was actually being accused of a full Munchhausen by proxy investigation. They literally thought I made my child sick. I was nothing but a supportive parent and in fact I had gone out of my way researching and getting her to the proper specialist to get the care she needs as her condition was declining daily. The caseworker took all the files made copies of everything, and it was a very stressful process for me as a parent. Emma never made it to school that day.
She was terrified to return to school however, I said you have done nothing wrong. You hold your head up high and you use your wheelchair in school and attend classes as much as you can you still leave early when you need to call me for your medication whatever you need that you’ve done nothing wrong and these conditions are real and it’s not your fault that you’re being treated this way. Emma was treated hostile by the school from that moment on by the principal, the secretary, the school nurse and anyone involved in her care. It was a horrible experience and I can’t believe I subjected her to it. We couldn’t afford a private school and she already had to leave one school for bullying due to EDS already. So I didn’t feel like I had any choice.
We kept checking in with DCYF and the case was just left open. So I contacted all of Emma’s doctors at that time let them know what was going on and asked if they could send letters and phone calls and support that Emma’s conditions were real and that in fact was not suffering from Munchhausen by proxy. It was at this time that Dr. Holick was contacted. We gave him all the information and the school had access to all the files and medical treatments that have been provided by Dr. Holick.
It was because of his support that Emma was not taken away from me. I look back on this time now and I can’t even fathom what would’ve happened. She would’ve been put in foster care and not gotten the medical treatment she needed and her whole life would be a different story. My case remained active and open for over a year and I had to fight hard to get it closed. I do have a copy of the complaint with all the names redacted that needed to be, but what I found out when I requested all of this paperwork after the case was closed that it was a full Munchhausen by proxy investigation.
It was so dangerous that my child could’ve been taken away and the only reason she wasn’t was because of the support of Dr. Holick. All of her conditions were real and we’ve now learned so much about all of them. However, one of the things that Dr. Holick was studying and put in some of his papers and research was the fact that EDS patients had more bone breaks, Emma had many breaks at an early age. She broke her wrist her leg, her toe, multiple breaks and injuries at very young ages.
Dr. Holick research was to show the fragility of bones and Ehlers-Danlos. No one else believed this and of course we were accused of faking these injuries for Emma. Although we have found more support for Emma as she’s gotten older and changed PCP’s and she has care for her CRPS through a doctor out of state, the only doctor we ever had any support from in New England before was Dr. Holick. We are a small family with not a lot of resources and all we could do to travel to his office for these appointments, but they were amazing because for the first time somebody really understood. Emma felt supported and received the care she needed, she got the testing she needed. She need bloodwork bone scans and then followed up with treatments and medications for pots and her vitamin D deficiency.
Dr. Holick saved us from losing our child. Without his help Emma very well would be in foster care today instead I filed a complaint against the nurse and although nothing happened it does remain in her file forever. She was very uneducated about EDS and Emma ended up suffering greatly due to this. We are so thankful for his support without it. I don’t know where it would be where we would be today.
Dr. Holick, as you know, Emma has many conditions, and she is still resting today. I work as her personal service care provider through a Medicaid waiver program which has given her a better quality of life. When she is awake today and has had her medication’s etc. I will have her pick photos that she wants to send to you. Of course we have plenty if there’s anything you need from us in particular or any type of photos you’re looking for please let us know and we are available for any help and support that we can and I’m sorry you’ve been treated the way you have by the medical community. Due to Emma’s early diagnosis, although it was rough at first we’ve established a better team now and, she sees Dr Farhad at Mass General Neurology and receives weekly intravenous globulin or IVIG, she still takes medications for POTS, vitamin D, daily, and many other medications for her conditions. It is only because of all of this that she remains stable because of her early diagnosis and treatment. I think of Kira and Karen every day as we knew them both and will be thinking of you and your journey and your treatment as well. I’m thinking of you all on the day of the marathon. I wish you the best.
Beth Young (Emma’s Mom)
