April 27, 2014

Dear Family and Friends,

I wanted to update you again on our family. I have had so many wonderful people reaching out to us recently to check in on Ava, Oskar and Lucy. Thank you. We appreciate it very, very much.

I have been slow to respond to a lot of you. I apologize. It’s been such an overwhelming couple of months again.

I realize that everyone has their own story of what’s going on in their lives…
So, I appreciate the time you take out of your busy lives to read my updates.

I love hearing from all of you. I appreciate every single email response I receive after I send out our updates. You all help me to continue on this journey. Thank you.

We are coming up on the date of May 3rd, this is the date last year that Ava hit her head. It started us on the path that most of you know about already. However, I am going to recap for a second. I’m including some new friends on this round…My wonderful Utah family and friends.

[layerslider id=”1″]

2013:
May 3rd: Ava hit her head while playing with a babysitter.
May 5th, May 8th, and May 10th: Ava was in the ER in Chicago
May 10th: MRI scan was stable with her large arachnoid cyst.
May 24th: Ava’s Neurosurgeon thought about rescanning her again but did not order it.
He sent us to a neurologist.
May 29th: Met with Neurologist #1. Put her on Gabapentin (Supposed post-concussion headache).
June 3rd: Ava at the Mayo Clinic on an IV with pain medication. Met Neurologist #2.
June 4th: Ava’s birthday was spent at The Mayo Clinic. She did not even want birthday cake or presents. Started a new drug, Amitriptyline. (Still supposed post-concussion headache).
June 6th: The Mayo Clinic sent us home. They told us to max her out on Ibuprofen and continue the new medicine.
June 11th: Ava was back at the ER in Chicago. They sent us home on Tylenol. The Neurology Department was on record as saying, “Neurologist #1 and Neurosurgeon do not feel it necessary to do any more testing.”
June 13th: We took Ava to the ER at The Children’s Hospital of Wisconsin. Justin and I refused to leave. Ava was in so much pain. She was admitted based on her pain level and because she started to lose her sight, papilledema. She started to complain about her spine hurting. I slept with her in her hospital bed as they tried seven different pain medicines, which ended with morphine at 4:30a the next morning. Her screams from that night still haunt me to this day.
June 14th: MRI showed a subdural hydroma. Her lumbar puncture (spinal tap) showed pressure at 55 when the normal range is 20.
June 15th: Ava had her first cranial operation. There were new bilateral subdural fluid collections. The lateral subdural hydroma was causing severe papilledema, which could have caused blindness. Ava’s sixth cranial nerve was being squeezed by the increased intracranial pressure. They drained the subdural hydroma via burr holes and left an external drain for the CSF.
June 26th: Ava had her second cranial operation. They put the external drain back in her head.
July 3rd: Ava had her third operation. Cyst Fenestration.
July 12: Ava had her fourth operation (Ava had a subdural, low pressure shunt placed).She also had a skin biopsy and muscle biopsy.

So, there is the Ava story most of you all know already…..

Before Ava had hit her head, we were actually trying to understand her autonomic neuropathy. Her autonomic issues became much more noticeable in November, 2012.

We were seen at three different hospitals in the Midwest. We were told that Ava was “fascinating” to doctors.

FYI – “You never want to be interesting to doctors, let alone fascinating.”
We were told by several doctors.

Even before we were trying to understand Ava’s autonomic neuropathy, we were trying to figure out why Oskar always had low-grade fevers and fell asleep so quickly after he exerted energy or ate a meal. He had a full workup done at two hospitals in the Midwest. They couldn’t figure it out. When we went to The Mayo Clinic for Ava’s autonomic issues, Oskar was seen there as well. He had testing done then that showed his epinephrine levels off the charts. The Mayo Clinic even reached out to the NIH, which we never did hear what they thought about Oskar’s results.

Oskar and Ava were seen at The Mayo Clinic several times for their autonomic neuropathy. However, The Mayo Clinic was not interested in doing genetic testing on our children. Therefore, I reached out to Dr. Gunter Scherer at The Children’s Hospital of Wisconsin. We met with him in the spring of 2013. He was planning on having us meet with Dr. Gisele Chelminsky and Dr. Thomas Chelminsky. They are a husband/wife team that specializes in autonomic neuropathy. We did not have the opportunity to meet with them last year….due to Ava’s surgeries.

When we were at The Children’s Hospital of Wisconsin for Ava last summer, we were blessed with meeting Dr. Brett Bordini.

Assistant Professor
Department of Pediatrics
Section of Hospital Medicine
Nelson Service for Rare and Undiagnosed Diseases

Assistant Professor of Global Health
Global Health Program
Director, Medical Spanish Curriculum
Medical College of Wisconsin

He has become one of our biggest advocates for finding out answers with us. He read through all of the children’s medical records during the summer. He monitored Ava’s progress closely. He has continued to be there for our family. He organized Ava’s autonomic testing as well as Oskar and Lucy’s autonomic testing. He organized the day spent with the geneticist, our genetic counselor and the two autonomic specialist in early March of this year.
As I told some of you in an update during Lucy’s hospital stay in March, we were discussing the whole genome sequencing for our family with The Children’s Hospital of Wisconsin.

We just were informed this week that the following will be submitted to our insurance company:

Trio – Justin, Gina & Ava (whole genome sequencing)
Oskar – (whole genome sequencing)
Lucy – (whole genome sequencing)

We feel very, very blessed to have this opportunity through the Nelson Service for Rare and Undiagnosed Diseases. We feel very, very blessed to have met Dr. Bordini, our geneticist, our genetic counselor, and our two autonomic specialists.

When Ava’s hands starting getting red, I never would have believed that all three children had the same genetic problem. We first realized that they were all getting red last March, 2013. I remember the night. I remember calling Justin in a state of panic. I remember going through all of the baby pictures. I remember noticing how red Ava was as a toddler. I remember calling my parents, hysterically. I remember it all….like it was yesterday.

All three children are showing signs of fatigue after exertion. All three children cannot stand the heat or the cold weather. All three children continue to get red and mottled. All three children need a lot of rest/sleep. All three children “crash” at some point during the day. All three children do not like to eat. As Ava explains it, “Sometimes my tummy wants to eat but I do not want to eat. Sometimes I want to eat but my tummy does not want to eat.”

I also feel fortunate that I have finally found a pediatrician here in Utah. He is becoming another huge supporter of our family. Dr. Carter told me that he will order all of our medical files from all FIVE hospitals that have handled our children in the last two years. I asked him the following questions.

“Who will go through all of the files?” He replied, “I will.”

“Will you be paid for your time organizing and reading all of the boxes of files?” He replied, “No. Gina, someone has to help you and your children here in Utah.”

I started to cry. I went through five different pediatricians back in Chicago. They never knew how to help us. Dr. Carter has already seen the kids multiple times since we met him less than a month ago. He told me to bring them in at any given time. He has also arranged for us to meet with several specialists here in Utah.

Ava was having a lot of different pains last week. When I called the ER at Primary Children’s here in Utah, they told me that they didn’t know how they would help her. They told me to wait until the morning. By then, her pain was gone. It happened again the next night. We seem to be able to calm her with Ibuprofen and rest. I called the neurologist assigned to Ava the next morning. He called me later in the day. We talked for about an hour. He, too, said that if a doctor takes “us on” here in Utah, they are doing it because they want to help us. He sent me his email. I sent him all of the contacts at The Children’s Hospital of Wisconsin. I’m hoping they will connect soon.

Now to focus on Oskar:

We took Oskar to a Neuro Muscular doctor this week. It was a difficult discussion.  It was hard to explain Oskar’s medical path without explaining Ava’s journey as well.  She made the comment, “You need to stop lumping the children together and focus on them individually.”  She made me cry. I have worked on all three of my children’s health individually as much as I can physically and emotionally handle.
She wants to do a sleep study for narcolepsy.  She mentioned dopamine beta-hydroylase deficiency.  She mentioned diabetes.  She was going to speak with another Neuro Muscular doctor.  I told her that I had spoken with Ava’s neurologist, Dr. Francis Filloux the night before. I am hoping he gets involved in decisions based on Oskar as well.

On top of that for Oskar, he is having surgery this Friday, May 2nd. Oskar has chronic sinusitis, a deviated septum, allergies and his adenoids grew back. The poor kid cannot breathe through his nose. This has been going on for a few years. We actually were supposed to have surgery for his issues before Ava had her surgeries. So, they are going to start with going in and taking the adenoids out again as well as poking some holes somewhere to help get air moving through his nasal passage. If this doesn’t work, then they will go back in and deal with his chronic sinusitis and deviated septum. There is some risk in working on the deviated septum that he could have facial deformation because he is so young. Therefore, it would be the last thing the ENT would fix.

Ava and Lucy are meeting with the ENT tomorrow morning. Ava was supposed to have her adenoids out before her other surgeries. We want the ENT to see Lucy for her raspy little voice. We need to make sure that she doesn’t have nodes on her vocal cords.

Your love, support and prayers continue to help me on this journey with Ava, Oskar and Lucy.

Love to you all,
Gina