Monday, July 20, 2009

Specialist Trip to Washington D.C.

We met with Dr. Stensel on Saturday morning for our evaluation. He doesn't think Makenna has CMTC...but gave us other ideas on what it could be. He said that children with CMTC met developmental milestones, were not cognitively behind, basically CMTC is on a spectrum that is of overgrowth syndromes. M-CMTC is first, then CMTC, then KTW, Proteus and so on of overgrowth syndromes. Children with classic CMTC have very prominient facial markings, especially above the eye and lips. CMTC impacts more of vascular issues and has not been linked to gross motor, cognitive or developmental delays. In regards to kidneys, cysts, and heart these complications are not linked with CMTC, but manifest in other syndromes such as:Congenital Lipomalous Overgrowth Vascular Malformation, Epidermal Nevi (CLOVE syndrome)Cowden Disease----this one speaks of ovary cysts you asked about. Here is the link to an article I found today. Linear sebaceous Nevus SyndromJadaddohn/Schimmel- Penning-Eeserstenin Phakomatosis pigmeule-vascularisHe suggested to look into getting a skin biopsy for Makenna and parts of her skin that have the epidermal nevi. To also look for chromosomal abnormalities in affected vs unaffected areas of skin. and complete an experiemental SNP array, and look for the FGFR3 and or PI3K of affected skin with epidermal nevi.

Wednesday, July 8, 2009

Makenna "The Happy One" Where we started from and where we are going

On March 22, 2008, in Wichita, KS, Makenna Caroline Clark began her journey in life. She was precious and beautiful, and holding her for the first time was the best experience I've ever had. She spent ten long days in the NICU teaching us that faith is what the most important attribute a family can have. Makennas' doctors could not tell us what exactly was wrong with her; but they knew that there where certain markings on her body that were unusal and she was rather larger for a premature baby and her head size was off the charts. This would worry any new parent and would be something you would research for days and months after being released from the hospital. Makenna went home for the first time on April 1, 2008 to her home in Manhattan, KS. It was the monhts that followed that began to worry us. She was not meeting developmental milestones and her head size started to increase dramatically.
In October of 2008, Makenna suffered from what I assumed to be a normal nosebleed. However on the way to the emergency room in our new home in Western, KS we realized the blood was coming out of her mouth. With limited resources in our town, the emergency room doctor thought it was nothing because she didn't have a fever and had not ingested anything. I was still worried as a first time mother and someone familiar in the health care field. I took her the next morning to her primary care physician. She suggested a test that could not be performed in our area. We were taken by one of many ambulance rides to come to Wichita, KS. Back to the place we had begun our journey. None of us knew that her life (and ours) was about to be changed forever.
Makenna was diagnosed on October 15th with a condition called hydrocephalus (abnormal accumulation of cerebrospinal fluid (CSF) in the ventricles, or cavities, of the brain.) I had never heard of this but knew it couldn't be a good sign of too much of something in your body. Later that evening after phone calls to family members and meetings with neurology and neurosurgeons, Makenna was admitted to Wesley Medical Hospital. She was to undergo surgery on October 17 in the afternoon. After hearing about the process of the surgery and learning the possible life threatening complications, as a parent you must weigh all options. As per the doctor these types of surgeries are done frequently and I was reassured that no extreme harm would be done. I was told to worry more about having a high fever after the surgery. Which she did. It was 113.
Makenna came out of surgery at 5:45 in the evening I believe. I got to see her in recovery where I sat by her bedside in the PICU until she was moved to a new room the next day. We went home a day later. Prior to Makennas surgery she was a bright eyed, "happy one" as her name means, she cooed, smiled and laughed. After the surgery and placement of her VP shunt, her mannerisms started to change. Her deelopment slowed down, and the vocalizations of "Mama" started to fade. Something wasn't right. I really began to worry.
In November things started to get worse. Makenna began having "spasms". I took her again to our primary care doctor in our small town. She once again recommended another ambulance ride to Wichita. We were admitted around 3 pm on November 11th. She had another CT and this time and EEG. We learned that now Makenna was epileptic. She was placed on a drug called phenobarbital.
I thought the worst had to be over and that Makenna would begin smiling and interacting with us like she used to. However in early December I realized as did her Intervention Specialist that Makenna was not getting better, she was getting worse. Her head size started to increase again. It was now 55.5 cm.. I took her to the doctor again, this time after the CT and shuntogram, it revealed that her shunt was malfunctioning. I knew this was a possibility, however I didn't know it would be so soon after the first surgery. On December 22, 2008 one day before she was to fly to Indiana to see her grandparents for Christmas Makenna underwent her 2nd surgery in 3 months. I knew the routine at this point, however I wanted more answers. It isn't normal for a child to loose developmental milestones. Something else had to be going on.
We were released on Christmas day 2008 and took an early morning flight so Makenna could enjoy her first Christmas. I prayed silently that this would be only the first of many more to come in her sweet life.
In January of 2009 Makenna was diagnosed with Pneumonia and extreme respitory distress. This was our 3rd ambulance ride(3 hours one way) to Wichita. She was admitted after three hours in the ER. She was monitored again, a CT was performed and a Shuntogram. Those test all came back normal. I knew in my heart there was more to this story. I asked her neurologist to complete a MRI study on her. He responded, " You do know those test cost a lot of money." I was so offended by this statement I began my phone calls to friends who worked in the health care field for referrals and new doctors. She was released 2 days later. By then I had scheduled an appointment with Childrens Mercy in Kansas City, MO. Her wonderful Wichita family loaded up the car and made the drive to Kansas City.
Just our luck, records were crossed and we ended up in the ER for 7 hours. In the mean time, she began have seizures and was sent to see the Neurology team. They are our angels today. It was this hospital team that finally took the time to examine Makenna.
On our 3rd day at CMH, and after seeing 15 doctors, we finally had what resembled a diagnosis. It was official in February of 2009 after more examinations that all of the things I had asked her previous neurologist about all lead to a syndrome called "M-CMTC" for short. The genetic terminology is MACROCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA. It is a rare condition that impact less than 300 reported cases in the world. I am sure now there are many undiagnosed cases like ours was for so long. To learn more about the condition I have provided readers with the link to one of only a few sites about the condition.
This condition impacts all children differently and their abilities. In Makennas case, she does not have the ability (yet) to support her head, trunk, or other gross motor movements. She can not communicate verbally anymore (yet) or show interest in toys or other objects (yet). She has hydrocephalus, epilepsy, asthma, mottled red skin, joined toes (syndactly), bloated stomach, large head and delayed gross motor, fine motor and cognitive abilities. She is currently in early intervention services in Manhattan, KS. Because this syndrome is so rare, there are limited resources for families. This includes access to health care i.e. medicaid, child care, transportation. As this is the case for many families with children with this condition, many parents choose to either quit their jobs or have one parents work if possible due to the lack of child care for their children and the numerous emergency hospital visits. Parents are forced to make a choice between working and providing a safe home for their children. Many times parents are denied state health care for their children because of a parents income, or because of the rarity of the condition and lack of medical research on M-CMTC.
The hope of this foundation is to provide support for children and families faced with the hardship of finding resources and making it from day to day. It is my hope that this foundation with the help of denotation from supporters, we will raise the funds for families to access the needed medical care, find vehicles that are accessible for wheelchairs, find support groups in their home states, advocate to health care agencies in their towns, communities and cities, find resources for child care so a parent can feel comfortable sending their precious angels to someone so they may get respite or find a job. The hope is to make The Makennas Foundation a place for all "Happy Ones" like my daughter to be a place of love, laughter and legacies.
This is for all the Makennas out there who need someone in their corner!!!
Many Blessings,
Brandy James, CEO---Makennas FoundationProud Mother of Makenna Caroline Clark