Four rare diseases – One family

Beginning with a rough diagnosis

I suppose we hit the genetic jackpot five times.  My oldest daughter, Sherry, was born with a rare inborn error of metabolism called D-2-Hydroxyglutaric Aciduria.  In her case the disease causes severe phenotype, intractible seizures, cortical blindness, and serious intellectual and developmental disabilities. She also has a silent hidden dumping syndrome which causes frequent dehydrations, and in one case metabolic crisis.A mutation within the D2HGA gene has been found  so she has two mutations unlike others who have only one.

Sherry  was also born with Linear Subaceous and Epidermal Nevus Syndrome which causes areas of alopecia on her head and also thickened areas of hype-pigmentation.  With the Nevi she also has pre-malignant melanomas with patterned hyper-pigmentation.

Subsequently she has been diagnosed with a third rare disease, spondyloenchondromatosis.  This is a bone disease that causes, among other things, dysplasias, fragile bones and cartilage over-growth and uneven bone growth.  Mixed amongst this in her case are bone tumours inside and outside her long bones.

Finding the right care

To find appropriate care, especially now since she is 19 years old and has recently left her paediatric care, is a nightmare since there is absolutely no sub-specialty care that can adequately handle her.   The primary care physician that we use has reluctantly agreed to take her, with the stipulation that there be letters of protocol set forth to give her maintenance care for things such as ear infections.   Not more than that: otherwise she will be transferred each time to a higher-level medical care centre located 4 hours away.

Medically fragile, it has been a struggle with school until last year when I put both feet down to provide her with home-schooling services.   Since then we have avoided weeks of upper respiratory infections and other problems picked up in the classroom. She has a suppressed immune system and I walked into the classroom to find the teacher’s aid wrapped in a blanket, clearly ill, and going home.  At the same time, another child was in another room with strep throat.  Guess who ended up in ER?  Sherry with what turned out to be strep.

Lost in the medical maze

Medical abandonment has had a variety of consequences from having to locate new doctors to emergency transport to other facilities, sub-standard care, and in one abandonment necessity for life-flight Lear jet. The doctor with that abandonment told me, she's brain damaged, that's why she has seizures, you can take care of her better at home, and then discharged her rather than arranging EMS transport to the appropriate hospital for treatment. This being the request of her paediatric neurologist.Telling the nurses on the floor who begged him to change orders to transfer, ignoring to speak to other physicians.  Instead, said I don't give a sh** what you do with her, I dismissed her so she's not my problem.

When a complaint was filed and reviewed the Medical Examiners said that "there are too many greyareas for disciplinary action."

Physicians who are not established in metabolic and rare bone/joint disease, or metabolic neurology, dumping syndrome, rare dermatological disorders, are not willing or capable of caring for her.  Leaving us in limbo and basically helpless in some medical situations no matter how proactive we are.

We are blessed in being able to take her back to Houston for care with her original team of wonderful and involved physicians/researchers where her age is not going to be an issue.  There is one doctor who is prepared to handle her bone tumours with radiation should they become malignant.  Other physicians would not go to these lengths.

Her diseases may limit her, may make her the wonderful little girl (still my baby) that she is...but, they do not define her.   They do not change the fact that she has feelings, that she loves deeply and knows without doubt how deeply she is loved.    She smiles when her little brother gets in trouble, she smiles when she's happy or thinks something is funny.

I had a baby after Sherry. She was diagnosed with d-2-hydroxyglutaric aciduria.  DOB/DOD 12-28-93.

Early detection through newborn screening

A year and a half later came my son, Nathan who was tested through amniocentesis as well as newborn screening for D2HGA.  We were blessed with a healthy son.  But, upon our return home within a week or two, I had a call from Houston regarding his newborn testing.  It turned out that while he did not have the same rare diseases his sister has, he cropped up with a different metabolic disorder which was also not so common. Hydromethylmalonic Acidosis. 

Thanks to newborn screening, it was detected and treated.  Although a frightening quick trip to Houston for me with him, it was resolved through treatment.  Unchecked and untreated the end result could have eventually been tragic.  The only issue he has now is dyslexia which is not a result from his HMMA.

So, four rare diseases. A total of four doctors willing to take care of them at this time for many problems.No one local other than to offer base support.  This includes Gastro Enterology and Neurology who provides care but prefers to defer to genetics when possible.   Medical care is not in place here for any specialised needs.  There is also no dental or vision care for her locally.

Forging on with a helping hand

When Sherry was diagnosed in 1991, there were no other patients for contact.  Since publications, 2HGA's have been found globally and in increasing numbers and many also combined with a secondary rare disease.   Sherry is now 19 years old and at this point I still have not found any patients her age or older.

Funding for rare disease is woefully low.  Thank God for organizations like Eurordis and for NORD who are the only source of information and resources we have to help us gather information needed about our rare disorders. as well as NIH studies and publications.   If we had access to articles listed in PubMed and other resources it would be helpful.   As families, we can't afford to purchase the material.

If we count our numbers rather than specific disorders, I believe that we find ourselves not so rare after all.  We're a special community of people...adults and children...who often have just each other to rely on as a whole, in addition to our specific quests for answers into our personal diagnosis.

There are miracles if you believe.

Sherry: D-2-Hydroxyglutaric Aciduria

Grace: D-2-Hydroxyglutaric Aciduria (DOD/DOB 12-28-92)

Nathan: Hydromethylmalonic Acidosis (cured - newborn screening)

Penny Jacquith, Houston, USA